Mutagenetix > Incidental Mutations

Incidental Mutation 'R7616:Cracr2a'

588909

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 #

R7616 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127561338-127674248 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 127608697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 153 (Q153*)

Ref Sequence

ENSEMBL: ENSMUSP00000071494 (fasta)

Gene Model

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

AlphaFold

Q3UP38

Predicted Effect

probably null
Transcript: ENSMUST00000071563
AA Change: Q153*

SMART Domains

Protein: ENSMUSP00000071494
Gene: ENSMUSG00000061414
AA Change: Q153*

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: ENSMUST00000212051
AA Change: Q153*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	G	9: 55,989,454	F290S	probably benign	Het
4931414P19Rik	T	C	14: 54,585,666	D358G	probably damaging	Het
A630089N07Rik	T	A	16: 98,066,210	Q184L	probably damaging	Het
Adam10	A	G	9: 70,722,711	R142G	possibly damaging	Het
Adgrb1	A	G	15: 74,548,569	T856A	probably damaging	Het
Angel1	A	G	12: 86,717,736	S493P	probably benign	Het
Arid1b	C	G	17: 4,995,386	P150A	unknown	Het
Atp8b5	T	A	4: 43,370,823		probably null	Het
Cbfa2t3	T	G	8: 122,633,337	Q525P	possibly damaging	Het
Clip4	T	C	17: 71,834,273	Y541H	probably benign	Het
Dsp	G	T	13: 38,191,482	C1081F	probably damaging	Het
Dysf	A	G	6: 84,101,963	D708G	probably benign	Het
Eif3d	A	T	15: 77,961,686	D378E	probably damaging	Het
Etv1	T	A	12: 38,865,606	M424K	probably damaging	Het
Fam120b	T	G	17: 15,402,836	S359A	possibly damaging	Het
Ffar2	A	G	7: 30,819,932	L61P	probably damaging	Het
Grm5	A	T	7: 88,116,201	D879V	probably benign	Het
Itpr3	C	A	17: 27,088,977	A246E	probably damaging	Het
Kmt2b	G	T	7: 30,582,208	P1207Q	probably damaging	Het
Mamdc2	T	A	19: 23,350,804	Y400F	probably damaging	Het
Muc4	T	A	16: 32,752,361	Y746*	probably null	Het
Mylk	T	C	16: 34,879,557	F430S	probably damaging	Het
Nek10	G	A	14: 14,937,759	C826Y	probably benign	Het
Nf1	T	A	11: 79,384,266	F51Y	probably damaging	Het
Olfr1117-ps1	T	C	2: 87,285,273	*328Q	probably null	Het
Phf2	T	A	13: 48,807,607	Y869F	unknown	Het
Psmb7	T	C	2: 38,633,964	Y133C	possibly damaging	Het
Ptcd2	G	A	13: 99,344,699		probably benign	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Slbp	A	T	5: 33,643,866	I167N	probably damaging	Het
Slc2a2	A	G	3: 28,727,111	T433A	probably benign	Het
Snap91	T	A	9: 86,839,621	N55I	probably damaging	Het
Soga3	T	C	10: 29,146,578		probably benign	Het
Stat4	A	T	1: 52,013,878	K73*	probably null	Het
Sult2a5	G	A	7: 13,670,682	M281I	probably benign	Het
Tenm3	A	T	8: 48,341,049	M647K	possibly damaging	Het
Trim66	T	A	7: 109,483,749	D162V	probably damaging	Het
Vangl1	A	T	3: 102,184,065	I235N	probably damaging	Het
Vmn1r175	T	A	7: 23,808,606	I199F	possibly damaging	Het
Vmn1r72	A	G	7: 11,670,345	S59P	probably damaging	Het
Wdr25	G	A	12: 108,992,893	G344S	possibly damaging	Het
Zfand2a	A	T	5: 139,478,566	N61K	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
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
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'- AATGAATCCCTGAGACAGCGG -3'
(R):5'- TCCAAGCTGCCTCCAATGAG -3'

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

Posted On

2019-10-24