Mutagenetix > Incidental Mutation

Incidental Mutation 'R5656:Clca3a2'

442308

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

043302-MU

Accession Numbers

Essential gene?

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

Stock #

R5656 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144502320-144525255 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144503393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 852 (N852K)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000199029]

AlphaFold

Q9EQR4

Predicted Effect

probably benign
Transcript: ENSMUST00000029929
AA Change: N852K

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: N852K

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

probably benign
Transcript: ENSMUST00000197013

Predicted Effect

probably benign
Transcript: ENSMUST00000199029

SMART Domains

Protein: ENSMUSP00000143543
Gene: ENSMUSG00000028262

Domain	Start	End	E-Value	Type
Pfam:CLCA	1	188	6.5e-77	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,144 (GRCm39)	S139G	probably benign	Het
Adrb3	T	C	8: 27,717,405 (GRCm39)	D348G	probably damaging	Het
Atg2b	A	G	12: 105,587,587 (GRCm39)	V1959A	probably benign	Het
Bicral	G	A	17: 47,119,295 (GRCm39)	T742M	probably damaging	Het
Bub1b	T	A	2: 118,435,912 (GRCm39)	I60N	probably damaging	Het
Ccdc162	A	G	10: 41,445,930 (GRCm39)	V414A	probably benign	Het
Cd22	T	G	7: 30,569,198 (GRCm39)	Y612S	probably damaging	Het
Cd68	T	A	11: 69,555,247 (GRCm39)	I320F	probably damaging	Het
Cpa6	T	A	1: 10,399,739 (GRCm39)	H363L	probably benign	Het
Ddx18	A	T	1: 121,489,087 (GRCm39)	L320Q	probably damaging	Het
Dnah5	A	G	15: 28,421,210 (GRCm39)	D3849G	probably benign	Het
Eci1	T	A	17: 24,656,283 (GRCm39)	N164K	probably damaging	Het
Efs	T	C	14: 55,154,584 (GRCm39)	T552A	probably damaging	Het
Fbp1	C	A	13: 63,023,010 (GRCm39)	V96L	probably damaging	Het
Gtf3c1	T	A	7: 125,261,826 (GRCm39)	N1139I	probably benign	Het
Gucy1b2	T	C	14: 62,660,430 (GRCm39)	Y152C	probably damaging	Het
Gxylt1	A	T	15: 93,143,542 (GRCm39)	L362Q	probably damaging	Het
Iqcd	A	G	5: 120,743,191 (GRCm39)		probably null	Het
Klhl41	T	A	2: 69,513,876 (GRCm39)	I585N	possibly damaging	Het
Map6	A	G	7: 98,985,505 (GRCm39)	K470E	probably damaging	Het
Mast3	T	C	8: 71,238,865 (GRCm39)	T496A	probably damaging	Het
Mbd6	A	T	10: 127,121,155 (GRCm39)		probably benign	Het
Melk	A	G	4: 44,312,237 (GRCm39)	K183R	possibly damaging	Het
Mta1	T	C	12: 113,086,759 (GRCm39)	V152A	probably damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Nav3	A	C	10: 109,600,494 (GRCm39)	S1378A	probably damaging	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Nlrp4f	G	A	13: 65,338,685 (GRCm39)	R651*	probably null	Het
Or1e1f	T	A	11: 73,855,536 (GRCm39)	M34K	probably damaging	Het
Or5b121	A	G	19: 13,507,744 (GRCm39)	T280A	probably benign	Het
Or5p72	A	G	7: 108,021,825 (GRCm39)	I16V	probably benign	Het
P2rx7	A	T	5: 122,811,780 (GRCm39)	R364W	probably damaging	Het
Phactr2	T	C	10: 13,264,447 (GRCm39)	D2G	probably benign	Het
Phc3	G	T	3: 31,020,015 (GRCm39)	S28R	probably damaging	Het
Ppfia1	A	T	7: 144,073,711 (GRCm39)		probably null	Het
Prdm10	C	T	9: 31,264,713 (GRCm39)	T667M	probably benign	Het
Pwwp2b	T	A	7: 138,835,887 (GRCm39)	S443T	possibly damaging	Het
Pzp	T	C	6: 128,467,035 (GRCm39)	T1113A	probably damaging	Het
Rapgef6	A	G	11: 54,526,962 (GRCm39)	E551G	possibly damaging	Het
Sec23ip	A	G	7: 128,378,508 (GRCm39)	Y774C	probably damaging	Het
Setdb2	T	C	14: 59,656,567 (GRCm39)	D266G	probably damaging	Het
Shank1	T	C	7: 44,002,310 (GRCm39)	V1343A	probably benign	Het
Slf2	T	A	19: 44,961,674 (GRCm39)	D1064E	probably benign	Het
Slu7	A	G	11: 43,334,245 (GRCm39)	K424E	probably benign	Het
Smg1	A	T	7: 117,753,887 (GRCm39)		probably benign	Het
Sptlc2	A	T	12: 87,393,535 (GRCm39)	L264Q	probably damaging	Het
Sra1	A	G	18: 36,811,460 (GRCm39)	S93P	probably damaging	Het
Sult1c2	T	C	17: 54,271,680 (GRCm39)	E169G	probably benign	Het
Sv2a	A	G	3: 96,092,888 (GRCm39)	D196G	probably damaging	Het
Tbc1d22b	A	G	17: 29,813,754 (GRCm39)	I362M	probably damaging	Het
Tenm3	T	C	8: 48,681,797 (GRCm39)	D2611G	probably damaging	Het
Tmem43	T	C	6: 91,457,690 (GRCm39)	F191L	probably benign	Het
Trbv13-2	T	A	6: 41,098,628 (GRCm39)	Y68N	probably benign	Het
Ttn	T	G	2: 76,604,998 (GRCm39)	D18312A	possibly damaging	Het
Ublcp1	A	G	11: 44,356,433 (GRCm39)	V95A	probably damaging	Het
Usp17ld	A	G	7: 102,900,047 (GRCm39)	V295A	probably damaging	Het
Vmn1r29	T	A	6: 58,285,152 (GRCm39)	L291M	possibly damaging	Het
Vsig10l	C	T	7: 43,113,575 (GRCm39)	R176*	probably null	Het
Zbtb46	A	G	2: 181,065,210 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,785,848 (GRCm39)	V233A	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
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
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'- AGGCAGCCTTTGAGTGTAGTAAAG -3'
(R):5'- CATCAGAGTGAGCCAGCATC -3'

Sequencing Primer
(F):5'- CAGTCAGCAAATATATACAGGGTTGC -3'
(R):5'- ATCCTCTGGGTCTCCAAGAAG -3'

Posted On

2016-11-09