Mutagenetix > Incidental Mutation

Incidental Mutation 'R4934:Clca3a2'

380783

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

042534-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R4934 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144817931 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 98 (Y98H)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000159989]

AlphaFold

Q9EQR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029929
AA Change: Y98H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: Y98H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	478	1.5e-21	SMART
FN3	758	857	5.49e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159643

Predicted Effect

probably benign
Transcript: ENSMUST00000159989

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	481	6.22e-19	SMART
FN3	762	861	4.93e0	SMART
low complexity region	880	1025	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198543

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.4%

Validation Efficiency

99% (134/135)

Allele List at MGI

Other mutations in this stock

Total: 125 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428L18Rik	A	T	1: 31,222,499		probably benign	Het
Acy1	T	A	9: 106,435,122	I14F	probably null	Het
Ago1	T	C	4: 126,448,859	D193G	possibly damaging	Het
Arhgap45	A	T	10: 80,020,957	H201L	probably damaging	Het
Armc9	G	A	1: 86,213,079	D63N	probably damaging	Het
Asb17	A	T	3: 153,850,699	I148F	possibly damaging	Het
Atf7ip2	A	G	16: 10,241,583	E329G	possibly damaging	Het
Atp2a1	T	A	7: 126,453,428	D373V	probably benign	Het
BC067074	C	A	13: 113,368,348	Q2004K	probably damaging	Het
Cacna1e	G	T	1: 154,481,634	Y603*	probably null	Het
Cbln4	G	A	2: 172,038,981	T131I	probably damaging	Het
Ccdc126	A	G	6: 49,334,247	E63G	probably damaging	Het
Ccl4	T	A	11: 83,662,678	S6T	unknown	Het
Ccnb1	A	T	13: 100,781,701	I146K	possibly damaging	Het
Ccr8	T	A	9: 120,094,749	M310K	probably benign	Het
Cd180	A	T	13: 102,739,164		probably null	Het
Cd46	G	C	1: 195,082,799		probably benign	Het
Cebpb	A	G	2: 167,689,085	M22V	probably benign	Het
Cep152	A	G	2: 125,611,096	I352T	possibly damaging	Het
Cep295	T	G	9: 15,333,160	E1333D	probably damaging	Het
Ces4a	A	G	8: 105,137,981	H30R	probably benign	Het
Chrm3	A	G	13: 9,877,414	Y529H	probably damaging	Het
Chrnb4	T	C	9: 55,034,817	Y391C	probably benign	Het
Clvs1	C	T	4: 9,424,216	H221Y	possibly damaging	Het
Col3a1	G	A	1: 45,339,952		probably benign	Het
Cpn2	T	G	16: 30,260,526	N119T	probably damaging	Het
Cubn	T	A	2: 13,489,910	Q109H	probably benign	Het
Cyp26b1	A	G	6: 84,576,972	V221A	possibly damaging	Het
Cyp2e1	T	G	7: 140,770,117	N238K	probably damaging	Het
Dst	C	T	1: 34,208,588	A1693V	probably damaging	Het
Dync2li1	A	G	17: 84,649,255	Q281R	probably benign	Het
Enpp2	C	T	15: 54,882,147	G318S	probably damaging	Het
F13a1	G	T	13: 36,877,762	P676T	probably benign	Het
Fam189a2	T	C	19: 23,973,425	*597W	probably null	Het
Fam227a	T	C	15: 79,637,061	H267R	possibly damaging	Het
Fam78a	G	A	2: 32,069,415	R228C	probably damaging	Het
Fbxw25	T	C	9: 109,651,637	N325S	possibly damaging	Het
Foxred1	T	C	9: 35,209,914		probably benign	Het
Fstl5	T	A	3: 76,588,965	V345E	probably damaging	Het
Fzd8	GAAAAACTCA	GA	18: 9,214,492		probably null	Het
Gm15448	A	G	7: 3,822,677	Y398H	probably damaging	Het
Hand1	T	C	11: 57,831,252	R179G	possibly damaging	Het
Hk1	G	T	10: 62,358,386		probably benign	Het
Hmcn1	A	C	1: 150,722,535	L1672R	probably damaging	Het
Hps5	G	A	7: 46,769,351	Q297*	probably null	Het
Iars	T	A	13: 49,717,984	F699I	probably benign	Het
Ift140	G	A	17: 25,048,488	G620E	probably benign	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Inpp4a	T	G	1: 37,387,841	Y628D	possibly damaging	Het
Itk	C	T	11: 46,389,325	R29H	probably damaging	Het
Kcnv1	A	G	15: 45,109,248	F413S	probably damaging	Het
Klhl3	A	T	13: 58,102,417	Y4*	probably null	Het
Lonrf1	C	A	8: 36,233,949	C369F	probably damaging	Het
Magohb	A	T	6: 131,284,595		probably benign	Het
Map3k4	G	A	17: 12,271,900	R215C	probably damaging	Het
Map3k8	A	T	18: 4,339,548	S274R	possibly damaging	Het
Masp1	T	G	16: 23,465,076	M470L	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Muc4	A	T	16: 32,756,098		probably benign	Het
Myo1c	T	A	11: 75,671,850	V981E	probably damaging	Het
Nedd9	A	T	13: 41,338,935	I27K	probably damaging	Het
Nkd2	C	A	13: 73,822,722	G247V	probably damaging	Het
Nucb2	A	C	7: 116,539,964	Q398P	possibly damaging	Het
Numa1	T	A	7: 102,010,857	D376E	probably benign	Het
Olfr1188	C	T	2: 88,559,586	T39I	probably benign	Het
Olfr1198	A	T	2: 88,746,054	L278*	probably null	Het
Olfr1475	G	A	19: 13,479,592	T202I	possibly damaging	Het
Olfr263	G	A	13: 21,133,071	V99I	probably benign	Het
Olfr722	T	C	14: 49,895,749	T18A	probably benign	Het
Olfr735	C	T	14: 50,345,888	V185M	probably damaging	Het
Olfr813	A	T	10: 129,857,027	N170Y	possibly damaging	Het
Olfr930	A	T	9: 38,930,833	I221F	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pamr1	C	T	2: 102,642,204	T616I	probably benign	Het
Pcnx	G	A	12: 81,991,825	V1955I	possibly damaging	Het
Plekha3	T	A	2: 76,680,227	D35E	possibly damaging	Het
Pnpla2	T	G	7: 141,458,172	N184K	probably damaging	Het
Polr3a	C	T	14: 24,452,624	E1216K	probably benign	Het
Ppp1r21	A	T	17: 88,545,375	S61C	probably damaging	Het
Ppp1r21	G	C	17: 88,545,376	S61T	probably damaging	Het
Prdm13	G	T	4: 21,678,223		probably benign	Het
Prss53	T	C	7: 127,888,707	N201S	probably benign	Het
Rab11fip2	A	G	19: 59,935,858	L338S	probably damaging	Het
Rad50	T	C	11: 53,684,275	N546S	probably benign	Het
Ralgapa1	T	C	12: 55,762,574	D472G	possibly damaging	Het
Rexo4	A	G	2: 26,960,334	I277T	probably damaging	Het
Rimbp2	C	T	5: 128,788,515	V590I	probably benign	Het
Ripor3	A	G	2: 167,982,816	V864A	probably benign	Het
Rnpc3	G	A	3: 113,624,979	H107Y	possibly damaging	Het
Ryr1	A	T	7: 29,068,095	D2927E	probably damaging	Het
Samd9l	G	A	6: 3,375,621	Q547*	probably null	Het
Scaper	T	C	9: 55,809,175	E724G	probably damaging	Het
Secisbp2l	C	T	2: 125,740,489	V1016I	probably damaging	Het
Selenoo	T	A	15: 89,098,767	M499K	probably damaging	Het
Sema4a	T	A	3: 88,438,261	D505V	probably damaging	Het
Sema5a	T	C	15: 32,679,164	M863T	probably damaging	Het
Slc24a5	T	C	2: 125,088,020	C414R	probably damaging	Het
Slc34a2	A	G	5: 53,067,600	D361G	probably damaging	Het
Slc5a1	T	C	5: 33,104,514	Y20H	probably benign	Het
Slx4ip	A	T	2: 137,068,347		probably benign	Het
Snx14	T	A	9: 88,398,288	E538V	probably damaging	Het
Sspo	C	A	6: 48,465,552	L1994I	probably damaging	Het
St13	G	C	15: 81,399,585	R4G	probably benign	Het
Stap2	A	G	17: 55,997,901	S294P	possibly damaging	Het
Stat1	C	A	1: 52,153,923	Y651*	probably null	Het
Syne2	A	G	12: 75,899,272	T373A	probably benign	Het
Tacc2	A	G	7: 130,728,588	S201G	probably damaging	Het
Tdpoz3	G	A	3: 93,826,980	E321K	probably benign	Het
Thumpd1	T	C	7: 119,716,779	T316A	probably benign	Het
Tlr3	A	T	8: 45,397,035	C866S	probably benign	Het
Tmprss11g	T	A	5: 86,496,542	I148F	probably benign	Het
Topbp1	T	A	9: 103,328,369		probably benign	Het
Tpm1	T	C	9: 67,028,049		probably null	Het
Traf3ip2	T	A	10: 39,626,100	S81R	probably damaging	Het
Trim29	T	A	9: 43,310,968	N31K	probably benign	Het
Ubn2	C	T	6: 38,490,498	P563S	probably benign	Het
Usp24	T	C	4: 106,426,546	Y2418H	probably benign	Het
Vmn2r6	T	A	3: 64,556,345	D267V	probably damaging	Het
Wapl	T	A	14: 34,692,095	C305S	probably benign	Het
Yme1l1	C	A	2: 23,168,321	S155*	probably null	Het
Ythdf3	T	A	3: 16,204,056	H126Q	probably damaging	Het
Zbtb32	A	T	7: 30,591,253	C206S	possibly damaging	Het
Zfp518a	A	T	19: 40,914,263	I879F	probably benign	Het
Zfp651	T	C	9: 121,763,979	V455A	probably damaging	Het
Zfp938	A	T	10: 82,226,178	Y203N	possibly damaging	Het

Other mutations in Clca3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Clca3a2	APN	3	144813627	nonsense	probably null
IGL01663:Clca3a2	APN	3	144817155	missense	probably damaging	0.97
IGL01779:Clca3a2	APN	3	144819378	missense	possibly damaging	0.47
IGL02066:Clca3a2	APN	3	144813455	missense	probably benign
IGL02301:Clca3a2	APN	3	144806372	missense	probably damaging	0.98
IGL02619:Clca3a2	APN	3	144806322	missense	probably damaging	1.00
IGL02852:Clca3a2	APN	3	144806343	missense	probably damaging	0.98
IGL02901:Clca3a2	APN	3	144816768	missense	probably damaging	1.00
IGL03162:Clca3a2	APN	3	144806416	missense	probably damaging	1.00
R0032:Clca3a2	UTSW	3	144816733	missense	probably benign	0.01
R0244:Clca3a2	UTSW	3	144813898	missense	possibly damaging	0.90
R1249:Clca3a2	UTSW	3	144803004	missense	possibly damaging	0.80
R1370:Clca3a2	UTSW	3	144813863	splice site	probably benign
R1586:Clca3a2	UTSW	3	144810716	missense	possibly damaging	0.94
R1776:Clca3a2	UTSW	3	144813920	missense	probably damaging	1.00
R1797:Clca3a2	UTSW	3	144797637	missense	probably benign	0.01
R1869:Clca3a2	UTSW	3	144806403	missense	probably benign	0.44
R1871:Clca3a2	UTSW	3	144797637	missense	probably benign	0.01
R1919:Clca3a2	UTSW	3	144810696	missense	probably benign
R1923:Clca3a2	UTSW	3	144805730	missense	probably damaging	1.00
R2200:Clca3a2	UTSW	3	144813924	missense	probably benign	0.10
R2324:Clca3a2	UTSW	3	144806280	critical splice donor site	probably null
R2937:Clca3a2	UTSW	3	144813918	missense	probably benign	0.06
R3429:Clca3a2	UTSW	3	144806327	missense	probably benign	0.07
R3434:Clca3a2	UTSW	3	144808761	unclassified	probably benign
R3551:Clca3a2	UTSW	3	144803081	missense	probably damaging	1.00
R3952:Clca3a2	UTSW	3	144803061	missense	probably damaging	1.00
R4120:Clca3a2	UTSW	3	144810852	missense	probably benign	0.25
R4383:Clca3a2	UTSW	3	144806320	missense	probably benign	0.02
R4518:Clca3a2	UTSW	3	144808705	missense	probably damaging	1.00
R4598:Clca3a2	UTSW	3	144805683	missense	probably damaging	1.00
R4801:Clca3a2	UTSW	3	144807351	missense	possibly damaging	0.95
R4802:Clca3a2	UTSW	3	144807351	missense	possibly damaging	0.95
R4816:Clca3a2	UTSW	3	144810852	missense	probably benign	0.25
R4942:Clca3a2	UTSW	3	144806502	missense	probably damaging	1.00
R5123:Clca3a2	UTSW	3	144806343	missense	probably damaging	1.00
R5156:Clca3a2	UTSW	3	144805838	missense	probably benign	0.26
R5275:Clca3a2	UTSW	3	144813579	missense	probably damaging	1.00
R5372:Clca3a2	UTSW	3	144797525	missense	probably benign	0.00
R5656:Clca3a2	UTSW	3	144797632	missense	probably benign	0.26
R6059:Clca3a2	UTSW	3	144810770	missense	probably damaging	1.00
R6155:Clca3a2	UTSW	3	144819357	missense	probably damaging	0.99
R6254:Clca3a2	UTSW	3	144802134	missense	probably benign
R6336:Clca3a2	UTSW	3	144806478	missense	probably benign
R6470:Clca3a2	UTSW	3	144804263	splice site	probably null
R6593:Clca3a2	UTSW	3	144808577	critical splice donor site	probably null
R6631:Clca3a2	UTSW	3	144813644	missense	probably benign
R6826:Clca3a2	UTSW	3	144818054	missense	possibly damaging	0.46
R6836:Clca3a2	UTSW	3	144806383	missense	probably damaging	0.97
R6896:Clca3a2	UTSW	3	144808701	missense	probably damaging	1.00
R7211:Clca3a2	UTSW	3	144814014	missense	probably benign	0.00
R7324:Clca3a2	UTSW	3	144808611	missense	probably damaging	0.99
R7411:Clca3a2	UTSW	3	144802099	missense	probably damaging	1.00
R7486:Clca3a2	UTSW	3	144797601	missense	probably damaging	1.00
R7491:Clca3a2	UTSW	3	144813579	missense	probably damaging	1.00
R7521:Clca3a2	UTSW	3	144801913	makesense	probably null
R7889:Clca3a2	UTSW	3	144810813	nonsense	probably null
R7946:Clca3a2	UTSW	3	144807314	critical splice donor site	probably null
R7991:Clca3a2	UTSW	3	144813995	missense	probably benign	0.00
R8022:Clca3a2	UTSW	3	144805766	missense	probably damaging	1.00
R8344:Clca3a2	UTSW	3	144805942	critical splice acceptor site	probably null
R8367:Clca3a2	UTSW	3	144817747	splice site	probably null
R8371:Clca3a2	UTSW	3	144807353	nonsense	probably null
R8814:Clca3a2	UTSW	3	144797764	missense	probably benign	0.18
R9031:Clca3a2	UTSW	3	144805714	missense	probably damaging	1.00
R9069:Clca3a2	UTSW	3	144813686	splice site	probably benign
R9201:Clca3a2	UTSW	3	144813923	missense	probably benign	0.00
R9261:Clca3a2	UTSW	3	144819397	missense	probably benign
R9469:Clca3a2	UTSW	3	144802177	missense	probably damaging	1.00
R9515:Clca3a2	UTSW	3	144803047	nonsense	probably null
R9569:Clca3a2	UTSW	3	144807314	critical splice donor site	probably null
R9664:Clca3a2	UTSW	3	144797814	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAGGACTGTCTCACTTAAGTG -3'
(R):5'- TCGAGATTGCTACCACAATGC -3'

Sequencing Primer
(F):5'- TGTTTGTAACCCCACTGGAGAAG -3'
(R):5'- GAGATTGCTACCACAATGCACTTTTC -3'

Posted On

2016-04-15