Mutagenetix > Incidental Mutation

Incidental Mutation 'R4598:Clca3a2'

345340

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

041814-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R4598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144805683 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 41 (N41K)

Ref Sequence

ENSEMBL: ENSMUSP00000143543 (fasta)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029929
AA Change: N650K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: N650K

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

unknown
Transcript: ENSMUST00000197013
AA Change: N210K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198543

Predicted Effect

probably damaging
Transcript: ENSMUST00000199029
AA Change: N41K

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

SMART Domains

Protein: ENSMUSP00000143543
Gene: ENSMUSG00000028262
AA Change: N41K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 11,747,964		probably null	Het
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Abcb7	A	C	X: 104,323,382	D135E	probably benign	Het
Ace	T	A	11: 105,981,759		probably null	Het
Acnat1	T	C	4: 49,450,781	D110G	probably benign	Het
Ak9	C	T	10: 41,383,911	P862S	probably damaging	Het
Atp1a3	A	G	7: 24,979,341	S972P	probably damaging	Het
Bmf	C	A	2: 118,549,128	A56S	probably benign	Het
C6	T	C	15: 4,763,370	L319P	possibly damaging	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cdc14b	T	C	13: 64,247,274	T69A	probably benign	Het
Cep162	A	G	9: 87,203,795	Y1159H	possibly damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Cyp3a57	A	G	5: 145,390,417	I473V	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dhx9	TCC	TC	1: 153,467,051		probably null	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Eif4e3	T	A	6: 99,640,710	I67L	probably benign	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Esp31	T	A	17: 38,641,121		probably null	Het
Esrp2	A	G	8: 106,132,711	M498T	probably damaging	Het
F5	T	C	1: 164,204,797	I1771T	probably benign	Het
Fancd2	C	A	6: 113,585,477	H1259Q	probably benign	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Kat2b	A	G	17: 53,670,798	Y791C	probably benign	Het
Kazn	A	G	4: 142,210,092	V108A	possibly damaging	Het
Kcnma1	T	C	14: 23,803,160	T109A	probably damaging	Het
Med13	T	C	11: 86,278,566	T1955A	probably damaging	Het
Megf10	A	T	18: 57,287,812	S841C	probably damaging	Het
Megf10	G	A	18: 57,189,603		probably null	Het
Mep1a	A	G	17: 43,491,578		probably null	Het
Mrap2	A	T	9: 87,182,789	E194D	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrip1	A	G	16: 76,293,080	F530L	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr1504	A	T	19: 13,888,017	H64Q	probably damaging	Het
Olfr676	A	C	7: 105,036,073	I292L	probably benign	Het
Olfr812	T	C	10: 129,842,995	T16A	possibly damaging	Het
Oxtr	C	T	6: 112,489,752	G16R	probably benign	Het
Pdgfrb	A	T	18: 61,068,757	K464N	probably benign	Het
Pja2	A	T	17: 64,313,030	M1K	probably null	Het
Pkhd1	A	T	1: 20,503,056	N1875K	probably damaging	Het
Pogz	T	C	3: 94,880,180	S1360P	possibly damaging	Het
Proc	A	T	18: 32,123,459	L385Q	probably damaging	Het
Ptprm	A	G	17: 67,095,497	I132T	probably benign	Het
Rpgr	A	G	X: 10,196,016	S343P	probably benign	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Scyl1	A	G	19: 5,770,453	S118P	probably damaging	Het
Sec61a1	T	C	6: 88,506,149	N414D	probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Sema7a	A	G	9: 57,953,551	D65G	probably benign	Het
Slc25a45	A	G	19: 5,884,436	Y144C	probably damaging	Het
Slc26a6	A	G	9: 108,856,380	Y103C	probably damaging	Het
Stat3	C	T	11: 100,903,674	D270N	probably damaging	Het
Taar8b	T	C	10: 24,091,838	S153G	probably benign	Het
Top1	A	G	2: 160,720,965	E697G	possibly damaging	Het
Trappc11	G	A	8: 47,513,766	T470I	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Usp29	A	G	7: 6,962,480	T441A	probably benign	Het
Vmn2r110	A	T	17: 20,583,767	L182*	probably null	Het
Zgrf1	T	C	3: 127,601,030	I1345T	probably benign	Het
Zscan25	G	T	5: 145,291,005	R493L	probably benign	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
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
R6593:Clca3a2	UTSW	3	144808577	critical splice donor 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
R9069:Clca3a2	UTSW	3	144813686	splice site	probably benign
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
R9569:Clca3a2	UTSW	3	144807314	critical splice donor site	probably null
R9664:Clca3a2	UTSW	3	144797814	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTACCTCATGTTCCATGG -3'
(R):5'- ATGGAACCACTCCTGGCTAC -3'

Sequencing Primer
(F):5'- CATGTTCCATGGGAAGCATG -3'
(R):5'- GCTACCGCTCACATGAGTCAGAG -3'

Posted On

2015-09-25