Incidental Mutation 'R1750:Cacna1g'
ID 193435
Institutional Source Beutler Lab
Gene Symbol Cacna1g
Ensembl Gene ENSMUSG00000020866
Gene Name calcium channel, voltage-dependent, T type, alpha 1G subunit
Synonyms a1G, Cav3.1d
MMRRC Submission 039782-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.450) question?
Stock # R1750 (G1)
Quality Score 187
Status Not validated
Chromosome 11
Chromosomal Location 94299217-94365024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94334118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 841 (V841E)
Ref Sequence ENSEMBL: ENSMUSP00000103422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021234] [ENSMUST00000100561] [ENSMUST00000103166] [ENSMUST00000107785] [ENSMUST00000107786] [ENSMUST00000107788] [ENSMUST00000107789] [ENSMUST00000107792] [ENSMUST00000107790] [ENSMUST00000107793] [ENSMUST00000107791]
AlphaFold Q5SUF7
Predicted Effect probably damaging
Transcript: ENSMUST00000021234
AA Change: V841E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021234
Gene: ENSMUSG00000020866
AA Change: V841E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 9.2e-66 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 7.9e-46 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 3e-55 PFAM
coiled coil region 1519 1559 N/A INTRINSIC
low complexity region 1562 1573 N/A INTRINSIC
Pfam:Ion_trans 1630 1835 3e-49 PFAM
Pfam:PKD_channel 1688 1842 7.8e-11 PFAM
low complexity region 2180 2211 N/A INTRINSIC
low complexity region 2230 2246 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100561
AA Change: V841E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000098127
Gene: ENSMUSG00000020866
AA Change: V841E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1313 1537 6.1e-55 PFAM
coiled coil region 1542 1582 N/A INTRINSIC
low complexity region 1585 1596 N/A INTRINSIC
Pfam:Ion_trans 1653 1858 6.2e-49 PFAM
Pfam:PKD_channel 1711 1865 1.4e-10 PFAM
low complexity region 2203 2234 N/A INTRINSIC
low complexity region 2253 2269 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103166
AA Change: V841E

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000099455
Gene: ENSMUSG00000020866
AA Change: V841E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1313 1537 6.1e-55 PFAM
SCOP:d1g2qa_ 1545 1589 6e-3 SMART
Pfam:Ion_trans 1646 1851 6.2e-49 PFAM
Pfam:PKD_channel 1704 1858 1.4e-10 PFAM
low complexity region 2196 2227 N/A INTRINSIC
low complexity region 2246 2262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107785
AA Change: V841E

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103414
Gene: ENSMUSG00000020866
AA Change: V841E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.8e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.5e-45 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 5.7e-55 PFAM
coiled coil region 1519 1558 N/A INTRINSIC
Pfam:Ion_trans 1612 1817 5.8e-49 PFAM
Pfam:PKD_channel 1670 1824 1.4e-10 PFAM
low complexity region 2027 2042 N/A INTRINSIC
low complexity region 2084 2115 N/A INTRINSIC
low complexity region 2134 2150 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107786
AA Change: V824E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103415
Gene: ENSMUSG00000020866
AA Change: V824E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 383 4e-60 PFAM
low complexity region 466 490 N/A INTRINSIC
low complexity region 518 530 N/A INTRINSIC
Pfam:Ion_trans 760 946 1.6e-45 PFAM
low complexity region 1023 1034 N/A INTRINSIC
low complexity region 1046 1073 N/A INTRINSIC
low complexity region 1094 1110 N/A INTRINSIC
low complexity region 1176 1187 N/A INTRINSIC
Pfam:Ion_trans 1273 1497 5.9e-55 PFAM
SCOP:d1g2qa_ 1505 1549 6e-3 SMART
Pfam:Ion_trans 1606 1811 6e-49 PFAM
Pfam:PKD_channel 1664 1818 1.4e-10 PFAM
low complexity region 2156 2187 N/A INTRINSIC
low complexity region 2206 2222 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107788
AA Change: V841E

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103417
Gene: ENSMUSG00000020866
AA Change: V841E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1313 1537 6e-55 PFAM
coiled coil region 1542 1574 N/A INTRINSIC
Pfam:Ion_trans 1628 1833 6.1e-49 PFAM
Pfam:PKD_channel 1686 1840 1.4e-10 PFAM
low complexity region 2178 2209 N/A INTRINSIC
low complexity region 2228 2244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107789
AA Change: V841E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103418
Gene: ENSMUSG00000020866
AA Change: V841E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 80 406 1.6e-76 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 742 972 3.4e-56 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1276 1549 1.5e-61 PFAM
low complexity region 1578 1589 N/A INTRINSIC
Pfam:Ion_trans 1611 1863 2.1e-56 PFAM
Pfam:PKD_channel 1703 1858 3.4e-9 PFAM
low complexity region 2289 2320 N/A INTRINSIC
low complexity region 2339 2355 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107792
AA Change: V841E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103421
Gene: ENSMUSG00000020866
AA Change: V841E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.8e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 5.9e-55 PFAM
coiled coil region 1519 1551 N/A INTRINSIC
Pfam:Ion_trans 1605 1810 6e-49 PFAM
Pfam:PKD_channel 1663 1817 1.4e-10 PFAM
low complexity region 2155 2186 N/A INTRINSIC
low complexity region 2205 2221 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107790
AA Change: V841E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103419
Gene: ENSMUSG00000020866
AA Change: V841E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 6e-55 PFAM
SCOP:d1g2qa_ 1522 1566 6e-3 SMART
Pfam:Ion_trans 1623 1828 6.1e-49 PFAM
Pfam:PKD_channel 1681 1835 1.4e-10 PFAM
low complexity region 2173 2204 N/A INTRINSIC
low complexity region 2223 2239 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107793
AA Change: V841E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103422
Gene: ENSMUSG00000020866
AA Change: V841E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.9e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1063 1074 N/A INTRINSIC
low complexity region 1086 1113 N/A INTRINSIC
low complexity region 1134 1150 N/A INTRINSIC
low complexity region 1216 1227 N/A INTRINSIC
Pfam:Ion_trans 1313 1537 6e-55 PFAM
coiled coil region 1542 1581 N/A INTRINSIC
Pfam:Ion_trans 1635 1840 6.1e-49 PFAM
Pfam:PKD_channel 1693 1847 1.4e-10 PFAM
low complexity region 2185 2216 N/A INTRINSIC
low complexity region 2235 2251 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107791
AA Change: V841E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103420
Gene: ENSMUSG00000020866
AA Change: V841E

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:Ion_trans 119 394 1.8e-65 PFAM
low complexity region 483 507 N/A INTRINSIC
low complexity region 535 547 N/A INTRINSIC
Pfam:Ion_trans 777 963 1.6e-45 PFAM
low complexity region 1040 1051 N/A INTRINSIC
low complexity region 1063 1090 N/A INTRINSIC
low complexity region 1111 1127 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Pfam:Ion_trans 1290 1514 6e-55 PFAM
coiled coil region 1519 1558 N/A INTRINSIC
Pfam:Ion_trans 1612 1817 6e-49 PFAM
Pfam:PKD_channel 1670 1824 1.4e-10 PFAM
low complexity region 2162 2193 N/A INTRINSIC
low complexity region 2212 2228 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152811
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 91.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygote null mice display disrupted sleeping patterns, altered amounts of activity, abnormal action potentials in the brain, prolonged electrical conductance in the heart, and resistance to diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik G T 7: 130,747,859 (GRCm39) N44K probably benign Het
Acd C A 8: 106,425,524 (GRCm39) A270S possibly damaging Het
Acnat1 G A 4: 49,451,042 (GRCm39) T23I probably benign Het
Adam26a T G 8: 44,023,226 (GRCm39) E88A possibly damaging Het
Adgrb1 G A 15: 74,413,676 (GRCm39) V589M probably benign Het
Agbl2 T A 2: 90,646,720 (GRCm39) probably benign Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Amh AGCGCCTTGG AG 10: 80,641,419 (GRCm39) probably null Het
Asap2 T C 12: 21,253,999 (GRCm39) L170P probably damaging Het
Btg2 T C 1: 134,006,769 (GRCm39) D8G probably benign Het
Cacna2d1 C T 5: 16,469,286 (GRCm39) P230L probably benign Het
Cacna2d2 A T 9: 107,401,843 (GRCm39) D766V probably damaging Het
Carns1 A G 19: 4,223,156 (GRCm39) W23R possibly damaging Het
Cdk11b T A 4: 155,713,137 (GRCm39) probably null Het
Chrna3 T C 9: 54,923,341 (GRCm39) S156G probably damaging Het
Cmya5 A T 13: 93,232,171 (GRCm39) N972K probably benign Het
Cpne7 C A 8: 123,861,263 (GRCm39) P541T probably damaging Het
Cracd A G 5: 77,005,522 (GRCm39) I628V unknown Het
Csmd1 A T 8: 15,967,303 (GRCm39) L3187I probably damaging Het
Dbt A G 3: 116,339,943 (GRCm39) I404V probably benign Het
Dgki A T 6: 36,893,369 (GRCm39) I819K probably damaging Het
Dip2b T A 15: 100,076,347 (GRCm39) S782T probably benign Het
Dlc1 A T 8: 37,325,244 (GRCm39) probably null Het
Dnajc13 A T 9: 104,098,676 (GRCm39) V459E probably damaging Het
Enam A G 5: 88,651,086 (GRCm39) E790G probably damaging Het
Epb41l4a G C 18: 33,961,261 (GRCm39) Y424* probably null Het
Extl1 A G 4: 134,089,999 (GRCm39) S370P probably benign Het
Fan1 T C 7: 64,022,761 (GRCm39) Y164C probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Fbxw25 A T 9: 109,479,141 (GRCm39) I370N probably benign Het
Fcgbp T A 7: 27,792,868 (GRCm39) Y957* probably null Het
Gkap1 C A 13: 58,384,857 (GRCm39) E77* probably null Het
Gkn1 A T 6: 87,326,105 (GRCm39) N28K unknown Het
Gls2 A G 10: 128,037,194 (GRCm39) E245G probably damaging Het
Glyat G A 19: 12,623,679 (GRCm39) V32I probably benign Het
Gm2431 A T 7: 141,811,762 (GRCm39) C47* probably null Het
Gm5431 T C 11: 48,785,658 (GRCm39) D239G probably benign Het
Ift70a1 C T 2: 75,810,599 (GRCm39) V495I probably benign Het
Inpp5d T C 1: 87,626,803 (GRCm39) F540L probably damaging Het
Kcna1 A C 6: 126,619,771 (GRCm39) I183S probably benign Het
Kpna2 G T 11: 106,882,271 (GRCm39) L212I probably damaging Het
Krt36 C G 11: 99,994,884 (GRCm39) R229S probably benign Het
Krt78 G A 15: 101,854,812 (GRCm39) H1000Y probably benign Het
Krt90 A G 15: 101,461,800 (GRCm39) probably benign Het
Ldlrad4 C A 18: 68,239,758 (GRCm39) F59L probably benign Het
Lrrc3b T C 14: 15,358,601 (GRCm38) N2D probably benign Het
Madd T C 2: 90,998,236 (GRCm39) D239G probably damaging Het
Mapk8ip3 C T 17: 25,133,433 (GRCm39) G332S probably null Het
Mastl A T 2: 23,036,093 (GRCm39) L141* probably null Het
Mdh1b T C 1: 63,758,681 (GRCm39) N304D probably benign Het
Mfsd4b3-ps G T 10: 39,823,929 (GRCm39) N110K probably benign Het
Mtus2 T C 5: 148,214,443 (GRCm39) S1035P probably damaging Het
Muc21 T A 17: 35,931,940 (GRCm39) probably benign Het
Myh11 T A 16: 14,018,622 (GRCm39) D1908V probably damaging Het
Myh11 T C 16: 14,033,654 (GRCm39) E1080G probably damaging Het
Mypn A C 10: 62,971,976 (GRCm39) M688R probably benign Het
Nat8l G T 5: 34,158,130 (GRCm39) C180F probably damaging Het
Nip7 T A 8: 107,784,018 (GRCm39) L86Q probably damaging Het
Nisch C T 14: 30,896,839 (GRCm39) probably benign Het
Nop2 A G 6: 125,114,601 (GRCm39) I283V probably benign Het
Oas1h T A 5: 121,009,840 (GRCm39) probably null Het
Or10ag56 T C 2: 87,139,196 (GRCm39) V41A probably benign Het
Or2g25 A C 17: 37,970,564 (GRCm39) I220S probably damaging Het
Or4c101 C A 2: 88,390,402 (GRCm39) D185E possibly damaging Het
Or4c104 T C 2: 88,586,117 (GRCm39) R301G probably benign Het
Or56b1b A T 7: 108,164,564 (GRCm39) L146* probably null Het
Or5w17 T A 2: 87,583,530 (GRCm39) D269V probably damaging Het
Or8b42 T A 9: 38,341,986 (GRCm39) M136K probably damaging Het
P4hb A G 11: 120,453,546 (GRCm39) V373A probably damaging Het
Pappa2 C A 1: 158,590,720 (GRCm39) E1645* probably null Het
Pcdh10 G T 3: 45,336,316 (GRCm39) E877* probably null Het
Pcdhb17 C T 18: 37,618,764 (GRCm39) R185C probably damaging Het
Pcdhb17 A G 18: 37,620,070 (GRCm39) H620R possibly damaging Het
Pdcl3 T A 1: 39,034,946 (GRCm39) F168I probably damaging Het
Pde4a T A 9: 21,114,528 (GRCm39) I365N probably damaging Het
Pdzd2 A G 15: 12,385,950 (GRCm39) V940A probably damaging Het
Picalm T A 7: 89,840,390 (GRCm39) S399T possibly damaging Het
Pigk A T 3: 152,450,101 (GRCm39) I249F probably damaging Het
Plxnb1 C A 9: 108,940,836 (GRCm39) H1570Q probably benign Het
Plxnc1 A G 10: 94,635,359 (GRCm39) Y1321H probably damaging Het
Ppm1g G A 5: 31,363,560 (GRCm39) S114F probably damaging Het
Rassf4 A G 6: 116,617,228 (GRCm39) M259T probably damaging Het
Rbm47 T C 5: 66,176,653 (GRCm39) K557E possibly damaging Het
Rhobtb1 A G 10: 69,115,236 (GRCm39) K21R probably damaging Het
Selenoi T C 5: 30,462,771 (GRCm39) F212S probably benign Het
Shc3 T G 13: 51,603,328 (GRCm39) Y259S probably damaging Het
Skic3 T A 13: 76,288,720 (GRCm39) L951Q possibly damaging Het
Slc11a2 T C 15: 100,299,168 (GRCm39) N134S probably damaging Het
Slc9a7 A T X: 20,028,717 (GRCm39) M368K probably damaging Het
Slx4ip T A 2: 136,888,669 (GRCm39) C117S probably damaging Het
Spata31d1d T A 13: 59,876,509 (GRCm39) Q342L probably benign Het
Spink13 T A 18: 62,740,820 (GRCm39) Y93F probably damaging Het
St6galnac5 A T 3: 152,551,958 (GRCm39) I203N possibly damaging Het
Syne2 T A 12: 76,099,579 (GRCm39) C5335S probably damaging Het
Tagap T A 17: 8,148,742 (GRCm39) D173E probably benign Het
Tekt3 A C 11: 62,960,867 (GRCm39) Y12S probably damaging Het
Tmem81 T A 1: 132,435,321 (GRCm39) N42K probably damaging Het
Tnc A G 4: 63,890,972 (GRCm39) W1728R probably damaging Het
Ttc33 C T 15: 5,241,579 (GRCm39) R135* probably null Het
Unc5c A G 3: 141,533,278 (GRCm39) D842G possibly damaging Het
Usp43 A T 11: 67,770,779 (GRCm39) H618Q probably damaging Het
Vmn2r50 T G 7: 9,786,915 (GRCm39) N64T possibly damaging Het
Vmn2r53 T C 7: 12,315,632 (GRCm39) Y729C probably damaging Het
Vmn2r59 T A 7: 41,695,251 (GRCm39) H387L possibly damaging Het
Vstm2a G T 11: 16,213,166 (GRCm39) V184F possibly damaging Het
Wdr53 T G 16: 32,070,935 (GRCm39) N93K probably damaging Het
Wdr95 A G 5: 149,505,351 (GRCm39) probably null Het
Xpot A T 10: 121,438,932 (GRCm39) probably null Het
Xrcc5 C T 1: 72,364,246 (GRCm39) Q233* probably null Het
Zbtb18 T A 1: 177,275,077 (GRCm39) C137S possibly damaging Het
Zfp58 C A 13: 67,639,598 (GRCm39) G298* probably null Het
Zfp963 A G 8: 70,196,100 (GRCm39) S118P possibly damaging Het
Zmynd15 A T 11: 70,353,393 (GRCm39) Q336L probably benign Het
Other mutations in Cacna1g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Cacna1g APN 11 94,324,738 (GRCm39) missense probably benign 0.16
IGL01382:Cacna1g APN 11 94,356,684 (GRCm39) missense probably damaging 1.00
IGL01694:Cacna1g APN 11 94,319,938 (GRCm39) missense probably damaging 1.00
IGL01866:Cacna1g APN 11 94,347,937 (GRCm39) missense probably damaging 0.99
IGL02341:Cacna1g APN 11 94,352,978 (GRCm39) missense probably damaging 1.00
IGL02506:Cacna1g APN 11 94,319,955 (GRCm39) missense probably damaging 0.99
IGL02706:Cacna1g APN 11 94,347,818 (GRCm39) missense probably damaging 1.00
IGL02879:Cacna1g APN 11 94,300,431 (GRCm39) missense probably benign 0.12
IGL03366:Cacna1g APN 11 94,347,977 (GRCm39) missense probably damaging 1.00
ANU23:Cacna1g UTSW 11 94,357,054 (GRCm39) critical splice acceptor site probably benign
IGL03134:Cacna1g UTSW 11 94,350,651 (GRCm39) missense probably damaging 1.00
R0092:Cacna1g UTSW 11 94,348,090 (GRCm39) missense probably damaging 1.00
R0123:Cacna1g UTSW 11 94,300,302 (GRCm39) missense probably damaging 1.00
R0178:Cacna1g UTSW 11 94,354,309 (GRCm39) missense probably damaging 1.00
R0375:Cacna1g UTSW 11 94,301,880 (GRCm39) missense possibly damaging 0.79
R0389:Cacna1g UTSW 11 94,350,523 (GRCm39) missense probably damaging 1.00
R0433:Cacna1g UTSW 11 94,350,033 (GRCm39) missense probably benign 0.16
R0458:Cacna1g UTSW 11 94,300,266 (GRCm39) missense probably damaging 0.96
R0498:Cacna1g UTSW 11 94,350,685 (GRCm39) missense probably damaging 1.00
R0629:Cacna1g UTSW 11 94,300,369 (GRCm39) missense possibly damaging 0.93
R0800:Cacna1g UTSW 11 94,317,265 (GRCm39) missense probably damaging 1.00
R1341:Cacna1g UTSW 11 94,324,582 (GRCm39) missense probably damaging 0.99
R1457:Cacna1g UTSW 11 94,350,381 (GRCm39) missense possibly damaging 0.76
R1523:Cacna1g UTSW 11 94,333,555 (GRCm39) critical splice donor site probably null
R1532:Cacna1g UTSW 11 94,334,157 (GRCm39) missense probably damaging 1.00
R1540:Cacna1g UTSW 11 94,347,865 (GRCm39) missense probably damaging 1.00
R1652:Cacna1g UTSW 11 94,318,230 (GRCm39) missense probably damaging 1.00
R1688:Cacna1g UTSW 11 94,316,779 (GRCm39) missense possibly damaging 0.70
R1751:Cacna1g UTSW 11 94,350,628 (GRCm39) missense probably benign 0.35
R1767:Cacna1g UTSW 11 94,350,628 (GRCm39) missense probably benign 0.35
R1847:Cacna1g UTSW 11 94,357,007 (GRCm39) missense probably damaging 1.00
R1924:Cacna1g UTSW 11 94,334,880 (GRCm39) missense possibly damaging 0.93
R1973:Cacna1g UTSW 11 94,350,603 (GRCm39) missense possibly damaging 0.86
R2050:Cacna1g UTSW 11 94,300,300 (GRCm39) missense probably damaging 1.00
R2261:Cacna1g UTSW 11 94,347,961 (GRCm39) missense probably benign 0.42
R2273:Cacna1g UTSW 11 94,306,762 (GRCm39) missense probably damaging 0.98
R2274:Cacna1g UTSW 11 94,306,762 (GRCm39) missense probably damaging 0.98
R2275:Cacna1g UTSW 11 94,306,762 (GRCm39) missense probably damaging 0.98
R2376:Cacna1g UTSW 11 94,356,734 (GRCm39) missense probably damaging 0.99
R3686:Cacna1g UTSW 11 94,349,916 (GRCm39) splice site probably null
R3809:Cacna1g UTSW 11 94,306,922 (GRCm39) missense probably damaging 1.00
R3875:Cacna1g UTSW 11 94,328,749 (GRCm39) missense probably damaging 0.98
R4133:Cacna1g UTSW 11 94,323,370 (GRCm39) missense probably damaging 1.00
R4642:Cacna1g UTSW 11 94,308,920 (GRCm39) missense probably damaging 1.00
R4732:Cacna1g UTSW 11 94,334,041 (GRCm39) missense probably damaging 1.00
R4733:Cacna1g UTSW 11 94,334,041 (GRCm39) missense probably damaging 1.00
R4773:Cacna1g UTSW 11 94,302,298 (GRCm39) missense possibly damaging 0.78
R4798:Cacna1g UTSW 11 94,324,673 (GRCm39) missense probably damaging 1.00
R4839:Cacna1g UTSW 11 94,350,433 (GRCm39) missense probably benign 0.16
R4900:Cacna1g UTSW 11 94,350,177 (GRCm39) missense possibly damaging 0.78
R4927:Cacna1g UTSW 11 94,319,973 (GRCm39) missense probably damaging 1.00
R4930:Cacna1g UTSW 11 94,334,899 (GRCm39) missense probably damaging 1.00
R5050:Cacna1g UTSW 11 94,350,541 (GRCm39) missense probably damaging 1.00
R5117:Cacna1g UTSW 11 94,323,329 (GRCm39) missense probably damaging 1.00
R5186:Cacna1g UTSW 11 94,333,674 (GRCm39) missense probably damaging 1.00
R5364:Cacna1g UTSW 11 94,307,684 (GRCm39) missense probably benign 0.29
R5512:Cacna1g UTSW 11 94,334,968 (GRCm39) missense probably damaging 1.00
R5564:Cacna1g UTSW 11 94,321,312 (GRCm39) missense probably damaging 1.00
R5603:Cacna1g UTSW 11 94,330,578 (GRCm39) missense possibly damaging 0.76
R5682:Cacna1g UTSW 11 94,349,940 (GRCm39) missense probably damaging 1.00
R5818:Cacna1g UTSW 11 94,308,946 (GRCm39) missense probably damaging 1.00
R5828:Cacna1g UTSW 11 94,347,980 (GRCm39) missense probably damaging 1.00
R5882:Cacna1g UTSW 11 94,350,645 (GRCm39) missense probably damaging 1.00
R5884:Cacna1g UTSW 11 94,328,693 (GRCm39) missense probably damaging 1.00
R6075:Cacna1g UTSW 11 94,307,491 (GRCm39) missense probably damaging 1.00
R6112:Cacna1g UTSW 11 94,300,072 (GRCm39) missense probably damaging 0.98
R6122:Cacna1g UTSW 11 94,320,997 (GRCm39) missense probably benign 0.11
R6145:Cacna1g UTSW 11 94,353,087 (GRCm39) missense probably damaging 1.00
R6362:Cacna1g UTSW 11 94,330,533 (GRCm39) critical splice donor site probably null
R6415:Cacna1g UTSW 11 94,354,243 (GRCm39) missense probably damaging 1.00
R6468:Cacna1g UTSW 11 94,330,548 (GRCm39) missense probably damaging 1.00
R6648:Cacna1g UTSW 11 94,323,395 (GRCm39) missense probably damaging 1.00
R6746:Cacna1g UTSW 11 94,300,253 (GRCm39) nonsense probably null
R6764:Cacna1g UTSW 11 94,304,014 (GRCm39) missense possibly damaging 0.95
R6782:Cacna1g UTSW 11 94,350,376 (GRCm39) missense probably damaging 1.00
R6888:Cacna1g UTSW 11 94,350,033 (GRCm39) missense probably benign 0.16
R7148:Cacna1g UTSW 11 94,356,756 (GRCm39) missense probably benign 0.32
R7181:Cacna1g UTSW 11 94,306,691 (GRCm39) missense probably benign 0.21
R7183:Cacna1g UTSW 11 94,330,563 (GRCm39) missense probably benign 0.04
R7193:Cacna1g UTSW 11 94,300,057 (GRCm39) missense possibly damaging 0.60
R7237:Cacna1g UTSW 11 94,328,705 (GRCm39) missense probably benign 0.21
R7254:Cacna1g UTSW 11 94,323,393 (GRCm39) nonsense probably null
R7312:Cacna1g UTSW 11 94,323,383 (GRCm39) missense probably damaging 1.00
R7451:Cacna1g UTSW 11 94,319,901 (GRCm39) missense probably damaging 1.00
R7470:Cacna1g UTSW 11 94,352,765 (GRCm39) missense possibly damaging 0.76
R7534:Cacna1g UTSW 11 94,301,904 (GRCm39) missense probably benign 0.00
R7585:Cacna1g UTSW 11 94,364,368 (GRCm39) missense probably benign 0.39
R7706:Cacna1g UTSW 11 94,305,867 (GRCm39) missense probably benign 0.06
R7812:Cacna1g UTSW 11 94,334,880 (GRCm39) missense probably benign 0.03
R7918:Cacna1g UTSW 11 94,334,856 (GRCm39) missense probably benign 0.03
R7947:Cacna1g UTSW 11 94,348,001 (GRCm39) missense probably benign 0.01
R8013:Cacna1g UTSW 11 94,347,796 (GRCm39) missense probably damaging 0.99
R8016:Cacna1g UTSW 11 94,334,007 (GRCm39) missense probably benign 0.36
R8029:Cacna1g UTSW 11 94,300,564 (GRCm39) missense probably benign 0.01
R8098:Cacna1g UTSW 11 94,307,338 (GRCm39) missense probably benign 0.20
R8264:Cacna1g UTSW 11 94,364,392 (GRCm39) missense probably benign 0.21
R8478:Cacna1g UTSW 11 94,317,278 (GRCm39) missense probably damaging 1.00
R8679:Cacna1g UTSW 11 94,319,962 (GRCm39) missense probably damaging 1.00
R8697:Cacna1g UTSW 11 94,307,524 (GRCm39) missense probably benign 0.09
R8772:Cacna1g UTSW 11 94,356,713 (GRCm39) missense probably benign 0.03
R9011:Cacna1g UTSW 11 94,306,663 (GRCm39) missense probably benign 0.21
R9085:Cacna1g UTSW 11 94,334,046 (GRCm39) missense probably benign 0.01
R9155:Cacna1g UTSW 11 94,350,423 (GRCm39) missense
R9243:Cacna1g UTSW 11 94,347,893 (GRCm39) missense possibly damaging 0.84
R9288:Cacna1g UTSW 11 94,308,897 (GRCm39) nonsense probably null
R9408:Cacna1g UTSW 11 94,321,050 (GRCm39) missense probably damaging 1.00
R9496:Cacna1g UTSW 11 94,356,711 (GRCm39) missense probably benign 0.03
R9607:Cacna1g UTSW 11 94,356,714 (GRCm39) missense probably benign 0.03
R9720:Cacna1g UTSW 11 94,302,297 (GRCm39) missense probably benign 0.01
X0001:Cacna1g UTSW 11 94,300,471 (GRCm39) missense possibly damaging 0.90
X0019:Cacna1g UTSW 11 94,350,079 (GRCm39) missense probably damaging 0.97
X0065:Cacna1g UTSW 11 94,353,251 (GRCm39) missense probably damaging 1.00
Z1176:Cacna1g UTSW 11 94,328,937 (GRCm39) missense probably benign 0.31
Z1177:Cacna1g UTSW 11 94,364,416 (GRCm39) missense probably benign 0.21
Z1177:Cacna1g UTSW 11 94,350,422 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CGTTCAGATGCGAACTTGCAACC -3'
(R):5'- TCAGATGTCACCAATGGGTCCTCAG -3'

Sequencing Primer
(F):5'- ATGCCCAGGATGCTGGAG -3'
(R):5'- CACCAATGGGTCCTCAGAAAGG -3'
Posted On 2014-05-23