Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03162:Clca3a2'

411439

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

Accession Numbers

Essential gene?

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

Stock #

IGL03162

Quality Score

Status

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 144806416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 80 (V80F)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029929
AA Change: V520F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: V520F

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: V80F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198543

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,919,732	D92V	probably damaging	Het
Acsl3	T	C	1: 78,699,170		probably null	Het
Adam5	T	C	8: 24,781,604	T596A	probably benign	Het
Adh6a	T	A	3: 138,329,119	Y336*	probably null	Het
Ak3	A	T	19: 29,022,836	V225D	possibly damaging	Het
Aldh1a7	T	A	19: 20,708,281	I302F	probably benign	Het
Amdhd1	T	C	10: 93,531,475		probably null	Het
Arhgef18	G	A	8: 3,441,301		probably null	Het
Caap1	A	T	4: 94,501,024		probably benign	Het
Cdhr4	G	A	9: 107,998,011	G70D	probably damaging	Het
Celsr3	T	C	9: 108,842,558	F2445S	probably damaging	Het
Cenpc1	A	G	5: 86,037,905	V249A	possibly damaging	Het
Col6a1	T	A	10: 76,718,051		probably benign	Het
Commd10	T	A	18: 47,087,050	L198Q	probably damaging	Het
Cyp2d40	A	G	15: 82,760,042	L294P	unknown	Het
E2f6	T	A	12: 16,818,908	D77E	probably benign	Het
Elf5	T	A	2: 103,430,406	H38Q	possibly damaging	Het
Fam160b2	G	T	14: 70,587,554	D447E	probably damaging	Het
Fam189a2	T	G	19: 23,988,460	H225P	probably damaging	Het
Fcrl6	A	G	1: 172,598,253	V227A	probably damaging	Het
Gabarapl2	T	A	8: 111,942,536	V42D	probably benign	Het
Gm3543	A	G	14: 41,980,065	I154T	possibly damaging	Het
Gpr150	T	A	13: 76,056,831		probably benign	Het
Gstp3	A	G	19: 4,059,255		probably benign	Het
Gzmm	C	T	10: 79,692,956	T64I	probably damaging	Het
Hs3st1	T	A	5: 39,614,449	K284*	probably null	Het
Ints7	A	G	1: 191,621,412		probably benign	Het
Itih2	A	T	2: 10,126,244	I94N	probably damaging	Het
Kif26b	A	G	1: 178,916,932	N1531S	probably benign	Het
Kif27	T	C	13: 58,311,207	S937G	probably benign	Het
Klhl2	A	G	8: 64,754,392	V311A	probably damaging	Het
Klrb1b	T	A	6: 128,818,929	Q109L	probably null	Het
Lrig2	A	G	3: 104,464,297	F697L	probably damaging	Het
Lrrc66	T	C	5: 73,607,382	R773G	probably benign	Het
Mettl11b	T	A	1: 163,703,214	I219L	probably damaging	Het
Mrgpra2b	C	T	7: 47,464,067	V306I	probably benign	Het
Nipbl	T	C	15: 8,338,979	H1127R	probably benign	Het
Nr3c2	A	T	8: 77,217,584	D816V	probably damaging	Het
Olfr1152	A	C	2: 87,868,140	M50L	probably benign	Het
Olfr518	T	C	7: 108,881,604	M1V	probably null	Het
Pdxdc1	A	G	16: 13,857,417	L350P	probably damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Pnpla7	T	C	2: 25,015,289		probably benign	Het
Ppan	T	G	9: 20,891,312	L283R	probably damaging	Het
Rbfox3	A	C	11: 118,496,431	S286A	probably benign	Het
Rbl2	A	G	8: 91,085,702	T273A	probably benign	Het
Recql4	G	T	15: 76,706,096		probably null	Het
Slc22a26	T	A	19: 7,802,101	M117L	probably benign	Het
Sult2a2	T	A	7: 13,734,897	I96K	probably damaging	Het
Tcf15	G	A	2: 152,148,706	R175H	probably benign	Het
Uggt1	A	T	1: 36,207,956	V320D	probably damaging	Het
Vmn2r102	A	G	17: 19,694,024	N617S	probably damaging	Het
Vpreb3	A	G	10: 75,949,299	Y77C	probably damaging	Het
Zbbx	A	T	3: 75,071,623		probably benign	Het
Zfand6	A	T	7: 84,633,977	S57R	probably benign	Het
Zmym2	A	G	14: 56,914,043	I462V	probably benign	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
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
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

Posted On

2016-08-02