Incidental Mutation 'R0008:Calcrl'
ID 19151
Institutional Source Beutler Lab
Gene Symbol Calcrl
Ensembl Gene ENSMUSG00000059588
Gene Name calcitonin receptor-like
Synonyms CRLR
MMRRC Submission 038303-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0008 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 84160970-84255755 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84203618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 54 (D54G)
Ref Sequence ENSEMBL: ENSMUSP00000097527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074262] [ENSMUST00000099944]
AlphaFold Q9R1W5
Predicted Effect probably benign
Transcript: ENSMUST00000074262
AA Change: D54G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: D54G

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: D54G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: D54G

DomainStartEndE-ValueType
HormR 60 135 1.4e-26 SMART
Pfam:7tm_2 137 379 3.2e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151295
Meta Mutation Damage Score 0.0765 question?
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 72.4%
  • 10x: 49.2%
  • 20x: 28.4%
Validation Efficiency 90% (82/91)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,882,346 (GRCm39) K118R possibly damaging Het
Afap1l1 A G 18: 61,889,976 (GRCm39) S87P probably benign Het
Ankrd27 A G 7: 35,303,125 (GRCm39) K196R probably benign Het
Arrdc3 T A 13: 81,039,194 (GRCm39) I75N probably damaging Het
Cnot1 G T 8: 96,487,969 (GRCm39) D562E probably damaging Het
Cp T A 3: 20,022,287 (GRCm39) Y230N probably damaging Het
Dclre1c T C 2: 3,439,032 (GRCm39) V64A probably damaging Het
Fat2 A T 11: 55,202,075 (GRCm39) L333H probably damaging Het
Hoxc11 T C 15: 102,863,397 (GRCm39) V146A probably damaging Het
Il11 T C 7: 4,776,658 (GRCm39) S111G probably benign Het
Ist1 A T 8: 110,403,418 (GRCm39) I273K probably benign Het
Lrp2 T A 2: 69,346,895 (GRCm39) N784Y probably benign Het
Lrp6 T C 6: 134,462,716 (GRCm39) E648G probably damaging Het
Mtbp T A 15: 55,449,889 (GRCm39) probably benign Het
Nat9 A T 11: 115,075,941 (GRCm39) Y27N probably damaging Het
Nipsnap3b T A 4: 53,015,112 (GRCm39) L53Q probably damaging Het
Nlrp3 A T 11: 59,449,274 (GRCm39) H852L probably benign Het
Pax9 A G 12: 56,756,528 (GRCm39) T289A probably benign Het
Pcyt2 A T 11: 120,506,695 (GRCm39) I53N possibly damaging Het
Pdzph1 T A 17: 59,229,756 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,704 (GRCm39) probably benign Het
Ppt1 T C 4: 122,742,216 (GRCm39) probably benign Het
Prep T C 10: 44,991,174 (GRCm39) V280A probably benign Het
Proser3 G A 7: 30,239,563 (GRCm39) R514C probably damaging Het
Rbm45 T C 2: 76,208,742 (GRCm39) Y293H probably damaging Het
Sdk2 A G 11: 113,747,581 (GRCm39) L643P probably damaging Het
Slc1a1 G A 19: 28,878,884 (GRCm39) G208S probably benign Het
Slc35b4 A T 6: 34,135,452 (GRCm39) Y287N probably damaging Het
Srgap2 T C 1: 131,283,302 (GRCm39) T260A probably damaging Het
Taf5 A G 19: 47,064,301 (GRCm39) S415G possibly damaging Het
Tdp2 T G 13: 25,025,333 (GRCm39) probably null Het
Tnrc6a G A 7: 122,769,617 (GRCm39) R469H probably benign Het
Tox T A 4: 6,842,411 (GRCm39) M40L probably benign Het
Trib2 A T 12: 15,859,930 (GRCm39) H110Q probably benign Het
Trpa1 A G 1: 14,973,439 (GRCm39) I293T possibly damaging Het
Wdr93 A G 7: 79,408,221 (GRCm39) E234G probably damaging Het
Zfp385b A T 2: 77,246,291 (GRCm39) S245R probably benign Het
Zfyve9 T A 4: 108,575,902 (GRCm39) E393V possibly damaging Het
Other mutations in Calcrl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Calcrl APN 2 84,200,798 (GRCm39) missense probably benign 0.05
IGL01395:Calcrl APN 2 84,198,919 (GRCm39) missense probably benign 0.25
IGL01672:Calcrl APN 2 84,175,414 (GRCm39) missense probably damaging 1.00
IGL01738:Calcrl APN 2 84,200,793 (GRCm39) missense probably benign 0.00
IGL01773:Calcrl APN 2 84,200,787 (GRCm39) missense probably benign
IGL02007:Calcrl APN 2 84,205,668 (GRCm39) missense probably benign
IGL02254:Calcrl APN 2 84,178,552 (GRCm39) missense probably damaging 1.00
IGL02887:Calcrl APN 2 84,169,586 (GRCm39) missense probably benign 0.04
R0008:Calcrl UTSW 2 84,203,618 (GRCm39) missense probably benign 0.04
R0485:Calcrl UTSW 2 84,200,435 (GRCm39) missense probably benign 0.01
R1579:Calcrl UTSW 2 84,163,881 (GRCm39) missense probably benign 0.00
R1640:Calcrl UTSW 2 84,164,021 (GRCm39) missense probably damaging 0.98
R1694:Calcrl UTSW 2 84,169,631 (GRCm39) missense probably damaging 1.00
R1731:Calcrl UTSW 2 84,175,512 (GRCm39) critical splice donor site probably null
R1779:Calcrl UTSW 2 84,181,629 (GRCm39) missense probably damaging 1.00
R1992:Calcrl UTSW 2 84,200,855 (GRCm39) missense probably damaging 0.98
R2262:Calcrl UTSW 2 84,175,517 (GRCm39) missense probably damaging 1.00
R2763:Calcrl UTSW 2 84,200,847 (GRCm39) missense probably damaging 0.99
R3903:Calcrl UTSW 2 84,198,986 (GRCm39) splice site probably benign
R4838:Calcrl UTSW 2 84,181,549 (GRCm39) missense probably damaging 0.99
R4901:Calcrl UTSW 2 84,163,857 (GRCm39) missense probably benign 0.00
R4997:Calcrl UTSW 2 84,181,592 (GRCm39) nonsense probably null
R4998:Calcrl UTSW 2 84,169,658 (GRCm39) missense probably damaging 1.00
R5791:Calcrl UTSW 2 84,181,609 (GRCm39) missense probably damaging 1.00
R5887:Calcrl UTSW 2 84,200,841 (GRCm39) missense probably damaging 1.00
R6046:Calcrl UTSW 2 84,205,658 (GRCm39) missense probably benign 0.00
R6207:Calcrl UTSW 2 84,163,874 (GRCm39) missense probably benign 0.00
R6959:Calcrl UTSW 2 84,200,428 (GRCm39) missense possibly damaging 0.76
R6972:Calcrl UTSW 2 84,198,922 (GRCm39) missense probably benign
R7522:Calcrl UTSW 2 84,203,708 (GRCm39) missense probably benign
R7653:Calcrl UTSW 2 84,175,529 (GRCm39) nonsense probably null
R7911:Calcrl UTSW 2 84,181,575 (GRCm39) missense probably damaging 1.00
R8082:Calcrl UTSW 2 84,200,786 (GRCm39) missense possibly damaging 0.56
R8110:Calcrl UTSW 2 84,169,683 (GRCm39) missense probably damaging 1.00
R8152:Calcrl UTSW 2 84,169,593 (GRCm39) missense possibly damaging 0.63
R8753:Calcrl UTSW 2 84,178,661 (GRCm39) missense probably benign 0.02
R8753:Calcrl UTSW 2 84,178,659 (GRCm39) missense probably benign 0.11
R8903:Calcrl UTSW 2 84,203,729 (GRCm39) critical splice acceptor site probably null
R9265:Calcrl UTSW 2 84,200,400 (GRCm39) missense possibly damaging 0.93
R9276:Calcrl UTSW 2 84,205,643 (GRCm39) missense probably benign
R9773:Calcrl UTSW 2 84,200,462 (GRCm39) missense probably benign 0.00
Posted On 2013-03-25