Mutagenetix > Incidental Mutation

Incidental Mutation 'R8344:Clca3a2'

645073

Institutional Source

Beutler Lab

Gene Symbol

Clca3a2

Ensembl Gene

ENSMUSG00000028262

Gene Name

chloride channel accessory 3A2

Synonyms

Clca2

Accession Numbers

Essential gene?

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

Stock #

R8344 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144796559-144819494 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 144805942 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029929 (fasta)

Gene Model

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

AlphaFold

Q9EQR4

Predicted Effect

probably null
Transcript: ENSMUST00000029929

SMART Domains

Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262

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

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: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	T	19: 31,911,119	Y83F	possibly damaging	Het
Adgre1	C	G	17: 57,408,459	Q260E	probably benign	Het
Adgrf4	T	A	17: 42,666,908	M515L	probably benign	Het
Adgrl2	A	T	3: 148,859,525	C140S	probably damaging	Het
Ago3	T	A	4: 126,376,928	K258*	probably null	Het
Ampd1	A	T	3: 103,095,686	E573V	possibly damaging	Het
Atxn7l3b	T	A	10: 112,928,662	I21F	possibly damaging	Het
Bckdha	C	T	7: 25,631,447	R298H	probably damaging	Het
Cacng3	A	C	7: 122,768,346	I150L	possibly damaging	Het
Ccdc18	A	T	5: 108,161,503	K321N	possibly damaging	Het
Ccl11	A	T	11: 82,061,742	K47M	possibly damaging	Het
Cdkn2a	T	C	4: 89,276,750	I142M	probably benign	Het
Cfap65	C	T	1: 74,928,044	G249R	probably benign	Het
Chrna1	C	A	2: 73,570,609	E192D	probably benign	Het
Clasp1	A	G	1: 118,503,899	N420D	probably damaging	Het
Cntn2	T	C	1: 132,521,774	Y643C	probably damaging	Het
Dcun1d1	G	A	3: 35,897,554	H204Y	probably benign	Het
Dlg2	A	T	7: 92,438,014	Q767L	possibly damaging	Het
Dnah11	A	G	12: 118,085,731	S1653P	probably benign	Het
Dvl3	T	A	16: 20,523,763		probably null	Het
Egf	T	C	3: 129,754,943	T8A	unknown	Het
Eln	G	T	5: 134,728,392	T219K	unknown	Het
Evc	T	C	5: 37,314,528	D536G	possibly damaging	Het
Fbxo3	A	G	2: 104,051,208	E295G	possibly damaging	Het
Gm14548	T	A	7: 3,896,955	E216V	possibly damaging	Het
Gp2	C	T	7: 119,442,787	C505Y	probably benign	Het
Gpr37	A	G	6: 25,669,531	F438S	probably damaging	Het
Gsk3b	T	C	16: 38,191,625	S236P	probably benign	Het
Kdm5d	A	G	Y: 942,477	T1381A	probably benign	Het
Klhl12	T	C	1: 134,485,722	I315T	possibly damaging	Het
Ltb	T	A	17: 35,195,193	N102K	probably benign	Het
Macf1	T	C	4: 123,526,856	T202A	probably benign	Het
Macf1	C	A	4: 123,384,683	D5993Y	probably damaging	Het
Mak	T	A	13: 41,046,203	D320V	probably benign	Het
Map2	G	A	1: 66,421,713	R1556H	probably damaging	Het
Mgat4d	G	T	8: 83,368,133	M266I	probably benign	Het
Mmp24	G	T	2: 155,810,303	R310S	possibly damaging	Het
Myh6	A	T	14: 54,953,434	L928Q	probably damaging	Het
Npnt	A	G	3: 132,908,456	L179P	probably damaging	Het
Olfr1205	A	G	2: 88,831,383	I89V	probably benign	Het
Olfr38	A	G	6: 42,762,565	N171S	probably benign	Het
Olfr972	T	G	9: 39,873,935	F220C	probably benign	Het
Parp4	A	T	14: 56,648,729	Y1755F	unknown	Het
Phactr1	A	G	13: 42,709,821	E74G	possibly damaging	Het
Plcg1	G	A	2: 160,747,896	M113I	probably benign	Het
Plekhh2	T	G	17: 84,571,761	S638A	possibly damaging	Het
Ppp2r3a	T	A	9: 101,211,786	H446L	probably benign	Het
Prkcg	G	T	7: 3,330,170	D644Y	probably damaging	Het
Rbbp8nl	G	T	2: 180,279,713	R293S	probably benign	Het
Rbl2	A	T	8: 91,115,759	H1057L	possibly damaging	Het
Rpgrip1	A	T	14: 52,150,362	H1076L	possibly damaging	Het
Scn11a	A	C	9: 119,781,970	D938E	probably benign	Het
Sec24b	T	C	3: 130,005,001	D573G	probably damaging	Het
Serpinf1	T	G	11: 75,415,571	Q147P	unknown	Het
Skint6	C	T	4: 113,236,445	G167D	probably damaging	Het
Slc15a5	A	G	6: 138,079,900	F6S	probably damaging	Het
Smc2	T	A	4: 52,449,376	I179K	probably benign	Het
Smpdl3a	A	G	10: 57,800,977	K57R	possibly damaging	Het
Smpdl3b	T	A	4: 132,746,679	H25L	probably damaging	Het
Srpk1	T	C	17: 28,620,424	D35G	unknown	Het
Strn	A	G	17: 78,672,647	V324A	probably damaging	Het
Sult6b2	T	C	6: 142,790,296	K191E	probably benign	Het
Tmem168	A	G	6: 13,583,325	I519T	probably benign	Het
Tmem41a	T	C	16: 21,938,034	T112A	probably benign	Het
Tmem67	A	G	4: 12,058,576	I507T	probably benign	Het
Tns1	T	C	1: 73,985,042	E454G	probably damaging	Het
Trim26	C	A	17: 36,857,710	D422E	unknown	Het
Triobp	C	A	15: 78,958,275	R58S	possibly damaging	Het
Trp53	T	C	11: 69,587,583	F106S	probably damaging	Het
Tshz3	C	A	7: 36,771,537	Q984K	probably damaging	Het
Ttll3	A	G	6: 113,394,998	E73G	probably damaging	Het
Vmn1r194	A	G	13: 22,245,077	N288S	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
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'- TGGCTGACCCGTACATACAC -3'
(R):5'- GGCACTGCAGAGGTAAGTCTATTC -3'

Sequencing Primer
(F):5'- ACAATCATCCGGCTAGGGTACTG -3'
(R):5'- GCAGAGGTAAGTCTATTCTTTTCACC -3'

Posted On

2020-09-02