Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02619:Clca3a2'

300758

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

Accession Numbers

Essential gene?

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

Stock #

IGL02619

Quality Score

Status

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144806322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 551 (N551S)

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: N551S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: N551S

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

unknown
Transcript: ENSMUST00000197013
AA Change: N111S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198543

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	T	1: 179,792,451	G220E	possibly damaging	Het
Arhgef10l	A	G	4: 140,594,193	I101T	probably benign	Het
Armc8	T	C	9: 99,527,069		probably benign	Het
Camkk2	A	T	5: 122,764,235	C4S	probably damaging	Het
Ccdc174	T	A	6: 91,899,557	D458E	possibly damaging	Het
Cercam	A	G	2: 29,880,674	N419S	probably benign	Het
Cldn18	T	A	9: 99,698,935	I87F	probably damaging	Het
Ctso	T	A	3: 81,941,529		probably benign	Het
Ddhd2	C	A	8: 25,746,954		probably null	Het
Dscaml1	T	A	9: 45,447,796	Y118N	probably damaging	Het
Ece1	C	T	4: 137,938,733	A296V	probably benign	Het
Fbxo40	T	A	16: 36,970,404	I115F	possibly damaging	Het
Fkbp9	T	A	6: 56,850,624	N143K	probably damaging	Het
Foxk2	G	T	11: 121,299,576		probably benign	Het
Ggnbp1	A	G	17: 27,029,555	K33E	probably benign	Het
Hace1	A	T	10: 45,671,434		probably benign	Het
Hk3	A	T	13: 55,014,294	C133S	probably damaging	Het
Kbtbd3	C	T	9: 4,331,252	A542V	probably damaging	Het
Lrch2	A	C	X: 147,480,541	V363G	probably damaging	Het
Lrch2	C	T	X: 147,519,135	C264Y	probably damaging	Het
Lrrc56	C	A	7: 141,207,633		probably benign	Het
Lrtm2	C	T	6: 119,317,238	V311M	probably damaging	Het
N4bp1	G	T	8: 86,860,901	Q470K	probably benign	Het
Naa15	A	C	3: 51,460,131	D575A	probably benign	Het
Ncaph	A	T	2: 127,127,536	V69D	probably damaging	Het
Nlrp5	G	A	7: 23,424,064		probably null	Het
Nmbr	A	G	10: 14,760,587	D100G	probably damaging	Het
Ofcc1	C	T	13: 40,097,077	V588M	possibly damaging	Het
Olfr142	G	T	2: 90,252,505	T161N	probably damaging	Het
Olfr481	C	A	7: 108,081,742		probably benign	Het
Osmr	C	A	15: 6,841,994	R314M	probably damaging	Het
Pcdhb16	C	T	18: 37,478,217	Q77*	probably null	Het
Pglyrp4	G	A	3: 90,735,648		probably null	Het
Ptprh	A	G	7: 4,549,499	F922S	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Rp1	T	A	1: 4,348,450	Q813L	possibly damaging	Het
Sgtb	A	G	13: 104,118,414	N64S	probably benign	Het
Slc5a12	T	C	2: 110,640,856	V481A	probably benign	Het
Slitrk1	A	G	14: 108,911,917	V454A	probably benign	Het
Sntg2	C	A	12: 30,267,026		probably null	Het
Synj1	C	T	16: 90,974,045	V499I	probably damaging	Het
Tmco1	T	C	1: 167,326,028		probably benign	Het
Tmem38b	T	C	4: 53,848,871	I92T	probably damaging	Het
Tmem9	T	C	1: 136,027,407	V93A	probably benign	Het
Ttn	T	A	2: 76,795,238	R15080S	possibly damaging	Het
Ube2e3	T	C	2: 78,918,721	I138T	probably damaging	Het
Urgcp	A	G	11: 5,715,752	I862T	possibly damaging	Het
Vmn1r68	A	T	7: 10,527,676	I165N	probably benign	Het
Washc4	G	A	10: 83,558,853	V316I	possibly damaging	Het
Zfp111	A	T	7: 24,199,688	L166Q	possibly damaging	Het
Zfyve1	A	T	12: 83,550,944		probably benign	Het
Zscan18	A	G	7: 12,774,866		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
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
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

Posted On

2015-04-16