Mutagenetix > Incidental Mutation

Incidental Mutation 'R1776:Clca3a2'

197003

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

039807-MU

Accession Numbers

Essential gene?

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

Stock #

R1776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144813920 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 231 (Q231L)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029929
AA Change: Q231L

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

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: Q231L

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

0.6467

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

Validation Efficiency

98% (86/88)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	C	10: 70,875,228		noncoding transcript	Het
9430097D07Rik	T	C	2: 32,574,755		probably benign	Het
A2m	C	G	6: 121,641,424	F225L	probably damaging	Het
Adamts19	T	A	18: 58,954,620	I574N	probably damaging	Het
AI314180	A	G	4: 58,879,100	I63T	probably damaging	Het
Ankfn1	T	C	11: 89,526,474	D104G	possibly damaging	Het
Ankhd1	T	A	18: 36,647,308	N1804K	probably benign	Het
Ankle1	G	T	8: 71,409,274	V474F	probably damaging	Het
Arfgap3	A	G	15: 83,343,139	V24A	probably benign	Het
Asph	A	T	4: 9,598,773	S149R	probably damaging	Het
Cass4	A	T	2: 172,427,695	I568L	probably benign	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Cdx1	G	A	18: 61,036,014	A36V	probably benign	Het
Cep57	A	T	9: 13,818,874	S123T	probably damaging	Het
Clcnkb	T	C	4: 141,415,189		probably benign	Het
Crabp2	C	A	3: 87,952,994	T125K	probably benign	Het
Dennd3	A	G	15: 73,555,101	T776A	possibly damaging	Het
Dnajb6	T	C	5: 29,785,093		probably benign	Het
Dsp	T	A	13: 38,196,617	I1847N	probably damaging	Het
Dync1h1	T	C	12: 110,632,928		probably benign	Het
Fbn1	A	C	2: 125,321,734	F2067L	possibly damaging	Het
Fbxo16	T	A	14: 65,295,386		probably null	Het
Gm3604	C	A	13: 62,370,074	G157*	probably null	Het
Gm5250	A	G	1: 13,062,340		noncoding transcript	Het
Gpam	A	G	19: 55,078,575	S503P	possibly damaging	Het
Herc4	T	A	10: 63,264,171	C124*	probably null	Het
Ift27	T	C	15: 78,165,981	D76G	probably null	Het
Igdcc3	C	T	9: 65,182,752	Q550*	probably null	Het
Igsf6	T	A	7: 121,068,299	I165F	probably damaging	Het
Il31ra	T	C	13: 112,541,239	I173M	probably damaging	Het
Kbtbd6	G	A	14: 79,452,605	D247N	probably benign	Het
Kcnq2	T	A	2: 181,100,557	T394S	probably benign	Het
Mia2	A	G	12: 59,149,575		probably benign	Het
Mvp	T	C	7: 126,992,761	Q419R	probably benign	Het
Mylk	A	G	16: 34,952,782	D1250G	probably benign	Het
Necab1	A	G	4: 15,111,267	Y54H	probably damaging	Het
Nlk	T	A	11: 78,587,027	M297L	probably benign	Het
Nsl1	G	T	1: 191,063,188	M50I	probably benign	Het
Numa1	A	G	7: 102,011,050	T441A	probably damaging	Het
Ofd1	A	G	X: 166,406,006	Y755H	probably benign	Het
Olfr810	C	T	10: 129,791,131	V153I	probably benign	Het
Olfr870	G	A	9: 20,170,809	T254I	probably benign	Het
Olfr934	G	A	9: 38,982,894	S50F	probably damaging	Het
Ovgp1	A	T	3: 105,977,798	H151L	possibly damaging	Het
Pigz	G	A	16: 31,944,579	E152K	probably damaging	Het
Plxna1	A	T	6: 89,335,464	D779E	probably benign	Het
Ppil4	A	T	10: 7,810,437	E353V	probably benign	Het
Ptprq	C	T	10: 107,685,089	G741S	probably damaging	Het
Rplp0	T	C	5: 115,562,465	Y231H	probably benign	Het
Rps24	A	G	14: 24,491,762	T6A	probably damaging	Het
Rundc3b	T	C	5: 8,579,050	E117G	probably damaging	Het
Ryr2	A	C	13: 11,745,176		probably null	Het
Ryr3	A	T	2: 112,957,253	M198K	probably damaging	Het
Sdhd	T	C	9: 50,597,200	K122R	probably benign	Het
Senp2	T	C	16: 22,043,060		probably benign	Het
Setd3	C	A	12: 108,165,161	G2V	probably damaging	Het
Sfxn5	A	G	6: 85,267,945		probably benign	Het
She	T	A	3: 89,832,038	S179T	possibly damaging	Het
Slc24a2	G	A	4: 87,176,289	T331I	probably benign	Het
Slc45a3	T	C	1: 131,976,956	W6R	possibly damaging	Het
Slc9a4	T	C	1: 40,629,287	S697P	probably benign	Het
Soat1	C	T	1: 156,442,421	V143I	probably benign	Het
Sp8	T	A	12: 118,849,567	F386I	probably damaging	Het
Spata31d1b	A	G	13: 59,716,567	T510A	probably benign	Het
Srgap2	T	A	1: 131,411,850	I125F	probably damaging	Het
Stab2	T	A	10: 86,957,816	I472F	possibly damaging	Het
Taar7f	C	T	10: 24,049,648	R47C	probably benign	Het
Tbc1d19	T	A	5: 53,889,311		probably null	Het
Tbc1d21	T	A	9: 58,366,728		probably benign	Het
Tcaf1	A	G	6: 42,678,455	I529T	possibly damaging	Het
Tgfbr2	A	T	9: 116,174,967	I24N	possibly damaging	Het
Tgm1	T	C	14: 55,709,397	T385A	probably damaging	Het
Tgm2	T	C	2: 158,131,459	N244S	probably benign	Het
Thoc5	T	C	11: 4,914,517		probably benign	Het
Tmc2	A	T	2: 130,234,869	I372F	probably damaging	Het
Tnrc6a	A	G	7: 123,171,297	D222G	probably damaging	Het
Trhde	T	G	10: 114,800,603	N233T	probably benign	Het
Tstd3	T	C	4: 21,759,475	Y99C	probably damaging	Het
Ttc22	A	T	4: 106,639,040	D429V	possibly damaging	Het
Ugcg	A	G	4: 59,207,775	N38S	probably benign	Het
Ush2a	A	G	1: 188,728,203	I2554V	possibly damaging	Het
Usp16	A	G	16: 87,479,316	D513G	probably damaging	Het
Vip	T	C	10: 5,644,992		probably null	Het
Vmn1r4	A	G	6: 56,957,038	I176V	probably benign	Het
Zfp804b	T	C	5: 6,769,806	T1050A	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
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
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'- CAGCAGACGCCTTGATTACATCCC -3'
(R):5'- CTTTTATCATAGGTGCTCCGCCAGC -3'

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

Posted On

2014-05-23