Incidental Mutation 'IGL00519:Cracr2b'
ID 5092
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: 0.071) question?
Stock # IGL00519
Quality Score
Status
Chromosome 7
Chromosomal Location 141041007-141046526 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 141045670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053670] [ENSMUST00000058746] [ENSMUST00000106000] [ENSMUST00000170879] [ENSMUST00000209988] [ENSMUST00000209892] [ENSMUST00000177840] [ENSMUST00000167491] [ENSMUST00000172215] [ENSMUST00000165194] [ENSMUST00000211071]
AlphaFold Q80ZJ8
Predicted Effect probably benign
Transcript: ENSMUST00000053670
SMART Domains Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Tetraspannin 15 248 1.7e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097947
Predicted Effect probably benign
Transcript: ENSMUST00000106000
SMART Domains Protein: ENSMUSP00000101622
Gene: ENSMUSG00000025510

DomainStartEndE-ValueType
Pfam:Tetraspannin 15 248 1.5e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163674
Predicted Effect probably benign
Transcript: ENSMUST00000170879
SMART Domains Protein: ENSMUSP00000129946
Gene: ENSMUSG00000048200

DomainStartEndE-ValueType
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: ENSMUST00000167900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167572
Predicted Effect probably benign
Transcript: ENSMUST00000209988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209698
Predicted Effect probably benign
Transcript: ENSMUST00000209892
Predicted Effect probably benign
Transcript: ENSMUST00000177840
SMART Domains Protein: ENSMUSP00000136331
Gene: ENSMUSG00000025510

DomainStartEndE-ValueType
Pfam:Tetraspannin 15 248 1.5e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167491
SMART Domains Protein: ENSMUSP00000127957
Gene: ENSMUSG00000048200

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000172215
SMART Domains Protein: ENSMUSP00000132793
Gene: ENSMUSG00000048200

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000165194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210058
Predicted Effect probably benign
Transcript: ENSMUST00000211071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211522
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211564
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,022,562 (GRCm39) N309K probably damaging Het
Asap1 G A 15: 63,982,791 (GRCm39) P846S probably damaging Het
Atg10 A G 13: 91,302,330 (GRCm39) probably benign Het
Cdk18 C A 1: 132,043,226 (GRCm39) R433L probably benign Het
Celsr1 A G 15: 85,915,037 (GRCm39) Y979H probably damaging Het
Csmd2 T C 4: 128,377,266 (GRCm39) F2049L probably benign Het
Cubn T C 2: 13,287,730 (GRCm39) N3450D probably benign Het
Dmrt1 T C 19: 25,580,638 (GRCm39) L350P probably damaging Het
Dnah5 A T 15: 28,444,364 (GRCm39) D4054V probably benign Het
Dpp8 A T 9: 64,985,290 (GRCm39) T783S probably damaging Het
Enpp3 T C 10: 24,663,670 (GRCm39) T564A probably benign Het
Exoc6b T C 6: 84,966,435 (GRCm39) K180E probably benign Het
Faf1 T A 4: 109,697,578 (GRCm39) F301L probably benign Het
Fbxo7 A T 10: 85,864,928 (GRCm39) E77V probably damaging Het
Gabpa T G 16: 84,657,489 (GRCm39) *455G probably null Het
Hexim2 A T 11: 103,024,905 (GRCm39) M1L probably benign Het
Lrrc24 T A 15: 76,602,263 (GRCm39) N164I probably damaging Het
Lrrc8b G A 5: 105,629,591 (GRCm39) A646T possibly damaging Het
Mansc1 T A 6: 134,587,769 (GRCm39) Q136L possibly damaging Het
Mlxip T A 5: 123,585,268 (GRCm39) V592E probably benign Het
Ncor2 T C 5: 125,161,988 (GRCm39) T429A unknown Het
Tbcd A G 11: 121,466,147 (GRCm39) N591S probably damaging Het
Tenm4 T C 7: 96,454,345 (GRCm39) probably benign Het
Uri1 A G 7: 37,660,978 (GRCm39) S522P probably damaging Het
Ush2a C T 1: 188,176,865 (GRCm39) S1343L probably benign Het
Other mutations in Cracr2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20