Incidental Mutation 'R5688:Calcr'
ID 443490
Institutional Source Beutler Lab
Gene Symbol Calcr
Ensembl Gene ENSMUSG00000023964
Gene Name calcitonin receptor
Synonyms Clr
MMRRC Submission 043321-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5688 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 3685680-3764714 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 3714730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075644] [ENSMUST00000115622] [ENSMUST00000168592] [ENSMUST00000170266] [ENSMUST00000171613]
AlphaFold Q60755
Predicted Effect probably null
Transcript: ENSMUST00000075644
SMART Domains Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
HormR 85 160 4.33e-32 SMART
Pfam:7tm_2 162 441 5.2e-85 PFAM
Pfam:Dicty_CAR 259 410 5e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000115622
SMART Domains Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
HormR 85 160 4.33e-32 SMART
Pfam:7tm_2 162 404 1.1e-85 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000168592
SMART Domains Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
HormR 85 160 4.33e-32 SMART
Pfam:7tm_2 162 404 1.1e-85 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170266
SMART Domains Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
HormR 85 160 4.33e-32 SMART
Pfam:7tm_2 162 441 2.2e-84 PFAM
Pfam:Dicty_CAR 257 399 2.5e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171396
Predicted Effect probably null
Transcript: ENSMUST00000171613
SMART Domains Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
HormR 85 160 4.33e-32 SMART
Pfam:7tm_2 162 404 1.1e-85 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Haploinsufficiency may result in increased bone density due to increased bone formation. Homozygous inactivation may result in embryonic lethality. Mice homozygous for another disruption allele at this locus show a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,315,920 (GRCm39) A222V probably benign Het
Ahnak A G 19: 8,979,883 (GRCm39) D389G probably benign Het
Aldh1l2 A T 10: 83,337,789 (GRCm39) S559T possibly damaging Het
Alms1 T A 6: 85,576,877 (GRCm39) N144K possibly damaging Het
Anp32b T A 4: 46,469,868 (GRCm39) probably null Het
Atf7 C T 15: 102,459,944 (GRCm39) R57H probably damaging Het
Atp10b A T 11: 43,092,000 (GRCm39) H345L probably benign Het
Cacna2d1 A T 5: 16,563,950 (GRCm39) I859F probably damaging Het
Cd248 A G 19: 5,119,963 (GRCm39) T604A probably benign Het
Cemip C T 7: 83,610,849 (GRCm39) V702M probably damaging Het
Cep295 G T 9: 15,243,282 (GRCm39) Q469K probably damaging Het
Cntn5 A G 9: 9,748,427 (GRCm39) W485R probably damaging Het
Cpe T C 8: 65,062,189 (GRCm39) N289S possibly damaging Het
Cyp2j11 G A 4: 96,233,358 (GRCm39) R113C probably damaging Het
Dcp1b T C 6: 119,194,872 (GRCm39) S531P probably benign Het
Defb7 T G 8: 19,545,167 (GRCm39) L15R probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Ednrb T C 14: 104,060,831 (GRCm39) D198G probably damaging Het
Engase A C 11: 118,378,146 (GRCm39) E312A possibly damaging Het
Evl G A 12: 108,639,612 (GRCm39) probably null Het
Faf1 C A 4: 109,652,010 (GRCm39) Q234K probably damaging Het
Garre1 T A 7: 33,953,416 (GRCm39) T449S possibly damaging Het
Garre1 T G 7: 33,984,134 (GRCm39) D163A probably damaging Het
Gm5460 C A 14: 33,767,752 (GRCm39) N453K possibly damaging Het
Gm7356 T A 17: 14,220,869 (GRCm39) I387F possibly damaging Het
H1f2 A G 13: 23,923,148 (GRCm39) K106R probably damaging Het
Hagh T C 17: 25,069,568 (GRCm39) M1T probably null Het
Hars1 A T 18: 36,905,369 (GRCm39) V155E probably damaging Het
Lca5 C A 9: 83,280,619 (GRCm39) D394Y probably benign Het
Lmtk3 T C 7: 45,440,834 (GRCm39) L280P probably damaging Het
Lrit1 C T 14: 36,784,385 (GRCm39) A571V possibly damaging Het
Map4k2 C A 19: 6,396,836 (GRCm39) P584H probably damaging Het
Mgst1 T C 6: 138,118,798 (GRCm39) probably benign Het
Mtrex A T 13: 113,009,590 (GRCm39) C936* probably null Het
Neb C T 2: 52,086,339 (GRCm39) V5245I probably damaging Het
Oas3 T C 5: 120,896,867 (GRCm39) N918S probably benign Het
Or4c106 C T 2: 88,683,023 (GRCm39) T243I probably benign Het
Or5d16 T A 2: 87,773,552 (GRCm39) Q140L probably benign Het
Or8b8 A C 9: 37,809,359 (GRCm39) I220L possibly damaging Het
Ovch2 A G 7: 107,393,201 (GRCm39) L224P probably damaging Het
Patj A T 4: 98,409,047 (GRCm39) K34* probably null Het
Pcf11 T A 7: 92,308,016 (GRCm39) R717S possibly damaging Het
Plcb1 A T 2: 135,177,400 (GRCm39) E577D probably benign Het
Plxnb2 T C 15: 89,042,899 (GRCm39) K1497E probably damaging Het
Pyroxd1 C A 6: 142,299,266 (GRCm39) L141I probably damaging Het
Rhobtb3 G T 13: 76,020,537 (GRCm39) N588K probably benign Het
Rnasel G A 1: 153,629,452 (GRCm39) probably benign Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Shank1 A T 7: 44,003,911 (GRCm39) I1868F possibly damaging Het
Slc28a3 A T 13: 58,706,463 (GRCm39) S593T probably damaging Het
Slc29a4 T C 5: 142,699,853 (GRCm39) I168T possibly damaging Het
Slc35f5 C T 1: 125,518,775 (GRCm39) P502L probably benign Het
Slco6d1 T C 1: 98,408,493 (GRCm39) I463T probably damaging Het
Slk A G 19: 47,608,451 (GRCm39) D468G probably benign Het
Spata31d1d G T 13: 59,874,322 (GRCm39) P1071Q probably damaging Het
Tert G A 13: 73,787,275 (GRCm39) V754I probably damaging Het
Thada T C 17: 84,759,155 (GRCm39) T235A probably benign Het
Ttn T C 2: 76,564,472 (GRCm39) D28555G probably damaging Het
Ttn T A 2: 76,710,328 (GRCm39) probably null Het
Ubqln4 T C 3: 88,472,575 (GRCm39) L464P probably damaging Het
Unc45b A T 11: 82,813,643 (GRCm39) N350I possibly damaging Het
Vmn2r65 T C 7: 84,589,900 (GRCm39) D672G probably benign Het
Zfp947 T A 17: 22,365,066 (GRCm39) I203L probably benign Het
Zfp964 T A 8: 70,116,766 (GRCm39) H454Q probably benign Het
Other mutations in Calcr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Calcr APN 6 3,717,196 (GRCm39) missense probably damaging 1.00
IGL01146:Calcr APN 6 3,700,144 (GRCm39) missense possibly damaging 0.88
IGL02253:Calcr APN 6 3,707,523 (GRCm39) missense probably benign 0.12
IGL02567:Calcr APN 6 3,691,564 (GRCm39) missense probably damaging 1.00
IGL02729:Calcr APN 6 3,707,595 (GRCm39) missense probably benign
IGL03062:Calcr APN 6 3,693,718 (GRCm39) missense probably benign 0.08
R0111:Calcr UTSW 6 3,717,157 (GRCm39) missense probably damaging 1.00
R0561:Calcr UTSW 6 3,692,630 (GRCm39) missense probably damaging 0.99
R1013:Calcr UTSW 6 3,692,621 (GRCm39) missense probably damaging 1.00
R1628:Calcr UTSW 6 3,700,251 (GRCm39) missense possibly damaging 0.53
R2152:Calcr UTSW 6 3,687,615 (GRCm39) missense probably benign 0.03
R2206:Calcr UTSW 6 3,717,133 (GRCm39) missense probably damaging 0.98
R2207:Calcr UTSW 6 3,717,133 (GRCm39) missense probably damaging 0.98
R3403:Calcr UTSW 6 3,687,604 (GRCm39) missense probably benign 0.04
R3781:Calcr UTSW 6 3,700,193 (GRCm39) missense possibly damaging 0.93
R3782:Calcr UTSW 6 3,700,193 (GRCm39) missense possibly damaging 0.93
R3851:Calcr UTSW 6 3,693,735 (GRCm39) missense probably damaging 1.00
R3852:Calcr UTSW 6 3,693,735 (GRCm39) missense probably damaging 1.00
R4190:Calcr UTSW 6 3,717,106 (GRCm39) missense possibly damaging 0.82
R4387:Calcr UTSW 6 3,707,581 (GRCm39) missense probably damaging 0.98
R4402:Calcr UTSW 6 3,708,484 (GRCm39) critical splice donor site probably null
R4403:Calcr UTSW 6 3,708,484 (GRCm39) critical splice donor site probably null
R4494:Calcr UTSW 6 3,708,484 (GRCm39) critical splice donor site probably null
R4495:Calcr UTSW 6 3,708,484 (GRCm39) critical splice donor site probably null
R4745:Calcr UTSW 6 3,692,576 (GRCm39) missense probably damaging 0.99
R4857:Calcr UTSW 6 3,708,511 (GRCm39) missense probably benign 0.29
R4883:Calcr UTSW 6 3,714,705 (GRCm39) missense probably damaging 1.00
R5168:Calcr UTSW 6 3,708,610 (GRCm39) missense probably benign 0.00
R5375:Calcr UTSW 6 3,714,651 (GRCm39) missense probably benign 0.00
R5643:Calcr UTSW 6 3,708,538 (GRCm39) missense probably damaging 1.00
R5644:Calcr UTSW 6 3,708,538 (GRCm39) missense probably damaging 1.00
R5799:Calcr UTSW 6 3,707,592 (GRCm39) missense probably benign 0.13
R5920:Calcr UTSW 6 3,722,994 (GRCm39) missense probably damaging 0.97
R6249:Calcr UTSW 6 3,692,711 (GRCm39) missense possibly damaging 0.49
R6329:Calcr UTSW 6 3,687,621 (GRCm39) missense probably damaging 1.00
R6357:Calcr UTSW 6 3,714,710 (GRCm39) missense probably benign 0.00
R6365:Calcr UTSW 6 3,711,455 (GRCm39) missense probably benign 0.00
R6393:Calcr UTSW 6 3,708,586 (GRCm39) missense probably damaging 1.00
R6547:Calcr UTSW 6 3,717,177 (GRCm39) missense probably damaging 1.00
R7034:Calcr UTSW 6 3,692,543 (GRCm39) missense probably damaging 1.00
R7208:Calcr UTSW 6 3,687,612 (GRCm39) missense probably benign 0.00
R7342:Calcr UTSW 6 3,691,536 (GRCm39) missense probably benign 0.03
R7430:Calcr UTSW 6 3,708,586 (GRCm39) missense probably damaging 1.00
R7601:Calcr UTSW 6 3,687,603 (GRCm39) missense probably benign 0.05
R7853:Calcr UTSW 6 3,707,499 (GRCm39) missense probably benign
R8084:Calcr UTSW 6 3,687,615 (GRCm39) missense probably benign 0.00
R8181:Calcr UTSW 6 3,693,899 (GRCm39) missense probably benign 0.16
R8559:Calcr UTSW 6 3,692,603 (GRCm39) missense probably damaging 1.00
R8726:Calcr UTSW 6 3,707,489 (GRCm39) intron probably benign
R9183:Calcr UTSW 6 3,711,463 (GRCm39) missense probably damaging 1.00
R9356:Calcr UTSW 6 3,687,408 (GRCm39) missense probably benign 0.41
R9716:Calcr UTSW 6 3,687,468 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- ATACGCTTCAGAAACCCTATTTCC -3'
(R):5'- TCTGAGAAGCCCAACACTTG -3'

Sequencing Primer
(F):5'- TTTTTGTGATTTGGGGTAGCAG -3'
(R):5'- GGAATCTCTCTTTCAGCCTTAAATG -3'
Posted On 2016-11-09