Mutagenetix > Incidental Mutations

Incidental Mutation 'R6470:Clca3a2'

540705

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: 0.163) question?

Stock #

R6470 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 144804263 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143543 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000029929

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262

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 null
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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	G	T	8: 87,564,028	V5L	probably benign	Het
Bptf	A	G	11: 107,072,767	V1804A	probably damaging	Het
Brinp3	A	G	1: 146,901,906	D697G	probably damaging	Het
Carns1	T	C	19: 4,171,783	T158A	possibly damaging	Het
Cd300lg	A	G	11: 102,050,505	N244S	possibly damaging	Het
Ces3b	A	T	8: 105,088,653	Q12L	possibly damaging	Het
Chd9	A	G	8: 90,932,798	T129A	probably damaging	Het
Cubn	G	T	2: 13,322,993	R2674S	possibly damaging	Het
Cyp2b10	T	C	7: 25,911,656	I146T	possibly damaging	Het
Cyp4v3	C	T	8: 45,317,736	W244*	probably null	Het
Dnah6	T	A	6: 73,074,586	D3075V	probably damaging	Het
Dpy19l2	A	T	9: 24,660,743	I327N	possibly damaging	Het
Dst	T	A	1: 34,295,237	F4849I	probably damaging	Het
Dysf	A	G	6: 84,066,944	I256V	possibly damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fam71e2	T	C	7: 4,757,851	T621A	probably benign	Het
Gba	C	T	3: 89,204,081	P51L	probably benign	Het
Gm9936	T	C	5: 114,857,421		probably benign	Het
Gria4	A	G	9: 4,503,680	F312S	probably damaging	Het
Ifna2	T	C	4: 88,683,514	N89S	probably benign	Het
Il17rb	A	G	14: 30,002,909	S207P	probably benign	Het
Itga9	A	T	9: 118,897,267	I430F	probably damaging	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Ltk	A	T	2: 119,753,035		probably null	Het
Nat8l	C	T	5: 33,998,492	T164M	probably damaging	Het
Nrf1	A	G	6: 30,102,200	D166G	probably damaging	Het
Nxph3	A	G	11: 95,511,093	I165T	possibly damaging	Het
Olfr17	T	C	7: 107,097,744	I93T	probably damaging	Het
Phlpp2	A	G	8: 109,937,194	D955G	probably benign	Het
Pianp	T	A	6: 124,999,269		probably benign	Het
Plin2	G	T	4: 86,668,370	Q75K	probably damaging	Het
Qrich1	T	C	9: 108,534,518	V414A	probably damaging	Het
Ros1	A	G	10: 52,166,044		probably null	Het
Sardh	C	T	2: 27,244,372	R44Q	probably damaging	Het
Scaf4	C	T	16: 90,229,638	W1072*	probably null	Het
Sh3rf3	A	G	10: 58,983,969	K201E	probably damaging	Het
Shprh	G	T	10: 11,171,937	A1010S	probably damaging	Het
Slc35d1	A	G	4: 103,189,822	S260P	probably damaging	Het
Smap2	GACTCTAC	GAC	4: 120,973,085		probably benign	Het
Sptb	A	G	12: 76,612,829	L1099P	probably damaging	Het
Srrt	T	C	5: 137,302,656	D90G	probably damaging	Het
Syt10	T	C	15: 89,792,601	D394G	probably damaging	Het
Tlr3	T	C	8: 45,397,385	D301G	probably damaging	Het
Ubr3	T	A	2: 69,965,460	M916K	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
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

Predicted Primers

PCR Primer
(F):5'- CACAGTAACAAAGTAGCTCAGTG -3'
(R):5'- TGTGGTTCTAGCAGCACTGAG -3'

Sequencing Primer
(F):5'- TCAGTGCTGCTAGAACCACAG -3'
(R):5'- GCACTGAGCTACTTTGTTACAG -3'

Posted On

2018-11-14