Mutagenetix > Incidental Mutation

Incidental Mutation 'R0244:Clca3a2'

37951

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

038482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R0244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144502320-144525255 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 144519659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 238 (M238I)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029929
AA Change: M238I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: M238I

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

noncoding transcript
Transcript: ENSMUST00000198543

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (88/89)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,806,172 (GRCm39)	C434*	probably null	Het
Adprhl1	A	G	8: 13,292,391 (GRCm39)		probably benign	Het
Ago1	T	A	4: 126,357,499 (GRCm39)	I59F	possibly damaging	Het
Arel1	T	C	12: 84,967,467 (GRCm39)	T786A	probably damaging	Het
Arhgap26	A	G	18: 39,496,184 (GRCm39)	K117R	probably benign	Het
Atp6v0b	C	T	4: 117,741,819 (GRCm39)	G204D	probably damaging	Het
Bace2	T	A	16: 97,237,973 (GRCm39)		probably null	Het
Bltp2	T	A	11: 78,177,317 (GRCm39)		probably null	Het
Camk4	G	A	18: 33,312,678 (GRCm39)		probably null	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cep152	T	C	2: 125,406,134 (GRCm39)	E1466G	probably benign	Het
Ces3b	T	C	8: 105,819,267 (GRCm39)	F441S	probably damaging	Het
Cfap52	T	C	11: 67,817,208 (GRCm39)	T562A	possibly damaging	Het
Cntnap5c	A	T	17: 58,409,163 (GRCm39)	D467V	probably damaging	Het
Col7a1	T	A	9: 108,801,252 (GRCm39)		probably null	Het
Cstf1	A	G	2: 172,219,630 (GRCm39)	N247S	possibly damaging	Het
Dffb	G	T	4: 154,059,072 (GRCm39)	N68K	probably benign	Het
Dnaaf10	T	C	11: 17,179,851 (GRCm39)	L284P	probably damaging	Het
Duox2	C	T	2: 122,122,341 (GRCm39)	G595S	probably benign	Het
Eftud2	T	A	11: 102,755,551 (GRCm39)	I228F	probably damaging	Het
Elmo3	T	C	8: 106,035,803 (GRCm39)	V578A	probably benign	Het
Elp2	A	G	18: 24,764,528 (GRCm39)	D625G	possibly damaging	Het
Ep300	C	T	15: 81,524,329 (GRCm39)	P1386S	unknown	Het
Fam120b	A	G	17: 15,637,899 (GRCm39)	D610G	probably damaging	Het
Fastk	A	T	5: 24,647,176 (GRCm39)		probably benign	Het
Fbxl6	A	G	15: 76,421,391 (GRCm39)	S252P	probably damaging	Het
Fbxo43	T	C	15: 36,161,939 (GRCm39)	K423E	probably damaging	Het
Filip1	T	A	9: 79,726,744 (GRCm39)	E625V	possibly damaging	Het
Fkbp9	T	A	6: 56,833,363 (GRCm39)	Y283*	probably null	Het
Gigyf2	T	A	1: 87,306,737 (GRCm39)	D142E	possibly damaging	Het
Gm10142	T	C	10: 77,551,848 (GRCm39)		probably null	Het
Golga5	T	C	12: 102,442,447 (GRCm39)	V262A	probably benign	Het
Hectd4	T	C	5: 121,467,668 (GRCm39)	V2539A	probably benign	Het
Ica1	G	T	6: 8,653,632 (GRCm39)	S335*	probably null	Het
Itga1	A	T	13: 115,143,433 (GRCm39)		probably benign	Het
Itgb1	T	C	8: 129,444,166 (GRCm39)		probably benign	Het
Itpr1	G	A	6: 108,450,550 (GRCm39)	V1960I	probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kprp	C	T	3: 92,732,718 (GRCm39)	V111I	probably benign	Het
Lamc3	T	C	2: 31,830,733 (GRCm39)	I1490T	probably damaging	Het
Lcp1	A	T	14: 75,464,441 (GRCm39)	D554V	possibly damaging	Het
Lgi3	A	G	14: 70,772,138 (GRCm39)	T228A	probably benign	Het
Lipa	A	T	19: 34,478,941 (GRCm39)	F260I	probably damaging	Het
Lrriq1	C	T	10: 103,051,634 (GRCm39)	E373K	probably damaging	Het
Map6	G	A	7: 98,986,043 (GRCm39)	G649D	probably benign	Het
Mccc1	A	G	3: 36,044,196 (GRCm39)		probably null	Het
Mical3	A	T	6: 120,934,683 (GRCm39)	S1799T	probably benign	Het
Mmp23	T	A	4: 155,736,589 (GRCm39)	T151S	probably damaging	Het
Myo1d	T	A	11: 80,565,534 (GRCm39)	N401I	probably damaging	Het
Myo9b	T	A	8: 71,774,457 (GRCm39)	S323T	probably damaging	Het
Nbn	G	T	4: 15,979,353 (GRCm39)	W446L	probably benign	Het
Nedd1	A	T	10: 92,552,127 (GRCm39)		probably benign	Het
Ngef	C	A	1: 87,415,684 (GRCm39)		probably benign	Het
Nup153	A	T	13: 46,847,412 (GRCm39)	N672K	probably benign	Het
Or10d1b	T	A	9: 39,613,469 (GRCm39)	I199F	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or4e2	T	C	14: 52,687,969 (GRCm39)	V33A	probably benign	Het
Or4f57	T	C	2: 111,791,361 (GRCm39)	N19S	probably benign	Het
Pakap	T	G	4: 57,710,177 (GRCm39)	V374G	possibly damaging	Het
Pdlim3	C	A	8: 46,361,497 (GRCm39)		probably benign	Het
Pmfbp1	G	A	8: 110,268,305 (GRCm39)	E951K	probably damaging	Het
Pop1	T	A	15: 34,516,037 (GRCm39)	C548*	probably null	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Ptpdc1	A	T	13: 48,739,456 (GRCm39)	N658K	probably benign	Het
Ptprk	A	C	10: 28,082,221 (GRCm39)	E63D	possibly damaging	Het
Rtf1	C	T	2: 119,563,358 (GRCm39)	R712W	probably damaging	Het
Samd7	A	C	3: 30,805,222 (GRCm39)	T2P	probably benign	Het
Sft2d1	A	G	17: 8,538,254 (GRCm39)	T52A	probably benign	Het
Slc25a26	A	G	6: 94,487,814 (GRCm39)	H91R	probably damaging	Het
Slc5a4a	A	G	10: 76,024,986 (GRCm39)	E621G	possibly damaging	Het
Slf1	A	T	13: 77,274,751 (GRCm39)	L28*	probably null	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Sorcs2	G	A	5: 36,554,897 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,353,555 (GRCm39)		probably benign	Het
Tas2r140	A	G	6: 133,032,290 (GRCm39)	V156A	possibly damaging	Het
Terf2ip	C	A	8: 112,744,796 (GRCm39)	T371K	possibly damaging	Het
Tifa	C	T	3: 127,590,537 (GRCm39)	L103F	probably damaging	Het
Tmco3	A	G	8: 13,342,037 (GRCm39)	N104D	probably damaging	Het
Tmem259	T	A	10: 79,814,797 (GRCm39)	D240V	probably damaging	Het
Trim60	C	T	8: 65,453,700 (GRCm39)	R183H	probably benign	Het
Trps1	T	C	15: 50,528,139 (GRCm39)	N725D	probably damaging	Het
Ttn	C	T	2: 76,645,150 (GRCm39)	V12902M	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Unc79	A	G	12: 103,079,150 (GRCm39)	K1772E	probably damaging	Het
Vwde	C	T	6: 13,193,125 (GRCm39)	V405I	probably benign	Het
Wdr18	T	A	10: 79,802,242 (GRCm39)	D290E	probably damaging	Het
Wwc2	G	A	8: 48,353,756 (GRCm39)	A126V	probably benign	Het
Zfp882	A	T	8: 72,667,367 (GRCm39)	I105F	possibly damaging	Het
Zfp942	A	T	17: 22,147,553 (GRCm39)	C359S	probably benign	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
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
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'- CAGCAGACGCCTTGATTACATCCC -3'
(R):5'- TTTTATCATAGGTGCTCCGCCAGC -3'

Sequencing Primer
(F):5'- TTCTGTGCAAAATTCAACCACCTG -3'
(R):5'- TCCGCCAGCATCACAGG -3'

Posted On

2013-05-23