Mutagenetix > Incidental Mutations

Incidental Mutation 'R8731:Cracr2a'

662752

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 #

R8731 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127561338-127674248 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 127625927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071494 (fasta)

Gene Model

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

AlphaFold

Q3UP38

Predicted Effect

probably null
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

probably null
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

probably benign
Transcript: ENSMUST00000212051

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 95.9%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 60,024,946	D294V	probably benign	Het
Abcc8	T	G	7: 46,154,562	Y396S	probably damaging	Het
Ace	T	A	11: 105,970,600	F192I	possibly damaging	Het
Apeh	A	G	9: 108,087,223	S494P	probably benign	Het
Bod1	A	G	11: 31,669,242		probably null	Het
Cap2	T	C	13: 46,646,530	M404T	probably benign	Het
Cc2d2a	A	T	5: 43,735,446	D1450V	probably damaging	Het
Ccdc144b	A	T	3: 36,035,285	N163K	probably benign	Het
Cdk5rap2	A	T	4: 70,245,510		probably benign	Het
Clip1	A	C	5: 123,614,693	S342A		Het
Cox10	A	G	11: 63,964,219	F412S	probably damaging	Het
Dcaf7	T	A	11: 106,054,722	M299K	possibly damaging	Het
Dffb	T	C	4: 153,974,644	T59A	possibly damaging	Het
Dgkd	A	G	1: 87,916,813	M234V	possibly damaging	Het
Disp1	A	T	1: 183,087,508	V1116E	possibly damaging	Het
Dpysl3	C	T	18: 43,438,092	C39Y	probably damaging	Het
Dync1h1	T	A	12: 110,640,584	V2565D	possibly damaging	Het
Fam227b	A	T	2: 126,126,978	Y59N	possibly damaging	Het
Gm21680	A	T	5: 25,968,232	V210D	probably damaging	Het
Gnas	T	C	2: 174,284,906	V78A	probably benign	Het
Gpr179	T	C	11: 97,343,729	T509A	probably damaging	Het
Igfn1	A	G	1: 135,997,836	M60T	probably benign	Het
Llgl2	A	G	11: 115,851,190	Q686R	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Mylk3	T	G	8: 85,359,005	E300A	probably benign	Het
Myo1b	A	C	1: 51,760,411		probably benign	Het
Myo9b	T	C	8: 71,353,842		probably null	Het
Nalcn	T	C	14: 123,599,854	I33V	probably benign	Het
Nsl1	A	G	1: 191,082,412	Y270C	probably damaging	Het
Olfr312	C	T	11: 58,831,442	A96V	probably benign	Het
Otulin	A	G	15: 27,608,842	M205T	probably benign	Het
Plch1	A	T	3: 63,697,638	V1615E	probably benign	Het
Rab9	C	T	X: 166,457,758	D186N	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Scn3a	A	T	2: 65,468,163	Y1397*	probably null	Het
Scrib	A	T	15: 76,063,639	H549Q	probably benign	Het
Slc36a4	A	G	9: 15,719,752	I56V	possibly damaging	Het
Spata7	T	A	12: 98,658,282	S148T	probably damaging	Het
Stk31	T	A	6: 49,438,501	L590Q	probably benign	Het
Tanc1	T	C	2: 59,843,252	V1567A	probably benign	Het
Tspan33	T	C	6: 29,717,311	F237S	probably damaging	Het
Uhrf1	T	A	17: 56,322,363	L737Q	probably damaging	Het
Vmn2r2	A	G	3: 64,116,983	F726L	probably benign	Het
Vmn2r65	A	T	7: 84,940,239	L823*	probably null	Het
Vps11	T	C	9: 44,354,459	N508D	probably benign	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
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
R8084:Cracr2a	UTSW	6	127639172	missense	probably benign	0.26
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'- TCAGCTCCAGGAACTATGGCTG -3'
(R):5'- ACATGCTCAGGTAACCGAGG -3'

Sequencing Primer
(F):5'- AACTATGGCTGTGGGATAAGTGGATC -3'
(R):5'- CTCAGGTAACCGAGGCAGAATTAG -3'

Posted On

2021-03-08