Mutagenetix > Incidental Mutation

Incidental Mutation 'R8371:Clca3a2'

646378

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

067740-MU

Accession Numbers

Essential gene?

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

Stock #

R8371 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 144807353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 477 (S477*)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably null
Transcript: ENSMUST00000029929
AA Change: S477*

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: S477*

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
AA Change: S37*

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 110,054,647	Q1050K	probably benign	Het
B4galt5	A	G	2: 167,309,225	M121T	probably damaging	Het
Birc3	A	G	9: 7,849,426	L549P	probably damaging	Het
Cacna1b	T	C	2: 24,720,024	N368S	possibly damaging	Het
Cbr1	A	G	16: 93,609,891	E165G	probably damaging	Het
Ccdc178	T	C	18: 21,811,504	D866G	possibly damaging	Het
Cd40	G	A	2: 165,066,538	G178E	probably damaging	Het
Cers1	T	A	8: 70,329,573	L349H	probably benign	Het
Chd8	T	C	14: 52,232,818	K445R	probably benign	Het
Clec4a1	T	A	6: 122,933,923	*246R	probably null	Het
CN725425	T	C	15: 91,240,770	I171T	probably benign	Het
Crybg3	A	G	16: 59,557,051	M1280T	probably benign	Het
Csf1r	A	T	18: 61,117,591	Q458L	probably benign	Het
Cyp3a11	A	T	5: 145,868,628	V193E	possibly damaging	Het
Cys1	A	G	12: 24,668,695	I53T	probably benign	Het
Dhrs3	A	C	4: 144,919,383		probably null	Het
Dhx57	T	C	17: 80,275,490	R229G	probably benign	Het
Dhx9	T	C	1: 153,456,215	N1336D	unknown	Het
Dmgdh	T	A	13: 93,708,730	H410Q	probably benign	Het
Dmxl1	T	A	18: 49,898,714	M2225K	probably benign	Het
Eif4g3	T	G	4: 138,096,845	Y80D	probably damaging	Het
Ephx4	A	T	5: 107,413,518	I164F	possibly damaging	Het
Eppk1	C	T	15: 76,110,119	R854Q	probably benign	Het
Fhl4	G	A	10: 85,098,773	A48V	probably benign	Het
Fmn2	T	C	1: 174,609,607	L1048S	unknown	Het
Gemin5	T	C	11: 58,126,558	M1212V	probably benign	Het
Gm9195	C	T	14: 72,460,459	V1294I	probably benign	Het
Gpr55	A	T	1: 85,941,127	V244E	probably damaging	Het
Hgfac	T	A	5: 35,045,443	F429Y	probably damaging	Het
Jade2	T	A	11: 51,825,132	E415D	probably benign	Het
Kcnj4	T	A	15: 79,485,141	I213F	probably damaging	Het
Kcnq5	G	A	1: 21,479,424	R360C	probably damaging	Het
Klhl33	C	T	14: 50,892,232	R312Q	probably damaging	Het
Krt82	T	C	15: 101,545,111	E280G	probably benign	Het
Lemd1	C	A	1: 132,228,949	Q40K	probably damaging	Het
Lmo7	T	C	14: 101,887,008	L423P	possibly damaging	Het
Lrp8	A	G	4: 107,869,071	Y773C	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,375,743		probably null	Het
Mroh8	A	T	2: 157,252,976	Y363*	probably null	Het
Olfr135	G	A	17: 38,208,298	A18T	probably benign	Het
Olfr485	G	A	7: 108,159,228	T215I	probably benign	Het
Olfr559	C	A	7: 102,723,583	K302N	probably damaging	Het
Pcdha2	T	C	18: 36,940,263	Y316H	possibly damaging	Het
Pcdha6	T	A	18: 36,969,867	C704*	probably null	Het
Pik3c2g	G	A	6: 139,936,056	V923M	unknown	Het
Rhd	A	G	4: 134,876,383	S72G	probably benign	Het
Rhot1	T	C	11: 80,243,466	L295P	probably damaging	Het
Rrp1b	A	G	17: 32,049,484	E139G	possibly damaging	Het
Scnn1a	T	G	6: 125,343,843	Y620D	possibly damaging	Het
Serpinb12	A	T	1: 106,956,405	I294L	probably benign	Het
Serpinb3d	T	C	1: 107,080,739	D132G	probably damaging	Het
Slc26a3	A	T	12: 31,452,542	D254V	probably damaging	Het
Srrm1	A	T	4: 135,325,221	I614N	unknown	Het
Stt3b	A	G	9: 115,266,175	Y263H	probably damaging	Het
Taf7	T	A	18: 37,643,499	K5I	probably damaging	Het
Tbck	C	A	3: 132,752,524	H638Q	possibly damaging	Het
Tnfsf9	A	C	17: 57,105,541	D37A	probably benign	Het
Trim71	C	A	9: 114,515,789	V354F	probably benign	Het
Tspoap1	T	G	11: 87,778,301	C1467G	probably benign	Het
Xirp1	C	T	9: 120,019,433	R128Q	possibly damaging	Het
Zc3h12d	GCCC	GCC	10: 7,839,971		probably null	Het
Zfhx2	T	C	14: 55,064,092	D2145G	probably damaging	Het
Zfy2	T	C	Y: 2,117,168	T220A	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
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
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'- CAGAGGAAAAGGTAACCACATTTTG -3'
(R):5'- CTCATCTTCTGTGGAGTTTAAACAG -3'

Sequencing Primer
(F):5'- GGTAACCACATTTTGTATGACTTCTG -3'
(R):5'- GAAAGTTCACAGCCTGAGTTC -3'

Posted On

2020-09-02