Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02136:Cracr2a'

281346

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cracr2a

Ensembl Gene

ENSMUSG00000061414

Gene Name

calcium release activated channel regulator 2A

Synonyms

LOC243645, Efcab4b, LOC381812

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02136

Quality Score

Status

Chromosome

Chromosomal Location

127561338-127674248 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 127629930 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071563] [ENSMUST00000212051]

Predicted Effect

probably benign
Transcript: ENSMUST00000071563

SMART Domains

Protein: ENSMUSP00000071494
Gene: ENSMUSG00000061414

Domain	Start	End	E-Value	Type
EFh	48	76	2.82e1	SMART
EFh	82	110	2.09e-4	SMART
coiled coil region	192	282	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201303

SMART Domains

Protein: ENSMUSP00000143930
Gene: ENSMUSG00000061414

Domain	Start	End	E-Value	Type
EFh	48	76	2.82e1	SMART
EFh	82	110	2.09e-4	SMART
coiled coil region	192	282	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212051

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,247,142	T2511K	probably damaging	Het
Acta2	T	A	19: 34,251,830	D53V	probably damaging	Het
Banf1	G	A	19: 5,365,070	A71V	probably benign	Het
Cacng5	A	T	11: 107,881,731	I97N	probably benign	Het
Clec14a	T	A	12: 58,268,629	E69V	probably damaging	Het
Dysf	A	G	6: 84,108,167	R845G	probably benign	Het
Dzip3	T	C	16: 48,927,582	N949S	possibly damaging	Het
Eprs	T	G	1: 185,384,983	W408G	probably damaging	Het
Fgf14	G	A	14: 123,980,372	P240S	possibly damaging	Het
Fpgt	G	T	3: 155,093,352	A2E	probably benign	Het
Galntl5	T	A	5: 25,220,062	S392R	probably benign	Het
Gatd1	A	G	7: 141,408,960	*221Q	probably null	Het
Gcsam	T	A	16: 45,610,533	M1K	probably null	Het
Ksr2	A	G	5: 117,616,894	N351S	possibly damaging	Het
Map1a	T	C	2: 121,300,212	V503A	probably damaging	Het
Myl12a	T	A	17: 70,996,856	K9*	probably null	Het
Ncapg2	A	T	12: 116,460,583	M1129L	probably benign	Het
Olfr228	T	C	2: 86,483,465	I92M	probably damaging	Het
Olfr744	T	C	14: 50,618,251	S10P	possibly damaging	Het
Otof	T	C	5: 30,373,992	K1691E	possibly damaging	Het
Pdk4	A	T	6: 5,486,715	M353K	probably damaging	Het
Pkhd1	A	T	1: 20,275,615	W2730R	probably damaging	Het
Pkn2	T	A	3: 142,853,590	K58I	probably damaging	Het
Plk5	T	C	10: 80,363,167		probably null	Het
Prkcq	T	C	2: 11,260,668	F399L	probably benign	Het
Ptprz1	G	A	6: 22,972,822	V244M	probably damaging	Het
Rpusd2	T	C	2: 119,038,178	F361L	probably damaging	Het
Rttn	T	A	18: 89,046,128	L1168I	possibly damaging	Het
S100a9	T	C	3: 90,692,768	H107R	probably benign	Het
Serpinb3a	T	A	1: 107,046,285	M299L	probably benign	Het
Slfn8	G	A	11: 83,003,465	Q783*	probably null	Het
Smc3	T	C	19: 53,635,716	I721T	probably benign	Het
Top2b	C	A	14: 16,407,103		probably benign	Het
Uvssa	T	A	5: 33,391,848	W351R	probably damaging	Het
Vmn2r107	G	T	17: 20,374,906	V574L	probably benign	Het
Wdr3	G	A	3: 100,138,725	R931*	probably null	Het

Other mutations in Cracr2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4812001:Cracr2a	UTSW	6	127625870	missense	probably damaging	1.00
R0111:Cracr2a	UTSW	6	127604061	missense	probably benign	0.00
R0180:Cracr2a	UTSW	6	127604074	critical splice donor site	probably null
R1612:Cracr2a	UTSW	6	127603929	nonsense	probably null
R1929:Cracr2a	UTSW	6	127607298	missense	probably damaging	1.00
R2055:Cracr2a	UTSW	6	127608601	nonsense	probably null
R2270:Cracr2a	UTSW	6	127607298	missense	probably damaging	1.00
R2272:Cracr2a	UTSW	6	127607298	missense	probably damaging	1.00
R2915:Cracr2a	UTSW	6	127611505	missense	probably damaging	0.98
R4476:Cracr2a	UTSW	6	127629819	missense	probably benign	0.18
R4600:Cracr2a	UTSW	6	127603888	missense	probably benign	0.00
R4767:Cracr2a	UTSW	6	127611507	missense	probably damaging	0.98
R5256:Cracr2a	UTSW	6	127604029	missense	probably damaging	1.00
R5657:Cracr2a	UTSW	6	127604007	missense	probably damaging	1.00
R5729:Cracr2a	UTSW	6	127607236	missense	possibly damaging	0.88
R6437:Cracr2a	UTSW	6	127631831	missense	probably damaging	0.96
R6572:Cracr2a	UTSW	6	127608752	splice site	probably null
R6851:Cracr2a	UTSW	6	127608716	missense	probably damaging	1.00
R7177:Cracr2a	UTSW	6	127608706	missense	probably benign	0.00
R7616:Cracr2a	UTSW	6	127608697	nonsense	probably null
R7809:Cracr2a	UTSW	6	127649962	missense	probably benign
R8030:Cracr2a	UTSW	6	127611423	missense	probably damaging	0.96
Z1177:Cracr2a	UTSW	6	127607244	missense	probably benign	0.02
Z1177:Cracr2a	UTSW	6	127669063	missense	probably damaging	1.00

Posted On

2015-04-16