Incidental Mutation 'R3903:Calcrl'
ID 309255
Institutional Source Beutler Lab
Gene Symbol Calcrl
Ensembl Gene ENSMUSG00000059588
Gene Name calcitonin receptor-like
Synonyms CRLR
MMRRC Submission 040907-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3903 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 84160970-84255755 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 84198986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074262] [ENSMUST00000099944]
AlphaFold Q9R1W5
Predicted Effect probably benign
Transcript: ENSMUST00000074262
SMART Domains Protein: ENSMUSP00000073875
Gene: ENSMUSG00000059588

DomainStartEndE-ValueType
HormR 60 135 1.4e-26 SMART
Pfam:7tm_2 137 379 5.7e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099944
SMART Domains Protein: ENSMUSP00000097527
Gene: ENSMUSG00000059588

DomainStartEndE-ValueType
HormR 60 135 1.4e-26 SMART
Pfam:7tm_2 137 379 3.2e-80 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (32/32)
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
Amd1 C T 10: 40,166,453 (GRCm39) R210H probably benign Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Ap3m1 T C 14: 21,086,732 (GRCm39) Y185C probably null Het
Ccdc178 C T 18: 22,156,152 (GRCm39) V573I possibly damaging Het
Cdh6 T C 15: 13,042,661 (GRCm39) K499R probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col6a1 C T 10: 76,547,175 (GRCm39) R730H unknown Het
Cyp4f40 C A 17: 32,878,598 (GRCm39) R47S possibly damaging Het
Eif4a2 AG A 16: 22,929,390 (GRCm39) probably null Het
Fsip2l T C X: 47,930,421 (GRCm39) N649S possibly damaging Het
Gm8180 T A 14: 44,021,092 (GRCm39) R39W probably null Het
Golm1 T C 13: 59,786,154 (GRCm39) Q346R probably damaging Het
Grap T G 11: 61,551,151 (GRCm39) probably null Het
Hormad2 A G 11: 4,377,237 (GRCm39) probably benign Het
Hyal1 T C 9: 107,456,171 (GRCm39) probably null Het
Kif12 A G 4: 63,086,213 (GRCm39) V378A possibly damaging Het
Lrrk2 G A 15: 91,631,904 (GRCm39) S1276N probably damaging Het
Lrrk2 A T 15: 91,631,903 (GRCm39) S1276C probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or4f53 A T 2: 111,088,114 (GRCm39) Y218F probably damaging Het
Or7c70 T G 10: 78,683,132 (GRCm39) I206L probably benign Het
Or8c20 C T 9: 38,260,954 (GRCm39) Q186* probably null Het
Pabpc6 T C 17: 9,888,083 (GRCm39) E156G probably benign Het
Rorb A G 19: 18,939,463 (GRCm39) Y155H probably damaging Het
Samd9l T A 6: 3,376,830 (GRCm39) K144* probably null Het
Scn1a A G 2: 66,148,476 (GRCm39) I3T probably benign Het
Serpinb9 T C 13: 33,194,793 (GRCm39) M183T possibly damaging Het
Wnk1 A G 6: 119,926,012 (GRCm39) S1151P probably damaging Het
Xirp2 C T 2: 67,338,380 (GRCm39) T207I probably benign Het
Zfp39 T C 11: 58,781,001 (GRCm39) Y587C probably benign 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
R2763:Calcrl UTSW 2 84,200,847 (GRCm39) missense probably damaging 0.99
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'- GTCCTCACATGAGCTCACTATAAAC -3'
(R):5'- TGTCTCTGAGCCTCAAATTTGTG -3'

Sequencing Primer
(F):5'- CATAATCTGAATTCACCACAGTTGTC -3'
(R):5'- CTCTGAGCCTCAAATTTGTGAAAAG -3'
Posted On 2015-04-17