Incidental Mutation 'IGL01395:Calcrl'
ID79398
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 #IGL01395
Quality Score
Status
Chromosome2
Chromosomal Location84330626-84425411 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84368575 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 157 (I157V)
Ref Sequence ENSEMBL: ENSMUSP00000097527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074262] [ENSMUST00000099944]
Predicted Effect probably benign
Transcript: ENSMUST00000074262
AA Change: I157V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: I157V

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: I157V

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: I157V

DomainStartEndE-ValueType
HormR 60 135 1.4e-26 SMART
Pfam:7tm_2 137 379 3.2e-80 PFAM
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,442,810 R52H probably benign Het
Alg8 T A 7: 97,378,176 Y84N possibly damaging Het
B3gnt4 T A 5: 123,511,068 F165L probably damaging Het
Clpx T C 9: 65,301,851 S83P probably benign Het
Col7a1 G A 9: 108,983,912 probably benign Het
Cttn A G 7: 144,457,727 V115A probably damaging Het
Dcaf1 G A 9: 106,858,162 V770I possibly damaging Het
Ddx19a A G 8: 110,990,532 probably benign Het
Dennd6a T A 14: 26,616,901 Y175* probably null Het
Dhx58 C T 11: 100,703,926 G48D probably damaging Het
Dnah8 T A 17: 30,636,005 F178I probably benign Het
Eif5b T C 1: 38,037,258 I629T probably damaging Het
Frrs1 A G 3: 116,901,005 I492V probably benign Het
Gm16505 G A 13: 3,361,242 noncoding transcript Het
Golga4 G A 9: 118,535,373 G259D probably damaging Het
Gpatch8 T C 11: 102,480,708 H668R unknown Het
Gucy2c G T 6: 136,698,029 Q1019K probably damaging Het
Hivep2 T C 10: 14,132,800 probably null Het
Jph2 T C 2: 163,339,927 N439S probably benign Het
Knl1 T A 2: 119,071,566 D1249E probably damaging Het
Lrrc37a A G 11: 103,503,861 V246A probably benign Het
Mast1 T C 8: 84,912,815 D1295G possibly damaging Het
Mical2 T A 7: 112,323,585 M599K probably damaging Het
Nr3c2 T C 8: 76,908,848 S193P possibly damaging Het
Nr4a2 T A 2: 57,112,153 Q33L probably damaging Het
Nrap A T 19: 56,361,793 M514K probably damaging Het
Olfr1501 A T 19: 13,838,952 S74T probably damaging Het
Olfr198 T A 16: 59,202,097 T110S possibly damaging Het
Olfr412 T C 11: 74,364,887 F73L probably damaging Het
Pde5a T C 3: 122,817,955 I514T probably benign Het
Plxna4 A G 6: 32,239,433 V569A probably damaging Het
Ppm1k T C 6: 57,513,958 H324R probably benign Het
Prdm5 A G 6: 65,870,390 H155R possibly damaging Het
Prpf19 C T 19: 10,901,011 T287I probably damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Pygb C A 2: 150,801,583 Q97K probably benign Het
Rab27b T C 18: 69,985,217 K210E probably benign Het
Rttn T G 18: 89,129,770 N2182K possibly damaging Het
Rusc1 T C 3: 89,092,421 Q18R probably damaging Het
Stat4 C T 1: 52,011,874 R31W probably damaging Het
Tas2r135 T A 6: 42,405,912 C128* probably null Het
Tm9sf3 T C 19: 41,256,276 E54G probably damaging Het
Tmx1 A T 12: 70,460,477 probably null Het
Tnrc6c T A 11: 117,723,113 V859E probably benign Het
Uggt1 T C 1: 36,155,077 D1360G probably damaging Het
Other mutations in Calcrl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Calcrl APN 2 84370454 missense probably benign 0.05
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
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
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 On2013-11-05