Mutagenetix > Incidental Mutation

Incidental Mutation 'R6826:Clca3a2'

534150

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6826 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144818054 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 57 (T57A)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000159989]

AlphaFold

Q9EQR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029929
AA Change: T57A

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: T57A

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: ENSMUST00000159989

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	481	6.22e-19	SMART
FN3	762	861	4.93e0	SMART
low complexity region	880	1025	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,216,605	N728S	probably benign	Het
Acaca	T	C	11: 84,195,536	S63P	probably damaging	Het
Akr1c12	A	G	13: 4,275,734	V120A	probably benign	Het
Ap4b1	G	A	3: 103,812,908		probably null	Het
Apol7e	T	A	15: 77,718,291	V363D	probably damaging	Het
Bmpr1b	A	T	3: 141,857,406	L259Q	probably damaging	Het
Copb1	T	C	7: 114,226,719	T677A	probably benign	Het
Crhr2	T	C	6: 55,117,740		probably benign	Het
Cyp11a1	A	G	9: 58,025,087	T228A	probably damaging	Het
Dnah1	T	C	14: 31,286,290	I2084V	probably benign	Het
Dnajc17	T	C	2: 119,180,927	K174R	probably damaging	Het
Dnm2	T	A	9: 21,504,471	Y646*	probably null	Het
Dock9	G	A	14: 121,622,918	P866L	probably damaging	Het
Elmo3	A	T	8: 105,306,746	I115F	probably damaging	Het
Elmod1	T	C	9: 53,919,599	T268A	probably benign	Het
F10	T	C	8: 13,046,165		probably null	Het
Fmo4	C	T	1: 162,803,769	V210M	probably damaging	Het
Foxred2	G	T	15: 77,947,085	H509Q	probably benign	Het
Gm28710	A	G	5: 16,808,294	I219V	unknown	Het
Hyal6	A	G	6: 24,734,372	I101M	probably damaging	Het
Igkv5-48	T	C	6: 69,726,600	Y107C	probably damaging	Het
Jag1	A	G	2: 137,116,175		probably null	Het
Leng8	T	A	7: 4,145,320	V697E	probably damaging	Het
Mdga1	T	C	17: 29,970,026	N21S	unknown	Het
Midn	T	A	10: 80,154,127	C126*	probably null	Het
Mlh3	A	T	12: 85,245,824	V1303E	probably benign	Het
Myh4	T	C	11: 67,246,531	L526P	probably damaging	Het
Olfr1117-ps1	G	A	2: 87,284,328	E13K	probably benign	Het
Olfr1469	T	A	19: 13,411,088	V173E	probably benign	Het
Pde6b	C	T	5: 108,430,592	R799*	probably null	Het
Pde9a	A	G	17: 31,466,440	D382G	probably benign	Het
Pdrg1	A	C	2: 153,010,256		probably null	Het
Peg10	C	CATCAGGATG	6: 4,756,353		probably benign	Het
Ppp1r3a	C	A	6: 14,718,981	E645*	probably null	Het
Prrc2b	A	G	2: 32,222,288		probably null	Het
Ptprb	T	A	10: 116,317,372	M578K	probably benign	Het
Rasgrp3	G	T	17: 75,503,246	V314F	probably damaging	Het
Rps9	C	A	7: 3,705,776	D84E	probably benign	Het
Sdf2l1	C	G	16: 17,132,294	R6P	probably benign	Het
Serpina1e	A	G	12: 103,949,138	F270L	probably benign	Het
Slc24a5	G	A	2: 125,068,858	V70I	probably benign	Het
Slfn14	C	A	11: 83,281,818		probably null	Het
Smcr8	G	T	11: 60,778,862	D279Y	possibly damaging	Het
Snx16	A	T	3: 10,438,088	V33D	probably damaging	Het
Tesc	A	G	5: 118,056,418	T131A	probably damaging	Het
Tnfaip8l3	G	T	9: 54,027,499	T64K	possibly damaging	Het
Vmn2r1	T	A	3: 64,105,146	Y809*	probably null	Het
Vmn2r25	A	G	6: 123,823,112	V757A	probably damaging	Het
Vmn2r3	A	T	3: 64,274,906	Y457*	probably null	Het
Wee1	T	C	7: 110,124,663		probably null	Het
Wfdc3	C	T	2: 164,734,258	G38R	possibly damaging	Het
Zfp541	A	G	7: 16,078,982	E520G	probably damaging	Het
Zfp579	G	T	7: 4,994,426	A162D	probably benign	Het
Zfp811	A	G	17: 32,797,788	F425S	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
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
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'- CCACAAGAAACAGTTTAGGAGC -3'
(R):5'- AATCCAACTGCCACCTGGAG -3'

Sequencing Primer
(F):5'- CTGGACAGGAAACCTACTTTGTCG -3'
(R):5'- CATGTGGAAATGAGTTTACGGATCC -3'

Posted On

2018-09-12