Mutagenetix > Incidental Mutations

Incidental Mutation 'R6437:Cracr2a'

518810

Institutional Source

Beutler Lab

Gene Symbol

Cracr2a

Ensembl Gene

ENSMUSG00000061414

Gene Name

calcium release activated channel regulator 2A

Synonyms

LOC243645, Efcab4b, LOC381812

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127561338-127674248 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127631831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 291 (D291G)

Ref Sequence

ENSEMBL: ENSMUSP00000148569 (fasta)

Gene Model

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

AlphaFold

Q3UP38

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 damaging
Transcript: ENSMUST00000212051
AA Change: D291G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	C	T	4: 156,176,778	V514I	probably damaging	Het
Atg16l1	T	C	1: 87,790,648	L545P	probably damaging	Het
Ces3b	T	A	8: 105,092,606	D431E	probably damaging	Het
Csmd2	T	G	4: 127,988,100	C11G	probably benign	Het
Dido1	A	G	2: 180,675,013	I127T	probably damaging	Het
Dpp8	A	T	9: 65,074,578	Y714F	probably benign	Het
Efcab5	G	A	11: 77,137,902	A201V	probably benign	Het
Eif3h	C	T	15: 51,799,264	V129I	probably benign	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fars2	G	A	13: 36,204,863	V112I	probably benign	Het
Fbn2	T	G	18: 58,113,363	D489A	probably damaging	Het
Frmd4b	G	T	6: 97,296,267	S675R	probably damaging	Het
Fsip2	C	T	2: 82,983,492	S3385F	possibly damaging	Het
Gm4758	A	G	16: 36,312,637	E92G	probably damaging	Het
Gtpbp10	A	G	5: 5,557,406	Y12H	probably damaging	Het
Kcng3	A	G	17: 83,631,129	S164P	probably damaging	Het
Kifap3	T	A	1: 163,857,526	L483Q	probably damaging	Het
Klk10	A	G	7: 43,782,817	H58R	probably benign	Het
Kntc1	T	G	5: 123,769,691	W452G	probably damaging	Het
Krt87	C	T	15: 101,438,392	D127N	possibly damaging	Het
Lipm	A	G	19: 34,121,257	Y377C	probably damaging	Het
Mrc2	G	A	11: 105,349,843	R1453H	probably damaging	Het
Nat1	T	C	8: 67,491,736	F255L	possibly damaging	Het
Neb	C	T	2: 52,257,557		probably null	Het
Nek5	T	A	8: 22,085,460	D491V	possibly damaging	Het
Nynrin	T	C	14: 55,871,770	S1445P	probably benign	Het
Olfr531	C	T	7: 140,400,521	C175Y	probably damaging	Het
Oog2	T	A	4: 144,195,108		probably null	Het
Pafah1b1	T	C	11: 74,677,731	T391A	probably benign	Het
Pcdhb7	T	C	18: 37,342,690	L293P	probably damaging	Het
Plce1	A	T	19: 38,525,132	T292S	probably benign	Het
Pold1	G	A	7: 44,538,778	R559C	probably damaging	Het
Rfx7	A	G	9: 72,618,486	Q986R	possibly damaging	Het
Rrp9	G	T	9: 106,482,951	R186L	probably benign	Het
Samm50	T	A	15: 84,204,097		probably null	Het
Scoc	T	C	8: 83,437,987	D7G	probably benign	Het
Smad9	C	T	3: 54,786,084	P145S	probably benign	Het
Smc1b	C	T	15: 85,092,031	R825Q	probably benign	Het
Snrk	A	G	9: 122,166,813	R553G	probably damaging	Het
Spata5	T	A	3: 37,528,198	V794E	probably damaging	Het
Srcap	T	A	7: 127,528,550		probably null	Het
Syne2	T	A	12: 75,990,414	V3789E	possibly damaging	Het
Thsd7b	T	C	1: 129,816,682	I769T	probably damaging	Het
Tmem159	A	T	7: 120,116,361		probably null	Het
Ttc7	A	G	17: 87,330,106	K430E	probably damaging	Het
Ubr4	T	A	4: 139,397,214		probably null	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Vmn2r37	G	T	7: 9,217,851	Q338K	probably damaging	Het
Yod1	T	C	1: 130,719,148	V254A	probably damaging	Het
Zfpm2	T	C	15: 41,099,397	S152P	probably benign	Het
Zmym2	T	A	14: 56,903,004	L100H	probably damaging	Het

Other mutations in Cracr2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02136:Cracr2a	APN	6	127629930	intron	probably benign
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
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
R8084:Cracr2a	UTSW	6	127639172	missense	probably benign	0.26
R8731:Cracr2a	UTSW	6	127625927	critical splice donor site	probably null
R8867:Cracr2a	UTSW	6	127629773	nonsense	probably null
Z1177:Cracr2a	UTSW	6	127607244	missense	probably benign	0.02
Z1177:Cracr2a	UTSW	6	127669063	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCCTGCCTGCAGAAATG -3'
(R):5'- TACACAGGCCAGGGAACATC -3'

Sequencing Primer
(F):5'- CTGCCTGCAGAAATGTCTACATGG -3'
(R):5'- CATCTCTGGGAGGGGAAATCC -3'

Posted On

2018-05-24