Mutagenetix > Incidental Mutation

Incidental Mutation 'R5931:Clca3a2'

461829

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

044126-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144502320-144525255 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 144797886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 193 (V193G)

Ref Sequence

ENSEMBL: ENSMUSP00000143161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040465] [ENSMUST00000198993]

AlphaFold

Q9EQR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040465
AA Change: V193G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036029
Gene: ENSMUSG00000036960
AA Change: V193G

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
VWA	309	485	3.55e-5	SMART
low complexity region	739	754	N/A	INTRINSIC
Blast:FN3	765	875	5e-21	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198993
AA Change: V193G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143161
Gene: ENSMUSG00000036960
AA Change: V193G

Domain	Start	End	E-Value	Type
Pfam:CLCA_N	7	265	1.7e-121	PFAM
VWA	309	485	2.2e-7	SMART
Pfam:DUF1973	494	674	7.8e-75	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,896,096 (GRCm39)	R315W	probably damaging	Het
Atrn	A	T	2: 130,775,356 (GRCm39)	Y153F	possibly damaging	Het
C4b	A	G	17: 34,948,167 (GRCm39)	V1644A	probably damaging	Het
Carmil3	A	C	14: 55,736,397 (GRCm39)	K654T	probably damaging	Het
Cdh1	T	C	8: 107,392,964 (GRCm39)		probably null	Het
Chrna1	C	T	2: 73,398,444 (GRCm39)	V332M	probably benign	Het
Cyld	A	G	8: 89,456,470 (GRCm39)		probably null	Het
Dbt	A	T	3: 116,317,074 (GRCm39)	E83D	possibly damaging	Het
Deup1	T	C	9: 15,472,618 (GRCm39)	R471G	possibly damaging	Het
Dgcr2	T	A	16: 17,675,173 (GRCm39)	I188F	possibly damaging	Het
Dgkg	G	A	16: 22,376,788 (GRCm39)	R524*	probably null	Het
Dnaaf9	G	A	2: 130,656,109 (GRCm39)	T2M	probably damaging	Het
Dnah5	A	T	15: 28,453,425 (GRCm39)	R4399W	probably damaging	Het
Egflam	G	A	15: 7,273,338 (GRCm39)	T579I	possibly damaging	Het
Eif2b2	C	T	12: 85,269,561 (GRCm39)	T211I	probably damaging	Het
Ep400	A	G	5: 110,883,386 (GRCm39)		probably benign	Het
Ermp1	C	G	19: 29,593,129 (GRCm39)	A788P	probably benign	Het
Ern1	A	G	11: 106,317,699 (GRCm39)	S142P	possibly damaging	Het
Fbxo15	T	A	18: 84,999,250 (GRCm39)	C351S	probably damaging	Het
Fndc3a	A	T	14: 72,806,307 (GRCm39)	S444T	probably benign	Het
Gabra6	G	A	11: 42,198,268 (GRCm39)	T384M	probably benign	Het
Gpbp1l1	T	C	4: 116,447,457 (GRCm39)	V379A	probably benign	Het
Hook2	G	T	8: 85,722,375 (GRCm39)	E305*	probably null	Het
Hoxa3	G	A	6: 52,149,568 (GRCm39)	A21V	probably damaging	Het
Hs1bp3	C	A	12: 8,391,915 (GRCm39)	P339Q	probably benign	Het
Igha	T	A	12: 113,223,710 (GRCm39)	T49S	probably benign	Het
Klra4	C	T	6: 130,030,016 (GRCm39)	V190M	possibly damaging	Het
Lats2	A	G	14: 57,933,588 (GRCm39)	L843P	probably damaging	Het
Lcmt1	A	G	7: 123,020,839 (GRCm39)	T255A	probably benign	Het
Lpar6	A	G	14: 73,476,368 (GRCm39)	I110V	probably damaging	Het
Lrrtm4	A	G	6: 79,998,722 (GRCm39)	I44V	probably damaging	Het
Mcm3ap	T	C	10: 76,307,000 (GRCm39)	V371A	probably benign	Het
Muc20	A	T	16: 32,614,944 (GRCm39)	D144E	possibly damaging	Het
Nphp3	T	A	9: 103,897,945 (GRCm39)	D417E	probably damaging	Het
Or7g33	A	T	9: 19,448,629 (GRCm39)	I199K	probably benign	Het
Or8b40	A	G	9: 38,027,670 (GRCm39)	I193V	probably benign	Het
Paqr7	A	C	4: 134,235,031 (GRCm39)	Y296S	probably damaging	Het
Pcdha4	A	T	18: 37,087,808 (GRCm39)	T664S	probably damaging	Het
Pelo	T	A	13: 115,225,379 (GRCm39)	Y282F	probably benign	Het
Plxna2	A	T	1: 194,493,178 (GRCm39)	I1818F	probably damaging	Het
Pnkd	A	G	1: 74,389,833 (GRCm39)	D319G	probably benign	Het
Pnma8a	C	A	7: 16,694,809 (GRCm39)	N221K	probably benign	Het
Ppp1cb	T	A	5: 32,640,810 (GRCm39)		probably null	Het
Prkca	T	G	11: 107,905,136 (GRCm39)	I201L	probably benign	Het
Prp2rt	A	G	13: 97,235,705 (GRCm39)	L14S	probably benign	Het
Rfx2	G	A	17: 57,087,778 (GRCm39)	R538C	probably damaging	Het
Rph3a	T	C	5: 121,101,936 (GRCm39)	Q100R	probably damaging	Het
Rtel1	C	T	2: 180,972,608 (GRCm39)	R29*	probably null	Het
Scel	T	A	14: 103,843,060 (GRCm39)	Y547*	probably null	Het
Sp100	C	T	1: 85,606,804 (GRCm39)	P303L	probably damaging	Het
Stk31	A	G	6: 49,446,236 (GRCm39)	S958G	probably benign	Het
Syne2	T	A	12: 76,055,639 (GRCm39)	V4168E	probably benign	Het
Tenm3	A	T	8: 49,099,533 (GRCm39)	S91T	probably benign	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,285,493 (GRCm39)		probably benign	Het
Tmem248	T	A	5: 130,258,349 (GRCm39)	I14N	probably damaging	Het
Tor3a	T	C	1: 156,484,057 (GRCm39)	I298V	probably benign	Het
Trim69	A	T	2: 122,009,075 (GRCm39)	K378N	probably damaging	Het
Ttc28	C	T	5: 111,232,975 (GRCm39)	P151S	possibly damaging	Het
Uaca	T	C	9: 60,779,294 (GRCm39)	V1225A	probably damaging	Het
Vps4b	T	C	1: 106,705,065 (GRCm39)	I343V	probably benign	Het
Wnk4	A	G	11: 101,152,047 (GRCm39)	T184A	probably damaging	Het
Ythdc2	T	A	18: 45,006,023 (GRCm39)	I1172K	possibly damaging	Het

Other mutations in Clca3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Clca3a2	APN	3	144,804,574 (GRCm39)	missense	probably damaging	1.00
IGL01019:Clca3a2	APN	3	144,519,388 (GRCm39)	nonsense	probably null
IGL01337:Clca3a2	APN	3	144,800,939 (GRCm39)	missense	probably damaging	1.00
IGL01389:Clca3a2	APN	3	144,783,629 (GRCm39)	critical splice donor site	probably null
IGL01595:Clca3a2	APN	3	144,793,768 (GRCm39)	missense	probably damaging	1.00
IGL01663:Clca3a2	APN	3	144,522,916 (GRCm39)	missense	probably damaging	0.97
IGL01704:Clca3a2	APN	3	144,800,979 (GRCm39)	missense	probably benign	0.04
IGL01779:Clca3a2	APN	3	144,525,139 (GRCm39)	missense	possibly damaging	0.47
IGL02066:Clca3a2	APN	3	144,519,216 (GRCm39)	missense	probably benign
IGL02301:Clca3a2	APN	3	144,512,133 (GRCm39)	missense	probably damaging	0.98
IGL02416:Clca3a2	APN	3	144,790,777 (GRCm39)	missense	probably benign	0.02
IGL02455:Clca3a2	APN	3	144,787,172 (GRCm39)	missense	probably benign	0.00
IGL02481:Clca3a2	APN	3	144,790,701 (GRCm39)	missense	possibly damaging	0.92
IGL02526:Clca3a2	APN	3	144,793,779 (GRCm39)	missense	probably benign	0.02
IGL02619:Clca3a2	APN	3	144,512,083 (GRCm39)	missense	probably damaging	1.00
IGL02797:Clca3a2	APN	3	144,787,024 (GRCm39)	missense	probably benign	0.02
IGL02852:Clca3a2	APN	3	144,512,104 (GRCm39)	missense	probably damaging	0.98
IGL02901:Clca3a2	APN	3	144,522,529 (GRCm39)	missense	probably damaging	1.00
IGL03162:Clca3a2	APN	3	144,512,177 (GRCm39)	missense	probably damaging	1.00
IGL03253:Clca3a2	APN	3	144,777,324 (GRCm39)	missense	probably benign	0.41
IGL03256:Clca3a2	APN	3	144,792,153 (GRCm39)	missense	possibly damaging	0.75
IGL03294:Clca3a2	APN	3	144,803,530 (GRCm39)	missense	probably damaging	1.00
3370:Clca3a2	UTSW	3	144,783,738 (GRCm39)	missense	probably damaging	1.00
R0032:Clca3a2	UTSW	3	144,522,494 (GRCm39)	missense	probably benign	0.01
R0244:Clca3a2	UTSW	3	144,519,659 (GRCm39)	missense	possibly damaging	0.90
R0479:Clca3a2	UTSW	3	144,796,610 (GRCm39)	missense	probably damaging	1.00
R0542:Clca3a2	UTSW	3	144,781,571 (GRCm39)	splice site	probably benign
R0629:Clca3a2	UTSW	3	144,778,000 (GRCm39)	missense	probably benign
R1249:Clca3a2	UTSW	3	144,508,765 (GRCm39)	missense	possibly damaging	0.80
R1370:Clca3a2	UTSW	3	144,519,624 (GRCm39)	splice site	probably benign
R1488:Clca3a2	UTSW	3	144,789,925 (GRCm39)	missense	possibly damaging	0.49
R1523:Clca3a2	UTSW	3	144,777,405 (GRCm39)	nonsense	probably null
R1568:Clca3a2	UTSW	3	144,781,410 (GRCm39)	nonsense	probably null
R1586:Clca3a2	UTSW	3	144,516,477 (GRCm39)	missense	possibly damaging	0.94
R1650:Clca3a2	UTSW	3	144,797,973 (GRCm39)	missense	probably damaging	1.00
R1771:Clca3a2	UTSW	3	144,787,171 (GRCm39)	missense	probably benign	0.12
R1776:Clca3a2	UTSW	3	144,519,681 (GRCm39)	missense	probably damaging	1.00
R1797:Clca3a2	UTSW	3	144,503,398 (GRCm39)	missense	probably benign	0.01
R1869:Clca3a2	UTSW	3	144,512,164 (GRCm39)	missense	probably benign	0.44
R1871:Clca3a2	UTSW	3	144,503,398 (GRCm39)	missense	probably benign	0.01
R1919:Clca3a2	UTSW	3	144,516,457 (GRCm39)	missense	probably benign
R1923:Clca3a2	UTSW	3	144,511,491 (GRCm39)	missense	probably damaging	1.00
R2101:Clca3a2	UTSW	3	144,783,699 (GRCm39)	missense	probably damaging	0.99
R2200:Clca3a2	UTSW	3	144,519,685 (GRCm39)	missense	probably benign	0.10
R2242:Clca3a2	UTSW	3	144,796,551 (GRCm39)	missense	probably damaging	0.98
R2324:Clca3a2	UTSW	3	144,512,041 (GRCm39)	critical splice donor site	probably null
R2937:Clca3a2	UTSW	3	144,519,679 (GRCm39)	missense	probably benign	0.06
R3429:Clca3a2	UTSW	3	144,512,088 (GRCm39)	missense	probably benign	0.07
R3434:Clca3a2	UTSW	3	144,514,522 (GRCm39)	unclassified	probably benign
R3551:Clca3a2	UTSW	3	144,508,842 (GRCm39)	missense	probably damaging	1.00
R3751:Clca3a2	UTSW	3	144,777,216 (GRCm39)	missense	probably benign	0.04
R3952:Clca3a2	UTSW	3	144,508,822 (GRCm39)	missense	probably damaging	1.00
R4120:Clca3a2	UTSW	3	144,516,613 (GRCm39)	missense	probably benign	0.25
R4383:Clca3a2	UTSW	3	144,512,081 (GRCm39)	missense	probably benign	0.02
R4496:Clca3a2	UTSW	3	144,797,926 (GRCm39)	missense	possibly damaging	0.94
R4518:Clca3a2	UTSW	3	144,514,466 (GRCm39)	missense	probably damaging	1.00
R4598:Clca3a2	UTSW	3	144,511,444 (GRCm39)	missense	probably damaging	1.00
R4801:Clca3a2	UTSW	3	144,513,112 (GRCm39)	missense	possibly damaging	0.95
R4802:Clca3a2	UTSW	3	144,513,112 (GRCm39)	missense	possibly damaging	0.95
R4816:Clca3a2	UTSW	3	144,516,613 (GRCm39)	missense	probably benign	0.25
R4934:Clca3a2	UTSW	3	144,523,692 (GRCm39)	missense	probably damaging	1.00
R4942:Clca3a2	UTSW	3	144,512,263 (GRCm39)	missense	probably damaging	1.00
R4962:Clca3a2	UTSW	3	144,783,640 (GRCm39)	missense	probably damaging	1.00
R5123:Clca3a2	UTSW	3	144,512,104 (GRCm39)	missense	probably damaging	1.00
R5156:Clca3a2	UTSW	3	144,511,599 (GRCm39)	missense	probably benign	0.26
R5275:Clca3a2	UTSW	3	144,519,340 (GRCm39)	missense	probably damaging	1.00
R5344:Clca3a2	UTSW	3	144,793,703 (GRCm39)	missense	probably damaging	1.00
R5372:Clca3a2	UTSW	3	144,503,286 (GRCm39)	missense	probably benign	0.00
R5424:Clca3a2	UTSW	3	144,789,942 (GRCm39)	missense	probably damaging	0.99
R5656:Clca3a2	UTSW	3	144,503,393 (GRCm39)	missense	probably benign	0.26
R6059:Clca3a2	UTSW	3	144,516,531 (GRCm39)	missense	probably damaging	1.00
R6155:Clca3a2	UTSW	3	144,525,118 (GRCm39)	missense	probably damaging	0.99
R6181:Clca3a2	UTSW	3	144,796,469 (GRCm39)	nonsense	probably null
R6254:Clca3a2	UTSW	3	144,507,895 (GRCm39)	missense	probably benign
R6336:Clca3a2	UTSW	3	144,512,239 (GRCm39)	missense	probably benign
R6470:Clca3a2	UTSW	3	144,510,024 (GRCm39)	splice site	probably null
R6593:Clca3a2	UTSW	3	144,514,338 (GRCm39)	critical splice donor site	probably null
R6598:Clca3a2	UTSW	3	144,792,246 (GRCm39)	nonsense	probably null
R6631:Clca3a2	UTSW	3	144,519,405 (GRCm39)	missense	probably benign
R6826:Clca3a2	UTSW	3	144,523,815 (GRCm39)	missense	possibly damaging	0.46
R6836:Clca3a2	UTSW	3	144,512,144 (GRCm39)	missense	probably damaging	0.97
R6896:Clca3a2	UTSW	3	144,514,462 (GRCm39)	missense	probably damaging	1.00
R7167:Clca3a2	UTSW	3	144,803,545 (GRCm39)	missense	probably benign	0.40
R7211:Clca3a2	UTSW	3	144,519,775 (GRCm39)	missense	probably benign	0.00
R7229:Clca3a2	UTSW	3	144,789,869 (GRCm39)	missense	probably damaging	1.00
R7256:Clca3a2	UTSW	3	144,796,608 (GRCm39)	missense	probably damaging	0.99
R7324:Clca3a2	UTSW	3	144,514,372 (GRCm39)	missense	probably damaging	0.99
R7365:Clca3a2	UTSW	3	144,804,545 (GRCm39)	missense	probably damaging	1.00
R7411:Clca3a2	UTSW	3	144,507,860 (GRCm39)	missense	probably damaging	1.00
R7486:Clca3a2	UTSW	3	144,503,362 (GRCm39)	missense	probably damaging	1.00
R7491:Clca3a2	UTSW	3	144,519,340 (GRCm39)	missense	probably damaging	1.00
R7521:Clca3a2	UTSW	3	144,507,674 (GRCm39)	makesense	probably null
R7813:Clca3a2	UTSW	3	144,790,726 (GRCm39)	missense	probably benign	0.26
R7889:Clca3a2	UTSW	3	144,516,574 (GRCm39)	nonsense	probably null
R7946:Clca3a2	UTSW	3	144,513,075 (GRCm39)	critical splice donor site	probably null
R7991:Clca3a2	UTSW	3	144,519,756 (GRCm39)	missense	probably benign	0.00
R8022:Clca3a2	UTSW	3	144,511,527 (GRCm39)	missense	probably damaging	1.00
R8077:Clca3a2	UTSW	3	144,777,288 (GRCm39)	missense	possibly damaging	0.56
R8169:Clca3a2	UTSW	3	144,783,653 (GRCm39)	missense	probably damaging	1.00
R8290:Clca3a2	UTSW	3	144,793,719 (GRCm39)	missense	possibly damaging	0.93
R8300:Clca3a2	UTSW	3	144,804,692 (GRCm39)	missense	probably benign	0.00
R8344:Clca3a2	UTSW	3	144,511,703 (GRCm39)	critical splice acceptor site	probably null
R8350:Clca3a2	UTSW	3	144,783,668 (GRCm39)	missense	probably benign	0.19
R8367:Clca3a2	UTSW	3	144,523,508 (GRCm39)	splice site	probably null
R8371:Clca3a2	UTSW	3	144,513,114 (GRCm39)	nonsense	probably null
R8814:Clca3a2	UTSW	3	144,503,525 (GRCm39)	missense	probably benign	0.18
R8854:Clca3a2	UTSW	3	144,783,852 (GRCm39)	missense	possibly damaging	0.94
R8876:Clca3a2	UTSW	3	144,777,360 (GRCm39)	missense	probably benign	0.00
R8887:Clca3a2	UTSW	3	144,790,810 (GRCm39)	nonsense	probably null
R9006:Clca3a2	UTSW	3	144,783,789 (GRCm39)	missense	probably damaging	0.99
R9031:Clca3a2	UTSW	3	144,511,475 (GRCm39)	missense	probably damaging	1.00
R9069:Clca3a2	UTSW	3	144,519,447 (GRCm39)	splice site	probably benign
R9093:Clca3a2	UTSW	3	144,781,481 (GRCm39)	missense	probably benign	0.20
R9190:Clca3a2	UTSW	3	144,796,599 (GRCm39)	missense	probably benign	0.00
R9201:Clca3a2	UTSW	3	144,519,684 (GRCm39)	missense	probably benign	0.00
R9209:Clca3a2	UTSW	3	144,778,005 (GRCm39)	missense	probably benign	0.00
R9261:Clca3a2	UTSW	3	144,525,158 (GRCm39)	missense	probably benign
R9469:Clca3a2	UTSW	3	144,507,938 (GRCm39)	missense	probably damaging	1.00
R9501:Clca3a2	UTSW	3	144,777,322 (GRCm39)	nonsense	probably null
R9515:Clca3a2	UTSW	3	144,508,808 (GRCm39)	nonsense	probably null
R9569:Clca3a2	UTSW	3	144,513,075 (GRCm39)	critical splice donor site	probably null
R9664:Clca3a2	UTSW	3	144,503,575 (GRCm39)	missense	probably damaging	1.00
X0025:Clca3a2	UTSW	3	144,792,265 (GRCm39)	missense	possibly damaging	0.87
Z1177:Clca3a2	UTSW	3	144,792,212 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAATTTTCTCCTTGCTATATGGGC -3'
(R):5'- TGTCTTCACTGACCAGCAAG -3'

Sequencing Primer
(F):5'- TGTGGACAAAGCTGACCTTG -3'
(R):5'- TTCACTGACCAGCAAGGCCTG -3'

Posted On

2017-02-28