Mutagenetix > Incidental Mutation

Incidental Mutation 'R9515:Clca3a2'

718444

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 144803047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 670 (Y670*)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably null
Transcript: ENSMUST00000029929
AA Change: Y670*

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: Y670*

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 null
Transcript: ENSMUST00000199029
AA Change: Y61*

SMART Domains

Protein: ENSMUSP00000143543
Gene: ENSMUSG00000028262
AA Change: Y61*

Domain	Start	End	E-Value	Type
Pfam:CLCA	1	188	6.5e-77	PFAM

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Aamdc	A	G	7: 97,575,601	V18A	probably benign	Het
Adam12	T	A	7: 133,907,644	I796F	probably benign	Het
Adcy7	T	A	8: 88,311,018	V238E	possibly damaging	Het
Adgrv1	G	A	13: 81,543,378	H1697Y	probably damaging	Het
Adrb1	A	G	19: 56,723,393	D341G	probably benign	Het
Akap13	T	C	7: 75,704,527	Y80H	probably benign	Het
Akap9	C	T	5: 4,055,709	L2927F	probably damaging	Het
Alox8	T	A	11: 69,185,124	D667V	probably damaging	Het
Arhgap30	A	G	1: 171,408,434	E792G	probably benign	Het
Arhgef16	A	G	4: 154,280,975	V561A	possibly damaging	Het
Bcap29	A	T	12: 31,626,757	Y105N	probably damaging	Het
Best2	T	A	8: 85,013,518	T6S		Het
Bfsp2	C	A	9: 103,480,052	V59L	possibly damaging	Het
Brd3	T	A	2: 27,459,803	D246V		Het
Btnl1	T	A	17: 34,381,144	V207E	probably benign	Het
C87499	T	A	4: 88,627,982	L374F	possibly damaging	Het
Ccdc122	T	A	14: 77,091,968	Y154N		Het
Cfap43	A	G	19: 47,785,375	Y656H	probably damaging	Het
Coprs	T	C	8: 13,885,081	Y158C	probably damaging	Het
Desi2	T	G	1: 178,256,604	M106R	unknown	Het
Dnaaf3	T	C	7: 4,528,101	E111G	probably damaging	Het
Epha10	T	A	4: 124,881,911	F13I	probably benign	Het
Fam193a	T	A	5: 34,458,027	F813L	possibly damaging	Het
Fbn1	C	A	2: 125,365,631	A981S	probably benign	Het
Gga2	T	A	7: 122,012,225	T37S	probably damaging	Het
Glra3	T	A	8: 56,125,264	F452Y	probably damaging	Het
Gm10338	T	A	14: 7,594,512	N96I	probably damaging	Het
Gm6502	G	A	5: 94,317,065	V437I	probably benign	Het
Gpd2	A	T	2: 57,305,854	E149V	possibly damaging	Het
Gpr137c	T	G	14: 45,278,772	L321*	probably null	Het
Gsdmc2	T	C	15: 63,830,829	I196M	probably benign	Het
Habp2	A	G	19: 56,306,821	D48G	probably benign	Het
Hdc	G	T	2: 126,616,229	P58T	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Hnrnpr	G	T	4: 136,336,304	V342F	probably damaging	Het
Hyal6	T	A	6: 24,734,930	Y287*	probably null	Het
Igsf8	T	C	1: 172,318,958	Y571H		Het
Kalrn	A	G	16: 34,034,494	S1999P	probably damaging	Het
Lama2	T	A	10: 27,001,174	N2672I	probably benign	Het
Lrrc7	T	C	3: 158,161,468	R879G	probably damaging	Het
Lrwd1	T	G	5: 136,131,559	H307P	probably benign	Het
Mau2	T	C	8: 70,027,503	Y318C	probably damaging	Het
Med13	T	C	11: 86,308,901	Q660R	probably benign	Het
Mepce	G	C	5: 137,785,497	P189R	probably damaging	Het
Mical3	T	A	6: 121,024,797	N578I	probably damaging	Het
Mug1	T	C	6: 121,884,676	S1366P	probably damaging	Het
Nol11	A	T	11: 107,173,452	D511E	possibly damaging	Het
Obscn	T	A	11: 59,103,514	H1514L	probably benign	Het
Olfr1021-ps1	A	T	2: 85,863,578	I56F	probably damaging	Het
Olfr1308	A	G	2: 111,960,239	V278A	possibly damaging	Het
Olfr1464-ps1	G	A	19: 13,282,194	T288I	unknown	Het
Olfr1537	T	C	9: 39,238,329	T32A	probably benign	Het
Olfr168	C	T	16: 19,530,276	A215T	probably benign	Het
Olfr854	T	C	9: 19,567,100	I95V	possibly damaging	Het
Olfr860	A	G	9: 19,846,520	L33P	possibly damaging	Het
Onecut3	C	A	10: 80,496,053	S349*	probably null	Het
Patl2	C	T	2: 122,124,893	G297E	probably benign	Het
Pdlim5	G	A	3: 142,304,350	T168M	probably damaging	Het
Pdzd2	A	C	15: 12,374,535	L1838R	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pkd1l3	T	C	8: 109,669,217	V2083A	probably damaging	Het
Pkhd1	T	A	1: 20,567,517	Y348F	probably damaging	Het
Plekhg5	T	A	4: 152,114,369	S1005T	probably benign	Het
Ppp4r1	T	A	17: 65,835,078	N709K	probably null	Het
Reln	T	C	5: 21,920,510	D2725G	possibly damaging	Het
Rnf41	T	A	10: 128,438,430	I317K	probably benign	Het
Rxfp2	T	C	5: 150,055,979	V268A	possibly damaging	Het
Sema5a	A	G	15: 32,679,227	H884R	probably damaging	Het
Serpinh1	A	T	7: 99,347,277	M236K	probably damaging	Het
Sh3pxd2a	A	G	19: 47,267,171	L1064P	probably damaging	Het
Skint6	T	C	4: 112,858,178	H947R	probably benign	Het
Slc12a3	T	A	8: 94,357,030	M895K	possibly damaging	Het
Slc22a3	C	A	17: 12,507,170	R52L	probably damaging	Het
Slc38a1	A	G	15: 96,590,084	L180P	probably damaging	Het
Slc4a3	T	C	1: 75,556,968	V1078A	probably damaging	Het
Snx30	T	A	4: 59,879,241	V160E	probably damaging	Het
Spata18	A	T	5: 73,672,497	I332F		Het
Stard9	C	G	2: 120,704,083	P3607R	probably damaging	Het
Svep1	T	A	4: 58,084,144	Y1876F	possibly damaging	Het
Sytl1	A	G	4: 133,258,980		probably null	Het
Tacc2	A	C	7: 130,764,311	K567Q	probably damaging	Het
Tfr2	A	G	5: 137,577,507	D295G	possibly damaging	Het
Tmem53	C	A	4: 117,267,925	H78Q	probably benign	Het
Tnnt2	G	A	1: 135,840,902	E10K	unknown	Het
Top2a	T	A	11: 99,012,144	I406F	probably damaging	Het
Ttc1	C	A	11: 43,730,478	R292I		Het
Ubr1	T	G	2: 120,873,146	T1568P	probably damaging	Het
Usp25	T	G	16: 77,055,188	V197G	probably damaging	Het
Usp9y	A	T	Y: 1,432,188	N432K	probably benign	Het
Vmn2r26	T	A	6: 124,061,178	Y571N	probably damaging	Het
Zfp7	T	C	15: 76,891,284	S509P	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
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
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'- ATGCTGGGCCCATTGACATG -3'
(R):5'- GACCTAGTGTTTAAGCTATGCTGTC -3'

Sequencing Primer
(F):5'- CTGGGCCCATTGACATGAATATTG -3'
(R):5'- AGTGTTTAAGCTATGCTGTCTACTC -3'

Posted On

2022-07-18