Incidental Mutation 'R6746:Cacna1h'
ID 532861
Institutional Source Beutler Lab
Gene Symbol Cacna1h
Ensembl Gene ENSMUSG00000024112
Gene Name calcium channel, voltage-dependent, T type, alpha 1H subunit
Synonyms Cav3.2, alpha13.2, T-type Cav3.2
MMRRC Submission 044863-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6746 (G1)
Quality Score 196.009
Status Validated
Chromosome 17
Chromosomal Location 25374285-25433783 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25381550 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1606 (A1606T)
Ref Sequence ENSEMBL: ENSMUSP00000125541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078496] [ENSMUST00000159048] [ENSMUST00000159610]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000078496
AA Change: A1606T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: A1606T

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
Pfam:Ion_trans 138 418 8.4e-65 PFAM
low complexity region 500 511 N/A INTRINSIC
low complexity region 515 531 N/A INTRINSIC
low complexity region 557 568 N/A INTRINSIC
low complexity region 708 723 N/A INTRINSIC
Pfam:Ion_trans 824 1011 4.7e-46 PFAM
low complexity region 1130 1147 N/A INTRINSIC
low complexity region 1248 1259 N/A INTRINSIC
Pfam:Ion_trans 1341 1565 4.5e-56 PFAM
low complexity region 1576 1602 N/A INTRINSIC
Pfam:Ion_trans 1656 1864 7.8e-48 PFAM
Pfam:PKD_channel 1714 1871 1.2e-10 PFAM
Blast:Tryp_SPc 1915 2077 1e-38 BLAST
low complexity region 2086 2097 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159048
AA Change: A1500T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: A1500T

DomainStartEndE-ValueType
Pfam:Ion_trans 32 312 8e-65 PFAM
low complexity region 394 405 N/A INTRINSIC
low complexity region 409 425 N/A INTRINSIC
low complexity region 451 462 N/A INTRINSIC
low complexity region 602 617 N/A INTRINSIC
Pfam:Ion_trans 718 905 4.6e-46 PFAM
low complexity region 1024 1041 N/A INTRINSIC
low complexity region 1142 1153 N/A INTRINSIC
Pfam:Ion_trans 1235 1459 4.3e-56 PFAM
low complexity region 1470 1496 N/A INTRINSIC
Pfam:PKD_channel 1524 1608 1.6e-6 PFAM
Pfam:Ion_trans 1550 1758 7.6e-48 PFAM
Pfam:PKD_channel 1609 1765 1.2e-10 PFAM
Blast:Tryp_SPc 1809 1854 9e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159331
Predicted Effect probably damaging
Transcript: ENSMUST00000159610
AA Change: A1606T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: A1606T

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
Pfam:Ion_trans 99 430 7e-79 PFAM
low complexity region 500 511 N/A INTRINSIC
low complexity region 515 531 N/A INTRINSIC
low complexity region 557 568 N/A INTRINSIC
low complexity region 708 723 N/A INTRINSIC
Pfam:Ion_trans 789 1023 2.4e-58 PFAM
low complexity region 1130 1147 N/A INTRINSIC
low complexity region 1248 1259 N/A INTRINSIC
Pfam:Ion_trans 1304 1577 4.5e-65 PFAM
Pfam:Ion_trans 1621 1876 4.2e-59 PFAM
Pfam:PKD_channel 1629 1715 9.3e-7 PFAM
Pfam:PKD_channel 1713 1871 2.2e-11 PFAM
Blast:Tryp_SPc 1915 2077 1e-38 BLAST
low complexity region 2086 2097 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161035
SMART Domains Protein: ENSMUSP00000123906
Gene: ENSMUSG00000024112

DomainStartEndE-ValueType
Pfam:Ion_trans 1 73 2.1e-9 PFAM
Pfam:Ion_trans 72 170 2.8e-17 PFAM
Blast:Tryp_SPc 209 291 3e-13 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000161658
Meta Mutation Damage Score 0.1646 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: Voltage-dependent Ca(2+) channels mediate the entry of Ca(2+) ions into excitable cells and are involved in a variety of Ca(2+)-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. The protein encoded by this gene is an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,346,221 (GRCm38) L79* probably null Het
Acot3 A G 12: 84,053,474 (GRCm38) N8S probably benign Het
Adora2a T C 10: 75,333,608 (GRCm38) V302A probably benign Het
Anpep A C 7: 79,839,185 (GRCm38) probably null Het
Arrb1 A G 7: 99,601,150 (GRCm38) K392E probably benign Het
Atp8a1 A T 5: 67,751,049 (GRCm38) N444K probably benign Het
Brinp2 C T 1: 158,266,590 (GRCm38) G181R probably benign Het
Cacna1g A T 11: 94,409,427 (GRCm38) C2184* probably null Het
Ccdc155 C T 7: 45,200,311 (GRCm38) V63I probably benign Het
Ccdc30 T C 4: 119,356,718 (GRCm38) T205A probably benign Het
Celsr1 A G 15: 86,031,495 (GRCm38) I759T probably damaging Het
Chaf1a A G 17: 56,063,404 (GRCm38) D623G possibly damaging Het
Col6a3 G T 1: 90,779,045 (GRCm38) N2115K unknown Het
Dync1h1 A T 12: 110,651,653 (GRCm38) T3209S probably damaging Het
Erich6 T C 3: 58,616,566 (GRCm38) D629G possibly damaging Het
Fahd1 G T 17: 24,849,941 (GRCm38) A54E probably damaging Het
Flrt3 C T 2: 140,660,025 (GRCm38) R561Q probably damaging Het
Gm5415 A T 1: 32,546,763 (GRCm38) I22N probably benign Het
Grm6 A T 11: 50,856,963 (GRCm38) D334V probably damaging Het
Helb A T 10: 120,105,468 (GRCm38) D438E probably damaging Het
Hmgcs1 T C 13: 119,695,049 (GRCm38) probably null Het
Hnf4g C A 3: 3,657,110 (GRCm38) Y441* probably null Het
Hrasls5 A G 19: 7,613,330 (GRCm38) D74G probably benign Het
Hspa13 A T 16: 75,765,037 (GRCm38) N91K possibly damaging Het
Ilvbl T C 10: 78,577,223 (GRCm38) I193T possibly damaging Het
Itga7 T C 10: 128,949,472 (GRCm38) V848A probably benign Het
Lpin1 A G 12: 16,565,528 (GRCm38) M341T probably benign Het
Lypd5 G T 7: 24,353,106 (GRCm38) probably null Het
Mrgprb1 A C 7: 48,447,897 (GRCm38) V89G possibly damaging Het
Nsun7 T C 5: 66,283,737 (GRCm38) probably null Het
Oasl1 T A 5: 114,937,183 (GRCm38) V434E probably damaging Het
Olfr1008 T C 2: 85,689,608 (GRCm38) Y60H probably damaging Het
Olfr319 G A 11: 58,702,543 (GRCm38) V281I probably benign Het
Olfr837 A G 9: 19,137,478 (GRCm38) M162V probably benign Het
Otor T A 2: 143,080,035 (GRCm38) probably null Het
Pik3cg G A 12: 32,194,758 (GRCm38) T899M probably damaging Het
Pld2 C A 11: 70,541,107 (GRCm38) L52M probably damaging Het
Pon3 A T 6: 5,230,786 (GRCm38) M247K possibly damaging Het
Ppfia2 C A 10: 106,906,458 (GRCm38) Y1037* probably null Het
Ppm1m A T 9: 106,198,152 (GRCm38) C99* probably null Het
Prss44 A T 9: 110,815,293 (GRCm38) *145C probably null Het
Ptpro T A 6: 137,394,823 (GRCm38) Y613N probably damaging Het
Ralgapb T G 2: 158,476,136 (GRCm38) V866G probably damaging Het
Rassf6 C A 5: 90,609,774 (GRCm38) R109L possibly damaging Het
Rbm4b A C 19: 4,762,003 (GRCm38) T147P probably benign Het
Rpl7l1 T C 17: 46,779,396 (GRCm38) K104R probably benign Het
Ryr1 A T 7: 29,117,404 (GRCm38) I69N possibly damaging Het
Scd1 G T 19: 44,406,488 (GRCm38) F99L probably benign Het
Spint2 A T 7: 29,259,423 (GRCm38) S66T probably benign Het
Tarm1 T A 7: 3,502,462 (GRCm38) I2F probably benign Het
Tenm4 T C 7: 96,892,860 (GRCm38) V1860A probably damaging Het
Uhrf1bp1l T A 10: 89,787,158 (GRCm38) N298K probably benign Het
Usp38 A G 8: 81,014,291 (GRCm38) I49T possibly damaging Het
Vars2 A G 17: 35,660,402 (GRCm38) probably null Het
Vmn2r27 T G 6: 124,200,593 (GRCm38) H484P possibly damaging Het
Wdr35 T A 12: 9,003,982 (GRCm38) probably null Het
Zfp937 A T 2: 150,239,423 (GRCm38) K458* probably null Het
Other mutations in Cacna1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Cacna1h APN 17 25,381,508 (GRCm38) missense probably damaging 1.00
IGL01412:Cacna1h APN 17 25,391,950 (GRCm38) missense probably benign 0.24
IGL01625:Cacna1h APN 17 25,385,712 (GRCm38) missense possibly damaging 0.95
IGL01625:Cacna1h APN 17 25,383,485 (GRCm38) missense probably damaging 0.97
IGL01684:Cacna1h APN 17 25,388,716 (GRCm38) missense probably damaging 1.00
IGL01862:Cacna1h APN 17 25,383,483 (GRCm38) missense probably damaging 1.00
IGL01877:Cacna1h APN 17 25,388,050 (GRCm38) missense probably damaging 1.00
IGL02040:Cacna1h APN 17 25,397,611 (GRCm38) missense probably benign 0.10
IGL02190:Cacna1h APN 17 25,433,026 (GRCm38) missense probably benign
IGL02686:Cacna1h APN 17 25,385,749 (GRCm38) missense possibly damaging 0.80
IGL02883:Cacna1h APN 17 25,380,532 (GRCm38) missense probably damaging 1.00
IGL02945:Cacna1h APN 17 25,388,059 (GRCm38) missense probably damaging 1.00
IGL03025:Cacna1h APN 17 25,432,894 (GRCm38) nonsense probably null
IGL03095:Cacna1h APN 17 25,383,778 (GRCm38) unclassified probably benign
IGL03207:Cacna1h APN 17 25,391,333 (GRCm38) missense probably damaging 1.00
IGL02991:Cacna1h UTSW 17 25,391,312 (GRCm38) missense possibly damaging 0.56
IGL03097:Cacna1h UTSW 17 25,391,144 (GRCm38) missense probably damaging 1.00
R0010:Cacna1h UTSW 17 25,380,844 (GRCm38) missense probably damaging 1.00
R0194:Cacna1h UTSW 17 25,380,924 (GRCm38) unclassified probably benign
R0361:Cacna1h UTSW 17 25,389,422 (GRCm38) missense probably damaging 1.00
R0501:Cacna1h UTSW 17 25,388,667 (GRCm38) missense probably damaging 1.00
R0558:Cacna1h UTSW 17 25,381,550 (GRCm38) missense probably damaging 1.00
R0588:Cacna1h UTSW 17 25,387,564 (GRCm38) missense probably damaging 1.00
R0626:Cacna1h UTSW 17 25,393,546 (GRCm38) missense possibly damaging 0.92
R0811:Cacna1h UTSW 17 25,388,628 (GRCm38) missense probably damaging 1.00
R0812:Cacna1h UTSW 17 25,388,628 (GRCm38) missense probably damaging 1.00
R0964:Cacna1h UTSW 17 25,378,775 (GRCm38) unclassified probably benign
R1351:Cacna1h UTSW 17 25,391,951 (GRCm38) missense probably benign 0.14
R1457:Cacna1h UTSW 17 25,397,620 (GRCm38) missense probably damaging 1.00
R1521:Cacna1h UTSW 17 25,397,354 (GRCm38) missense possibly damaging 0.57
R1564:Cacna1h UTSW 17 25,377,861 (GRCm38) nonsense probably null
R1611:Cacna1h UTSW 17 25,381,471 (GRCm38) missense probably damaging 1.00
R1669:Cacna1h UTSW 17 25,383,471 (GRCm38) missense probably damaging 1.00
R1835:Cacna1h UTSW 17 25,392,076 (GRCm38) missense probably benign 0.01
R1858:Cacna1h UTSW 17 25,380,807 (GRCm38) missense probably damaging 1.00
R1887:Cacna1h UTSW 17 25,376,887 (GRCm38) missense probably benign 0.01
R2039:Cacna1h UTSW 17 25,391,845 (GRCm38) missense probably benign 0.03
R2091:Cacna1h UTSW 17 25,432,876 (GRCm38) missense possibly damaging 0.95
R2133:Cacna1h UTSW 17 25,383,528 (GRCm38) missense probably damaging 1.00
R2203:Cacna1h UTSW 17 25,380,260 (GRCm38) missense probably damaging 1.00
R2205:Cacna1h UTSW 17 25,380,260 (GRCm38) missense probably damaging 1.00
R2206:Cacna1h UTSW 17 25,385,013 (GRCm38) missense probably benign 0.10
R2207:Cacna1h UTSW 17 25,385,013 (GRCm38) missense probably benign 0.10
R2224:Cacna1h UTSW 17 25,385,943 (GRCm38) missense probably benign 0.03
R2226:Cacna1h UTSW 17 25,385,943 (GRCm38) missense probably benign 0.03
R2261:Cacna1h UTSW 17 25,433,165 (GRCm38) missense possibly damaging 0.91
R2361:Cacna1h UTSW 17 25,384,012 (GRCm38) missense probably damaging 1.00
R2917:Cacna1h UTSW 17 25,395,452 (GRCm38) missense probably damaging 0.97
R3031:Cacna1h UTSW 17 25,433,134 (GRCm38) missense probably damaging 0.99
R3856:Cacna1h UTSW 17 25,392,453 (GRCm38) missense probably damaging 1.00
R4230:Cacna1h UTSW 17 25,387,863 (GRCm38) missense probably damaging 1.00
R4408:Cacna1h UTSW 17 25,380,627 (GRCm38) missense probably damaging 1.00
R4687:Cacna1h UTSW 17 25,393,910 (GRCm38) missense possibly damaging 0.47
R4887:Cacna1h UTSW 17 25,377,287 (GRCm38) missense possibly damaging 0.86
R4895:Cacna1h UTSW 17 25,389,422 (GRCm38) missense probably damaging 0.99
R5067:Cacna1h UTSW 17 25,397,808 (GRCm38) missense probably damaging 1.00
R5077:Cacna1h UTSW 17 25,375,250 (GRCm38) missense probably benign 0.02
R5148:Cacna1h UTSW 17 25,387,545 (GRCm38) missense probably damaging 1.00
R5336:Cacna1h UTSW 17 25,392,231 (GRCm38) missense probably damaging 0.99
R5450:Cacna1h UTSW 17 25,383,186 (GRCm38) missense probably damaging 1.00
R5616:Cacna1h UTSW 17 25,377,667 (GRCm38) missense probably damaging 1.00
R5738:Cacna1h UTSW 17 25,387,049 (GRCm38) missense probably damaging 0.99
R5883:Cacna1h UTSW 17 25,376,922 (GRCm38) missense probably benign 0.00
R5954:Cacna1h UTSW 17 25,383,201 (GRCm38) missense probably damaging 1.00
R5961:Cacna1h UTSW 17 25,377,272 (GRCm38) missense probably benign 0.01
R6110:Cacna1h UTSW 17 25,391,276 (GRCm38) missense probably benign 0.10
R6125:Cacna1h UTSW 17 25,385,694 (GRCm38) missense probably benign 0.00
R6189:Cacna1h UTSW 17 25,397,844 (GRCm38) missense probably damaging 1.00
R6216:Cacna1h UTSW 17 25,378,819 (GRCm38) missense probably damaging 1.00
R6259:Cacna1h UTSW 17 25,397,656 (GRCm38) critical splice acceptor site probably null
R6296:Cacna1h UTSW 17 25,383,079 (GRCm38) missense probably damaging 1.00
R6394:Cacna1h UTSW 17 25,387,481 (GRCm38) missense probably benign 0.32
R6695:Cacna1h UTSW 17 25,393,740 (GRCm38) missense probably damaging 1.00
R6914:Cacna1h UTSW 17 25,385,039 (GRCm38) missense probably benign
R6942:Cacna1h UTSW 17 25,385,039 (GRCm38) missense probably benign
R6955:Cacna1h UTSW 17 25,388,056 (GRCm38) missense probably damaging 1.00
R7041:Cacna1h UTSW 17 25,394,003 (GRCm38) missense probably damaging 0.98
R7120:Cacna1h UTSW 17 25,391,507 (GRCm38) missense probably benign 0.31
R7125:Cacna1h UTSW 17 25,383,536 (GRCm38) missense probably damaging 0.99
R7182:Cacna1h UTSW 17 25,377,655 (GRCm38) missense probably damaging 1.00
R7270:Cacna1h UTSW 17 25,384,765 (GRCm38) missense probably damaging 1.00
R7274:Cacna1h UTSW 17 25,378,837 (GRCm38) missense probably damaging 1.00
R7319:Cacna1h UTSW 17 25,389,461 (GRCm38) missense possibly damaging 0.94
R7406:Cacna1h UTSW 17 25,385,626 (GRCm38) missense possibly damaging 0.56
R7634:Cacna1h UTSW 17 25,392,109 (GRCm38) missense possibly damaging 0.87
R7684:Cacna1h UTSW 17 25,389,372 (GRCm38) missense probably damaging 0.99
R7769:Cacna1h UTSW 17 25,385,805 (GRCm38) missense probably damaging 1.00
R7856:Cacna1h UTSW 17 25,389,477 (GRCm38) missense probably damaging 0.98
R7876:Cacna1h UTSW 17 25,375,251 (GRCm38) missense probably benign
R7898:Cacna1h UTSW 17 25,392,276 (GRCm38) missense probably damaging 1.00
R8038:Cacna1h UTSW 17 25,375,891 (GRCm38) missense probably damaging 0.97
R8042:Cacna1h UTSW 17 25,392,471 (GRCm38) nonsense probably null
R8139:Cacna1h UTSW 17 25,383,723 (GRCm38) missense probably damaging 1.00
R8391:Cacna1h UTSW 17 25,377,230 (GRCm38) missense probably benign 0.00
R8795:Cacna1h UTSW 17 25,393,564 (GRCm38) missense probably damaging 1.00
R9227:Cacna1h UTSW 17 25,380,882 (GRCm38) missense probably damaging 1.00
R9230:Cacna1h UTSW 17 25,380,882 (GRCm38) missense probably damaging 1.00
R9236:Cacna1h UTSW 17 25,381,450 (GRCm38) missense probably damaging 1.00
R9360:Cacna1h UTSW 17 25,375,362 (GRCm38) missense probably benign 0.00
R9476:Cacna1h UTSW 17 25,392,550 (GRCm38) missense probably damaging 1.00
R9567:Cacna1h UTSW 17 25,393,513 (GRCm38) missense probably damaging 1.00
R9696:Cacna1h UTSW 17 25,383,241 (GRCm38) missense possibly damaging 0.90
V1662:Cacna1h UTSW 17 25,377,309 (GRCm38) missense possibly damaging 0.68
Z1176:Cacna1h UTSW 17 25,391,250 (GRCm38) missense probably benign
Z1177:Cacna1h UTSW 17 25,393,584 (GRCm38) missense probably benign 0.15
Z1177:Cacna1h UTSW 17 25,391,378 (GRCm38) missense probably damaging 0.99
Z1177:Cacna1h UTSW 17 25,375,892 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTGTAACACCAGCTCCGTG -3'
(R):5'- TCAAAGAAATCTTCTCTCCCCTAGC -3'

Sequencing Primer
(F):5'- ACCAGCTCCGTGTCCCC -3'
(R):5'- AATCTTCTCTCCCCTAGCCTGGG -3'
Posted On 2018-08-29