Mutagenetix > Incidental Mutation

Incidental Mutation 'R1869:Clca3a2'

210504

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

039891-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R1869 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144806403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 524 (T524M)

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: T524M

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: T524M

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: T84M

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: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	A	G	11: 3,890,067	L110P	probably damaging	Het
6030458C11Rik	T	C	15: 12,817,907	D168G	probably damaging	Het
Abca13	A	T	11: 9,292,134	E1332D	probably benign	Het
Abhd11	A	G	5: 135,011,617	Y168C	probably damaging	Het
Actr5	A	C	2: 158,638,723	T554P	probably damaging	Het
Adamts16	A	G	13: 70,735,747	L1103P	probably damaging	Het
Adgrb3	A	T	1: 25,826,438	I108K	possibly damaging	Het
Agbl4	T	A	4: 111,566,629	M284K	possibly damaging	Het
Aoc3	T	A	11: 101,331,467	Y176*	probably null	Het
Aox1	A	G	1: 58,076,103	E749G	probably damaging	Het
Ap4b1	T	A	3: 103,820,868	Y399*	probably null	Het
Arhgef5	A	T	6: 43,288,682	I1553F	probably damaging	Het
Bag6	T	C	17: 35,142,826	V541A	probably benign	Het
Bdp1	A	C	13: 100,042,201	V1879G	probably damaging	Het
Bod1l	G	A	5: 41,833,675	S179F	possibly damaging	Het
Bsnd	C	T	4: 106,486,636	V158I	probably benign	Het
Cachd1	C	A	4: 100,983,390	H880N	probably damaging	Het
Ccdc27	T	C	4: 154,026,763		probably null	Het
Cd74	C	T	18: 60,810,412	P190S	probably benign	Het
Cep68	A	T	11: 20,240,217	L265Q	probably damaging	Het
Cfap70	G	A	14: 20,408,610	Q772*	probably null	Het
CK137956	T	A	4: 127,970,534	S101C	possibly damaging	Het
Cxcr6	T	C	9: 123,809,957	S15P	probably benign	Het
Cyfip2	T	A	11: 46,224,168	Y904F	probably benign	Het
D130040H23Rik	T	A	8: 69,302,702	I253N	probably benign	Het
Ddx56	C	T	11: 6,263,993	V389M	possibly damaging	Het
Dmp1	A	T	5: 104,212,076	D206V	probably damaging	Het
Dnah17	A	T	11: 118,047,189	C3350*	probably null	Het
Dpcr1	A	G	17: 35,638,413	L98P	possibly damaging	Het
Dst	A	T	1: 34,252,832	S877C	probably damaging	Het
Ermp1	A	G	19: 29,646,015	S192P	possibly damaging	Het
F13b	G	A	1: 139,510,934	D359N	probably benign	Het
Fam171a1	A	T	2: 3,226,152	Q769L	possibly damaging	Het
Fap	T	C	2: 62,528,727	R411G	probably damaging	Het
Fbn1	A	G	2: 125,352,027	V1340A	probably benign	Het
Fbxw19	T	C	9: 109,482,032	I370V	probably benign	Het
Foxi1	A	T	11: 34,207,937	N29K	possibly damaging	Het
Frem2	T	G	3: 53,535,196	D2640A	probably benign	Het
Fzd4	T	C	7: 89,407,246	V167A	probably benign	Het
Galnt3	T	C	2: 66,097,779	I258V	possibly damaging	Het
Galr2	T	C	11: 116,283,243	V233A	possibly damaging	Het
Gldc	G	T	19: 30,139,332	Q407K	probably benign	Het
Gm5346	A	T	8: 43,625,095	Y697*	probably null	Het
Gmcl1	T	C	6: 86,697,516	D460G	probably benign	Het
Gpr89	A	G	3: 96,875,659	I325T	probably benign	Het
Grap	T	A	11: 61,664,189	Y61N	possibly damaging	Het
Hbs1l	G	T	10: 21,358,406		probably null	Het
Hexb	T	A	13: 97,191,259	E134D	probably benign	Het
Hydin	T	A	8: 110,500,705	V1507D	possibly damaging	Het
Igkv8-16	C	A	6: 70,386,987	G17V	probably benign	Het
Kdm4a	T	A	4: 118,138,871	Q987L	probably null	Het
Krt76	A	G	15: 101,889,487		probably null	Het
Lap3	T	C	5: 45,503,387	S238P	probably benign	Het
Letm2	T	C	8: 25,581,713	D391G	probably damaging	Het
Lipn	A	G	19: 34,080,739	T287A	possibly damaging	Het
Macf1	T	C	4: 123,351,128	S466G	probably damaging	Het
Map3k5	C	A	10: 20,132,109	S1220*	probably null	Het
Map4	T	C	9: 110,034,964	V419A	probably benign	Het
Map4	T	A	9: 110,068,928	S754R	possibly damaging	Het
Mroh9	A	G	1: 163,026,513	S773P	probably damaging	Het
Mtus1	A	C	8: 41,076,230		probably null	Het
Muc1	C	T	3: 89,231,810	P533S	probably damaging	Het
Muc13	A	T	16: 33,804,600	I282F	probably damaging	Het
Myh14	T	A	7: 44,611,643	Q1816L	possibly damaging	Het
Nalcn	A	C	14: 123,594,553	V103G	possibly damaging	Het
Nlrp9c	G	A	7: 26,384,820	Q445*	probably null	Het
Olfml2b	A	G	1: 170,669,243	D481G	probably damaging	Het
Olfr1000	A	G	2: 85,608,500	S137P	probably benign	Het
Olfr1087	T	A	2: 86,690,391	I195F	probably damaging	Het
Olfr309	T	A	7: 86,306,667	I149F	possibly damaging	Het
Olfr703	T	G	7: 106,845,094	I161S	probably benign	Het
Olfr884	T	A	9: 38,048,202		probably null	Het
Pcdhb2	A	T	18: 37,297,355		probably null	Het
Pcdhb22	A	C	18: 37,519,147	T223P	probably damaging	Het
Pcdhga1	T	A	18: 37,840,090	N907K	probably damaging	Het
Pcnt	T	C	10: 76,379,906	E2347G	probably null	Het
Phax	T	A	18: 56,573,104	V22D	probably benign	Het
Pik3ca	T	C	3: 32,450,350	F667S	probably damaging	Het
Pkd1	T	C	17: 24,594,931	F4123S	probably damaging	Het
Pkhd1	A	G	1: 20,615,267		probably null	Het
Plcb1	G	A	2: 135,311,014	R368K	probably benign	Het
Prrc2a	G	T	17: 35,153,308	R1739S	possibly damaging	Het
Psg23	A	T	7: 18,614,618	M88K	probably benign	Het
Pstk	T	A	7: 131,387,797	Y354N	probably damaging	Het
Rab39	A	G	9: 53,705,931	I62T	possibly damaging	Het
Ranbp2	A	G	10: 58,492,561	I2800V	probably damaging	Het
Rasgrp1	T	C	2: 117,290,347	Y431C	probably damaging	Het
Rest	T	A	5: 77,268,362	V141E	possibly damaging	Het
Rnf167	T	A	11: 70,650,139	I197N	possibly damaging	Het
Rtn1	A	G	12: 72,308,168	S335P	probably damaging	Het
Ryr2	G	T	13: 11,662,075	R3297S	probably damaging	Het
S1pr3	A	C	13: 51,419,916	K378Q	probably benign	Het
Scgb1b24	T	C	7: 33,744,044	Y43H	probably damaging	Het
Sh3rf3	T	A	10: 59,083,513	M484K	probably damaging	Het
Shank1	A	T	7: 44,342,115	R69*	probably null	Het
Siglecf	A	G	7: 43,355,543	N399S	probably benign	Het
Slc1a7	A	G	4: 108,008,364	T350A	probably damaging	Het
Slc25a54	T	A	3: 109,080,616	Y24*	probably null	Het
Slk	T	C	19: 47,625,452	F916L	probably damaging	Het
Snap91	T	A	9: 86,790,141		probably null	Het
Snrpb2	A	T	2: 143,065,186	R25S	possibly damaging	Het
Specc1l	T	C	10: 75,261,825	Y811H	probably damaging	Het
Sprr2h	A	G	3: 92,386,618		probably benign	Het
Sult2a5	A	T	7: 13,624,120	I26F	probably benign	Het
Syt13	C	T	2: 92,946,103	T245I	possibly damaging	Het
Tecrl	T	A	5: 83,354,859	T33S	probably benign	Het
Telo2	T	A	17: 25,114,994	D93V	probably benign	Het
Tet2	A	T	3: 133,481,441		probably null	Het
Tgm7	A	T	2: 121,101,089	C198S	probably damaging	Het
Ticrr	T	C	7: 79,679,135	F674S	probably damaging	Het
Tmem129	C	A	5: 33,654,499	C31F	probably damaging	Het
Tmem132a	T	A	19: 10,858,688	D826V	possibly damaging	Het
Tpd52	T	C	3: 8,953,802		probably null	Het
Trub2	A	G	2: 29,777,666	S321P	probably benign	Het
Ttc29	A	G	8: 78,282,385	T295A	probably benign	Het
Tubb1	G	A	2: 174,456,689	S89N	probably benign	Het
Ubap2	C	A	4: 41,233,617	G91V	probably damaging	Het
Ugt2b35	A	G	5: 87,001,288	N133D	probably damaging	Het
Usp34	A	G	11: 23,364,479	H807R	probably benign	Het
Vmn1r220	A	C	13: 23,184,287	C80G	probably damaging	Het
Vmn1r79	A	G	7: 12,176,647	E152G	probably benign	Het
Vmn2r28	T	C	7: 5,486,346	Y498C	probably benign	Het
Wif1	A	G	10: 121,084,919	I215M	probably benign	Het
Wnk1	T	C	6: 119,951,089	T1134A	probably damaging	Het
Zcchc11	T	A	4: 108,529,300	F1122L	probably damaging	Het
Zfp90	A	G	8: 106,419,123	H29R	probably benign	Het
Zfp972	A	G	2: 177,921,687		probably null	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
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
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'- ACGCATGGTAAACAACTGTCC -3'
(R):5'- TGTCAGTACATGCACAGGAGG -3'

Sequencing Primer
(F):5'- GCATGGTAAACAACTGTCCTACTAAG -3'
(R):5'- AAAGACTGGTGGATTGTGGTTTGAAG -3'

Posted On

2014-06-30