Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02066:Clca3a2'

185637

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL02066

Quality Score

Status

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 144813455 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 320 (D320A)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029929
AA Change: D320A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: D320A

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

noncoding transcript
Transcript: ENSMUST00000159643

Predicted Effect

probably benign
Transcript: ENSMUST00000197013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198543

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,273,232	R1133H	probably damaging	Het
A2m	T	A	6: 121,649,895	C569S	probably damaging	Het
Adck5	T	C	15: 76,595,206	V487A	probably damaging	Het
Agfg1	A	G	1: 82,893,558	T483A	probably damaging	Het
Akr1c12	T	C	13: 4,276,237	T82A	probably damaging	Het
Ano2	T	A	6: 125,690,739	L6Q	probably benign	Het
Anp32a	G	A	9: 62,377,333		probably benign	Het
Cep250	C	A	2: 155,976,521	A871D	probably damaging	Het
Chl1	T	C	6: 103,698,224	V624A	probably benign	Het
Clasp1	G	A	1: 118,565,260		probably null	Het
Cnot9	A	G	1: 74,527,053	Q201R	possibly damaging	Het
Cox4i2	C	T	2: 152,760,682	R99C	probably damaging	Het
Csmd1	A	T	8: 15,926,594	F2875I	probably damaging	Het
Dpagt1	A	G	9: 44,331,906	Y246C	probably damaging	Het
Dsc1	A	G	18: 20,108,803		probably benign	Het
Eef1d	G	A	15: 75,896,855	T464I	probably benign	Het
Efna2	C	T	10: 80,188,666		probably benign	Het
Etaa1	C	A	11: 17,946,687	V477L	probably benign	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fam83d	C	T	2: 158,785,873	T494M	probably benign	Het
Fbxo24	C	T	5: 137,612,870	V553M	probably damaging	Het
Gal3st2	A	G	1: 93,873,657	T12A	probably damaging	Het
Gba2	G	A	4: 43,570,175	T373I	probably benign	Het
Kitl	T	A	10: 100,076,882	C154S	probably damaging	Het
Lrp1b	A	T	2: 41,111,079	C2044*	probably null	Het
Lrp6	G	T	6: 134,450,937	S1564*	probably null	Het
Manea	A	T	4: 26,340,965		probably benign	Het
Myt1	T	C	2: 181,797,189	L168P	probably damaging	Het
Notch1	T	C	2: 26,460,396	E2244G	possibly damaging	Het
Nsd3	T	G	8: 25,713,488	V1343G	probably damaging	Het
Nup155	T	C	15: 8,157,766		probably benign	Het
Obox6	T	C	7: 15,834,703	I83V	probably benign	Het
Olfr358	A	T	2: 37,005,309	F102I	probably damaging	Het
Olfr538	A	T	7: 140,574,500	T116S	possibly damaging	Het
Pdgfra	T	C	5: 75,170,580	V282A	possibly damaging	Het
Pkd1l2	A	G	8: 117,009,564		probably benign	Het
Pmfbp1	A	T	8: 109,541,733	I971F	possibly damaging	Het
Ppp6c	T	C	2: 39,199,671	T199A	probably benign	Het
Ptpa	A	G	2: 30,443,296	T3A	possibly damaging	Het
Rb1	A	T	14: 73,198,534	M897K	probably benign	Het
Rptn	A	C	3: 93,397,129	S590R	probably benign	Het
Rreb1	A	G	13: 37,931,506	D947G	probably benign	Het
Samd9l	T	C	6: 3,376,575	T229A	probably damaging	Het
Slc5a9	A	T	4: 111,887,522	M423K	probably damaging	Het
Slc6a12	T	A	6: 121,352,056	I111N	probably damaging	Het
Slc6a15	T	A	10: 103,416,658	L561I	probably damaging	Het
Spag5	A	G	11: 78,304,532	N222D	probably benign	Het
Spp2	G	A	1: 88,417,243	M54I	probably benign	Het
Sptbn4	T	C	7: 27,364,515	E847G	possibly damaging	Het
Timd2	T	A	11: 46,678,223	N203Y	probably damaging	Het
Togaram1	G	T	12: 64,983,421	D1000Y	probably damaging	Het
Usp47	C	T	7: 112,064,397	R258C	probably damaging	Het
Uts2r	A	C	11: 121,160,697	D129A	probably damaging	Het
Vmn2r102	G	A	17: 19,693,929	M585I	probably benign	Het
Vmn2r77	A	T	7: 86,803,628	R518*	probably null	Het
Wdfy4	C	T	14: 33,149,566	R296K	probably benign	Het
Xirp2	A	T	2: 67,526,071	K3725N	probably benign	Het
Xntrpc	T	C	7: 102,077,829	S142P	probably benign	Het
Zfat	T	C	15: 68,180,829	H372R	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
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	unclassified	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

Posted On

2014-05-07