Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02092:Cracr2b'

279457

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cracr2b

Ensembl Gene

ENSMUSG00000048200

Gene Name

calcium release activated channel regulator 2B

Synonyms

Efcab4a, 6330520A15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL02092

Quality Score

Status

Chromosome

Chromosomal Location

141041007-141046526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141044869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 201 (E201G)

Ref Sequence

ENSEMBL: ENSMUSP00000129946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026583] [ENSMUST00000053670] [ENSMUST00000058746] [ENSMUST00000064151] [ENSMUST00000106000] [ENSMUST00000167491] [ENSMUST00000170879] [ENSMUST00000209892] [ENSMUST00000165194] [ENSMUST00000177840] [ENSMUST00000164016] [ENSMUST00000164924] [ENSMUST00000172215] [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

possibly damaging
Transcript: ENSMUST00000053670
AA Change: E201G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200
AA Change: E201G

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: ENSMUST00000058746

SMART Domains

Protein: ENSMUSP00000061636
Gene: ENSMUSG00000025510

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	15	248	1.7e-58	PFAM

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

unknown
Transcript: ENSMUST00000167491
AA Change: E201G

SMART Domains

Protein: ENSMUSP00000127957
Gene: ENSMUSG00000048200
AA Change: E201G

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: E201G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129946
Gene: ENSMUSG00000048200
AA Change: E201G

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

noncoding transcript
Transcript: ENSMUST00000171994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163833

Predicted Effect

probably benign
Transcript: ENSMUST00000209892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167900

Predicted Effect

probably benign
Transcript: ENSMUST00000165194

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: 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: 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: ENSMUST00000172215

SMART Domains

Protein: ENSMUSP00000132793
Gene: ENSMUSG00000048200

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

noncoding transcript
Transcript: ENSMUST00000211564

Predicted Effect

probably benign
Transcript: ENSMUST00000211071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211522

Predicted Effect

probably benign
Transcript: ENSMUST00000209988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210058

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010H22Rik	T	A	5: 98,714,627 (GRCm39)		probably benign	Het
Birc7	A	T	2: 180,574,979 (GRCm39)	R238S	probably benign	Het
Cdc42bpg	C	A	19: 6,366,856 (GRCm39)		probably benign	Het
Ces3a	T	C	8: 105,776,962 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 46,211,137 (GRCm39)	F517S	probably damaging	Het
Cyth3	T	C	5: 143,693,140 (GRCm39)		probably benign	Het
Exoc2	A	T	13: 31,059,260 (GRCm39)	N611K	probably benign	Het
Fign	A	T	2: 63,810,927 (GRCm39)	N114K	possibly damaging	Het
Gabrb3	A	G	7: 57,415,334 (GRCm39)	T135A	probably damaging	Het
Htra3	T	C	5: 35,828,416 (GRCm39)	K155E	probably damaging	Het
Inpp5f	T	C	7: 128,286,948 (GRCm39)	L609S	probably damaging	Het
Kcp	C	A	6: 29,489,031 (GRCm39)		probably null	Het
Map4k4	A	G	1: 40,025,943 (GRCm39)	K311R	probably benign	Het
Map4k4	A	G	1: 40,063,508 (GRCm39)	K1228E	probably damaging	Het
Muc20	G	A	16: 32,614,642 (GRCm39)	S245F	probably damaging	Het
Or10ak8	A	G	4: 118,774,187 (GRCm39)	L159S	possibly damaging	Het
Or7g33	T	A	9: 19,449,046 (GRCm39)	Y60F	probably damaging	Het
Or8b36	T	G	9: 37,937,917 (GRCm39)	S272A	possibly damaging	Het
Pi4ka	A	G	16: 17,136,360 (GRCm39)	M892T	probably benign	Het
Ptpn22	A	G	3: 103,784,637 (GRCm39)	T234A	probably damaging	Het
Sema4g	G	A	19: 44,981,078 (GRCm39)		probably null	Het
Slc35a3	A	G	3: 116,474,781 (GRCm39)	S204P	probably damaging	Het
Speer4f2	C	T	5: 17,581,627 (GRCm39)	Q190*	probably null	Het
Szt2	A	G	4: 118,220,529 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,380,900 (GRCm39)	Y104H	probably damaging	Het
Trim23	A	G	13: 104,324,120 (GRCm39)	E173G	probably benign	Het
Trpm6	T	C	19: 18,749,695 (GRCm39)	I8T	possibly damaging	Het
Trpv1	T	A	11: 73,136,905 (GRCm39)		probably benign	Het
Ufsp2	T	C	8: 46,448,701 (GRCm39)		probably null	Het
Wwc2	T	C	8: 48,317,570 (GRCm39)	D669G	unknown	Het
Zfp940	T	C	7: 29,545,626 (GRCm39)	T94A	probably benign	Het
Zfp947	T	G	17: 22,366,477 (GRCm39)	D17A	probably damaging	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
R0009:Cracr2b	UTSW	7	141,043,672 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16