Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01470:Cacna1d'

88237

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cacna1d

Ensembl Gene

ENSMUSG00000015968

Gene Name

calcium channel, voltage-dependent, L type, alpha 1D subunit

Synonyms

Cacnl1a2, Cchl1a2, C79217, Cchl1a, Cav1.3alpha1, 8430418G19Rik, D-LTCC

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

IGL01470

Quality Score

Status

Chromosome

Chromosomal Location

29761898-30213113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29821099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1139 (V1139D)

Ref Sequence

ENSEMBL: ENSMUSP00000153293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112249] [ENSMUST00000112250] [ENSMUST00000223803] [ENSMUST00000224198] [ENSMUST00000224395] [ENSMUST00000224785]

AlphaFold

Q99246

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112249
AA Change: V1139D

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107868
Gene: ENSMUSG00000015968
AA Change: V1139D

Domain	Start	End	E-Value	Type
low complexity region	1	10	N/A	INTRINSIC
low complexity region	54	67	N/A	INTRINSIC
Pfam:Ion_trans	163	405	4.8e-59	PFAM
PDB:4DEY\|B	406	502	3e-38	PDB
low complexity region	503	517	N/A	INTRINSIC
Pfam:Ion_trans	557	751	5.5e-46	PFAM
low complexity region	766	781	N/A	INTRINSIC
low complexity region	819	840	N/A	INTRINSIC
Pfam:Ion_trans	921	1151	7.2e-51	PFAM
Pfam:Ion_trans	1239	1448	3.6e-67	PFAM
Pfam:PKD_channel	1285	1455	1.9e-9	PFAM
Blast:EFh	1469	1497	2e-9	BLAST
Ca_chan_IQ	1583	1617	5.05e-16	SMART
low complexity region	1649	1661	N/A	INTRINSIC
low complexity region	1722	1728	N/A	INTRINSIC
low complexity region	1830	1840	N/A	INTRINSIC
low complexity region	1885	1905	N/A	INTRINSIC
low complexity region	1921	1936	N/A	INTRINSIC
low complexity region	2122	2133	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112250
AA Change: V1161D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107869
Gene: ENSMUSG00000015968
AA Change: V1161D

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
Pfam:Ion_trans	147	439	5.6e-72	PFAM
low complexity region	473	482	N/A	INTRINSIC
low complexity region	525	539	N/A	INTRINSIC
Pfam:Ion_trans	544	784	2e-56	PFAM
low complexity region	788	803	N/A	INTRINSIC
low complexity region	841	862	N/A	INTRINSIC
Pfam:Ion_trans	907	1185	2.6e-63	PFAM
Pfam:Ion_trans	1226	1482	1.7e-70	PFAM
Pfam:PKD_channel	1306	1477	1.2e-9	PFAM
Pfam:GPHH	1484	1553	2.3e-38	PFAM
Ca_chan_IQ	1605	1639	5.05e-16	SMART
Pfam:CAC1F_C	1649	2165	1.1e-68	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223803
AA Change: V1139D

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224198
AA Change: V1159D

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000224395

Predicted Effect

probably damaging
Transcript: ENSMUST00000224785
AA Change: V1139D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

unknown
Transcript: ENSMUST00000224912
AA Change: V56D

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a pore-forming subunit of the L-type, voltage-activated calcium channel family. These channels have been found to play a role in heart and smooth muscle contraction and in the transmission of auditory information. Homozygous knockout mice for this gene exhibit deafness and heart defects. These channels have also been linked to mitochondrial oxidative stress in a mouse model of Parkinson's disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygotes for targeted mutations exhibit small size, hypoinsulinemia, glucose intolerance, decreased number and size of pancreatic islets, deafness with degeneration of hair cells, bradycardia, and arrhythmia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,382,414 (GRCm39)	T1184A	possibly damaging	Het
A2ml1	A	G	6: 128,557,375 (GRCm39)	I106T	probably damaging	Het
Asic4	C	T	1: 75,427,510 (GRCm39)	A12V	probably damaging	Het
Edc4	T	C	8: 106,616,613 (GRCm39)		probably benign	Het
Eif4h	A	T	5: 134,654,393 (GRCm39)		probably null	Het
Exog	C	A	9: 119,291,592 (GRCm39)	Q290K	probably damaging	Het
Fam83c	A	T	2: 155,676,728 (GRCm39)	I14K	possibly damaging	Het
Fes	A	T	7: 80,033,021 (GRCm39)	Y268N	probably benign	Het
Fhod1	A	G	8: 106,056,281 (GRCm39)	L1144P	probably damaging	Het
Frem3	C	T	8: 81,340,944 (GRCm39)	T1079I	probably damaging	Het
Gbp10	A	G	5: 105,368,980 (GRCm39)		probably benign	Het
Herc1	T	C	9: 66,404,918 (GRCm39)	V4496A	possibly damaging	Het
Lamb1	A	G	12: 31,350,261 (GRCm39)	R729G	possibly damaging	Het
Lifr	T	A	15: 7,205,147 (GRCm39)	C461*	probably null	Het
Lypd6	T	C	2: 50,078,795 (GRCm39)	V97A	probably benign	Het
Map3k5	A	G	10: 19,993,933 (GRCm39)	E973G	possibly damaging	Het
Mep1b	A	T	18: 21,230,524 (GRCm39)	N692I	probably benign	Het
Mrpl15	A	G	1: 4,846,754 (GRCm39)	V274A	probably damaging	Het
Naaa	A	G	5: 92,411,507 (GRCm39)	I264T	probably damaging	Het
Nlrp4c	T	C	7: 6,103,783 (GRCm39)	C906R	possibly damaging	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or4x11	T	C	2: 89,868,162 (GRCm39)	W300R	possibly damaging	Het
Or5b95	T	C	19: 12,658,035 (GRCm39)	S188P	possibly damaging	Het
Or8b38	A	T	9: 37,973,300 (GRCm39)	H228L	possibly damaging	Het
Or8k3	T	C	2: 86,058,628 (GRCm39)	N229S	probably benign	Het
Phc2	C	T	4: 128,616,903 (GRCm39)	T392I	probably benign	Het
Ptprg	G	A	14: 12,213,702 (GRCm38)	W248*	probably null	Het
Pzp	T	A	6: 128,498,087 (GRCm39)	E243D	probably benign	Het
Rbm33	T	A	5: 28,592,846 (GRCm39)	L542Q	probably damaging	Het
Recql4	G	A	15: 76,593,144 (GRCm39)	T229I	probably benign	Het
Ssbp3	T	C	4: 106,894,855 (GRCm39)		probably benign	Het
Tfap2d	A	T	1: 19,218,620 (GRCm39)	Q373L	probably damaging	Het
Timmdc1	A	G	16: 38,338,902 (GRCm39)		probably benign	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Vps13c	T	C	9: 67,820,209 (GRCm39)		probably benign	Het
Zfp551	A	G	7: 12,152,468 (GRCm39)		probably null	Het

Other mutations in Cacna1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Cacna1d	APN	14	29,818,907 (GRCm39)	missense	probably damaging	0.97
IGL00857:Cacna1d	APN	14	30,072,638 (GRCm39)	missense	possibly damaging	0.83
IGL01015:Cacna1d	APN	14	29,773,699 (GRCm39)	splice site	probably benign
IGL01420:Cacna1d	APN	14	29,773,595 (GRCm39)	missense	probably benign	0.01
IGL01560:Cacna1d	APN	14	29,821,163 (GRCm39)	missense	probably benign	0.00
IGL01617:Cacna1d	APN	14	29,824,328 (GRCm39)	missense	probably damaging	1.00
IGL01820:Cacna1d	APN	14	29,764,823 (GRCm39)	missense	possibly damaging	0.79
IGL01948:Cacna1d	APN	14	29,846,751 (GRCm39)	missense	probably damaging	1.00
IGL02702:Cacna1d	APN	14	29,845,490 (GRCm39)	nonsense	probably null
IGL02864:Cacna1d	APN	14	29,773,663 (GRCm39)	missense	probably benign	0.10
IGL03082:Cacna1d	APN	14	29,821,190 (GRCm39)	missense	probably damaging	1.00
Brisk	UTSW	14	29,893,271 (GRCm39)	missense	possibly damaging	0.91
Troppo	UTSW	14	29,845,411 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Cacna1d	UTSW	14	29,900,602 (GRCm39)	missense	probably damaging	1.00
R0015:Cacna1d	UTSW	14	29,836,928 (GRCm39)	missense	probably benign	0.00
R0015:Cacna1d	UTSW	14	29,836,928 (GRCm39)	missense	probably benign	0.00
R0033:Cacna1d	UTSW	14	29,827,446 (GRCm39)	missense	probably damaging	0.99
R0047:Cacna1d	UTSW	14	30,068,747 (GRCm39)	splice site	probably benign
R0047:Cacna1d	UTSW	14	30,068,747 (GRCm39)	splice site	probably benign
R0051:Cacna1d	UTSW	14	29,833,052 (GRCm39)	missense	probably damaging	1.00
R0051:Cacna1d	UTSW	14	29,833,052 (GRCm39)	missense	probably damaging	1.00
R0067:Cacna1d	UTSW	14	29,796,967 (GRCm39)	unclassified	probably benign
R0067:Cacna1d	UTSW	14	29,796,967 (GRCm39)	unclassified	probably benign
R0238:Cacna1d	UTSW	14	29,845,453 (GRCm39)	missense	probably benign	0.29
R0238:Cacna1d	UTSW	14	29,845,453 (GRCm39)	missense	probably benign	0.29
R0239:Cacna1d	UTSW	14	29,845,453 (GRCm39)	missense	probably benign	0.29
R0239:Cacna1d	UTSW	14	29,845,453 (GRCm39)	missense	probably benign	0.29
R0240:Cacna1d	UTSW	14	29,818,926 (GRCm39)	missense	probably benign	0.00
R0240:Cacna1d	UTSW	14	29,818,926 (GRCm39)	missense	probably benign	0.00
R0284:Cacna1d	UTSW	14	29,794,062 (GRCm39)	missense	probably damaging	1.00
R0416:Cacna1d	UTSW	14	29,822,645 (GRCm39)	splice site	probably benign
R0427:Cacna1d	UTSW	14	30,068,774 (GRCm39)	missense	probably damaging	0.99
R0517:Cacna1d	UTSW	14	29,901,232 (GRCm39)	missense	probably damaging	1.00
R0639:Cacna1d	UTSW	14	29,893,251 (GRCm39)	critical splice donor site	probably null
R0727:Cacna1d	UTSW	14	29,852,072 (GRCm39)	critical splice donor site	probably null
R0732:Cacna1d	UTSW	14	29,764,877 (GRCm39)	missense	probably damaging	0.99
R0843:Cacna1d	UTSW	14	29,846,828 (GRCm39)	missense	probably damaging	1.00
R0900:Cacna1d	UTSW	14	29,833,039 (GRCm39)	missense	probably damaging	1.00
R1278:Cacna1d	UTSW	14	29,900,660 (GRCm39)	missense	probably damaging	1.00
R1340:Cacna1d	UTSW	14	29,794,024 (GRCm39)	missense	probably damaging	0.96
R1527:Cacna1d	UTSW	14	29,829,753 (GRCm39)	missense	probably damaging	1.00
R1711:Cacna1d	UTSW	14	29,788,013 (GRCm39)	missense	probably damaging	1.00
R1736:Cacna1d	UTSW	14	29,811,820 (GRCm39)	missense	probably damaging	1.00
R1763:Cacna1d	UTSW	14	29,821,153 (GRCm39)	missense	probably benign	0.25
R2034:Cacna1d	UTSW	14	29,811,820 (GRCm39)	missense	probably damaging	1.00
R2086:Cacna1d	UTSW	14	29,769,314 (GRCm39)	missense	possibly damaging	0.83
R2126:Cacna1d	UTSW	14	29,845,120 (GRCm39)	missense	probably damaging	1.00
R2218:Cacna1d	UTSW	14	29,845,048 (GRCm39)	missense	probably damaging	1.00
R2219:Cacna1d	UTSW	14	29,764,047 (GRCm39)	missense	probably damaging	1.00
R2262:Cacna1d	UTSW	14	30,212,973 (GRCm39)	missense	possibly damaging	0.46
R2291:Cacna1d	UTSW	14	29,764,299 (GRCm39)	missense	probably damaging	1.00
R2399:Cacna1d	UTSW	14	29,774,444 (GRCm39)	missense	probably benign	0.34
R2424:Cacna1d	UTSW	14	29,770,980 (GRCm39)	missense	probably damaging	0.96
R2568:Cacna1d	UTSW	14	29,804,468 (GRCm39)	missense	probably damaging	0.99
R4038:Cacna1d	UTSW	14	29,788,040 (GRCm39)	missense	probably damaging	0.96
R4509:Cacna1d	UTSW	14	29,818,928 (GRCm39)	missense	probably damaging	1.00
R4649:Cacna1d	UTSW	14	29,817,365 (GRCm39)	missense	probably benign
R4650:Cacna1d	UTSW	14	29,817,365 (GRCm39)	missense	probably benign
R4652:Cacna1d	UTSW	14	29,817,365 (GRCm39)	missense	probably benign
R5009:Cacna1d	UTSW	14	29,801,289 (GRCm39)	missense	probably damaging	1.00
R5058:Cacna1d	UTSW	14	29,836,201 (GRCm39)	nonsense	probably null
R5063:Cacna1d	UTSW	14	29,773,340 (GRCm39)	missense	probably benign
R5138:Cacna1d	UTSW	14	30,212,929 (GRCm39)	missense	probably benign
R5151:Cacna1d	UTSW	14	29,845,280 (GRCm39)	missense	probably damaging	1.00
R5278:Cacna1d	UTSW	14	30,074,881 (GRCm39)	critical splice donor site	probably null
R5286:Cacna1d	UTSW	14	30,072,682 (GRCm39)	missense	possibly damaging	0.69
R5313:Cacna1d	UTSW	14	30,068,798 (GRCm39)	missense	probably benign	0.38
R5383:Cacna1d	UTSW	14	29,767,236 (GRCm39)	missense	possibly damaging	0.51
R5387:Cacna1d	UTSW	14	29,822,708 (GRCm39)	missense	probably damaging	1.00
R5514:Cacna1d	UTSW	14	30,072,790 (GRCm39)	nonsense	probably null
R5524:Cacna1d	UTSW	14	29,764,086 (GRCm39)	missense	probably benign	0.01
R5663:Cacna1d	UTSW	14	29,845,297 (GRCm39)	missense	probably damaging	1.00
R5712:Cacna1d	UTSW	14	29,796,954 (GRCm39)	missense	probably damaging	1.00
R5796:Cacna1d	UTSW	14	29,788,073 (GRCm39)	missense	probably damaging	1.00
R5906:Cacna1d	UTSW	14	29,818,917 (GRCm39)	missense	probably damaging	1.00
R5923:Cacna1d	UTSW	14	29,833,105 (GRCm39)	missense	probably damaging	1.00
R5936:Cacna1d	UTSW	14	29,893,271 (GRCm39)	missense	possibly damaging	0.91
R5938:Cacna1d	UTSW	14	29,825,692 (GRCm39)	missense	probably damaging	1.00
R6041:Cacna1d	UTSW	14	29,764,314 (GRCm39)	missense	probably damaging	1.00
R6432:Cacna1d	UTSW	14	29,845,411 (GRCm39)	missense	probably damaging	1.00
R6486:Cacna1d	UTSW	14	29,836,190 (GRCm39)	missense	probably benign	0.01
R6600:Cacna1d	UTSW	14	29,836,192 (GRCm39)	missense	probably benign	0.15
R6661:Cacna1d	UTSW	14	29,811,832 (GRCm39)	missense	probably damaging	1.00
R6753:Cacna1d	UTSW	14	29,764,743 (GRCm39)	missense	probably damaging	1.00
R6804:Cacna1d	UTSW	14	29,773,622 (GRCm39)	missense	probably benign	0.00
R6851:Cacna1d	UTSW	14	29,764,739 (GRCm39)	missense	probably damaging	1.00
R6863:Cacna1d	UTSW	14	29,797,809 (GRCm39)	missense	probably damaging	1.00
R6916:Cacna1d	UTSW	14	29,817,321 (GRCm39)	missense	probably damaging	1.00
R6925:Cacna1d	UTSW	14	29,773,594 (GRCm39)	missense	probably benign
R7066:Cacna1d	UTSW	14	30,074,935 (GRCm39)	intron	probably benign
R7188:Cacna1d	UTSW	14	29,811,790 (GRCm39)	missense	probably benign
R7242:Cacna1d	UTSW	14	29,900,663 (GRCm39)	missense	probably benign	0.00
R7249:Cacna1d	UTSW	14	29,864,660 (GRCm39)	missense	probably damaging	1.00
R7250:Cacna1d	UTSW	14	29,797,108 (GRCm39)	missense	probably damaging	1.00
R7274:Cacna1d	UTSW	14	29,864,600 (GRCm39)	missense	probably damaging	1.00
R7336:Cacna1d	UTSW	14	29,767,239 (GRCm39)	missense	probably benign	0.18
R7343:Cacna1d	UTSW	14	29,845,014 (GRCm39)	missense	probably benign	0.02
R7411:Cacna1d	UTSW	14	30,074,947 (GRCm39)	start codon destroyed	probably null
R7461:Cacna1d	UTSW	14	29,788,120 (GRCm39)	missense	probably benign	0.05
R7534:Cacna1d	UTSW	14	29,801,319 (GRCm39)	missense	probably damaging	1.00
R7613:Cacna1d	UTSW	14	29,788,120 (GRCm39)	missense	probably benign	0.05
R7661:Cacna1d	UTSW	14	29,769,177 (GRCm39)	missense	probably benign	0.07
R7754:Cacna1d	UTSW	14	29,797,809 (GRCm39)	missense	probably damaging	1.00
R7759:Cacna1d	UTSW	14	29,821,145 (GRCm39)	missense	probably benign	0.01
R7784:Cacna1d	UTSW	14	29,845,396 (GRCm39)	missense	probably damaging	1.00
R7808:Cacna1d	UTSW	14	29,833,026 (GRCm39)	missense	probably damaging	1.00
R7965:Cacna1d	UTSW	14	29,769,270 (GRCm39)	nonsense	probably null
R8225:Cacna1d	UTSW	14	29,844,990 (GRCm39)	missense	probably benign	0.23
R8259:Cacna1d	UTSW	14	29,773,475 (GRCm39)	missense	probably benign
R8348:Cacna1d	UTSW	14	29,824,364 (GRCm39)	missense	probably damaging	1.00
R8448:Cacna1d	UTSW	14	29,824,364 (GRCm39)	missense	probably damaging	1.00
R8822:Cacna1d	UTSW	14	29,900,692 (GRCm39)	missense	probably benign	0.02
R8848:Cacna1d	UTSW	14	29,845,283 (GRCm39)	missense	possibly damaging	0.89
R9122:Cacna1d	UTSW	14	29,852,125 (GRCm39)	missense	probably benign	0.00
R9122:Cacna1d	UTSW	14	29,845,402 (GRCm39)	missense	probably damaging	1.00
R9169:Cacna1d	UTSW	14	29,796,873 (GRCm39)	missense	probably damaging	1.00
R9199:Cacna1d	UTSW	14	29,764,893 (GRCm39)	missense	probably benign	0.26
R9203:Cacna1d	UTSW	14	29,773,669 (GRCm39)	missense	probably benign	0.04
R9263:Cacna1d	UTSW	14	29,796,925 (GRCm39)	missense	probably damaging	1.00
R9346:Cacna1d	UTSW	14	29,818,880 (GRCm39)	missense	possibly damaging	0.86
R9444:Cacna1d	UTSW	14	29,829,741 (GRCm39)	critical splice donor site	probably null
R9487:Cacna1d	UTSW	14	29,845,419 (GRCm39)	missense	possibly damaging	0.90
R9542:Cacna1d	UTSW	14	29,845,316 (GRCm39)	missense	probably benign	0.00
R9651:Cacna1d	UTSW	14	29,764,881 (GRCm39)	missense	probably benign	0.00
R9785:Cacna1d	UTSW	14	29,824,300 (GRCm39)	critical splice donor site	probably null
Z1176:Cacna1d	UTSW	14	29,833,073 (GRCm39)	missense	probably benign	0.15
Z1176:Cacna1d	UTSW	14	29,901,145 (GRCm39)	missense	probably benign	0.01

Posted On

2013-11-18