Mutagenetix > Incidental Mutation

Incidental Mutation 'R6593:Clca3a2'

523461

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6593 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 144808577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably null
Transcript: ENSMUST00000029929

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262

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 null
Transcript: ENSMUST00000197013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198543

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: 99.8%
3x: 99.2%
10x: 96.6%
20x: 89.6%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,853,491	N1047K	probably benign	Het
AI597479	C	A	1: 43,111,248	Q173K	probably damaging	Het
Arhgef10	T	C	8: 14,962,522	L282P	probably damaging	Het
Arhgef10	T	C	8: 14,962,564	I296T	possibly damaging	Het
Atg2b	A	G	12: 105,644,848	S1275P	probably damaging	Het
Ccdc114	T	A	7: 45,947,384	D378E	probably damaging	Het
Cep290	T	C	10: 100,508,776	M485T	probably benign	Het
Clcn6	C	T	4: 148,010,769	S731N	probably benign	Het
Clic6	A	G	16: 92,528,117	I388V	possibly damaging	Het
Cpsf4l	G	T	11: 113,709,366		probably benign	Het
Ddx58	T	C	4: 40,226,651	I169V	probably benign	Het
Dlg5	G	A	14: 24,150,652	H1350Y	probably benign	Het
Dnase2b	T	C	3: 146,586,911	Y169C	probably damaging	Het
Elavl3	C	T	9: 22,018,547	V354M	possibly damaging	Het
Farp2	A	C	1: 93,569,940	I231L	possibly damaging	Het
Gcc2	T	A	10: 58,271,507	M755K	probably damaging	Het
Gpr88	T	C	3: 116,252,624	T13A	unknown	Het
Gstm3	T	A	3: 107,968,195	N40Y	probably benign	Het
Krtap5-2	A	T	7: 142,174,960	C328S	unknown	Het
Lpar1	A	T	4: 58,486,605	V222E	probably damaging	Het
Neto2	A	G	8: 85,669,546	S192P	probably damaging	Het
Olfr665	C	T	7: 104,881,433	T242I	probably damaging	Het
Pcdhgb1	G	T	18: 37,682,081	D542Y	probably damaging	Het
Phldb2	G	A	16: 45,825,427	Q264*	probably null	Het
Ptgs2	G	A	1: 150,101,033	D6N	possibly damaging	Het
Rasef	G	T	4: 73,745,090	H167N	probably damaging	Het
Rbbp4	A	G	4: 129,322,375	L193S	probably damaging	Het
Sec24d	T	C	3: 123,353,412	F673S	probably damaging	Het
Slc9b1	T	C	3: 135,357,458	M1T	probably null	Het
Stra6	A	G	9: 58,151,979	T542A	probably benign	Het
Stt3b	T	C	9: 115,252,511	Y569C	probably damaging	Het
Traf3ip1	A	G	1: 91,527,695	K626R	possibly damaging	Het
Washc2	T	A	6: 116,259,249	I1227N	probably damaging	Het
Xpo7	G	A	14: 70,682,362	A671V	probably damaging	Het
Zfp799	A	G	17: 32,819,790	Y501H	probably damaging	Het

Other mutations in Clca3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Clca3a2	APN	3	144813627	nonsense	probably null
IGL01663:Clca3a2	APN	3	144817155	missense	probably damaging	0.97
IGL01779:Clca3a2	APN	3	144819378	missense	possibly damaging	0.47
IGL02066:Clca3a2	APN	3	144813455	missense	probably benign
IGL02301:Clca3a2	APN	3	144806372	missense	probably damaging	0.98
IGL02619:Clca3a2	APN	3	144806322	missense	probably damaging	1.00
IGL02852:Clca3a2	APN	3	144806343	missense	probably damaging	0.98
IGL02901:Clca3a2	APN	3	144816768	missense	probably damaging	1.00
IGL03162:Clca3a2	APN	3	144806416	missense	probably damaging	1.00
R0032:Clca3a2	UTSW	3	144816733	missense	probably benign	0.01
R0244:Clca3a2	UTSW	3	144813898	missense	possibly damaging	0.90
R1249:Clca3a2	UTSW	3	144803004	missense	possibly damaging	0.80
R1370:Clca3a2	UTSW	3	144813863	splice site	probably benign
R1586:Clca3a2	UTSW	3	144810716	missense	possibly damaging	0.94
R1776:Clca3a2	UTSW	3	144813920	missense	probably damaging	1.00
R1797:Clca3a2	UTSW	3	144797637	missense	probably benign	0.01
R1869:Clca3a2	UTSW	3	144806403	missense	probably benign	0.44
R1871:Clca3a2	UTSW	3	144797637	missense	probably benign	0.01
R1919:Clca3a2	UTSW	3	144810696	missense	probably benign
R1923:Clca3a2	UTSW	3	144805730	missense	probably damaging	1.00
R2200:Clca3a2	UTSW	3	144813924	missense	probably benign	0.10
R2324:Clca3a2	UTSW	3	144806280	critical splice donor site	probably null
R2937:Clca3a2	UTSW	3	144813918	missense	probably benign	0.06
R3429:Clca3a2	UTSW	3	144806327	missense	probably benign	0.07
R3434:Clca3a2	UTSW	3	144808761	unclassified	probably benign
R3551:Clca3a2	UTSW	3	144803081	missense	probably damaging	1.00
R3952:Clca3a2	UTSW	3	144803061	missense	probably damaging	1.00
R4120:Clca3a2	UTSW	3	144810852	missense	probably benign	0.25
R4383:Clca3a2	UTSW	3	144806320	missense	probably benign	0.02
R4518:Clca3a2	UTSW	3	144808705	missense	probably damaging	1.00
R4598:Clca3a2	UTSW	3	144805683	missense	probably damaging	1.00
R4801:Clca3a2	UTSW	3	144807351	missense	possibly damaging	0.95
R4802:Clca3a2	UTSW	3	144807351	missense	possibly damaging	0.95
R4816:Clca3a2	UTSW	3	144810852	missense	probably benign	0.25
R4934:Clca3a2	UTSW	3	144817931	missense	probably damaging	1.00
R4942:Clca3a2	UTSW	3	144806502	missense	probably damaging	1.00
R5123:Clca3a2	UTSW	3	144806343	missense	probably damaging	1.00
R5156:Clca3a2	UTSW	3	144805838	missense	probably benign	0.26
R5275:Clca3a2	UTSW	3	144813579	missense	probably damaging	1.00
R5372:Clca3a2	UTSW	3	144797525	missense	probably benign	0.00
R5656:Clca3a2	UTSW	3	144797632	missense	probably benign	0.26
R6059:Clca3a2	UTSW	3	144810770	missense	probably damaging	1.00
R6155:Clca3a2	UTSW	3	144819357	missense	probably damaging	0.99
R6254:Clca3a2	UTSW	3	144802134	missense	probably benign
R6336:Clca3a2	UTSW	3	144806478	missense	probably benign
R6470:Clca3a2	UTSW	3	144804263	splice site	probably null
R6631:Clca3a2	UTSW	3	144813644	missense	probably benign
R6826:Clca3a2	UTSW	3	144818054	missense	possibly damaging	0.46
R6836:Clca3a2	UTSW	3	144806383	missense	probably damaging	0.97
R6896:Clca3a2	UTSW	3	144808701	missense	probably damaging	1.00
R7211:Clca3a2	UTSW	3	144814014	missense	probably benign	0.00
R7324:Clca3a2	UTSW	3	144808611	missense	probably damaging	0.99
R7411:Clca3a2	UTSW	3	144802099	missense	probably damaging	1.00
R7486:Clca3a2	UTSW	3	144797601	missense	probably damaging	1.00
R7491:Clca3a2	UTSW	3	144813579	missense	probably damaging	1.00
R7521:Clca3a2	UTSW	3	144801913	makesense	probably null
R7889:Clca3a2	UTSW	3	144810813	nonsense	probably null
R7946:Clca3a2	UTSW	3	144807314	critical splice donor site	probably null
R7991:Clca3a2	UTSW	3	144813995	missense	probably benign	0.00
R8022:Clca3a2	UTSW	3	144805766	missense	probably damaging	1.00
R8344:Clca3a2	UTSW	3	144805942	critical splice acceptor site	probably null
R8367:Clca3a2	UTSW	3	144817747	splice site	probably null
R8371:Clca3a2	UTSW	3	144807353	nonsense	probably null
R8814:Clca3a2	UTSW	3	144797764	missense	probably benign	0.18
R9031:Clca3a2	UTSW	3	144805714	missense	probably damaging	1.00
R9201:Clca3a2	UTSW	3	144813923	missense	probably benign	0.00
R9261:Clca3a2	UTSW	3	144819397	missense	probably benign
R9469:Clca3a2	UTSW	3	144802177	missense	probably damaging	1.00
R9515:Clca3a2	UTSW	3	144803047	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTATTTGCGTAACCATGGAGAC -3'
(R):5'- TCCAGTGACCAGAGCACTTC -3'

Sequencing Primer
(F):5'- CAGAGCATCTGTTTAGTGCAATG -3'
(R):5'- AGAGCACTTCCGGTTCTGAGATC -3'

Posted On

2018-06-22