Mutagenetix > Incidental Mutations

Incidental Mutation 'R6851:Cracr2a'

534965

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 #

R6851 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127561338-127674248 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127608716 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 159 (D159V)

Ref Sequence

ENSEMBL: ENSMUSP00000148569 (fasta)

Gene Model

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

AlphaFold

Q3UP38

Predicted Effect

probably damaging
Transcript: ENSMUST00000071563
AA Change: D159V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000071494
Gene: ENSMUSG00000061414
AA Change: D159V

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: D159V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,312,419	C856S	probably benign	Het
Arrdc2	T	C	8: 70,838,725	E153G	probably damaging	Het
BC051142	A	T	17: 34,460,172	Y303F	possibly damaging	Het
BC055324	G	A	1: 163,964,767	R554C	probably damaging	Het
Cacna1d	T	C	14: 30,042,782	D2033G	probably damaging	Het
Cacna1s	G	A	1: 136,092,694	R823Q	probably benign	Het
Defa35	T	C	8: 21,065,130	I22T	possibly damaging	Het
Dgke	T	C	11: 89,052,483	T227A	probably benign	Het
Galnt10	G	A	11: 57,765,632	R214Q	probably damaging	Het
Gm11639	G	A	11: 105,005,695	R4290K	probably benign	Het
Gpr180	T	C	14: 118,153,625	Y189H	probably damaging	Het
Hadh	A	G	3: 131,271,971	S13P	possibly damaging	Het
Hcn2	T	A	10: 79,729,113		probably null	Het
Irgm2	T	C	11: 58,219,815	S123P	possibly damaging	Het
Kcnv1	T	A	15: 45,109,198	I430F	probably damaging	Het
Kif13b	G	A	14: 64,773,065	C1271Y	probably damaging	Het
Klhdc3	A	T	17: 46,678,292	I48N	possibly damaging	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Mprip	T	A	11: 59,759,015	W1182R	probably damaging	Het
Mycbp2	A	T	14: 103,260,194		probably null	Het
Olfr1099	T	C	2: 86,959,267	T64A	possibly damaging	Het
Olfr1112	T	A	2: 87,192,469	S261T	probably benign	Het
Olfr1160	T	A	2: 88,005,956	H265L	probably damaging	Het
Olfr339	T	A	2: 36,421,820	C141S	probably damaging	Het
Olfr916	A	G	9: 38,658,185	V69A	probably benign	Het
Osbpl8	T	A	10: 111,270,618	Y295*	probably null	Het
Pex5	A	G	6: 124,403,154	S275P	possibly damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Sele	G	T	1: 164,053,952	G543C	probably damaging	Het
Serpina3k	A	C	12: 104,345,366	Y401S	probably benign	Het
Slc13a4	A	G	6: 35,301,733	S74P	probably damaging	Het
Spata31d1a	A	G	13: 59,703,911	L114P	unknown	Het
Syne1	G	T	10: 5,262,703	C3295*	probably null	Het
Tepsin	G	T	11: 120,096,961	H44N	probably damaging	Het
Tpp1	A	T	7: 105,749,712	V170E	probably damaging	Het
Trav3-1	T	C	14: 52,580,971	V34A	probably damaging	Het
Ush2a	T	C	1: 188,533,205	V1642A	probably benign	Het
Vmn1r122	A	G	7: 21,133,920	I70T	probably benign	Het
Vmn2r96	A	G	17: 18,582,538	M237V	possibly damaging	Het
Wdr75	A	G	1: 45,823,427	E802G	probably benign	Het
Zan	G	A	5: 137,396,191	T4462I	unknown	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
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'- AATCCCTGAGACAGCGGAAG -3'
(R):5'- TCCAAGCTGCCTCCAATGAG -3'

Sequencing Primer
(F):5'- AAGCCAAGTCCTCCCTGG -3'
(R):5'- CTCCAATGAGGGGCATCC -3'

Posted On

2018-09-12