Mutagenetix > Incidental Mutations

Incidental Mutation 'R8867:Cracr2a'

676010

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 #

R8867 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127561338-127674248 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 127629773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 260 (L260*)

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: L260*

SMART Domains

Protein: ENSMUSP00000071494
Gene: ENSMUSG00000061414
AA Change: L260*

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: L260*

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (78/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	G	A	4: 73,942,850	S171F	probably damaging	Het
A130010J15Rik	T	C	1: 193,175,098	S253P	probably damaging	Het
Acbd5	T	C	2: 23,080,358	M97T	possibly damaging	Het
Aire	T	C	10: 78,037,975	E300G	probably damaging	Het
Ano1	A	G	7: 144,669,660	S99P	possibly damaging	Het
Ap5z1	A	G	5: 142,477,256	N732D	probably benign	Het
Apcs	A	T	1: 172,894,437	L114Q	possibly damaging	Het
Apmap	T	C	2: 150,589,966		probably benign	Het
Asxl3	C	A	18: 22,516,490	T512N	possibly damaging	Het
Atp1a4	T	C	1: 172,244,924	T388A	probably damaging	Het
Bcl2a1a	A	T	9: 88,957,450	I134L	probably damaging	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Cmbl	C	A	15: 31,581,927	H23Q	probably benign	Het
Cnnm2	T	A	19: 46,762,557	I262N	probably damaging	Het
Col6a3	C	T	1: 90,787,951	R2260H	unknown	Het
Csmd2	A	G	4: 128,557,676	Y3409C		Het
Cyp4b1	C	T	4: 115,635,972	R225H	possibly damaging	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
Dnah6	A	G	6: 73,021,148	L4097P	probably damaging	Het
Dpcr1	A	T	17: 35,637,980	F242L	probably benign	Het
Dppa3	G	A	6: 122,628,643	R52Q	probably benign	Het
Fbxo31	C	T	8: 121,555,228	R311H	probably benign	Het
Fhad1	T	C	4: 141,929,574	R90G	probably damaging	Het
Fitm2	A	T	2: 163,469,682	W204R	possibly damaging	Het
Gatb	T	A	3: 85,604,409	L157H	probably damaging	Het
Gm34653	A	G	2: 34,838,624	D145G	probably damaging	Het
Gm5111	G	A	6: 48,589,695		probably null	Het
Gm7298	A	C	6: 121,771,829	I688L	probably benign	Het
Hecw1	T	C	13: 14,247,690		probably null	Het
Ift122	T	A	6: 115,880,671	V126E	probably damaging	Het
Iqcf6	A	T	9: 106,627,499	I121F	possibly damaging	Het
Kif21a	A	G	15: 90,968,179	V902A	probably damaging	Het
Klhl38	T	C	15: 58,315,039	M512V	probably benign	Het
Klk1b1	A	C	7: 43,970,323	N102T	probably damaging	Het
Lama4	T	A	10: 39,048,000	L468Q	probably damaging	Het
Lilra5	A	T	7: 4,238,166	Q34L	possibly damaging	Het
Lrrc7	T	A	3: 158,161,884	D740V	probably damaging	Het
Mapk7	G	T	11: 61,493,806	P25T	probably benign	Het
Mcm3ap	C	A	10: 76,470,704	A217D	probably benign	Het
Ncaph2	A	G	15: 89,370,402	E406G	probably benign	Het
Ncor2	T	C	5: 125,102,675	I69V	unknown	Het
Nfatc3	A	G	8: 106,079,008	S170G	probably damaging	Het
Nptn	G	A	9: 58,618,981	R137Q	probably damaging	Het
Nsd1	A	T	13: 55,282,757	K1581N	probably damaging	Het
Olfr1105	G	T	2: 87,033,459	T254K	probably damaging	Het
Olfr224	A	G	11: 58,566,736	L203P	probably damaging	Het
Olfr357	T	C	2: 36,997,679	Y290H	probably damaging	Het
Olfr597	T	A	7: 103,321,242	L277Q		Het
Olfr630	G	A	7: 103,754,686	Q300*	probably null	Het
Olfr801	A	T	10: 129,669,759	C253*	probably null	Het
Park2	A	G	17: 11,237,561	T91A	probably benign	Het
Pdcl	T	C	2: 37,352,336	E134G	probably damaging	Het
Pikfyve	T	A	1: 65,244,417	Y738N	probably damaging	Het
Pkd1	A	G	17: 24,573,833	D1498G	probably damaging	Het
Plxna1	T	C	6: 89,333,097	N1029D	probably benign	Het
Ppp3cb	C	A	14: 20,546,449		probably benign	Het
Rgs18	T	A	1: 144,753,960	D187V	probably damaging	Het
Ripor2	C	T	13: 24,638,777		probably benign	Het
Rnf165	T	C	18: 77,475,486	E159G	possibly damaging	Het
Rpl3l	G	A	17: 24,735,481	G172D	probably damaging	Het
Sdf4	A	G	4: 156,009,302	T298A	probably damaging	Het
Slc17a3	T	C	13: 23,855,960	V327A		Het
Slc4a1ap	T	A	5: 31,550,715	F677L	probably benign	Het
Stoml2	A	G	4: 43,028,256	V324A	probably benign	Het
Syne2	A	G	12: 75,942,846	Q1833R	probably damaging	Het
Syt6	A	G	3: 103,627,055	N481D	possibly damaging	Het
Tert	T	C	13: 73,628,447	M439T	probably benign	Het
Thsd7a	A	T	6: 12,338,687	D1181E		Het
Tln2	G	A	9: 67,330,550	T33I	probably damaging	Het
Top3a	A	G	11: 60,742,655	S872P	probably benign	Het
Trim10	T	C	17: 36,870,156	L93P	probably benign	Het
Trpc7	C	T	13: 56,860,933	S307N	probably benign	Het
Ttc37	C	T	13: 76,131,309	S620L	probably damaging	Het
Ttn	A	T	2: 76,810,083	V13727E	probably damaging	Het
Vmn1r220	T	C	13: 23,184,101	S142G	probably benign	Het
Vmn1r32	A	G	6: 66,553,667	S42P	probably damaging	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zfp683	C	T	4: 134,058,684	T374I	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
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
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'- AGCACATCTCAGAGCACTAATTTG -3'
(R):5'- ACAGGTCTTCTCAGGGCAAG -3'

Sequencing Primer
(F):5'- AAGTGGGTCACTGAATCCTG -3'
(R):5'- GGTCTTCTCAGGGCAAGTTAAAAATC -3'

Posted On

2021-07-15