Mutagenetix > Incidental Mutation

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

045716-MU

Accession Numbers

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 (GRCm38)	F290S	probably benign	Het
4931414P19Rik	T	C	14: 54,585,666 (GRCm38)	D358G	probably damaging	Het
A630089N07Rik	T	A	16: 98,066,210 (GRCm38)	Q184L	probably damaging	Het
Adam10	A	G	9: 70,722,711 (GRCm38)	R142G	possibly damaging	Het
Adgrb1	A	G	15: 74,548,569 (GRCm38)	T856A	probably damaging	Het
Angel1	A	G	12: 86,717,736 (GRCm38)	S493P	probably benign	Het
Arid1b	C	G	17: 4,995,386 (GRCm38)	P150A	unknown	Het
Atp8b5	T	A	4: 43,370,823 (GRCm38)		probably null	Het
Cbfa2t3	T	G	8: 122,633,337 (GRCm38)	Q525P	possibly damaging	Het
Clip4	T	C	17: 71,834,273 (GRCm38)	Y541H	probably benign	Het
Dsp	G	T	13: 38,191,482 (GRCm38)	C1081F	probably damaging	Het
Dysf	A	G	6: 84,101,963 (GRCm38)	D708G	probably benign	Het
Eif3d	A	T	15: 77,961,686 (GRCm38)	D378E	probably damaging	Het
Etv1	T	A	12: 38,865,606 (GRCm38)	M424K	probably damaging	Het
Fam120b	T	G	17: 15,402,836 (GRCm38)	S359A	possibly damaging	Het
Ffar2	A	G	7: 30,819,932 (GRCm38)	L61P	probably damaging	Het
Grm5	A	T	7: 88,116,201 (GRCm38)	D879V	probably benign	Het
Itpr3	C	A	17: 27,088,977 (GRCm38)	A246E	probably damaging	Het
Kmt2b	G	T	7: 30,582,208 (GRCm38)	P1207Q	probably damaging	Het
Mamdc2	T	A	19: 23,350,804 (GRCm38)	Y400F	probably damaging	Het
Muc4	T	A	16: 32,752,361 (GRCm38)	Y746*	probably null	Het
Mylk	T	C	16: 34,879,557 (GRCm38)	F430S	probably damaging	Het
Nek10	G	A	14: 14,937,759 (GRCm38)	C826Y	probably benign	Het
Nf1	T	A	11: 79,384,266 (GRCm38)	F51Y	probably damaging	Het
Olfr1117-ps1	T	C	2: 87,285,273 (GRCm38)	*328Q	probably null	Het
Phf2	T	A	13: 48,807,607 (GRCm38)	Y869F	unknown	Het
Psmb7	T	C	2: 38,633,964 (GRCm38)	Y133C	possibly damaging	Het
Ptcd2	G	A	13: 99,344,699 (GRCm38)		probably benign	Het
Rictor	C	T	15: 6,772,154 (GRCm38)	S441L	probably benign	Het
Slbp	A	T	5: 33,643,866 (GRCm38)	I167N	probably damaging	Het
Slc2a2	A	G	3: 28,727,111 (GRCm38)	T433A	probably benign	Het
Snap91	T	A	9: 86,839,621 (GRCm38)	N55I	probably damaging	Het
Soga3	T	C	10: 29,146,578 (GRCm38)		probably benign	Het
Stat4	A	T	1: 52,013,878 (GRCm38)	K73*	probably null	Het
Sult2a5	G	A	7: 13,670,682 (GRCm38)	M281I	probably benign	Het
Tenm3	A	T	8: 48,341,049 (GRCm38)	M647K	possibly damaging	Het
Trim66	T	A	7: 109,483,749 (GRCm38)	D162V	probably damaging	Het
Vangl1	A	T	3: 102,184,065 (GRCm38)	I235N	probably damaging	Het
Vmn1r175	T	A	7: 23,808,606 (GRCm38)	I199F	possibly damaging	Het
Vmn1r72	A	G	7: 11,670,345 (GRCm38)	S59P	probably damaging	Het
Wdr25	G	A	12: 108,992,893 (GRCm38)	G344S	possibly damaging	Het
Zfand2a	A	T	5: 139,478,566 (GRCm38)	N61K	probably damaging	Het

Other mutations in Cracr2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02136:Cracr2a	APN	6	127,629,930 (GRCm38)	intron	probably benign
PIT4812001:Cracr2a	UTSW	6	127,625,870 (GRCm38)	missense	probably damaging	1.00
R0111:Cracr2a	UTSW	6	127,604,061 (GRCm38)	missense	probably benign	0.00
R0180:Cracr2a	UTSW	6	127,604,074 (GRCm38)	critical splice donor site	probably null
R1612:Cracr2a	UTSW	6	127,603,929 (GRCm38)	nonsense	probably null
R1929:Cracr2a	UTSW	6	127,607,298 (GRCm38)	missense	probably damaging	1.00
R2055:Cracr2a	UTSW	6	127,608,601 (GRCm38)	nonsense	probably null
R2270:Cracr2a	UTSW	6	127,607,298 (GRCm38)	missense	probably damaging	1.00
R2272:Cracr2a	UTSW	6	127,607,298 (GRCm38)	missense	probably damaging	1.00
R2915:Cracr2a	UTSW	6	127,611,505 (GRCm38)	missense	probably damaging	0.98
R4476:Cracr2a	UTSW	6	127,629,819 (GRCm38)	missense	probably benign	0.18
R4600:Cracr2a	UTSW	6	127,603,888 (GRCm38)	missense	probably benign	0.00
R4767:Cracr2a	UTSW	6	127,611,507 (GRCm38)	missense	probably damaging	0.98
R5256:Cracr2a	UTSW	6	127,604,029 (GRCm38)	missense	probably damaging	1.00
R5657:Cracr2a	UTSW	6	127,604,007 (GRCm38)	missense	probably damaging	1.00
R5729:Cracr2a	UTSW	6	127,607,236 (GRCm38)	missense	possibly damaging	0.88
R6437:Cracr2a	UTSW	6	127,631,831 (GRCm38)	missense	probably damaging	0.96
R6572:Cracr2a	UTSW	6	127,608,752 (GRCm38)	splice site	probably null
R6851:Cracr2a	UTSW	6	127,608,716 (GRCm38)	missense	probably damaging	1.00
R7177:Cracr2a	UTSW	6	127,608,706 (GRCm38)	missense	probably benign	0.00
R7809:Cracr2a	UTSW	6	127,649,962 (GRCm38)	missense	probably benign
R8030:Cracr2a	UTSW	6	127,611,423 (GRCm38)	missense	probably damaging	0.96
R8084:Cracr2a	UTSW	6	127,639,172 (GRCm38)	missense	probably benign	0.26
R8731:Cracr2a	UTSW	6	127,625,927 (GRCm38)	critical splice donor site	probably null
R8867:Cracr2a	UTSW	6	127,629,773 (GRCm38)	nonsense	probably null
Z1177:Cracr2a	UTSW	6	127,669,063 (GRCm38)	missense	probably damaging	1.00
Z1177:Cracr2a	UTSW	6	127,607,244 (GRCm38)	missense	probably benign	0.02

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