Mutagenetix > Incidental Mutation

Incidental Mutation 'R4942:Clca3a2'

383168

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R4942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144806502 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 491 (E491V)

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: E491V

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

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: E491V

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

unknown
Transcript: ENSMUST00000197013
AA Change: E51V

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

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	T	C	17: 28,903,258	R420G	probably benign	Het
5730522E02Rik	A	G	11: 25,770,472		probably null	Het
Adamts7	T	C	9: 90,163,311	S23P	probably benign	Het
Adamtsl1	T	A	4: 86,341,214	C824*	probably null	Het
Adgre1	A	G	17: 57,406,903	Y196C	probably damaging	Het
Arap1	A	G	7: 101,401,802	D542G	possibly damaging	Het
B3gat1	A	G	9: 26,755,598	D42G	probably benign	Het
Birc6	G	A	17: 74,623,050	A2412T	probably damaging	Het
Bsn	A	G	9: 108,106,479	Y3459H	unknown	Het
Cacnb1	T	C	11: 98,002,983	Y571C	probably damaging	Het
Cdk2ap2	G	A	19: 4,097,508		probably null	Het
Cep57	A	G	9: 13,813,427	S265P	probably damaging	Het
Clca1	A	G	3: 145,004,763	I893T	probably benign	Het
Cldn10	G	A	14: 118,788,313	G53S	possibly damaging	Het
Cobl	A	T	11: 12,254,185	I832N	probably damaging	Het
Col9a2	T	C	4: 121,053,119	V487A	possibly damaging	Het
Cse1l	C	T	2: 166,929,794	T325I	probably damaging	Het
Dlx6	A	G	6: 6,863,468	Q30R	probably benign	Het
Dnah8	T	C	17: 30,729,142	V1902A	probably benign	Het
Dusp8	A	G	7: 142,082,228	F542L	possibly damaging	Het
Emid1	T	G	11: 5,129,430	M323L	probably benign	Het
Ercc5	A	G	1: 44,175,965	D886G	probably benign	Het
Fam184b	T	C	5: 45,573,307	E461G	probably damaging	Het
Fbn1	C	A	2: 125,383,616	C572F	possibly damaging	Het
Gigyf1	G	T	5: 137,525,690	V1041L	possibly damaging	Het
Grin3b	A	G	10: 79,975,722	H714R	probably damaging	Het
Heatr1	A	G	13: 12,413,510		probably null	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Llgl1	C	T	11: 60,709,568	P581L	probably benign	Het
Lypd6b	C	A	2: 49,946,120	H104Q	probably benign	Het
Man1a	A	T	10: 53,933,490		probably null	Het
Megf6	A	T	4: 154,253,820	D449V	probably damaging	Het
Mtor	T	C	4: 148,472,142	V1003A	probably benign	Het
Ncan	C	A	8: 70,100,294	W1096L	probably damaging	Het
Ndor1	C	T	2: 25,248,121		probably null	Het
Ndufaf1	T	C	2: 119,660,066	E171G	possibly damaging	Het
Nell1	T	C	7: 50,120,649	V152A	possibly damaging	Het
Nt5dc1	A	T	10: 34,322,677	V255E	probably damaging	Het
Olfr10	A	T	11: 49,317,548	M1L	probably null	Het
Olfr434	T	A	6: 43,216,994	F27Y	probably damaging	Het
Olfr619	G	A	7: 103,604,194	R180H	probably benign	Het
Olfr652	A	G	7: 104,565,005	I261M	probably benign	Het
Otud7a	T	C	7: 63,757,423	I50T	probably damaging	Het
P2ry13	G	A	3: 59,209,562	T265I	probably benign	Het
Pde4d	A	G	13: 108,860,199	S12G	probably benign	Het
Pdzd3	C	A	9: 44,248,618	G402*	probably null	Het
Pigk	C	A	3: 152,744,517	N219K	probably damaging	Het
Plcg1	T	A	2: 160,753,589		probably null	Het
Psd2	A	T	18: 35,978,664	D114V	probably damaging	Het
Ptch1	A	T	13: 63,525,070	I770N	probably benign	Het
Ptprq	A	T	10: 107,688,429	M481K	probably benign	Het
Rnf216	A	C	5: 143,093,059	M45R	probably damaging	Het
Rpsa	T	A	9: 120,131,063	W231R	probably benign	Het
Ryr1	G	T	7: 29,069,573	T2797N	probably damaging	Het
Ryr3	A	T	2: 112,836,257	M1468K	probably damaging	Het
Slc6a7	A	G	18: 61,004,517	Y244H	probably damaging	Het
Slco6c1	T	A	1: 97,081,324	D462V	probably damaging	Het
Spata31d1b	A	T	13: 59,717,103	E688D	possibly damaging	Het
Srpr	G	A	9: 35,215,470	R508H	probably benign	Het
Tnrc18	A	T	5: 142,787,982	I181N	unknown	Het
Tnrc6a	T	C	7: 123,192,613	F1785L	probably damaging	Het
Trio	A	T	15: 27,752,725	D2174E	probably benign	Het
Ttn	C	T	2: 76,793,256	V15326I	probably damaging	Het
Ubap2	T	A	4: 41,245,461		probably benign	Het
Vmn2r113	C	T	17: 22,958,347	P702S	probably damaging	Het
Vmn2r66	A	T	7: 85,007,772	W142R	probably damaging	Het
Vmn2r73	A	G	7: 85,870,374	Y459H	probably damaging	Het
Wsb2	C	T	5: 117,377,485	T385M	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- CGAGCAGACCGGATGTTTAG -3'
(R):5'- TCAGTACATGCACAGGAGGG -3'

Sequencing Primer
(F):5'- GCAGACCGGATGTTTAGTTCATCATC -3'
(R):5'- TACATGCACAGGAGGGGAGAG -3'

Posted On

2016-04-27