Mutagenetix > Incidental Mutation

Incidental Mutation 'R1797:Clca3a2'

202351

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

039827-MU

Accession Numbers

Essential gene?

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

Stock #

R1797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144797637 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 851 (Y851H)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably benign
Transcript: ENSMUST00000029929
AA Change: Y851H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: Y851H

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 benign
Transcript: ENSMUST00000197013

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,198,459	K200E	possibly damaging	Het
5830473C10Rik	A	T	5: 90,579,601	E359D	probably damaging	Het
Abcc2	A	G	19: 43,814,786	E687G	possibly damaging	Het
Abcc2	A	T	19: 43,833,987	Q1421H	probably damaging	Het
Abcg3	C	T	5: 104,939,164	S534N	possibly damaging	Het
Acp1	A	G	12: 30,896,114		probably null	Het
Adam12	C	A	7: 133,967,861	R295L	probably benign	Het
Alg1	C	A	16: 5,239,143	H213Q	probably benign	Het
Ap4b1	T	A	3: 103,818,833	W410R	possibly damaging	Het
As3mt	A	G	19: 46,724,934	T307A	possibly damaging	Het
Cdc14a	T	C	3: 116,322,194	I289V	probably damaging	Het
Cdk17	A	G	10: 93,208,252	I18V	possibly damaging	Het
Cep131	C	T	11: 120,073,736		probably null	Het
Cnih2	T	C	19: 5,094,286	K66E	probably benign	Het
Cpsf3	T	A	12: 21,306,850	N491K	probably benign	Het
Cux1	C	T	5: 136,275,315	E1253K	probably benign	Het
Dcc	A	C	18: 71,367,161	L1005R	probably damaging	Het
Ddx19b	A	T	8: 111,012,807	M200K	probably damaging	Het
Ech1	A	G	7: 28,831,863	Y292C	probably damaging	Het
Edc4	G	T	8: 105,891,085	A1121S	probably benign	Het
Eml6	T	A	11: 29,882,041	I210F	probably benign	Het
Fam135b	T	C	15: 71,452,441	T1226A	probably benign	Het
Flg2	C	T	3: 93,200,976	R104C	probably damaging	Het
Frzb	T	C	2: 80,446,528	I105V	possibly damaging	Het
Gli3	A	G	13: 15,713,512	D504G	probably damaging	Het
Gm42669	A	T	5: 107,507,817	K1161*	probably null	Het
Gm6665	T	C	18: 31,820,133	E63G	possibly damaging	Het
Gm9923	T	C	10: 72,309,763	V148A	probably benign	Het
Hoxc5	T	C	15: 103,014,434	I118T	probably benign	Het
Hsp90b1	A	G	10: 86,701,745	V232A	possibly damaging	Het
Impdh1	T	A	6: 29,207,169	I59F	probably damaging	Het
Iqch	G	A	9: 63,588,377	P111S	possibly damaging	Het
Itih1	G	T	14: 30,929,899	Q829K	probably damaging	Het
Kcnh2	C	T	5: 24,322,672	R894H	probably damaging	Het
Kmt5b	G	T	19: 3,814,833	E632D	probably benign	Het
L2hgdh	C	T	12: 69,699,566	M373I	probably benign	Het
Map3k4	C	T	17: 12,264,019	E604K	probably benign	Het
Mok	T	A	12: 110,808,045	Y420F	probably benign	Het
Nedd1	G	A	10: 92,698,739	T303I	possibly damaging	Het
Nipal4	T	A	11: 46,151,333	M174L	probably benign	Het
Olfr806	A	C	10: 129,738,709	I69M	probably benign	Het
Pag1	T	A	3: 9,693,886	T391S	probably benign	Het
Palm3	A	G	8: 84,028,803	R315G	probably benign	Het
Patj	C	T	4: 98,687,438	R1177W	probably damaging	Het
Pbld2	G	A	10: 63,075,124		probably null	Het
Phldb1	A	T	9: 44,716,545	M81K	probably damaging	Het
Pkn2	A	G	3: 142,809,528	F682L	probably damaging	Het
Plce1	T	C	19: 38,758,948		probably null	Het
Plekha8	T	A	6: 54,640,974	V518E	probably damaging	Het
Ppp1r3a	T	A	6: 14,717,982	M978L	probably benign	Het
Ppp4r4	T	A	12: 103,598,151	C592S	possibly damaging	Het
Prdx6b	T	A	2: 80,293,202	D118E	possibly damaging	Het
Ptprg	T	C	14: 12,199,743	V52A	probably damaging	Het
Rab27b	A	G	18: 69,989,546	M114T	probably damaging	Het
Ralgps1	A	G	2: 33,340,711		probably null	Het
Rasa3	G	A	8: 13,582,372	P506L	probably benign	Het
Rps6kb1	G	A	11: 86,502,808	R499*	probably null	Het
S1pr4	A	G	10: 81,499,190	M150T	probably damaging	Het
Scube2	T	C	7: 109,831,675	D439G	probably damaging	Het
Serpina1e	T	C	12: 103,950,891	K173R	probably benign	Het
Serpina3m	T	A	12: 104,389,515	I147N	probably damaging	Het
Sh3rf3	G	T	10: 59,086,667	G522*	probably null	Het
Smad1	A	T	8: 79,343,844	V355E	probably damaging	Het
Srsf11	A	G	3: 158,019,428	V211A	possibly damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stt3a	C	T	9: 36,743,415		probably null	Het
Syne2	T	C	12: 75,963,783	V2488A	probably benign	Het
Tbc1d23	T	C	16: 57,173,100	T568A	possibly damaging	Het
Tnn	A	C	1: 160,140,688	V378G	probably damaging	Het
Trim50	T	C	5: 135,353,501	V69A	possibly damaging	Het
Ttll10	A	T	4: 156,047,567	D19E	probably damaging	Het
Ushbp1	G	A	8: 71,388,923	R421C	probably damaging	Het
Vmn2r2	T	C	3: 64,134,707	T196A	probably benign	Het
Wdr64	G	A	1: 175,812,019	S1028N	probably damaging	Het
Wwtr1	T	C	3: 57,462,575	Y373C	probably damaging	Het
Zeb1	A	T	18: 5,766,298	K216*	probably null	Het
Zfp39	T	C	11: 58,900,660	D67G	probably damaging	Het
Zfp40	A	G	17: 23,175,540	I691T	possibly damaging	Het
Zfp532	T	C	18: 65,625,144	V716A	probably benign	Het
Zfp616	T	A	11: 74,085,279	C791*	probably null	Het
Zfp932	G	A	5: 109,996,623		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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTCATTCTAAAGCAACAGTCAGC -3'
(R):5'- ATACATCATCAGAGTGAGCCAGC -3'

Sequencing Primer
(F):5'- CAGTCAGCAAATATATACAGGGTTGC -3'
(R):5'- CATCCTCTGGGTCTCCAAGAAG -3'

Posted On

2014-06-23