Incidental Mutation 'R0812:Cacna1h'
ID 262322
Institutional Source Beutler Lab
Gene Symbol Cacna1h
Ensembl Gene ENSMUSG00000024112
Gene Name calcium channel, voltage-dependent, T type, alpha 1H subunit
Synonyms alpha13.2, T-type Cav3.2, Cav3.2
MMRRC Submission 038992-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0812 (G1)
Quality Score 215
Status Not validated
Chromosome 17
Chromosomal Location 25593259-25652757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25607602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 905 (L905P)
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: L905P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: L905P

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: L799P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: L799P

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 probably damaging
Transcript: ENSMUST00000159610
AA Change: L905P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: L905P

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 noncoding transcript
Transcript: ENSMUST00000161454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162820
Meta Mutation Damage Score 0.9730 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 96.8%
  • 20x: 91.7%
Validation Efficiency 96% (52/54)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,763,229 (GRCm39) S586P probably damaging Het
Abcc3 G A 11: 94,266,028 (GRCm39) probably benign Het
Ap5z1 G A 5: 142,461,546 (GRCm39) R583H probably benign Het
Arrb1 G T 7: 99,247,708 (GRCm39) V346L probably benign Het
Atrnl1 T A 19: 57,661,573 (GRCm39) F518I probably benign Het
Bank1 T A 3: 135,799,127 (GRCm39) I405F probably damaging Het
Cacna1c A G 6: 118,607,224 (GRCm39) C1227R probably benign Het
Cc2d1a A G 8: 84,860,465 (GRCm39) Y826H probably benign Het
Cenpo A G 12: 4,266,643 (GRCm39) V155A probably benign Het
Cnmd A G 14: 79,898,863 (GRCm39) F63S probably damaging Het
Cnn3 G A 3: 121,248,600 (GRCm39) G72D probably damaging Het
Cox10 A G 11: 63,962,539 (GRCm39) S101P probably benign Het
Ctdsp1 T C 1: 74,433,806 (GRCm39) V129A probably damaging Het
Cyp2d34 A T 15: 82,502,807 (GRCm39) S140T probably benign Het
Dennd5a G A 7: 109,532,820 (GRCm39) H317Y possibly damaging Het
Dnaaf9 A G 2: 130,555,334 (GRCm39) F858S probably damaging Het
Eef2 C CN 10: 81,014,603 (GRCm39) probably null Het
Enox1 T A 14: 77,819,876 (GRCm39) D210E probably damaging Het
Fam171a1 A G 2: 3,198,464 (GRCm39) N190S probably damaging Het
Fat2 T A 11: 55,144,459 (GRCm39) K4138N possibly damaging Het
Fat4 A T 3: 39,011,623 (GRCm39) D2241V probably damaging Het
Fbn1 C T 2: 125,245,090 (GRCm39) V266I possibly damaging Het
Foxf2 T A 13: 31,811,188 (GRCm39) Y376N probably damaging Het
Fras1 T A 5: 96,900,857 (GRCm39) S3025R probably benign Het
Gba1 T C 3: 89,111,307 (GRCm39) I24T probably benign Het
Gdpd5 A G 7: 99,087,540 (GRCm39) D68G probably damaging Het
Grid1 G A 14: 34,544,576 (GRCm39) S49N probably benign Het
Grtp1 T C 8: 13,229,639 (GRCm39) T250A possibly damaging Het
Gucy1b1 T C 3: 81,945,295 (GRCm39) N448D probably benign Het
H2-Ob A G 17: 34,463,100 (GRCm39) probably benign Het
Hcn4 A G 9: 58,730,795 (GRCm39) M1V probably null Het
Hmcn2 G A 2: 31,310,383 (GRCm39) A3326T probably damaging Het
Impg2 TACCACCACCACCACCACCACCACCA TACCACCACCACCACCACCACCA 16: 56,078,302 (GRCm39) probably benign Het
Ippk C A 13: 49,596,947 (GRCm39) Q254K probably damaging Het
Itga2 A T 13: 115,007,150 (GRCm39) L393I possibly damaging Het
Kcna10 A T 3: 107,102,575 (GRCm39) E402V possibly damaging Het
Kcnab1 G A 3: 65,205,141 (GRCm39) D119N probably damaging Het
Kcnip4 T A 5: 48,567,202 (GRCm39) T122S probably benign Het
Kcnma1 G A 14: 23,350,086 (GRCm39) P1151L probably damaging Het
Klhl22 T A 16: 17,610,453 (GRCm39) M568K probably benign Het
Krt6a C T 15: 101,601,183 (GRCm39) V257M probably damaging Het
Ksr2 A C 5: 117,693,290 (GRCm39) H246P probably damaging Het
Lca5 T C 9: 83,281,806 (GRCm39) D326G possibly damaging Het
Lcp1 A G 14: 75,451,928 (GRCm39) E393G probably benign Het
Leo1 G A 9: 75,352,831 (GRCm39) E125K probably benign Het
Lipt1 T A 1: 37,914,382 (GRCm39) V146E probably damaging Het
Mael A T 1: 166,062,968 (GRCm39) probably null Het
Mga C T 2: 119,778,442 (GRCm39) L1996F probably damaging Het
Mllt6 A G 11: 97,569,387 (GRCm39) N913S probably damaging Het
Mphosph9 A C 5: 124,436,822 (GRCm39) D507E probably damaging Het
Mvp G A 7: 126,586,728 (GRCm39) A801V probably benign Het
Ndrg2 A G 14: 52,146,119 (GRCm39) probably benign Het
Neb T C 2: 52,182,707 (GRCm39) D1053G possibly damaging Het
Nubp1 C A 16: 10,231,585 (GRCm39) L79I probably benign Het
Or1e1f G A 11: 73,856,246 (GRCm39) E271K probably benign Het
Or1o2 A C 17: 37,543,223 (GRCm39) L13V probably benign Het
Or8d2 G A 9: 38,759,805 (GRCm39) V132I probably benign Het
Pnpla8 G A 12: 44,330,188 (GRCm39) V29M probably benign Het
Psmb2 T A 4: 126,601,350 (GRCm39) I151N possibly damaging Het
Ptgs2 C T 1: 149,977,105 (GRCm39) T104I probably benign Het
Ptpro A G 6: 137,345,077 (GRCm39) T28A probably benign Het
Raf1 A G 6: 115,603,671 (GRCm39) probably null Het
Ranbp2 T C 10: 58,301,351 (GRCm39) M668T probably benign Het
Rbm48 A T 5: 3,641,760 (GRCm39) probably null Het
Rhag A T 17: 41,142,469 (GRCm39) T225S possibly damaging Het
Rhof A C 5: 123,269,950 (GRCm39) L69R probably damaging Het
Slc24a5 T C 2: 124,910,724 (GRCm39) S52P probably damaging Het
Slc8a2 T C 7: 15,875,039 (GRCm39) V429A probably damaging Het
Slfn10-ps G A 11: 82,926,388 (GRCm39) noncoding transcript Het
Spam1 G A 6: 24,796,886 (GRCm39) R279H probably damaging Het
Srfbp1 A G 18: 52,620,588 (GRCm39) D102G probably damaging Het
Srrm3 A C 5: 135,902,136 (GRCm39) probably benign Het
Tk1 T C 11: 117,712,933 (GRCm39) E98G probably damaging Het
Trim13 G A 14: 61,843,149 (GRCm39) V389I probably benign Het
Ttc28 A T 5: 111,383,366 (GRCm39) Y1289F probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ugt1a10 T A 1: 87,983,904 (GRCm39) V234D probably benign Het
Vmn2r18 C A 5: 151,496,395 (GRCm39) probably benign Het
Vmn2r75 C T 7: 85,814,575 (GRCm39) G306E probably benign Het
Vmn2r86 C T 10: 130,289,497 (GRCm39) V133I probably benign Het
Vps13c C A 9: 67,841,758 (GRCm39) Q1927K probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp219 T A 14: 52,244,395 (GRCm39) T550S probably benign Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp507 G A 7: 35,502,048 (GRCm39) probably benign Het
Zfp97 T A 17: 17,365,552 (GRCm39) F350L possibly damaging Het
Other mutations in Cacna1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Cacna1h APN 17 25,600,482 (GRCm39) missense probably damaging 1.00
IGL01412:Cacna1h APN 17 25,610,924 (GRCm39) missense probably benign 0.24
IGL01625:Cacna1h APN 17 25,604,686 (GRCm39) missense possibly damaging 0.95
IGL01625:Cacna1h APN 17 25,602,459 (GRCm39) missense probably damaging 0.97
IGL01684:Cacna1h APN 17 25,607,690 (GRCm39) missense probably damaging 1.00
IGL01862:Cacna1h APN 17 25,602,457 (GRCm39) missense probably damaging 1.00
IGL01877:Cacna1h APN 17 25,607,024 (GRCm39) missense probably damaging 1.00
IGL02040:Cacna1h APN 17 25,616,585 (GRCm39) missense probably benign 0.10
IGL02190:Cacna1h APN 17 25,652,000 (GRCm39) missense probably benign
IGL02686:Cacna1h APN 17 25,604,723 (GRCm39) missense possibly damaging 0.80
IGL02883:Cacna1h APN 17 25,599,506 (GRCm39) missense probably damaging 1.00
IGL02945:Cacna1h APN 17 25,607,033 (GRCm39) missense probably damaging 1.00
IGL03025:Cacna1h APN 17 25,651,868 (GRCm39) nonsense probably null
IGL03095:Cacna1h APN 17 25,602,752 (GRCm39) unclassified probably benign
IGL03207:Cacna1h APN 17 25,610,307 (GRCm39) missense probably damaging 1.00
IGL02991:Cacna1h UTSW 17 25,610,286 (GRCm39) missense possibly damaging 0.56
IGL03097:Cacna1h UTSW 17 25,610,118 (GRCm39) missense probably damaging 1.00
R0010:Cacna1h UTSW 17 25,599,818 (GRCm39) missense probably damaging 1.00
R0194:Cacna1h UTSW 17 25,599,898 (GRCm39) unclassified probably benign
R0361:Cacna1h UTSW 17 25,608,396 (GRCm39) missense probably damaging 1.00
R0501:Cacna1h UTSW 17 25,607,641 (GRCm39) missense probably damaging 1.00
R0558:Cacna1h UTSW 17 25,600,524 (GRCm39) missense probably damaging 1.00
R0588:Cacna1h UTSW 17 25,606,538 (GRCm39) missense probably damaging 1.00
R0626:Cacna1h UTSW 17 25,612,520 (GRCm39) missense possibly damaging 0.92
R0811:Cacna1h UTSW 17 25,607,602 (GRCm39) missense probably damaging 1.00
R0964:Cacna1h UTSW 17 25,597,749 (GRCm39) unclassified probably benign
R1351:Cacna1h UTSW 17 25,610,925 (GRCm39) missense probably benign 0.14
R1457:Cacna1h UTSW 17 25,616,594 (GRCm39) missense probably damaging 1.00
R1521:Cacna1h UTSW 17 25,616,328 (GRCm39) missense possibly damaging 0.57
R1564:Cacna1h UTSW 17 25,596,835 (GRCm39) nonsense probably null
R1611:Cacna1h UTSW 17 25,600,445 (GRCm39) missense probably damaging 1.00
R1669:Cacna1h UTSW 17 25,602,445 (GRCm39) missense probably damaging 1.00
R1835:Cacna1h UTSW 17 25,611,050 (GRCm39) missense probably benign 0.01
R1858:Cacna1h UTSW 17 25,599,781 (GRCm39) missense probably damaging 1.00
R1887:Cacna1h UTSW 17 25,595,861 (GRCm39) missense probably benign 0.01
R2039:Cacna1h UTSW 17 25,610,819 (GRCm39) missense probably benign 0.03
R2091:Cacna1h UTSW 17 25,651,850 (GRCm39) missense possibly damaging 0.95
R2133:Cacna1h UTSW 17 25,602,502 (GRCm39) missense probably damaging 1.00
R2203:Cacna1h UTSW 17 25,599,234 (GRCm39) missense probably damaging 1.00
R2205:Cacna1h UTSW 17 25,599,234 (GRCm39) missense probably damaging 1.00
R2206:Cacna1h UTSW 17 25,603,987 (GRCm39) missense probably benign 0.10
R2207:Cacna1h UTSW 17 25,603,987 (GRCm39) missense probably benign 0.10
R2224:Cacna1h UTSW 17 25,604,917 (GRCm39) missense probably benign 0.03
R2226:Cacna1h UTSW 17 25,604,917 (GRCm39) missense probably benign 0.03
R2261:Cacna1h UTSW 17 25,652,139 (GRCm39) missense possibly damaging 0.91
R2361:Cacna1h UTSW 17 25,602,986 (GRCm39) missense probably damaging 1.00
R2917:Cacna1h UTSW 17 25,614,426 (GRCm39) missense probably damaging 0.97
R3031:Cacna1h UTSW 17 25,652,108 (GRCm39) missense probably damaging 0.99
R3856:Cacna1h UTSW 17 25,611,427 (GRCm39) missense probably damaging 1.00
R4230:Cacna1h UTSW 17 25,606,837 (GRCm39) missense probably damaging 1.00
R4408:Cacna1h UTSW 17 25,599,601 (GRCm39) missense probably damaging 1.00
R4687:Cacna1h UTSW 17 25,612,884 (GRCm39) missense possibly damaging 0.47
R4887:Cacna1h UTSW 17 25,596,261 (GRCm39) missense possibly damaging 0.86
R4895:Cacna1h UTSW 17 25,608,396 (GRCm39) missense probably damaging 0.99
R5067:Cacna1h UTSW 17 25,616,782 (GRCm39) missense probably damaging 1.00
R5077:Cacna1h UTSW 17 25,594,224 (GRCm39) missense probably benign 0.02
R5148:Cacna1h UTSW 17 25,606,519 (GRCm39) missense probably damaging 1.00
R5336:Cacna1h UTSW 17 25,611,205 (GRCm39) missense probably damaging 0.99
R5450:Cacna1h UTSW 17 25,602,160 (GRCm39) missense probably damaging 1.00
R5616:Cacna1h UTSW 17 25,596,641 (GRCm39) missense probably damaging 1.00
R5738:Cacna1h UTSW 17 25,606,023 (GRCm39) missense probably damaging 0.99
R5883:Cacna1h UTSW 17 25,595,896 (GRCm39) missense probably benign 0.00
R5954:Cacna1h UTSW 17 25,602,175 (GRCm39) missense probably damaging 1.00
R5961:Cacna1h UTSW 17 25,596,246 (GRCm39) missense probably benign 0.01
R6110:Cacna1h UTSW 17 25,610,250 (GRCm39) missense probably benign 0.10
R6125:Cacna1h UTSW 17 25,604,668 (GRCm39) missense probably benign 0.00
R6189:Cacna1h UTSW 17 25,616,818 (GRCm39) missense probably damaging 1.00
R6216:Cacna1h UTSW 17 25,597,793 (GRCm39) missense probably damaging 1.00
R6259:Cacna1h UTSW 17 25,616,630 (GRCm39) critical splice acceptor site probably null
R6296:Cacna1h UTSW 17 25,602,053 (GRCm39) missense probably damaging 1.00
R6394:Cacna1h UTSW 17 25,606,455 (GRCm39) missense probably benign 0.32
R6695:Cacna1h UTSW 17 25,612,714 (GRCm39) missense probably damaging 1.00
R6746:Cacna1h UTSW 17 25,600,524 (GRCm39) missense probably damaging 1.00
R6914:Cacna1h UTSW 17 25,604,013 (GRCm39) missense probably benign
R6942:Cacna1h UTSW 17 25,604,013 (GRCm39) missense probably benign
R6955:Cacna1h UTSW 17 25,607,030 (GRCm39) missense probably damaging 1.00
R7041:Cacna1h UTSW 17 25,612,977 (GRCm39) missense probably damaging 0.98
R7120:Cacna1h UTSW 17 25,610,481 (GRCm39) missense probably benign 0.31
R7125:Cacna1h UTSW 17 25,602,510 (GRCm39) missense probably damaging 0.99
R7182:Cacna1h UTSW 17 25,596,629 (GRCm39) missense probably damaging 1.00
R7270:Cacna1h UTSW 17 25,603,739 (GRCm39) missense probably damaging 1.00
R7274:Cacna1h UTSW 17 25,597,811 (GRCm39) missense probably damaging 1.00
R7319:Cacna1h UTSW 17 25,608,435 (GRCm39) missense possibly damaging 0.94
R7406:Cacna1h UTSW 17 25,604,600 (GRCm39) missense possibly damaging 0.56
R7634:Cacna1h UTSW 17 25,611,083 (GRCm39) missense possibly damaging 0.87
R7684:Cacna1h UTSW 17 25,608,346 (GRCm39) missense probably damaging 0.99
R7769:Cacna1h UTSW 17 25,604,779 (GRCm39) missense probably damaging 1.00
R7856:Cacna1h UTSW 17 25,608,451 (GRCm39) missense probably damaging 0.98
R7876:Cacna1h UTSW 17 25,594,225 (GRCm39) missense probably benign
R7898:Cacna1h UTSW 17 25,611,250 (GRCm39) missense probably damaging 1.00
R8038:Cacna1h UTSW 17 25,594,865 (GRCm39) missense probably damaging 0.97
R8042:Cacna1h UTSW 17 25,611,445 (GRCm39) nonsense probably null
R8139:Cacna1h UTSW 17 25,602,697 (GRCm39) missense probably damaging 1.00
R8391:Cacna1h UTSW 17 25,596,204 (GRCm39) missense probably benign 0.00
R8795:Cacna1h UTSW 17 25,612,538 (GRCm39) missense probably damaging 1.00
R9227:Cacna1h UTSW 17 25,599,856 (GRCm39) missense probably damaging 1.00
R9230:Cacna1h UTSW 17 25,599,856 (GRCm39) missense probably damaging 1.00
R9236:Cacna1h UTSW 17 25,600,424 (GRCm39) missense probably damaging 1.00
R9360:Cacna1h UTSW 17 25,594,336 (GRCm39) missense probably benign 0.00
R9476:Cacna1h UTSW 17 25,611,524 (GRCm39) missense probably damaging 1.00
R9567:Cacna1h UTSW 17 25,612,487 (GRCm39) missense probably damaging 1.00
R9696:Cacna1h UTSW 17 25,602,215 (GRCm39) missense possibly damaging 0.90
V1662:Cacna1h UTSW 17 25,596,283 (GRCm39) missense possibly damaging 0.68
Z1176:Cacna1h UTSW 17 25,610,224 (GRCm39) missense probably benign
Z1177:Cacna1h UTSW 17 25,612,558 (GRCm39) missense probably benign 0.15
Z1177:Cacna1h UTSW 17 25,610,352 (GRCm39) missense probably damaging 0.99
Z1177:Cacna1h UTSW 17 25,594,866 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-02-04