Incidental Mutation 'R2763:Calcrl'
ID 254136
Institutional Source Beutler Lab
Gene Symbol Calcrl
Ensembl Gene ENSMUSG00000059588
Gene Name calcitonin receptor-like
Synonyms CRLR
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2763 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 84160970-84255755 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84200847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 66 (R66G)
Ref Sequence ENSEMBL: ENSMUSP00000097527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074262] [ENSMUST00000099944]
AlphaFold Q9R1W5
Predicted Effect probably damaging
Transcript: ENSMUST00000074262
AA Change: R66G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588
AA Change: R66G

DomainStartEndE-ValueType
HormR 60 135 1.4e-26 SMART
Pfam:7tm_2 137 379 5.7e-80 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099944
AA Change: R66G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588
AA Change: R66G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T A 15: 83,111,871 (GRCm39) D304V probably benign Het
Ablim3 T A 18: 61,946,615 (GRCm39) K516* probably null Het
Akap11 A G 14: 78,756,332 (GRCm39) F22S probably damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Ano7 A G 1: 93,326,908 (GRCm39) probably null Het
Apol9a T C 15: 77,288,617 (GRCm39) E250G probably benign Het
Camta2 G A 11: 70,573,356 (GRCm39) Q187* probably null Het
Cd177 G A 7: 24,457,462 (GRCm39) A193V probably benign Het
Cdk5rap2 A G 4: 70,199,508 (GRCm39) V872A probably benign Het
Cebpz A G 17: 79,243,358 (GRCm39) S99P probably benign Het
Cmtr1 G A 17: 29,899,602 (GRCm39) E632K possibly damaging Het
Dysf A T 6: 84,083,914 (GRCm39) H782L probably benign Het
Fem1a A G 17: 56,564,537 (GRCm39) E210G probably benign Het
Golga3 T C 5: 110,352,761 (GRCm39) I884T possibly damaging Het
Gstm6 G A 3: 107,848,358 (GRCm39) T173M possibly damaging Het
Pcdhgb8 T A 18: 37,895,315 (GRCm39) N128K probably damaging Het
Phkg2 A G 7: 127,179,005 (GRCm39) E139G probably benign Het
Sdk1 T A 5: 142,070,306 (GRCm39) V1157E possibly damaging Het
Septin9 C T 11: 117,217,327 (GRCm39) T6I probably benign Het
Shkbp1 T A 7: 27,046,454 (GRCm39) M437L probably benign Het
Svep1 A G 4: 58,084,061 (GRCm39) C1904R possibly damaging Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Zfp646 T A 7: 127,479,210 (GRCm39) C242* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- GAGGCTATTTTGTGACAAGTTCC -3'
(R):5'- CTTTCCAGCAAGGCACTGAG -3'

Sequencing Primer
(F):5'- GGCTATTTTGTGACAAGTTCCAAATG -3'
(R):5'- AGGCACTGAGAAGCCTTCCTTAG -3'
Posted On 2014-12-04