Incidental Mutation 'R0433:Cacna1g'
ID 38947
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 038635-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.450) question?
Stock # R0433 (G1)
Quality Score 205
Status Validated
Chromosome 11
Chromosomal Location 94299217-94365024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94350033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 604 (D604V)
Ref Sequence ENSEMBL: ENSMUSP00000103418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021234] [ENSMUST00000100561] [ENSMUST00000103166] [ENSMUST00000107785] [ENSMUST00000107786] [ENSMUST00000107788] [ENSMUST00000107789] [ENSMUST00000107792] [ENSMUST00000107791] [ENSMUST00000107793] [ENSMUST00000107790]
AlphaFold Q5SUF7
Predicted Effect probably benign
Transcript: ENSMUST00000021234
AA Change: D604V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021234
Gene: ENSMUSG00000020866
AA Change: D604V

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: D604V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000098127
Gene: ENSMUSG00000020866
AA Change: D604V

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: D604V

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099455
Gene: ENSMUSG00000020866
AA Change: D604V

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: D604V

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000103414
Gene: ENSMUSG00000020866
AA Change: D604V

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 benign
Transcript: ENSMUST00000107786
AA Change: D587V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103415
Gene: ENSMUSG00000020866
AA Change: D587V

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 probably benign
Transcript: ENSMUST00000107788
AA Change: D604V

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103417
Gene: ENSMUSG00000020866
AA Change: D604V

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: D604V

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103418
Gene: ENSMUSG00000020866
AA Change: D604V

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 benign
Transcript: ENSMUST00000107792
AA Change: D604V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103421
Gene: ENSMUSG00000020866
AA Change: D604V

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 benign
Transcript: ENSMUST00000107791
AA Change: D604V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000103420
Gene: ENSMUSG00000020866
AA Change: D604V

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 probably benign
Transcript: ENSMUST00000107793
AA Change: D604V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103422
Gene: ENSMUSG00000020866
AA Change: D604V

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 benign
Transcript: ENSMUST00000107790
AA Change: D604V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000103419
Gene: ENSMUSG00000020866
AA Change: D604V

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 noncoding transcript
Transcript: ENSMUST00000152811
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.3%
Validation Efficiency 99% (108/109)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,636 (GRCm39) V199A possibly damaging Het
Abcb5 T C 12: 118,841,545 (GRCm39) M967V probably benign Het
Adcy10 T A 1: 165,379,591 (GRCm39) L951Q probably damaging Het
Amer2 A T 14: 60,616,032 (GRCm39) S76C probably damaging Het
Atad1 T C 19: 32,675,877 (GRCm39) I182M probably benign Het
Bpi A G 2: 158,100,339 (GRCm39) D42G probably damaging Het
C7 G T 15: 5,018,398 (GRCm39) T815K probably damaging Het
Camk1g A G 1: 193,036,366 (GRCm39) F165L probably damaging Het
Ccdc69 C T 11: 54,943,716 (GRCm39) probably null Het
Ccser2 A C 14: 36,640,486 (GRCm39) F37L probably damaging Het
Cfap43 A G 19: 47,814,210 (GRCm39) F208S probably benign Het
Cfap54 G A 10: 92,814,942 (GRCm39) probably benign Het
Cfap69 A C 5: 5,699,853 (GRCm39) D62E probably damaging Het
Cnksr2 A T X: 156,671,554 (GRCm39) M483K probably benign Het
Cnksr2 C A X: 156,671,553 (GRCm39) M483I probably benign Het
Cog8 T C 8: 107,783,110 (GRCm39) S60G possibly damaging Het
Col4a3 C T 1: 82,647,940 (GRCm39) P484S unknown Het
Col6a4 C T 9: 105,945,193 (GRCm39) G974R probably damaging Het
Cplane1 T C 15: 8,246,046 (GRCm39) S1473P probably benign Het
Dbnl T G 11: 5,746,825 (GRCm39) probably null Het
Dhcr7 T C 7: 143,394,200 (GRCm39) C114R possibly damaging Het
Dnah2 C A 11: 69,350,114 (GRCm39) D2340Y probably damaging Het
Dnai4 T C 4: 102,960,450 (GRCm39) N67D probably benign Het
Dusp10 T A 1: 183,801,393 (GRCm39) Y387N probably damaging Het
Eipr1 C T 12: 28,909,330 (GRCm39) T199I possibly damaging Het
Emc2 T G 15: 43,360,520 (GRCm39) probably null Het
Enpp3 A G 10: 24,696,495 (GRCm39) S147P probably benign Het
Fam133b T A 5: 3,608,560 (GRCm39) probably benign Het
Fat1 C A 8: 45,477,686 (GRCm39) T2244K possibly damaging Het
Fbn1 A G 2: 125,190,135 (GRCm39) S1453P possibly damaging Het
Fez2 A T 17: 78,725,476 (GRCm39) F13I probably damaging Het
Ggnbp2 T C 11: 84,727,246 (GRCm39) K530R probably damaging Het
Gpa33 T C 1: 165,991,330 (GRCm39) probably benign Het
Gpr142 T C 11: 114,696,823 (GRCm39) I123T probably damaging Het
Il21 T G 3: 37,286,684 (GRCm39) I11L possibly damaging Het
Klhl7 A G 5: 24,332,700 (GRCm39) E86G probably damaging Het
Klk10 G T 7: 43,430,989 (GRCm39) A11S possibly damaging Het
Knl1 A T 2: 118,934,542 (GRCm39) D2115V probably damaging Het
Lonp2 A G 8: 87,360,582 (GRCm39) D185G probably damaging Het
Lrrc47 T C 4: 154,102,822 (GRCm39) probably benign Het
Lrrcc1 A G 3: 14,624,434 (GRCm39) I698V probably damaging Het
Lzts2 T C 19: 45,010,115 (GRCm39) V83A possibly damaging Het
Melk C A 4: 44,340,614 (GRCm39) probably benign Het
Mical1 G A 10: 41,355,486 (GRCm39) V150I probably benign Het
Morn3 C A 5: 123,177,396 (GRCm39) M129I probably benign Het
Mroh2b T A 15: 4,971,116 (GRCm39) D1040E probably benign Het
Mroh5 T C 15: 73,661,877 (GRCm39) N438S probably benign Het
Mroh5 T A 15: 73,662,657 (GRCm39) Q387L probably damaging Het
Myh15 A G 16: 48,965,599 (GRCm39) D1168G probably damaging Het
Nek10 A G 14: 14,860,927 (GRCm38) E493G probably benign Het
Nipsnap3a A G 4: 53,000,316 (GRCm39) Y227C probably damaging Het
Nlrp9c T A 7: 26,085,244 (GRCm39) T112S probably benign Het
Nphp4 T C 4: 152,602,629 (GRCm39) V401A probably benign Het
Nr1h2 A G 7: 44,199,411 (GRCm39) *365Q probably null Het
Or13p5 T C 4: 118,592,287 (GRCm39) V187A probably benign Het
Or5p54 T C 7: 107,554,469 (GRCm39) I207T probably damaging Het
Pacs2 T A 12: 113,020,464 (GRCm39) V279D possibly damaging Het
Pdcd2 C T 17: 15,746,646 (GRCm39) C171Y probably benign Het
Pde11a T A 2: 76,168,050 (GRCm39) D301V possibly damaging Het
Pfpl T G 19: 12,406,839 (GRCm39) N363K probably damaging Het
Phf14 T A 6: 11,933,742 (GRCm39) S201R probably damaging Het
Pip4k2c G A 10: 127,044,815 (GRCm39) P66S probably benign Het
Pou2f3 G T 9: 43,038,693 (GRCm39) H392N probably benign Het
Pou3f1 G T 4: 124,552,697 (GRCm39) G400C probably damaging Het
Ptprg T C 14: 12,220,620 (GRCm38) I1219T probably damaging Het
Rfx6 A G 10: 51,596,124 (GRCm39) D435G probably damaging Het
Rhpn2 T A 7: 35,084,899 (GRCm39) S598T probably benign Het
Sdccag8 C A 1: 176,672,387 (GRCm39) probably null Het
Sec16b C A 1: 157,362,279 (GRCm39) Y43* probably null Het
Sele T C 1: 163,876,813 (GRCm39) Y30H possibly damaging Het
Sgsm2 C T 11: 74,749,016 (GRCm39) probably null Het
Slc45a2 T C 15: 11,025,831 (GRCm39) Y394H probably benign Het
Slc4a10 T G 2: 62,120,327 (GRCm39) I788S probably benign Het
Slmap A T 14: 26,174,749 (GRCm39) L161* probably null Het
Slx4 A T 16: 3,803,882 (GRCm39) D977E probably benign Het
Spata31e5 A T 1: 28,816,423 (GRCm39) Y536* probably null Het
Spata31f3 A G 4: 42,874,013 (GRCm39) probably benign Het
Spen A T 4: 141,211,069 (GRCm39) M608K unknown Het
St8sia4 G C 1: 95,519,429 (GRCm39) T353R probably damaging Het
Stab2 G T 10: 86,679,355 (GRCm39) probably benign Het
Stx12 C T 4: 132,585,741 (GRCm39) G213D probably damaging Het
Synj2 A T 17: 6,084,123 (GRCm39) N270Y probably damaging Het
Tdrd9 C T 12: 111,992,015 (GRCm39) R438* probably null Het
Tert T C 13: 73,775,200 (GRCm39) Y18H probably damaging Het
Tph1 A T 7: 46,303,245 (GRCm39) F244L probably damaging Het
Triobp T C 15: 78,852,401 (GRCm39) F852L possibly damaging Het
Trpv1 T C 11: 73,143,834 (GRCm39) probably benign Het
Uggt2 A T 14: 119,312,741 (GRCm39) probably null Het
Ulk4 A G 9: 120,873,885 (GRCm39) I1182T probably benign Het
Uqcc1 A G 2: 155,752,288 (GRCm39) Y98H probably damaging Het
Usp25 A G 16: 76,906,105 (GRCm39) I854V probably benign Het
Usp50 T C 2: 126,603,464 (GRCm39) S361G probably damaging Het
Uspl1 C A 5: 149,151,625 (GRCm39) Q743K probably damaging Het
Vmn2r3 A G 3: 64,183,054 (GRCm39) V215A possibly damaging Het
Vmn2r61 A T 7: 41,915,335 (GRCm39) H94L probably benign Het
Vps37c T C 19: 10,690,393 (GRCm39) V285A probably benign Het
Vwa8 T C 14: 79,300,116 (GRCm39) V983A probably damaging Het
Zcchc9 C T 13: 91,954,081 (GRCm39) R58H probably benign Het
Zdbf2 T C 1: 63,345,302 (GRCm39) V1227A possibly damaging Het
Zfp292 T C 4: 34,839,959 (GRCm39) K64E probably damaging Het
Zfp948 A G 17: 21,807,764 (GRCm39) T319A probably benign Het
Zp3r T G 1: 130,504,870 (GRCm39) 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
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
R1750:Cacna1g UTSW 11 94,334,118 (GRCm39) missense probably damaging 1.00
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'- TGGTCCAAAGATGTCAGGGCTACAG -3'
(R):5'- AGCTTCTACCATGCTGACTGCCAC -3'

Sequencing Primer
(F):5'- agaaggctgcgagagaac -3'
(R):5'- ATGCTGACTGCCACTTGGAG -3'
Posted On 2013-05-23