Mutagenetix > Incidental Mutation

Incidental Mutation 'R5344:Clca3a2'

422477

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

042923-MU

Accession Numbers

Essential gene?

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

Stock #

R5344 (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 144793703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 317 (D317E)

Ref Sequence

ENSEMBL: ENSMUSP00000143161 (fasta)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000040465
AA Change: D317E

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

SMART Domains

Protein: ENSMUSP00000036029
Gene: ENSMUSG00000036960
AA Change: D317E

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 damaging
Transcript: ENSMUST00000198993
AA Change: D317E

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

SMART Domains

Protein: ENSMUSP00000143161
Gene: ENSMUSG00000036960
AA Change: D317E

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

0.4672

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,289,801 (GRCm39)	C1499G	probably benign	Het
Aldoart1	A	G	4: 72,770,352 (GRCm39)	V152A	possibly damaging	Het
Alms1	T	C	6: 85,673,771 (GRCm39)	L3591P	probably benign	Het
Ankrd12	A	T	17: 66,356,843 (GRCm39)	M58K	probably damaging	Het
Asb3	A	C	11: 31,051,114 (GRCm39)	I523L	probably benign	Het
Ascl2	T	C	7: 142,522,436 (GRCm39)	H4R	possibly damaging	Het
Asic2	T	C	11: 80,862,413 (GRCm39)	M246V	probably damaging	Het
Btc	A	T	5: 91,524,779 (GRCm39)	C53S	possibly damaging	Het
Cdhr5	T	C	7: 140,856,437 (GRCm39)	I39M	probably damaging	Het
Cdkn3	T	A	14: 47,004,807 (GRCm39)	M123K	possibly damaging	Het
Cebpz	A	G	17: 79,233,542 (GRCm39)	Y762H	possibly damaging	Het
Ces1g	T	A	8: 94,063,821 (GRCm39)		probably benign	Het
Cfap44	T	C	16: 44,236,763 (GRCm39)		probably null	Het
Chd7	G	T	4: 8,844,417 (GRCm39)	G1537W	probably damaging	Het
Clec3a	C	A	8: 115,149,712 (GRCm39)	N56K	probably damaging	Het
Col11a1	T	A	3: 114,002,011 (GRCm39)		probably null	Het
Cox20	G	A	1: 178,149,598 (GRCm39)		probably benign	Het
Cyp2d22	A	G	15: 82,255,839 (GRCm39)	V471A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,135,163 (GRCm39)	V1339A	probably damaging	Het
Duox2	T	C	2: 122,112,352 (GRCm39)	D1278G	probably benign	Het
Epc1	G	A	18: 6,450,614 (GRCm39)	P284L	probably benign	Het
Evi5l	G	T	8: 4,235,990 (GRCm39)	R61L	possibly damaging	Het
Fbln2	T	C	6: 91,243,365 (GRCm39)	Y914H	probably damaging	Het
Fbxo44	A	G	4: 148,238,030 (GRCm39)	S191P	probably damaging	Het
Fign	A	G	2: 63,809,569 (GRCm39)	I567T	probably benign	Het
Fryl	C	T	5: 73,262,117 (GRCm39)	R550K	probably damaging	Het
Gpcpd1	G	A	2: 132,400,597 (GRCm39)		probably benign	Het
Hectd4	T	C	5: 121,481,739 (GRCm39)	I3096T	probably benign	Het
Hic2	T	A	16: 17,075,712 (GRCm39)	D180E	probably benign	Het
Ibtk	A	G	9: 85,617,057 (GRCm39)	F172L	possibly damaging	Het
Itga1	A	G	13: 115,138,845 (GRCm39)	S369P	possibly damaging	Het
Itgb4	G	A	11: 115,880,575 (GRCm39)	R675Q	probably null	Het
Lrrc3b	T	C	14: 15,358,591 (GRCm38)	D5G	probably damaging	Het
Maml3	T	A	3: 52,011,146 (GRCm39)	D140V	probably damaging	Het
Med21	A	G	6: 146,550,683 (GRCm39)	T65A	probably benign	Het
Mta1	T	C	12: 113,095,186 (GRCm39)		probably benign	Het
Mybpc1	T	C	10: 88,406,430 (GRCm39)	D152G	probably damaging	Het
Oas1b	C	A	5: 120,960,269 (GRCm39)	Q325K	probably benign	Het
Or10j27	A	G	1: 172,958,673 (GRCm39)	L37P	probably benign	Het
Or2n1c	C	A	17: 38,519,995 (GRCm39)	N286K	probably damaging	Het
Or5d44	A	C	2: 88,141,334 (GRCm39)	C269G	probably benign	Het
Pclo	A	G	5: 14,726,626 (GRCm39)		probably benign	Het
Phactr2	C	T	10: 13,129,360 (GRCm39)	V233I	possibly damaging	Het
Plekha2	A	T	8: 25,533,063 (GRCm39)		probably null	Het
Reg3b	A	G	6: 78,349,843 (GRCm39)	M128V	probably benign	Het
Rnaseh2a	A	G	8: 85,684,735 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,363,073 (GRCm39)	S516G	probably benign	Het
Serpina12	T	A	12: 104,001,807 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,000,540 (GRCm39)	T320A	possibly damaging	Het
Slc26a7	A	T	4: 14,519,402 (GRCm39)	D539E	probably benign	Het
Specc1l	C	A	10: 75,082,007 (GRCm39)	R485S	possibly damaging	Het
Srp54b	T	G	12: 55,302,366 (GRCm39)	I339S	probably damaging	Het
Tada1	G	A	1: 166,207,081 (GRCm39)		probably benign	Het
Trim16	T	C	11: 62,711,751 (GRCm39)	C54R	probably damaging	Het
Trio	C	T	15: 27,735,618 (GRCm39)	R2824Q	probably benign	Het
Ttpa	A	G	4: 20,021,245 (GRCm39)	I138V	probably damaging	Het
Ubap2	A	C	4: 41,251,578 (GRCm39)	M18R	possibly damaging	Het
Usp38	A	G	8: 81,712,392 (GRCm39)	S548P	possibly damaging	Het
Vmn2r73	T	C	7: 85,525,046 (GRCm39)	D34G	probably benign	Het
Vps13d	T	A	4: 144,904,904 (GRCm39)	H74L	probably damaging	Het
Zfp408	C	T	2: 91,475,588 (GRCm39)	C622Y	probably benign	Het
Zfp616	T	C	11: 73,975,321 (GRCm39)	I530T	possibly damaging	Het
Zfp9	C	A	6: 118,442,140 (GRCm39)	C174F	probably damaging	Het
Zfyve16	A	G	13: 92,658,096 (GRCm39)	I605T	possibly damaging	Het
Zmym5	T	C	14: 57,031,519 (GRCm39)	T530A	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
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
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'- AGGTCTCCTGAGGTTTGTCC -3'
(R):5'- CAGGTGGTTGAATTCTGTAACG -3'

Sequencing Primer
(F):5'- AGGTTTGTCCTACCTCTTTCTCAAG -3'
(R):5'- GAAAGTACACACAACCAAGAAGCTC -3'

Posted On

2016-08-04