Mutagenetix > Incidental Mutation

Incidental Mutation 'R7486:Clca3a2'

580146

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

045560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R7486 (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 A at 144797601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 863 (I863F)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029929
AA Change: I863F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: I863F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	T	C	12: 81,558,883	I702V	probably benign	Het
Adgre5	T	C	8: 83,723,886	E815G	probably damaging	Het
Adgrl2	A	G	3: 148,817,694	V298A		Het
Akp3	A	G	1: 87,125,479	D91G	probably damaging	Het
Ano8	A	G	8: 71,484,998		probably null	Het
Blvra	T	C	2: 127,087,323	S136P	unknown	Het
Cacul1	T	A	19: 60,580,430	M97L	probably benign	Het
Ccdc80	T	C	16: 45,126,179	V827A	probably damaging	Het
Cep68	T	C	11: 20,242,166	E11G	probably benign	Het
Cfap221	A	T	1: 119,923,592	V813E	possibly damaging	Het
Chd6	A	G	2: 160,950,003	V2478A	probably damaging	Het
Chmp6	T	C	11: 119,916,957	F148S	probably benign	Het
Cnnm2	T	C	19: 46,762,074	V101A	possibly damaging	Het
Cpne8	A	T	15: 90,515,906		probably null	Het
Dmbt1	T	G	7: 131,066,462	C483G	unknown	Het
Dnah7b	G	A	1: 46,290,734	G3246D	probably damaging	Het
Dnajc3	C	A	14: 118,972,404	T297K	probably benign	Het
Dpm3	A	G	3: 89,266,727		probably null	Het
Eef2k	A	G	7: 120,858,570	N51D	probably benign	Het
Erc1	G	A	6: 119,594,946	Q1022*	probably null	Het
Ercc5	T	A	1: 44,148,064	M1K	probably null	Het
Fam114a2	C	T	11: 57,513,689	G83D	probably damaging	Het
Fat4	C	A	3: 38,957,427	Y2225*	probably null	Het
Frk	G	A	10: 34,547,296	W123*	probably null	Het
Gm11568	T	A	11: 99,858,466	C166S	unknown	Het
Gm12666	A	T	4: 92,191,269	V105E	probably benign	Het
Gpr153	A	G	4: 152,282,401	D337G	probably benign	Het
Gpt2	T	C	8: 85,525,606	F517L	probably damaging	Het
Gsg1	C	T	6: 135,237,429	E361K	probably benign	Het
Hsfy2	G	A	1: 56,636,971	R136*	probably null	Het
Insm1	G	A	2: 146,223,818	R518H	probably damaging	Het
Kank1	G	A	19: 25,410,829	C622Y	probably damaging	Het
Katnb1	T	A	8: 95,098,729	S640R	probably damaging	Het
Kcnmb4	A	G	10: 116,418,275	V199A	probably benign	Het
Lamb1	T	G	12: 31,287,442	S391A	probably benign	Het
Macf1	T	G	4: 123,409,581	D376A	probably benign	Het
Map7d1	C	A	4: 126,234,386	R614L	unknown	Het
Mcm8	C	T	2: 132,839,520	R667W	probably damaging	Het
Med13l	C	T	5: 118,728,474	T531I	probably benign	Het
Mstn	G	T	1: 53,063,969	A155S	probably damaging	Het
Mycbp2	C	T	14: 103,197,254	R2251K	probably damaging	Het
Myo19	T	C	11: 84,905,637	S692P	probably benign	Het
Nipbl	A	T	15: 8,295,636	N2514K	probably benign	Het
Nkd2	T	A	13: 73,847,442		probably benign	Het
Nox3	T	A	17: 3,669,944	Y322F	probably damaging	Het
Nt5dc1	A	G	10: 34,399,809	Y135H	probably benign	Het
Olfr389	T	C	11: 73,777,021	Y102C	probably damaging	Het
Olfr533	C	T	7: 140,466,034		probably benign	Het
Olfr979	T	A	9: 40,000,885	Y114F	probably benign	Het
Oog3	T	A	4: 144,158,172	H398L	probably benign	Het
Otogl	A	G	10: 107,821,988	L1027P	probably damaging	Het
Pcdh20	T	A	14: 88,468,614	I417F	possibly damaging	Het
Pcdha12	T	A	18: 37,021,557	V443E	probably damaging	Het
Pcdhga2	A	G	18: 37,670,408	D435G	probably benign	Het
Pcnt	G	T	10: 76,418,436	T853K	probably benign	Het
Pcnt	T	C	10: 76,418,437	T853A	probably benign	Het
Pgghg	T	A	7: 140,942,480	S57R	probably benign	Het
Ppm1m	T	C	9: 106,196,611	D301G	probably damaging	Het
Ppp6r1	A	G	7: 4,639,900	V519A	probably benign	Het
Prss41	ACAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCA	17: 23,844,098		probably benign	Het
Rasa3	C	T	8: 13,590,201		probably null	Het
Robo4	T	C	9: 37,405,574	V395A	probably damaging	Het
Scrib	A	G	15: 76,057,650	S1123P	probably damaging	Het
Setd1b	A	G	5: 123,163,592	K45E	probably benign	Het
Slc14a1	T	C	18: 78,111,524	S216G	probably benign	Het
Slc25a45	A	G	19: 5,884,969	Y282C	probably damaging	Het
Slc6a5	T	C	7: 49,917,330	S255P	possibly damaging	Het
Smc2	A	T	4: 52,462,861	Q617L	possibly damaging	Het
Spo11	G	A	2: 172,984,077	D103N	probably benign	Het
Tcf20	A	T	15: 82,853,734	M1172K	possibly damaging	Het
Tesc	T	A	5: 118,046,317	S21T	probably benign	Het
Tie1	C	A	4: 118,479,904		probably null	Het
Trim24	T	G	6: 37,957,839		probably null	Het
Trpm7	A	G	2: 126,831,195		probably null	Het
Unc13d	T	C	11: 116,074,433	D193G	possibly damaging	Het
Upk3a	A	T	15: 85,018,024		probably null	Het
Vmn2r25	T	C	6: 123,823,142	N747S	probably damaging	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,440,074		probably benign	Het
Zbtb2	G	A	10: 4,369,025	Q334*	probably null	Het
Zfp653	T	C	9: 22,056,528	N494D	probably damaging	Het
Zfp865	A	G	7: 5,031,260	D748G	possibly damaging	Het
Zzef1	T	C	11: 72,864,786	S1014P	possibly 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
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'- GACAGGCAGCCTTTGAGTGTAG -3'
(R):5'- CATCCTCTGGGTCTCCAAGAAG -3'

Sequencing Primer
(F):5'- CAGCCTTTGAGTGTAGTAAAGTC -3'
(R):5'- CTCTGGGTCTCCAAGAAGATTTTAAC -3'

Posted On

2019-10-07