Incidental Mutation 'R7898:Cacna1h'
ID 609845
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 045950-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7898 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 25593259-25652757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25611250 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 516 (H516L)
Ref Sequence ENSEMBL: ENSMUSP00000077586 (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: H516L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: H516L

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 benign
Transcript: ENSMUST00000159048
AA Change: H410L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: H410L

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: H516L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: H516L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,255,275 (GRCm39) probably null Het
Afg2a T G 3: 37,474,620 (GRCm39) M44R probably benign Het
Ankef1 C A 2: 136,395,618 (GRCm39) N649K probably benign Het
Arl5b T A 2: 15,079,869 (GRCm39) S147T probably damaging Het
Arnt2 A T 7: 83,918,155 (GRCm39) probably null Het
Ash1l A G 3: 88,890,932 (GRCm39) E937G possibly damaging Het
Asxl1 T G 2: 153,241,854 (GRCm39) S802R possibly damaging Het
Cad A G 5: 31,218,829 (GRCm39) Y550C probably damaging Het
Cdo1 A G 18: 46,861,157 (GRCm39) I18T probably benign Het
Cfap251 A T 5: 123,460,517 (GRCm39) I1160F probably damaging Het
Chd2 A G 7: 73,169,223 (GRCm39) probably null Het
Dbf4 A G 5: 8,458,232 (GRCm39) probably null Het
Dcdc2a A T 13: 25,286,361 (GRCm39) R132W possibly damaging Het
Dnah10 T C 5: 124,859,425 (GRCm39) S2131P probably damaging Het
Eef2k A G 7: 120,494,441 (GRCm39) Y599C probably damaging Het
Eno2 C T 6: 124,744,225 (GRCm39) probably null Het
Fam124b T A 1: 80,191,512 (GRCm39) probably benign Het
Fezf2 A G 14: 12,342,701 (GRCm38) I388T possibly damaging Het
Gbp11 T C 5: 105,472,798 (GRCm39) N542S probably benign Het
Gdpd1 T A 11: 86,932,639 (GRCm39) I229F probably damaging Het
Gria1 T A 11: 57,133,591 (GRCm39) V490E probably damaging Het
Grm8 G A 6: 27,762,422 (GRCm39) R268C probably damaging Het
Hectd4 T A 5: 121,469,880 (GRCm39) S2592T probably benign Het
Herpud1 C T 8: 95,118,828 (GRCm39) T194I probably benign Het
Hspa1b T C 17: 35,177,167 (GRCm39) T273A probably benign Het
Iftap T A 2: 101,416,747 (GRCm39) K67N probably benign Het
Ighm T A 12: 113,384,873 (GRCm39) K327* probably null Het
Igkv3-4 A T 6: 70,649,297 (GRCm39) I99F probably damaging Het
Iqca1l T C 5: 24,758,643 (GRCm39) E117G probably damaging Het
Isl2 C A 9: 55,449,723 (GRCm39) S97R probably benign Het
Klhl12 A T 1: 134,386,219 (GRCm39) I4F probably benign Het
Lgalsl2 G A 7: 5,362,441 (GRCm39) R24H probably benign Het
Lrp2 T C 2: 69,271,710 (GRCm39) E4074G probably benign Het
Mcm3ap A G 10: 76,342,441 (GRCm39) N1645D probably damaging Het
Mettl23 T C 11: 116,736,679 (GRCm39) probably benign Het
Mettl24 A G 10: 40,686,478 (GRCm39) E285G probably benign Het
Mis18bp1 A G 12: 65,196,246 (GRCm39) L506P probably benign Het
Mup18 G T 4: 61,590,925 (GRCm39) probably null Het
Myom1 T C 17: 71,352,747 (GRCm39) L357P probably benign Het
Nkx2-9 G A 12: 56,659,031 (GRCm39) A61V probably benign Het
Or52n5 C T 7: 104,588,573 (GRCm39) A280V probably damaging Het
Pbx1 A T 1: 168,012,616 (GRCm39) M340K probably benign Het
Pcdhb17 A T 18: 37,618,233 (GRCm39) N8Y probably benign Het
Pex13 C A 11: 23,600,929 (GRCm39) probably null Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Plxnb1 A G 9: 108,943,408 (GRCm39) R1884G probably damaging Het
Polq T A 16: 36,865,245 (GRCm39) V699E probably damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Prr14l A T 5: 32,987,310 (GRCm39) H728Q probably benign Het
Prss12 T C 3: 123,300,145 (GRCm39) V752A possibly damaging Het
Prss56 A G 1: 87,111,921 (GRCm39) S51G probably benign Het
Pwp2 G A 10: 78,009,240 (GRCm39) R854W probably damaging Het
Rhobtb2 C T 14: 70,033,746 (GRCm39) C493Y probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rusf1 C A 7: 127,897,177 (GRCm39) A27S probably benign Het
Scap A G 9: 110,213,811 (GRCm39) N1258S possibly damaging Het
Sec31a C T 5: 100,547,336 (GRCm39) G218R probably damaging Het
Siglec15 A T 18: 78,086,914 (GRCm39) M315K probably benign Het
Slc17a6 G A 7: 51,308,573 (GRCm39) probably null Het
Smchd1 T C 17: 71,684,813 (GRCm39) probably null Het
Spag4 A T 2: 155,911,244 (GRCm39) D393V probably damaging Het
Sulf1 A G 1: 12,875,518 (GRCm39) N176S probably damaging Het
Tmem9 T A 1: 135,955,125 (GRCm39) probably null Het
Tnpo3 T C 6: 29,565,223 (GRCm39) I577V probably benign Het
Tti1 A C 2: 157,835,390 (GRCm39) I956S probably benign Het
Wdr81 T C 11: 75,344,725 (GRCm39) R181G probably benign Het
Zfp462 T A 4: 55,012,995 (GRCm39) C1654S probably damaging Het
Zfp74 A T 7: 29,635,380 (GRCm39) C109* probably null Het
Znrf4 A G 17: 56,818,681 (GRCm39) C209R probably damaging Het
Zzef1 T G 11: 72,687,373 (GRCm39) L84R probably 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
R0812: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
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 PCR Primer
(F):5'- TGGTAGATACTGTGCACAGACTC -3'
(R):5'- TGTCCAACGACAGCACTCTG -3'

Sequencing Primer
(F):5'- TAGATACTGTGCACAGACTCAGAGTC -3'
(R):5'- ACAGCACTCTGGCCAGCTTC -3'
Posted On 2019-12-20