Mutagenetix > Incidental Mutation

Incidental Mutation 'R7991:Clca3a2'

651720

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

046032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7991 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144813995 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 206 (V206A)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably benign
Transcript: ENSMUST00000029929
AA Change: V206A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: V206A

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	C	6: 40,928,510		probably null	Het
Adamts19	A	G	18: 59,052,654	D1200G	probably damaging	Het
Adnp2	A	G	18: 80,129,322	L624P	probably damaging	Het
Akap9	A	G	5: 4,064,949		probably null	Het
Ap2a2	A	G	7: 141,609,847	Y249C	probably damaging	Het
Asxl2	A	T	12: 3,484,531	N243Y	probably damaging	Het
Btnl4	A	G	17: 34,474,283	S53P	probably damaging	Het
Caly	T	C	7: 140,071,600	D116G	possibly damaging	Het
Ccdc81	G	A	7: 89,890,401	A209V	probably benign	Het
Cdc14a	A	G	3: 116,308,238	S347P	probably benign	Het
Cdh9	G	T	15: 16,828,403	A194S	probably damaging	Het
Clca4a	A	T	3: 144,952,739	V905E	possibly damaging	Het
Cluap1	A	G	16: 3,928,621	E282G	probably damaging	Het
Cmtm2b	T	A	8: 104,329,787	C109*	probably null	Het
Crtac1	T	C	19: 42,333,960	N114D	probably benign	Het
Dennd1b	T	C	1: 139,085,896	Y168H		Het
Dock6	T	C	9: 21,846,562	D82G	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fh1	T	C	1: 175,609,771	Y254C	probably damaging	Het
Gm4881	G	A	7: 24,928,550	P185S	possibly damaging	Het
Gm6588	G	A	5: 112,450,925	R446H	probably benign	Het
Gm8251	T	A	1: 44,059,709	H743L	probably benign	Het
H2-Q1	T	A	17: 35,321,380	L147Q	probably damaging	Het
Hist1h3g	T	A	13: 23,535,717	M91K	probably benign	Het
Hnrnpu	A	T	1: 178,332,306	D403E	unknown	Het
Il34	T	C	8: 110,749,490	K33E	probably benign	Het
Klhl20	A	G	1: 161,106,864	V195A	possibly damaging	Het
Lair1	G	T	7: 4,028,970	T46N	probably damaging	Het
Lama4	A	G	10: 39,045,809	E442G	possibly damaging	Het
Lifr	A	T	15: 7,173,482	I400F	possibly damaging	Het
Man2a1	T	C	17: 64,601,776	I14T	probably benign	Het
Olfr1427	A	C	19: 12,098,826	V271G	possibly damaging	Het
Olfr1436	T	A	19: 12,298,275	I286F	probably damaging	Het
Olfr282	T	C	15: 98,437,538	I23T	probably benign	Het
Olfr51	T	G	11: 51,007,244	S91A	possibly damaging	Het
Olfr573-ps1	A	G	7: 102,942,553	L8P	probably benign	Het
Olfr62	T	A	4: 118,666,292	C258*	probably null	Het
Papss2	G	T	19: 32,652,003	V331F	possibly damaging	Het
Pcdha11	T	C	18: 37,012,856	S667P	probably damaging	Het
Pcolce	A	T	5: 137,609,128	S75T	probably benign	Het
Phf20l1	A	C	15: 66,630,919	D716A	possibly damaging	Het
Pkd1	A	G	17: 24,572,621	E1094G	possibly damaging	Het
Ppm1h	A	G	10: 122,782,247	K104E	probably benign	Het
Ppp6r3	T	C	19: 3,459,750	Y195C	probably benign	Het
Pramel6	T	A	2: 87,509,687	L265Q	probably benign	Het
Prc1	A	T	7: 80,312,221	N489I	possibly damaging	Het
Psg22	A	C	7: 18,726,936	N497H	probably damaging	Het
Pum3	T	A	19: 27,412,220	I411F	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rev3l	A	T	10: 39,863,738	I2861L	possibly damaging	Het
Rsf1	A	C	7: 97,661,333	K423N		Het
Samd4b	A	G	7: 28,404,033	I553T	probably benign	Het
Sept3	A	G	15: 82,286,453	E216G	probably benign	Het
Sppl2c	A	G	11: 104,187,363	T330A	probably benign	Het
Sppl2c	T	C	11: 104,187,814	V480A	possibly damaging	Het
Srebf2	A	G	15: 82,204,052	D1073G	probably damaging	Het
Sv2c	C	T	13: 96,088,289	V171M	probably damaging	Het
Tbc1d4	T	A	14: 101,608,279	E61V	probably damaging	Het
Tnc	T	A	4: 64,008,746	T848S	probably benign	Het
Trmt5	A	G	12: 73,282,665	Y240H	probably damaging	Het
Trpv1	T	C	11: 73,241,757	V399A	possibly damaging	Het
Tstd2	T	C	4: 46,133,646	T59A	unknown	Het
Ubash3a	T	A	17: 31,237,895	L510M	probably benign	Het
Ubr3	T	A	2: 69,952,856	I713N	probably damaging	Het
Upf3a	A	G	8: 13,792,166	E194G	probably damaging	Het
Usp22	A	T	11: 61,174,762	Y42N	probably benign	Het
Vav3	T	A	3: 109,563,162	C555S	probably damaging	Het
Vmn1r210	T	A	13: 22,827,514	M201L	probably benign	Het
Wdr64	C	A	1: 175,726,485	Q194K	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
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
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'- GTCCATTTTACACGCTTGGAG -3'
(R):5'- CCAATAGCAGTTGCCACAGAG -3'

Sequencing Primer
(F):5'- ACACGCTTGGAGGGTCATTGAG -3'
(R):5'- CAGTTGCCACAGAGAGATTTTAG -3'

Posted On

2020-09-15