Incidental Mutation 'R5961:Cacna1h'
ID 471854
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 043247-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5961 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 25593259-25652757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25596246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1925 (M1925T)
Ref Sequence ENSEMBL: ENSMUSP00000125541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024999] [ENSMUST00000078496] [ENSMUST00000159048] [ENSMUST00000159610] [ENSMUST00000160377] [ENSMUST00000160485] [ENSMUST00000160920] [ENSMUST00000162021]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024999
SMART Domains Protein: ENSMUSP00000024999
Gene: ENSMUSG00000033200

DomainStartEndE-ValueType
Tryp_SPc 29 257 1.06e-87 SMART
transmembrane domain 274 296 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000078496
AA Change: M1925T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: M1925T

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: M1819T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: M1819T

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 benign
Transcript: ENSMUST00000159610
AA Change: M1925T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: M1925T

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: ENSMUST00000160377
SMART Domains Protein: ENSMUSP00000124008
Gene: ENSMUSG00000033200

DomainStartEndE-ValueType
Tryp_SPc 4 154 1.79e-30 SMART
transmembrane domain 171 193 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000161035
AA Change: M218T
SMART Domains Protein: ENSMUSP00000123906
Gene: ENSMUSG00000024112
AA Change: M218T

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: ENSMUST00000160485
SMART Domains Protein: ENSMUSP00000124721
Gene: ENSMUSG00000033200

DomainStartEndE-ValueType
Tryp_SPc 4 154 1.79e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160920
SMART Domains Protein: ENSMUSP00000123828
Gene: ENSMUSG00000033200

DomainStartEndE-ValueType
Tryp_SPc 1 184 7.18e-44 SMART
transmembrane domain 201 223 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161658
Predicted Effect probably benign
Transcript: ENSMUST00000162021
SMART Domains Protein: ENSMUSP00000125180
Gene: ENSMUSG00000033200

DomainStartEndE-ValueType
Tryp_SPc 5 111 2.35e-4 SMART
transmembrane domain 128 150 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.7%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 103,976,338 (GRCm39) L203P probably damaging Het
Aen C G 7: 78,556,907 (GRCm39) H252D probably damaging Het
Alkbh6 T A 7: 30,013,617 (GRCm39) probably null Het
Birc6 T C 17: 74,953,596 (GRCm39) V3286A probably damaging Het
Caprin2 A C 6: 148,765,038 (GRCm39) S554R probably damaging Het
Celsr3 T C 9: 108,708,993 (GRCm39) S1280P probably damaging Het
Cfap57 T C 4: 118,428,942 (GRCm39) E1008G probably benign Het
Csmd1 A G 8: 16,120,366 (GRCm39) I1813T probably damaging Het
Dnah10 A G 5: 124,888,546 (GRCm39) E3050G probably benign Het
Dnah2 A G 11: 69,321,974 (GRCm39) F3782S probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dnajc17 T C 2: 119,016,527 (GRCm39) T64A possibly damaging Het
Dvl3 T G 16: 20,349,729 (GRCm39) S567R possibly damaging Het
Epb41l1 T A 2: 156,363,706 (GRCm39) S738R probably benign Het
Exph5 T C 9: 53,288,555 (GRCm39) W1879R probably damaging Het
Fam83a T A 15: 57,872,992 (GRCm39) F274I possibly damaging Het
Ggt1 A G 10: 75,421,736 (GRCm39) probably null Het
Ido2 C T 8: 25,023,786 (GRCm39) V351M probably damaging Het
Kcnt2 A G 1: 140,435,440 (GRCm39) E469G possibly damaging Het
Kdm2b A G 5: 123,070,724 (GRCm39) S403P probably benign Het
Klhl2 C T 8: 65,202,818 (GRCm39) R460H probably damaging Het
Mfsd6l A G 11: 68,447,368 (GRCm39) Y73C possibly damaging Het
Mlec A T 5: 115,288,159 (GRCm39) C205* probably null Het
Mlx T C 11: 100,980,053 (GRCm39) Y129H probably damaging Het
Mmadhc T C 2: 50,181,421 (GRCm39) H83R probably damaging Het
Mmp16 T C 4: 17,853,842 (GRCm39) F41S probably benign Het
Mroh6 G A 15: 75,759,617 (GRCm39) Q187* probably null Het
Myh14 T A 7: 44,272,518 (GRCm39) E1437V probably damaging Het
Nrxn1 A C 17: 90,762,371 (GRCm39) L37R probably damaging Het
Or6c209 T C 10: 129,483,723 (GRCm39) M242T possibly damaging Het
Pkhd1l1 A C 15: 44,322,859 (GRCm39) R48S probably damaging Het
Prokr2 A G 2: 132,215,595 (GRCm39) Y128H possibly damaging Het
Prtg T C 9: 72,764,228 (GRCm39) V567A probably benign Het
Rbis T C 3: 14,676,124 (GRCm39) T26A possibly damaging Het
Srrm2 G A 17: 24,039,083 (GRCm39) probably benign Het
Stat4 A T 1: 52,104,543 (GRCm39) I115L possibly damaging Het
Tnxb G A 17: 34,937,609 (GRCm39) V3833M probably damaging Het
Ugt2b36 C T 5: 87,228,724 (GRCm39) probably null Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Usp47 T C 7: 111,652,523 (GRCm39) S47P probably damaging Het
Vps53 A G 11: 75,939,316 (GRCm39) Y696H probably damaging Het
Zfp384 T C 6: 125,000,997 (GRCm39) I23T probably damaging Het
Zfp804a A G 2: 82,088,346 (GRCm39) Y725C probably benign 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
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 PCR Primer
(F):5'- ATCTGAACTGTGTGGCCTGAG -3'
(R):5'- TCATGAAGCACCTGGAGGAG -3'

Sequencing Primer
(F):5'- GCCACGCTGCCCAATTTC -3'
(R):5'- CCGAGATCGAGCTGGAGATC -3'
Posted On 2017-03-31