Mutagenetix > Incidental Mutation

Incidental Mutation 'R7324:Clca3a2'

568733

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

045418-MU

Accession Numbers

Essential gene?

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

Stock #

R7324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144808611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 445 (A445V)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000199029]

AlphaFold

Q9EQR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029929
AA Change: A445V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: A445V

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

probably damaging
Transcript: ENSMUST00000197013
AA Change: A5V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199029

SMART Domains

Protein: ENSMUSP00000143543
Gene: ENSMUSG00000028262

Domain	Start	End	E-Value	Type
Pfam:CLCA	1	188	6.5e-77	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	C	17: 84,676,239	D124G	possibly damaging	Het
Ackr3	C	G	1: 90,214,201	N127K	probably damaging	Het
AL732309.1	A	C	2: 25,246,139	M21R	possibly damaging	Het
Ankrd52	C	A	10: 128,386,163	T552K	possibly damaging	Het
Arhgap28	T	C	17: 67,895,884		probably null	Het
Arid5b	A	T	10: 68,128,922	N306K	probably benign	Het
C1qtnf3	A	C	15: 10,952,621	K56N	probably benign	Het
C2	C	T	17: 34,881,688	G52D	probably benign	Het
Casz1	C	T	4: 148,947,033	T1247M	probably damaging	Het
Cc2d2b	A	G	19: 40,809,108	D778G	unknown	Het
Cdh5	A	G	8: 104,142,793	D717G	probably damaging	Het
Clca3b	T	A	3: 144,841,420	M319L	possibly damaging	Het
Csmd1	G	A	8: 16,058,707	S1894L	probably damaging	Het
Csnk1g3	A	G	18: 53,919,018	T220A	probably damaging	Het
Cyp2d10	T	G	15: 82,403,760	T381P	probably damaging	Het
Ddb2	G	A	2: 91,236,884		probably benign	Het
Ddx24	C	A	12: 103,416,259	L688F	probably damaging	Het
Dennd4c	T	C	4: 86,829,738	L1615P	unknown	Het
Dnah8	T	A	17: 30,784,125	D3599E	probably benign	Het
Dst	T	C	1: 34,006,224	S13P	possibly damaging	Het
Efcab12	T	C	6: 115,823,594	D156G	probably benign	Het
Enpp2	A	G	15: 54,877,774		probably null	Het
Ephx2	A	G	14: 66,085,354	V490A	probably damaging	Het
Etnppl	A	G	3: 130,629,575	N308D	probably damaging	Het
F5	TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	1: 164,193,581		probably benign	Het
Fam162b	A	T	10: 51,590,186		probably null	Het
Fancl	A	G	11: 26,403,362	E86G	probably damaging	Het
Flii	G	A	11: 60,719,040	T615I	probably benign	Het
Fndc7	G	T	3: 108,872,221	Q336K	probably benign	Het
Gm14025	T	C	2: 129,037,852	D718G	unknown	Het
Gm26661	T	C	14: 7,791,911	C109R	unknown	Het
H2-DMb1	T	C	17: 34,159,462		probably null	Het
H2-T10	C	T	17: 36,119,297	G251R	probably damaging	Het
Harbi1	T	C	2: 91,720,699	I339T	probably benign	Het
Hsp90aa1	A	G	12: 110,695,225	M119T	unknown	Het
Ighe	T	A	12: 113,272,334	Y124F		Het
Ighv7-1	T	C	12: 113,896,529	Y81C	probably damaging	Het
Ilkap	A	T	1: 91,385,393		probably null	Het
Inpp5a	A	G	7: 139,525,670	D179G	probably damaging	Het
Itgad	A	T	7: 128,189,807	D510V	probably damaging	Het
Kcnn2	A	T	18: 45,560,071	H238L	probably benign	Het
Kctd17	T	A	15: 78,435,642	C189S	probably damaging	Het
Larp4b	C	A	13: 9,158,580	A423E	probably benign	Het
Llgl2	A	G	11: 115,850,730	E562G	possibly damaging	Het
Macf1	T	C	4: 123,374,425	T6734A	probably benign	Het
Maz	G	A	7: 127,024,593	T377M	probably damaging	Het
Mmrn1	G	T	6: 60,944,933	G125*	probably null	Het
Mvp	A	G	7: 126,993,609	S377P	probably benign	Het
Nin	C	T	12: 70,043,734	R969Q		Het
Nktr	C	T	9: 121,727,361	T35I	probably damaging	Het
Nktr	T	A	9: 121,748,291	M475K	possibly damaging	Het
Nod2	T	A	8: 88,653,066	V65D	probably damaging	Het
Olfr1249	A	T	2: 89,630,103	I265N	possibly damaging	Het
Olfr135	T	C	17: 38,208,716	V157A	probably benign	Het
Olfr1487	A	G	19: 13,619,578	I96V	probably benign	Het
Olfr1493-ps1	C	T	19: 13,726,906	A215V	probably benign	Het
Olfr203	T	C	16: 59,303,248	F32L	probably benign	Het
Olfr398	A	G	11: 73,983,843	V255A	probably benign	Het
Olfr794	T	A	10: 129,570,849	S65T	probably damaging	Het
Olfr868	A	T	9: 20,101,430	I224F	possibly damaging	Het
Opa1	A	T	16: 29,586,981	E121D	probably benign	Het
Osbpl2	A	G	2: 180,150,201	T233A	probably benign	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Plekhh3	T	A	11: 101,170,774	D38V	possibly damaging	Het
Prtg	C	T	9: 72,890,840	A696V	probably damaging	Het
Ptpn14	T	G	1: 189,863,424	V748G	possibly damaging	Het
Reg2	A	T	6: 78,406,154	D28V	probably benign	Het
Rhpn1	A	T	15: 75,704,397	I2F	possibly damaging	Het
Rundc3a	A	G	11: 102,399,973	E294G	possibly damaging	Het
Scara3	T	A	14: 65,931,416	I251L	probably benign	Het
Slc23a2	G	A	2: 132,089,123	T152I	probably damaging	Het
Slc39a2	T	G	14: 51,894,193	S74A	possibly damaging	Het
Tmprss15	T	C	16: 78,962,019	Y937C	probably damaging	Het
Tpp2	T	C	1: 43,978,778	L779S	probably damaging	Het
Tssk2	T	C	16: 17,899,363	V210A	possibly damaging	Het
Ttn	T	A	2: 76,895,593	T6100S	unknown	Het
Tufm	G	A	7: 126,489,587	E317K	possibly damaging	Het
Wdfy4	A	G	14: 33,047,314	S2219P		Het
Wtap	T	C	17: 12,980,946	N50S	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
R4934:Clca3a2	UTSW	3	144817931	missense	probably damaging	1.00
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
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'- GAGCATCTGTTTAGTGCAATGAAG -3'
(R):5'- GCATGTAATTAGCACCCTGC -3'

Sequencing Primer
(F):5'- CAGCAGGCACCGAATAATTTAAG -3'
(R):5'- GCTTTTCACAGGCAATTACCTCCAG -3'

Posted On

2019-09-13