Mutagenetix > Incidental Mutation

Incidental Mutation 'R3751:Clca3a2'

271198

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

040736-MU

Accession Numbers

Essential gene?

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

Stock #

R3751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144502320-144525255 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144777216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 885 (M885K)

Ref Sequence

ENSEMBL: ENSMUSP00000036029 (fasta)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably benign
Transcript: ENSMUST00000040465
AA Change: M885K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000036029
Gene: ENSMUSG00000036960
AA Change: M885K

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

probably benign
Transcript: ENSMUST00000198993

SMART Domains

Protein: ENSMUSP00000143161
Gene: ENSMUSG00000036960

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

93% (43/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	T	7: 12,289,973 (GRCm39)	R183I	probably benign	Het
BC016579	A	T	16: 45,453,361 (GRCm39)		probably null	Het
BC051665	A	T	13: 60,931,145 (GRCm39)	F258I	probably damaging	Het
Brd1	C	T	15: 88,573,821 (GRCm39)	V1093I	possibly damaging	Het
Ccdc125	A	G	13: 100,814,459 (GRCm39)	D13G	possibly damaging	Het
Ceacam18	T	A	7: 43,291,372 (GRCm39)	H271Q	probably damaging	Het
Cep104	A	G	4: 154,066,213 (GRCm39)	Y137C	probably damaging	Het
Clca3a1	A	G	3: 144,724,424 (GRCm39)	V212A	probably benign	Het
Col6a4	G	T	9: 105,949,313 (GRCm39)	T774N	probably damaging	Het
D430041D05Rik	T	C	2: 104,085,403 (GRCm39)	T1049A	possibly damaging	Het
Dlk1	A	G	12: 109,426,239 (GRCm39)	I276V	probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Efcab9	T	C	11: 32,477,420 (GRCm39)	H34R	probably benign	Het
Erc1	T	A	6: 119,801,921 (GRCm39)	H32L	probably damaging	Het
Ezh2	T	C	6: 47,532,998 (GRCm39)	I141M	possibly damaging	Het
Fbln1	T	A	15: 85,111,279 (GRCm39)	C144*	probably null	Het
Iqsec3	C	T	6: 121,353,214 (GRCm39)	A1135T	probably benign	Het
Irak4	T	C	15: 94,459,476 (GRCm39)	I364T	probably damaging	Het
Itpr1	T	A	6: 108,326,641 (GRCm39)	I121N	probably damaging	Het
Krtap17-1	A	T	11: 99,884,481 (GRCm39)	C95*	probably null	Het
Lrrd1	T	A	5: 3,900,282 (GRCm39)	S196T	probably benign	Het
Man2c1	A	G	9: 57,048,058 (GRCm39)	Y748C	probably damaging	Het
Map4	A	G	9: 109,867,742 (GRCm39)		probably benign	Het
Mib2	A	G	4: 155,739,741 (GRCm39)	F810S	probably damaging	Het
Mtmr9	A	G	14: 63,780,997 (GRCm39)	L31P	probably damaging	Het
Myo5c	A	G	9: 75,183,284 (GRCm39)	Q886R	probably damaging	Het
Nhsl3	A	G	4: 129,118,115 (GRCm39)		probably benign	Het
Or2g1	T	C	17: 38,107,123 (GRCm39)	S263P	possibly damaging	Het
Or6c38	T	A	10: 128,929,175 (GRCm39)	I223F	probably damaging	Het
Or7h8	C	T	9: 20,124,556 (GRCm39)	L304F	probably damaging	Het
Paqr8	A	G	1: 21,005,856 (GRCm39)	T337A	probably benign	Het
Pdgfd	A	T	9: 6,337,447 (GRCm39)		probably benign	Het
Ppm1k	T	G	6: 57,501,845 (GRCm39)	E106A	probably benign	Het
Rbp3	A	T	14: 33,677,969 (GRCm39)	E639V	probably damaging	Het
Rnf214	A	C	9: 45,778,901 (GRCm39)	I581S	probably damaging	Het
Scaf11	A	G	15: 96,316,417 (GRCm39)	V1049A	probably damaging	Het
Slc51a	A	G	16: 32,295,292 (GRCm39)	L262P	probably benign	Het
Slc6a21	G	A	7: 44,929,928 (GRCm39)	V139I	probably benign	Het
Slc8a3	G	T	12: 81,250,912 (GRCm39)	L684M	probably damaging	Het
Spg7	G	C	8: 123,814,112 (GRCm39)	R457P	probably damaging	Het
Tnks1bp1	C	T	2: 84,889,066 (GRCm39)		probably benign	Het
Vmn1r189	T	C	13: 22,286,382 (GRCm39)	T152A	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zfp366	A	G	13: 99,365,352 (GRCm39)	Y171C	probably 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
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
R5931:Clca3a2	UTSW	3	144,797,886 (GRCm39)	missense	possibly damaging	0.88
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'- AGAAGGAAGATACTGTGCCTGC -3'
(R):5'- TGGTGAATTCGTCAGAGCTAGTTC -3'

Sequencing Primer
(F):5'- AAGATACTGTGCCTGCTTGTTCATAG -3'
(R):5'- GAATTCGTCAGAGCTAGTTCCTCAG -3'

Posted On

2015-03-18