Mutagenetix > Incidental Mutations

Incidental Mutation 'R0111:Cracr2a'

20451

Institutional Source

Beutler Lab

Gene Symbol

Cracr2a

Ensembl Gene

ENSMUSG00000061414

Gene Name

calcium release activated channel regulator 2A

Synonyms

LOC243645, Efcab4b, LOC381812

MMRRC Submission

038397-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0111 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

127561338-127674248 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127604061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 67 (T67A)

Ref Sequence

ENSEMBL: ENSMUSP00000148569 (fasta)

Gene Model

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

AlphaFold

Q3UP38

Predicted Effect

probably benign
Transcript: ENSMUST00000071563
AA Change: T67A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071494
Gene: ENSMUSG00000061414
AA Change: T67A

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
AA Change: T67A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.8%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	T	17: 55,817,073	H491L	possibly damaging	Het
Adgrg3	T	C	8: 95,035,110		probably benign	Het
Arhgap5	T	C	12: 52,559,960		probably benign	Het
Asic1	T	C	15: 99,696,983	Y334H	probably damaging	Het
Calcr	T	A	6: 3,717,157	D101V	probably damaging	Het
Cdh2	A	T	18: 16,774,509	N57K	probably benign	Het
Clec4d	C	A	6: 123,268,047	Y95*	probably null	Het
Dennd5a	A	T	7: 109,934,754	V53D	probably damaging	Het
Dnah7a	T	C	1: 53,468,684	D3076G	probably benign	Het
Espnl	T	C	1: 91,344,742	M608T	probably benign	Het
Fam149a	C	T	8: 45,341,146		probably benign	Het
Fam35a	T	C	14: 34,267,729	K407E	probably damaging	Het
Fam46c	T	C	3: 100,472,786	D218G	probably damaging	Het
Flnc	T	C	6: 29,454,340	V1884A	probably damaging	Het
Helz2	A	C	2: 181,237,802	S674R	probably benign	Het
Hoxa2	T	G	6: 52,164,487		probably null	Het
Ifi47	T	A	11: 49,096,070	N221K	probably damaging	Het
Ipo9	A	G	1: 135,405,924	V340A	probably damaging	Het
Kalrn	A	T	16: 34,031,590	N373K	probably damaging	Het
Kif26a	T	C	12: 112,163,337		probably benign	Het
Kiss1r	A	G	10: 79,918,689	T6A	possibly damaging	Het
Lama1	A	T	17: 67,737,498	I131F	probably damaging	Het
Nefm	T	C	14: 68,124,542	D91G	probably benign	Het
Nos3	C	T	5: 24,372,704	T572I	probably damaging	Het
Notch2	T	C	3: 98,138,761	F1710L	probably benign	Het
Olfr70	T	C	4: 43,696,648	N175S	probably damaging	Het
Olfr804	T	A	10: 129,705,277	I133N	probably damaging	Het
Ostm1	T	C	10: 42,679,258	L92P	probably damaging	Het
Pcdh15	T	A	10: 74,626,819	Y1445*	probably null	Het
Pde1b	T	C	15: 103,503,513	S14P	probably benign	Het
Pitpna	T	C	11: 75,625,484	V265A	probably benign	Het
Plec	G	T	15: 76,178,646	T2476K	probably damaging	Het
Pold2	A	G	11: 5,876,760	L58P	probably damaging	Het
Ppp3cc	C	T	14: 70,256,359		probably null	Het
Prss36	A	G	7: 127,934,545	L530P	probably damaging	Het
Ptpn13	T	C	5: 103,580,763		probably benign	Het
Ptpn23	T	C	9: 110,385,623	D1570G	probably damaging	Het
Rab42	T	C	4: 132,302,365	D182G	possibly damaging	Het
Rbm27	T	A	18: 42,305,672		probably benign	Het
Rp1	T	C	1: 4,344,760	E2043G	probably damaging	Het
Rufy3	C	T	5: 88,630,584	S341F	probably damaging	Het
Samd9l	C	T	6: 3,374,946	V772I	possibly damaging	Het
Scaper	A	G	9: 55,602,790	M654T	probably benign	Het
Sipa1l3	G	A	7: 29,348,318	P333S	probably damaging	Het
Slc30a10	C	A	1: 185,455,547	R162S	probably benign	Het
Spryd3	A	T	15: 102,128,537		probably null	Het
Tas2r110	T	C	6: 132,868,203	F66L	probably benign	Het
Thap2	T	C	10: 115,372,627	N196S	probably benign	Het
Themis2	C	A	4: 132,789,925	R88L	probably benign	Het
Trip12	A	T	1: 84,759,133		probably benign	Het
Ube3b	T	A	5: 114,390,376		probably benign	Het
Usp20	T	A	2: 31,002,612	H64Q	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r15	T	C	5: 109,287,156	R561G	possibly damaging	Het
Vsig10l	A	G	7: 43,468,101	D604G	probably damaging	Het
Wdr90	A	G	17: 25,848,444		probably benign	Het
Xirp2	A	T	2: 67,508,378	N321I	probably damaging	Het
Zfp595	A	G	13: 67,320,920	F11S	possibly damaging	Het
Zfp953	T	A	13: 67,343,075	H271L	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
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
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'- TGTCCCCTGTCCAGGTTCTGAAAA -3'
(R):5'- CCAACAGCAGGCAAGGACTGAGTAT -3'

Sequencing Primer
(F):5'- GAAATCCACACGTCCGATGG -3'
(R):5'- TATGGAAAGAACAGAGATCAGGCTC -3'

Posted On

2013-04-11