Incidental Mutation 'IGL01773:Calcrl'
ID153717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calcrl
Ensembl Gene ENSMUSG00000059588
Gene Namecalcitonin receptor-like
SynonymsCRLR
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01773
Quality Score
Status
Chromosome2
Chromosomal Location84330626-84425411 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84370443 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 86 (Y86H)
Ref Sequence ENSEMBL: ENSMUSP00000097527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074262] [ENSMUST00000099944]
Predicted Effect probably benign
Transcript: ENSMUST00000074262
AA Change: Y86H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: Y86H

DomainStartEndE-ValueType
HormR 60 135 1.4e-26 SMART
Pfam:7tm_2 137 379 5.7e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099944
AA Change: Y86H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: Y86H

DomainStartEndE-ValueType
HormR 60 135 1.4e-26 SMART
Pfam:7tm_2 137 379 3.2e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151295
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in lethality between E13.5-E14.5, hydrops fetalis and cardiovascular defects such as thin vascular smooth muscle walls and small, disorganized hearts resulting from a decrease in cell proliferation and an increasein apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1s C A 1: 136,118,753 H1775Q probably benign Het
Ccdc63 T C 5: 122,113,145 K401E possibly damaging Het
Col9a1 A G 1: 24,205,066 T127A probably benign Het
Cpq T A 15: 33,212,850 F5Y probably benign Het
Cuzd1 T A 7: 131,314,885 M282L probably damaging Het
Ddx10 C A 9: 53,204,130 D635Y possibly damaging Het
Ect2l T C 10: 18,161,504 D382G probably damaging Het
Ganc T C 2: 120,459,884 S901P possibly damaging Het
Gpr179 G A 11: 97,341,366 R671C probably benign Het
Isl2 T C 9: 55,544,220 L219P probably damaging Het
Mfsd13a T C 19: 46,369,294 S296P possibly damaging Het
Mtmr7 A T 8: 40,581,419 L287Q probably damaging Het
Olfr1355 A G 10: 78,879,936 T255A possibly damaging Het
Olfr607 T G 7: 103,461,014 M60L possibly damaging Het
Olfr741 T C 14: 50,485,773 F105S probably damaging Het
Olfr945 A G 9: 39,258,534 I46T probably damaging Het
Pik3c3 T A 18: 30,277,102 F130I probably damaging Het
Rab3gap1 T A 1: 127,918,221 S277R possibly damaging Het
Rassf9 A G 10: 102,545,633 K290R probably benign Het
Rnaseh2a A T 8: 84,965,138 V136D probably damaging Het
Rnf39 C T 17: 36,945,436 S140L possibly damaging Het
Sbno2 A G 10: 80,057,831 V1212A probably damaging Het
Slc4a10 A T 2: 62,190,757 I50F probably damaging Het
Slfn5 A T 11: 82,961,331 E761V probably damaging Het
Sptlc1 A G 13: 53,377,298 Y18H probably damaging Het
Tfam A G 10: 71,236,975 M9T possibly damaging Het
Tmem186 A G 16: 8,635,977 L140P probably damaging Het
Try4 A T 6: 41,305,026 N182I probably damaging Het
Vmn1r209 C T 13: 22,806,280 C80Y probably damaging Het
Vmn2r104 A T 17: 20,040,668 S498T probably benign Het
Other mutations in Calcrl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Calcrl APN 2 84370454 missense probably benign 0.05
IGL01395:Calcrl APN 2 84368575 missense probably benign 0.25
IGL01672:Calcrl APN 2 84345070 missense probably damaging 1.00
IGL01738:Calcrl APN 2 84370449 missense probably benign 0.00
IGL02007:Calcrl APN 2 84375324 missense probably benign
IGL02254:Calcrl APN 2 84348208 missense probably damaging 1.00
IGL02887:Calcrl APN 2 84339242 missense probably benign 0.04
R0008:Calcrl UTSW 2 84373274 missense probably benign 0.04
R0008:Calcrl UTSW 2 84373274 missense probably benign 0.04
R0485:Calcrl UTSW 2 84370091 missense probably benign 0.01
R1579:Calcrl UTSW 2 84333537 missense probably benign 0.00
R1640:Calcrl UTSW 2 84333677 missense probably damaging 0.98
R1694:Calcrl UTSW 2 84339287 missense probably damaging 1.00
R1731:Calcrl UTSW 2 84345168 critical splice donor site probably null
R1779:Calcrl UTSW 2 84351285 missense probably damaging 1.00
R1992:Calcrl UTSW 2 84370511 missense probably damaging 0.98
R2262:Calcrl UTSW 2 84345173 missense probably damaging 1.00
R2763:Calcrl UTSW 2 84370503 missense probably damaging 0.99
R3903:Calcrl UTSW 2 84368642 splice site probably benign
R4838:Calcrl UTSW 2 84351205 missense probably damaging 0.99
R4901:Calcrl UTSW 2 84333513 missense probably benign 0.00
R4997:Calcrl UTSW 2 84351248 nonsense probably null
R4998:Calcrl UTSW 2 84339314 missense probably damaging 1.00
R5791:Calcrl UTSW 2 84351265 missense probably damaging 1.00
R5887:Calcrl UTSW 2 84370497 missense probably damaging 1.00
R6046:Calcrl UTSW 2 84375314 missense probably benign 0.00
R6207:Calcrl UTSW 2 84333530 missense probably benign 0.00
R6959:Calcrl UTSW 2 84370084 missense possibly damaging 0.76
R6972:Calcrl UTSW 2 84368578 missense probably benign
R7522:Calcrl UTSW 2 84373364 missense probably benign
R7653:Calcrl UTSW 2 84345185 nonsense probably null
R7911:Calcrl UTSW 2 84351231 missense probably damaging 1.00
R7992:Calcrl UTSW 2 84351231 missense probably damaging 1.00
R8082:Calcrl UTSW 2 84370442 missense possibly damaging 0.56
R8110:Calcrl UTSW 2 84339339 missense probably damaging 1.00
R8152:Calcrl UTSW 2 84339249 missense possibly damaging 0.63
Posted On2014-02-04