Mutagenetix > Incidental Mutations

Incidental Mutation 'R5729:Cracr2a'

452654

Institutional Source

Beutler Lab

Gene Symbol

Cracr2a

Ensembl Gene

ENSMUSG00000061414

Gene Name

calcium release activated channel regulator 2A

Synonyms

LOC243645, Efcab4b, LOC381812

MMRRC Submission

043346-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5729 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127561338-127674248 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127607236 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 86 (V86A)

Ref Sequence

ENSEMBL: ENSMUSP00000071494 (fasta)

Gene Model

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

AlphaFold

Q3UP38

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071563
AA Change: V86A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071494
Gene: ENSMUSG00000061414
AA Change: V86A

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: V86A

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.1465

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss	A	T	1: 177,796,258	V46E	possibly damaging	Het
Aldoart2	T	C	12: 55,565,905	V205A	probably benign	Het
Atp1a2	A	G	1: 172,293,371	S45P	probably damaging	Het
Atp4a	A	G	7: 30,712,426	K29E	possibly damaging	Het
AU040320	T	A	4: 126,830,415	D428E	probably damaging	Het
Bend7	T	C	2: 4,763,274	L347P	probably damaging	Het
Cacna2d1	T	A	5: 15,935,039	L9*	probably null	Het
Ccdc103	A	T	11: 102,883,078	I50F	probably damaging	Het
Cdc5l	T	C	17: 45,426,569	I88V	probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dgkd	C	T	1: 87,936,332	Q90*	probably null	Het
Dnajc21	A	T	15: 10,449,596	D446E	probably benign	Het
Fam13a	T	G	6: 58,939,307	R648S	probably damaging	Het
Gabrg2	A	G	11: 41,967,623	V226A	probably damaging	Het
Gm5499	A	T	17: 87,078,516		noncoding transcript	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Irf2bp1	G	T	7: 19,005,247	E271*	probably null	Het
Krt86	T	G	15: 101,476,548	V274G	probably benign	Het
Lats2	A	T	14: 57,722,735	C151S	probably benign	Het
Mapk3	A	T	7: 126,764,807	T254S	probably benign	Het
Mat2b	A	T	11: 40,682,546	M202K	probably damaging	Het
Mos	A	G	4: 3,870,971	Y282H	probably benign	Het
Myo3b	A	G	2: 70,105,739	K108R	probably damaging	Het
Naa16	A	G	14: 79,355,780	Y417H	probably damaging	Het
Oat	A	T	7: 132,558,255	I412N	probably damaging	Het
Olfr1423	A	T	19: 12,035,908	I278N	probably damaging	Het
Pcdh1	A	T	18: 38,202,946	V73D	probably damaging	Het
Pigv	A	T	4: 133,664,823	Y345*	probably null	Het
Pitpnc1	G	T	11: 107,337,438	F34L	probably benign	Het
Plxnd1	A	G	6: 115,965,877	L1282P	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,763	D384G	probably benign	Het
Ppp2ca	G	A	11: 52,118,029	E119K	probably damaging	Het
Psg29	A	T	7: 17,210,534	N323I	probably damaging	Het
Rasa4	T	C	5: 136,093,162	V108A	probably benign	Het
Rbm14	A	G	19: 4,802,549		probably benign	Het
Rfc1	A	T	5: 65,277,452	V657E	probably damaging	Het
Rhcg	A	T	7: 79,600,623	N237K	probably damaging	Het
Rpgrip1	A	G	14: 52,160,160	Q1302R	probably benign	Het
Rragc	A	G	4: 123,924,852	M287V	possibly damaging	Het
Scn7a	A	G	2: 66,741,957		probably null	Het
Sema6a	C	T	18: 47,281,343	C506Y	probably damaging	Het
Senp1	G	T	15: 98,066,531	H267Q	possibly damaging	Het
Skor2	A	G	18: 76,858,883	E100G	unknown	Het
Slc38a11	A	T	2: 65,317,021	C371S	probably benign	Het
Snai3	G	A	8: 122,454,890	A276V	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Spag6	C	T	2: 18,715,714	T99I	probably benign	Het
Spop	A	G	11: 95,485,849	I243V	possibly damaging	Het
Sra1	A	T	18: 36,667,443		probably benign	Het
Stag3	T	A	5: 138,290,223	S140T	possibly damaging	Het
Stx16	G	A	2: 174,093,499	G156R	probably damaging	Het
Tbc1d2b	G	C	9: 90,207,872	A868G	probably benign	Het
Tead2	A	G	7: 45,220,742		probably benign	Het
Tmem53	C	A	4: 117,268,472	H261N	probably damaging	Het
Ube4a	A	T	9: 44,933,329	S932T	probably damaging	Het
Usp9y	A	T	Y: 1,381,339	D827E	probably damaging	Het
Vmn2r53	T	C	7: 12,600,806	E309G	probably damaging	Het
Wrn	T	C	8: 33,268,778	S1026G	probably benign	Het
Zfp646	G	A	7: 127,885,454	A1760T	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
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'- GGATGCATTAGTTGGCACCC -3'
(R):5'- TGAGAAGAGCCCAATAATCTACTCC -3'

Sequencing Primer
(F):5'- TTGGCACCCAACAAAGGATTTCTG -3'
(R):5'- GGCTCTTCACCCACAAAGG -3'

Posted On

2017-01-03