Mutagenetix > Incidental Mutation

Incidental Mutation 'R9261:Clca3a2'

702230

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

MMRRC Submission

068990-MU

Accession Numbers

Essential gene?

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

Stock #

R9261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 144819397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 25 (H25N)

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000159989]

AlphaFold

Q9EQR4

Predicted Effect

probably benign
Transcript: ENSMUST00000029929
AA Change: H25N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: H25N

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 benign
Transcript: ENSMUST00000159989

SMART Domains

Protein: ENSMUSP00000124581
Gene: ENSMUSG00000037033

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWA	306	481	6.22e-19	SMART
FN3	762	861	4.93e0	SMART
low complexity region	880	1025	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	T	A	9: 51,291,698	H52L	probably benign	Het
Adamts7	A	G	9: 90,193,344	E1043G	probably benign	Het
Agps	T	G	2: 75,854,506		probably benign	Het
Ahnak	A	G	19: 9,016,139	E4929G	possibly damaging	Het
Arl6ip4	T	A	5: 124,118,083		probably benign	Het
Cubn	C	T	2: 13,278,451	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,620,920	W15R	probably benign	Het
Dzank1	T	C	2: 144,513,424	E117G	probably benign	Het
Eml2	A	G	7: 19,179,818	T187A	probably benign	Het
Eml5	A	G	12: 98,856,028	V747A	probably damaging	Het
Esr1	T	A	10: 4,969,271	S454T	probably damaging	Het
Evc2	A	G	5: 37,380,551	T528A	probably benign	Het
Fbxo5	T	C	10: 5,802,325	N96S	probably damaging	Het
Fcnb	T	C	2: 28,079,624	T144A	probably damaging	Het
Fgf20	T	A	8: 40,286,910		probably benign	Het
Gcg	T	C	2: 62,476,064		probably benign	Het
Gfm2	T	A	13: 97,162,861	Y363*	probably null	Het
Gm28710	T	C	5: 16,801,549	L88P	possibly damaging	Het
Gm4951	T	A	18: 60,220,748		probably benign	Het
Grwd1	C	T	7: 45,825,957	R387Q	probably benign	Het
Gstt2	C	T	10: 75,833,677	D59N	possibly damaging	Het
Herc1	A	G	9: 66,504,847	N4783S	probably damaging	Het
Hydin	C	A	8: 110,267,415	A27E	unknown	Het
Ikbip	A	G	10: 91,096,387	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,722,974	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,149,424	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,593,421		probably benign	Het
Klhl40	A	G	9: 121,779,936	D389G	probably benign	Het
Ly6g	A	G	15: 75,158,680	T116A	probably damaging	Het
Mast2	A	G	4: 116,308,703	L1276P	probably damaging	Het
Mitf	A	G	6: 98,013,743	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,306,643	Y192*	probably null	Het
Nav1	T	A	1: 135,460,357	E1109D	unknown	Het
Nav2	A	G	7: 49,597,156	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,677,374	Q119R	possibly damaging	Het
Nek9	A	G	12: 85,313,067	V537A	probably damaging	Het
Notum	G	T	11: 120,660,148	T64K		Het
Nudcd2	A	G	11: 40,739,199	N144S	probably damaging	Het
Nup205	A	G	6: 35,199,857	E596G	probably benign	Het
Olfml1	T	A	7: 107,567,800	L12Q	possibly damaging	Het
Olfr1313	T	A	2: 112,072,373	D70V	probably damaging	Het
Olfr524	A	G	7: 140,202,650	V40A	probably benign	Het
Olfr639	C	T	7: 104,012,129	C191Y	probably damaging	Het
Olfr661	T	A	7: 104,688,053	F13I	probably benign	Het
Olfr668	A	T	7: 104,925,098	M222K	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Padi4	T	C	4: 140,752,615	N409S	probably damaging	Het
Pam	T	A	1: 97,975,895	T38S	probably benign	Het
Piezo2	T	C	18: 63,075,797	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,890,431	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,189,429	H180L	probably benign	Het
Pprc1	A	G	19: 46,062,429	T169A	unknown	Het
Prrc2c	A	G	1: 162,678,053	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,832,130	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,336,559	D40G	probably damaging	Het
Rbm19	T	C	5: 120,118,745	F41S	probably damaging	Het
Rbsn	T	C	6: 92,189,816	M616V	probably benign	Het
Ryr1	A	T	7: 29,052,388	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,950,098	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,199,709	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,036,866	S741T	probably damaging	Het
Stk19	T	G	17: 34,832,456	Y108S	possibly damaging	Het
Stox2	T	C	8: 47,192,406	E673G	possibly damaging	Het
Tax1bp1	T	A	6: 52,737,131	C271S	probably benign	Het
Tmem161a	C	A	8: 70,178,922	R167S	probably damaging	Het
Tnrc6c	T	A	11: 117,714,279	V80E	probably damaging	Het
Trpa1	G	A	1: 14,893,241	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,908,230	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,540,811	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,394,107	E45D	probably benign	Het
Vnn3	A	G	10: 23,865,709	E304G	probably damaging	Het
Zfp541	G	A	7: 16,082,104	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,217,523	K814E	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
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
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'- ATGAAGACGGTCAAAGCGCC -3'
(R):5'- GTCCCAAGAGATATCAGCATTTC -3'

Sequencing Primer
(F):5'- AAAACCGTGTGTGTGAGTGTGTAAC -3'
(R):5'- GCAAATATTCTGGCCGTG -3'

Posted On

2022-03-25