Incidental Mutation 'R4798:Cacna1g'
ID 369238
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 042422-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.450) question?
Stock # R4798 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 94299217-94365024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 94324673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 1183 (G1183W)
Ref Sequence ENSEMBL: ENSMUSP00000103417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021234] [ENSMUST00000100561] [ENSMUST00000103166] [ENSMUST00000107785] [ENSMUST00000107786] [ENSMUST00000107788] [ENSMUST00000107789] [ENSMUST00000107790] [ENSMUST00000107792] [ENSMUST00000107791] [ENSMUST00000107793]
AlphaFold Q5SUF7
Predicted Effect probably damaging
Transcript: ENSMUST00000021234
AA Change: G1160W

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021234
Gene: ENSMUSG00000020866
AA Change: G1160W

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 possibly damaging
Transcript: ENSMUST00000100561
AA Change: G1183W

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098127
Gene: ENSMUSG00000020866
AA Change: G1183W

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: G1183W

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099455
Gene: ENSMUSG00000020866
AA Change: G1183W

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 damaging
Transcript: ENSMUST00000107785
AA Change: G1160W

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103414
Gene: ENSMUSG00000020866
AA Change: G1160W

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: G1143W

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103415
Gene: ENSMUSG00000020866
AA Change: G1143W

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 damaging
Transcript: ENSMUST00000107788
AA Change: G1183W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103417
Gene: ENSMUSG00000020866
AA Change: G1183W

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 possibly damaging
Transcript: ENSMUST00000107789
AA Change: G1183W

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103418
Gene: ENSMUSG00000020866
AA Change: G1183W

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 noncoding transcript
Transcript: ENSMUST00000152811
Predicted Effect probably damaging
Transcript: ENSMUST00000107790
AA Change: G1160W

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103419
Gene: ENSMUSG00000020866
AA Change: G1160W

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: ENSMUST00000107792
AA Change: G1160W

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103421
Gene: ENSMUSG00000020866
AA Change: G1160W

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: ENSMUST00000107791
AA Change: G1160W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103420
Gene: ENSMUSG00000020866
AA Change: G1160W

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 damaging
Transcript: ENSMUST00000107793
AA Change: G1183W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103422
Gene: ENSMUSG00000020866
AA Change: G1183W

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
Meta Mutation Damage Score 0.2745 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (111/114)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,471,843 (GRCm39) W1083R possibly damaging Het
Adamts10 T A 17: 33,747,726 (GRCm39) L54Q probably damaging Het
Ankrd24 A C 10: 81,479,149 (GRCm39) probably benign Het
Atg2b A G 12: 105,618,888 (GRCm39) S813P probably benign Het
Atp13a3 T A 16: 30,160,058 (GRCm39) I716F probably damaging Het
Atp6v1c1 T A 15: 38,689,420 (GRCm39) W294R probably damaging Het
Atrnl1 G T 19: 58,030,793 (GRCm39) A1312S probably benign Het
Bcl2 A T 1: 106,640,338 (GRCm39) H91Q possibly damaging Het
Cacna1c G A 6: 118,607,263 (GRCm39) Q1214* probably null Het
Capsl A T 15: 9,461,828 (GRCm39) M75L probably benign Het
Ccdc122 T G 14: 77,349,047 (GRCm39) probably benign Het
Ccdc57 T G 11: 120,772,683 (GRCm39) R645S possibly damaging Het
Cdh8 T A 8: 99,751,558 (GRCm39) R720* probably null Het
Cenpx T G 11: 120,602,610 (GRCm39) probably benign Het
Clic3 T C 2: 25,348,194 (GRCm39) S114P probably damaging Het
Cracdl A T 1: 37,664,046 (GRCm39) D617E probably benign Het
Crtac1 A T 19: 42,312,240 (GRCm39) W158R possibly damaging Het
Dennd2b C T 7: 109,156,240 (GRCm39) G170D probably damaging Het
Dhrs11 T A 11: 84,719,626 (GRCm39) Q33L probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dpp9 G T 17: 56,498,016 (GRCm39) Q647K probably damaging Het
Egf C T 3: 129,510,327 (GRCm39) G64D probably damaging Het
Eif2b4 C T 5: 31,346,864 (GRCm39) probably benign Het
Epas1 A G 17: 87,113,267 (GRCm39) N151S probably benign Het
Fastkd1 A T 2: 69,521,651 (GRCm39) I707K probably benign Het
Fbln2 A G 6: 91,246,168 (GRCm39) T1005A probably benign Het
Fgfrl1 T A 5: 108,851,363 (GRCm39) Y93* probably null Het
Fktn A G 4: 53,744,637 (GRCm39) T306A probably benign Het
Gabbr2 T G 4: 46,991,139 (GRCm39) Y96S possibly damaging Het
Gm16332 A T 1: 139,819,396 (GRCm39) noncoding transcript Het
Gm5145 G T 17: 20,790,810 (GRCm39) V63F probably damaging Het
Gm9970 G T 5: 31,398,429 (GRCm39) probably benign Het
Gpr158 A G 2: 21,787,993 (GRCm39) T545A probably damaging Het
Heatr1 G A 13: 12,426,929 (GRCm39) E685K probably benign Het
Herc6 A T 6: 57,581,151 (GRCm39) I284F probably damaging Het
Hook1 C G 4: 95,890,794 (GRCm39) A301G possibly damaging Het
Hpcal4 T A 4: 123,084,491 (GRCm39) M140K possibly damaging Het
Il11ra1 T C 4: 41,766,096 (GRCm39) probably benign Het
Ildr1 A T 16: 36,542,917 (GRCm39) H439L possibly damaging Het
Itga11 A G 9: 62,684,009 (GRCm39) probably null Het
Jag2 A T 12: 112,880,252 (GRCm39) D337E probably benign Het
Krt82 C T 15: 101,458,923 (GRCm39) R39Q probably benign Het
L3mbtl4 T A 17: 68,666,475 (GRCm39) M1K probably null Het
Lrrc32 T G 7: 98,148,224 (GRCm39) F335V probably damaging Het
Lurap1l T A 4: 80,829,650 (GRCm39) V20E probably damaging Het
Lyar T A 5: 38,385,230 (GRCm39) V90D possibly damaging Het
Man2c1 C T 9: 57,048,469 (GRCm39) R778* probably null Het
Mapk6 A G 9: 75,295,714 (GRCm39) F595L probably benign Het
Mccc1 A G 3: 36,039,150 (GRCm39) I281T probably damaging Het
Mep1b T C 18: 21,226,311 (GRCm39) V391A probably damaging Het
Mier1 G A 4: 102,988,195 (GRCm39) D40N probably damaging Het
Mkx T C 18: 7,002,432 (GRCm39) H38R probably benign Het
Mroh4 A G 15: 74,498,028 (GRCm39) L184P probably damaging Het
Muc2 C A 7: 141,307,877 (GRCm39) N834K probably benign Het
Mycl A G 4: 122,894,049 (GRCm39) D283G probably damaging Het
Myh6 T C 14: 55,190,750 (GRCm39) N975S probably damaging Het
Myl12a A G 17: 71,303,297 (GRCm39) probably benign Het
Mysm1 T C 4: 94,853,910 (GRCm39) T230A probably benign Het
Naca A G 10: 127,883,672 (GRCm39) K2099R probably null Het
Nbeal1 T G 1: 60,261,352 (GRCm39) probably null Het
Nedd1 A G 10: 92,534,772 (GRCm39) V246A probably benign Het
Nid2 A G 14: 19,839,829 (GRCm39) D806G probably benign Het
Ninl G A 2: 150,801,801 (GRCm39) R156* probably null Het
Obscn T A 11: 58,960,685 (GRCm39) I3418F probably damaging Het
Or8g37 T A 9: 39,731,193 (GRCm39) V86E probably benign Het
Pappa2 T C 1: 158,684,949 (GRCm39) N730S probably damaging Het
Pcm1 G A 8: 41,746,715 (GRCm39) D1305N probably damaging Het
Pcsk4 A T 10: 80,158,938 (GRCm39) I485N probably damaging Het
Phldb2 T C 16: 45,646,237 (GRCm39) R111G probably damaging Het
Prdm10 T C 9: 31,252,569 (GRCm39) F385S probably damaging Het
Prkcsh C T 9: 21,923,034 (GRCm39) P351L probably damaging Het
Prrc2a G A 17: 35,369,018 (GRCm39) P2006L probably damaging Het
Rad51c T C 11: 87,286,204 (GRCm39) D251G probably damaging Het
Radil A G 5: 142,470,918 (GRCm39) F1088L probably benign Het
Rere C A 4: 150,699,624 (GRCm39) probably benign Het
Rnf167 T A 11: 70,540,961 (GRCm39) C196S probably benign Het
Robo2 T A 16: 74,149,633 (GRCm39) Y65F probably damaging Het
Scarf2 G A 16: 17,621,371 (GRCm39) C319Y probably damaging Het
Sec24c A G 14: 20,743,780 (GRCm39) D995G probably damaging Het
Selenbp1 T C 3: 94,851,211 (GRCm39) L369S probably benign Het
Sgpl1 A T 10: 60,959,123 (GRCm39) I53K possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc1a6 A T 10: 78,635,952 (GRCm39) Y339F probably damaging Het
Smchd1 G T 17: 71,667,048 (GRCm39) Y1781* probably null Het
Smg1 T C 7: 117,779,697 (GRCm39) S1233G probably benign Het
Snap91 A T 9: 86,665,507 (GRCm39) probably benign Het
Snx29 T A 16: 11,238,600 (GRCm39) L112Q probably damaging Het
Sptbn5 T C 2: 119,889,622 (GRCm39) probably benign Het
Srl A T 16: 4,310,222 (GRCm39) H502Q possibly damaging Het
St8sia3 A G 18: 64,404,820 (GRCm39) M366V probably benign Het
Stk19 A T 17: 35,041,485 (GRCm39) probably benign Het
Syngap1 G A 17: 27,180,423 (GRCm39) A611T probably benign Het
Tas2r113 A G 6: 132,870,670 (GRCm39) T233A possibly damaging Het
Tbcc G A 17: 47,202,145 (GRCm39) W177* probably null Het
Tcstv3 T A 13: 120,779,618 (GRCm39) probably null Het
Trav13-5 T A 14: 54,033,408 (GRCm39) C106S probably damaging Het
Trmt61a G A 12: 111,645,147 (GRCm39) V28M possibly damaging Het
Ubap2l G A 3: 89,928,210 (GRCm39) T553M probably damaging Het
Urb1 T C 16: 90,554,715 (GRCm39) N1839S probably benign Het
Ush2a T C 1: 188,475,742 (GRCm39) L2893P probably damaging Het
Usp24 G A 4: 106,217,359 (GRCm39) V421M possibly damaging Het
Vmn1r43 T C 6: 89,846,892 (GRCm39) E198G probably benign Het
Vps13d A C 4: 144,904,626 (GRCm39) S130A probably damaging Het
Zfp426 T A 9: 20,382,310 (GRCm39) I211F probably benign Het
Znfx1 T C 2: 166,880,489 (GRCm39) probably null 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
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
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'- TTATACTGCTGCCTGGCCAAG -3'
(R):5'- AGAAGTGAAGGCCCTTGCAG -3'

Sequencing Primer
(F):5'- TCTCTGAAGACCCAGGGTGAG -3'
(R):5'- TTACCCTGCAGCCAAGTG -3'
Posted On 2016-02-04