Mutagenetix > Incidental Mutation

Incidental Mutation 'R0009:Cracr2b'

8090

Institutional Source

Beutler Lab

Gene Symbol

Cracr2b

Ensembl Gene

ENSMUSG00000048200

Gene Name

calcium release activated channel regulator 2B

Synonyms

Efcab4a, 6330520A15Rik

MMRRC Submission

038304-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R0009 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

141041007-141046526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141043672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 91 (L91Q)

Ref Sequence

ENSEMBL: ENSMUSP00000132793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026583] [ENSMUST00000053670] [ENSMUST00000064151] [ENSMUST00000106000] [ENSMUST00000172215] [ENSMUST00000167491] [ENSMUST00000170879] [ENSMUST00000209892] [ENSMUST00000164924] [ENSMUST00000165194] [ENSMUST00000169665] [ENSMUST00000164016] [ENSMUST00000177840] [ENSMUST00000211071] [ENSMUST00000209988]

AlphaFold

Q80ZJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000026583

SMART Domains

Protein: ENSMUSP00000026583
Gene: ENSMUSG00000025509

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	69	4.5e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000053670
AA Change: L91Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200
AA Change: L91Q

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	312	N/A	INTRINSIC
low complexity region	324	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064151

SMART Domains

Protein: ENSMUSP00000065116
Gene: ENSMUSG00000025509

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	179	1.8e-15	PFAM
low complexity region	409	425	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097947

Predicted Effect

probably benign
Transcript: ENSMUST00000106000

SMART Domains

Protein: ENSMUSP00000101622
Gene: ENSMUSG00000025510

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	15	248	1.5e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163674

Predicted Effect

probably damaging
Transcript: ENSMUST00000172215
AA Change: L91Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132793
Gene: ENSMUSG00000048200
AA Change: L91Q

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167491
AA Change: L91Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127957
Gene: ENSMUSG00000048200
AA Change: L91Q

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	219	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170879
AA Change: L91Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129946
Gene: ENSMUSG00000048200
AA Change: L91Q

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	219	N/A	INTRINSIC
low complexity region	236	249	N/A	INTRINSIC
low complexity region	275	287	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209698

Predicted Effect

probably benign
Transcript: ENSMUST00000164924

SMART Domains

Protein: ENSMUSP00000129632
Gene: ENSMUSG00000025509

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	69	4.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165194

Predicted Effect

probably benign
Transcript: ENSMUST00000169665

SMART Domains

Protein: ENSMUSP00000127983
Gene: ENSMUSG00000025509

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	249	3.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164016

SMART Domains

Protein: ENSMUSP00000127149
Gene: ENSMUSG00000025509

Domain	Start	End	E-Value	Type
Pfam:Patatin	10	179	3.3e-15	PFAM
low complexity region	243	287	N/A	INTRINSIC
low complexity region	465	481	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177840

SMART Domains

Protein: ENSMUSP00000136331
Gene: ENSMUSG00000025510

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	15	248	1.5e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211522

Predicted Effect

probably benign
Transcript: ENSMUST00000209988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211564

Meta Mutation Damage Score

0.8826

Coding Region Coverage

1x: 79.7%
3x: 70.1%
10x: 44.5%
20x: 24.1%

Validation Efficiency

93% (78/84)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,791,482 (GRCm39)		probably benign	Het
Afm	C	A	5: 90,693,243 (GRCm39)		probably benign	Het
Aplnr	T	A	2: 84,967,620 (GRCm39)		probably null	Het
Arih2	T	A	9: 108,488,926 (GRCm39)	H264L	probably damaging	Het
Ccdc116	T	C	16: 16,961,903 (GRCm39)	E15G	probably damaging	Het
Cfap53	A	G	18: 74,432,247 (GRCm39)	H45R	probably benign	Het
Chd3	A	G	11: 69,240,732 (GRCm39)	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,443,918 (GRCm39)	Q457*	probably null	Het
Coro1a	A	T	7: 126,300,585 (GRCm39)		probably benign	Het
Ctdspl	T	C	9: 118,849,114 (GRCm39)		probably null	Het
Dnase1	T	C	16: 3,856,810 (GRCm39)	V147A	probably damaging	Het
Glud1	G	A	14: 34,056,225 (GRCm39)	G300S	probably benign	Het
Gm4847	C	T	1: 166,458,055 (GRCm39)	V433I	probably benign	Het
Herc2	T	C	7: 55,857,560 (GRCm39)	S4048P	probably benign	Het
Hp1bp3	T	A	4: 137,948,994 (GRCm39)	I19K	probably benign	Het
Il1a	C	T	2: 129,150,994 (GRCm39)	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,500,206 (GRCm39)	N39I	probably damaging	Het
Magi2	A	T	5: 20,816,053 (GRCm39)	Y747F	probably benign	Het
Mcc	C	T	18: 44,579,000 (GRCm39)	E803K	probably damaging	Het
Rims2	T	A	15: 39,398,362 (GRCm39)	M1087K	probably damaging	Het
Riox2	C	A	16: 59,309,730 (GRCm39)	D361E	probably benign	Het
Slc35e1	A	T	8: 73,238,553 (GRCm39)	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,802,762 (GRCm39)	E604V	probably benign	Het
Tbx19	A	T	1: 164,988,089 (GRCm39)	S15T	possibly damaging	Het
Tm4sf5	C	T	11: 70,401,538 (GRCm39)	A179V	probably damaging	Het
Trappc11	A	T	8: 47,956,355 (GRCm39)	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,891,810 (GRCm39)	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,150,692 (GRCm39)	C505S	probably damaging	Het
Xpo5	T	C	17: 46,515,712 (GRCm39)		probably benign	Het

Other mutations in Cracr2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Cracr2b	APN	7	141,045,670 (GRCm39)	unclassified	probably benign
IGL02092:Cracr2b	APN	7	141,044,869 (GRCm39)	missense	probably damaging	0.96
R0009:Cracr2b	UTSW	7	141,043,672 (GRCm39)	missense	probably damaging	1.00
R0324:Cracr2b	UTSW	7	141,043,659 (GRCm39)	missense	probably damaging	1.00
R0453:Cracr2b	UTSW	7	141,044,176 (GRCm39)	missense	probably damaging	0.96
R0569:Cracr2b	UTSW	7	141,044,848 (GRCm39)	unclassified	probably benign
R1386:Cracr2b	UTSW	7	141,043,481 (GRCm39)	missense	probably damaging	1.00
R2061:Cracr2b	UTSW	7	141,045,193 (GRCm39)	missense	probably damaging	0.96
R3605:Cracr2b	UTSW	7	141,046,059 (GRCm39)	missense	possibly damaging	0.93
R3607:Cracr2b	UTSW	7	141,046,059 (GRCm39)	missense	possibly damaging	0.93
R4674:Cracr2b	UTSW	7	141,043,451 (GRCm39)	missense	probably damaging	0.98
R4675:Cracr2b	UTSW	7	141,043,451 (GRCm39)	missense	probably damaging	0.98
R5401:Cracr2b	UTSW	7	141,046,136 (GRCm39)	makesense	probably null
R6174:Cracr2b	UTSW	7	141,044,749 (GRCm39)	missense	probably damaging	1.00
R7127:Cracr2b	UTSW	7	141,045,695 (GRCm39)	missense	possibly damaging	0.73
R7132:Cracr2b	UTSW	7	141,043,651 (GRCm39)	missense	probably benign	0.30
R7303:Cracr2b	UTSW	7	141,043,115 (GRCm39)	unclassified	probably benign
R7448:Cracr2b	UTSW	7	141,044,118 (GRCm39)	missense	probably benign	0.26
R7965:Cracr2b	UTSW	7	141,044,161 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-11-20