Incidental Mutation 'IGL02007:Calcrl'
ID182250
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 #IGL02007
Quality Score
Status
Chromosome2
Chromosomal Location84330626-84425411 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84375324 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 8 (C8R)
Ref Sequence ENSEMBL: ENSMUSP00000097527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074262] [ENSMUST00000099944]
Predicted Effect probably benign
Transcript: ENSMUST00000074262
AA Change: C8R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: C8R

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: C8R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: C8R

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 C A 14: 68,633,219 R335L possibly damaging Het
Adgrv1 T C 13: 81,568,743 probably benign Het
Cntn4 T A 6: 106,655,529 S505T probably benign Het
Cyp3a16 T C 5: 145,441,948 probably benign Het
Fam160a1 G T 3: 85,722,445 P280T probably damaging Het
Gm11127 G T 17: 36,056,330 N333K possibly damaging Het
Gpatch11 A G 17: 78,842,164 T198A probably benign Het
Heatr5a C A 12: 51,916,158 L986F probably damaging Het
Ift172 A G 5: 31,286,604 I90T probably benign Het
Igkv3-9 A G 6: 70,588,461 probably benign Het
Iqsec1 G A 6: 90,690,349 P369S probably benign Het
Myh1 C A 11: 67,220,556 T1607K probably benign Het
Myo18b T C 5: 112,874,972 probably benign Het
Nobox A G 6: 43,307,538 L58P probably damaging Het
Nwd2 T A 5: 63,804,699 I542N possibly damaging Het
Olfr1301 A G 2: 111,754,479 T77A probably damaging Het
Olfr474 A G 7: 107,954,746 Y35C probably damaging Het
Osm C T 11: 4,239,470 R85W probably damaging Het
Pcdh20 T C 14: 88,469,595 R90G probably benign Het
Pkhd1l1 T C 15: 44,533,733 probably benign Het
Sec14l2 A G 11: 4,111,114 S116P probably benign Het
Selenbp2 A C 3: 94,698,154 N96H possibly damaging Het
Smarcal1 T C 1: 72,595,940 S393P probably damaging Het
Tbc1d1 A G 5: 64,256,992 Q103R probably damaging Het
Tmem63c T C 12: 87,072,873 Y314H probably damaging Het
Wdr34 A G 2: 30,038,390 S75P probably benign Het
Zfp663 A C 2: 165,359,073 S14A probably benign Het
Zmynd10 A G 9: 107,550,532 N345S probably damaging 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
IGL01773:Calcrl APN 2 84370443 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
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 On2014-05-07