Incidental Mutation 'R0111:Calcr'
ID 20447
Institutional Source Beutler Lab
Gene Symbol Calcr
Ensembl Gene ENSMUSG00000023964
Gene Name calcitonin receptor
Synonyms Clr
MMRRC Submission 038397-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0111 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 6
Chromosomal Location 3685680-3764714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3717157 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 101 (D101V)
Ref Sequence ENSEMBL: ENSMUSP00000130083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075644] [ENSMUST00000115622] [ENSMUST00000168592] [ENSMUST00000170266] [ENSMUST00000171613]
AlphaFold Q60755
Predicted Effect probably damaging
Transcript: ENSMUST00000075644
AA Change: D101V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964
AA Change: D101V

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 noncoding transcript
Transcript: ENSMUST00000093599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102402
Predicted Effect probably damaging
Transcript: ENSMUST00000115622
AA Change: D101V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964
AA Change: D101V

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 damaging
Transcript: ENSMUST00000168592
AA Change: D101V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964
AA Change: D101V

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 damaging
Transcript: ENSMUST00000170266
AA Change: D101V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964
AA Change: D101V

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 damaging
Transcript: ENSMUST00000171613
AA Change: D101V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964
AA Change: D101V

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
Meta Mutation Damage Score 0.7634 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.8%
Validation Efficiency 100% (65/65)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A T 17: 56,124,073 (GRCm39) H491L possibly damaging Het
Adgrg3 T C 8: 95,761,738 (GRCm39) probably benign Het
Arhgap5 T C 12: 52,606,743 (GRCm39) probably benign Het
Asic1 T C 15: 99,594,864 (GRCm39) Y334H probably damaging Het
Cdh2 A T 18: 16,907,566 (GRCm39) N57K probably benign Het
Clec4d C A 6: 123,245,006 (GRCm39) Y95* probably null Het
Cracr2a A G 6: 127,581,024 (GRCm39) T67A probably benign Het
Dennd5a A T 7: 109,533,961 (GRCm39) V53D probably damaging Het
Dnah7a T C 1: 53,507,843 (GRCm39) D3076G probably benign Het
Espnl T C 1: 91,272,464 (GRCm39) M608T probably benign Het
Fam149a C T 8: 45,794,183 (GRCm39) probably benign Het
Flnc T C 6: 29,454,339 (GRCm39) V1884A probably damaging Het
Helz2 A C 2: 180,879,595 (GRCm39) S674R probably benign Het
Hoxa2 T G 6: 52,141,467 (GRCm39) probably null Het
Ifi47 T A 11: 48,986,897 (GRCm39) N221K probably damaging Het
Ipo9 A G 1: 135,333,662 (GRCm39) V340A probably damaging Het
Kalrn A T 16: 33,851,960 (GRCm39) N373K probably damaging Het
Kif26a T C 12: 112,129,771 (GRCm39) probably benign Het
Kiss1r A G 10: 79,754,523 (GRCm39) T6A possibly damaging Het
Lama1 A T 17: 68,044,493 (GRCm39) I131F probably damaging Het
Nefm T C 14: 68,361,991 (GRCm39) D91G probably benign Het
Nos3 C T 5: 24,577,702 (GRCm39) T572I probably damaging Het
Notch2 T C 3: 98,046,077 (GRCm39) F1710L probably benign Het
Or13e8 T C 4: 43,696,648 (GRCm39) N175S probably damaging Het
Or6c6c T A 10: 129,541,146 (GRCm39) I133N probably damaging Het
Ostm1 T C 10: 42,555,254 (GRCm39) L92P probably damaging Het
Pcdh15 T A 10: 74,462,651 (GRCm39) Y1445* probably null Het
Pde1b T C 15: 103,411,940 (GRCm39) S14P probably benign Het
Pitpna T C 11: 75,516,310 (GRCm39) V265A probably benign Het
Plec G T 15: 76,062,846 (GRCm39) T2476K probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Ppp3cc C T 14: 70,493,808 (GRCm39) probably null Het
Prss36 A G 7: 127,533,717 (GRCm39) L530P probably damaging Het
Ptpn13 T C 5: 103,728,629 (GRCm39) probably benign Het
Ptpn23 T C 9: 110,214,691 (GRCm39) D1570G probably damaging Het
Rab42 T C 4: 132,029,676 (GRCm39) D182G possibly damaging Het
Rbm27 T A 18: 42,438,737 (GRCm39) probably benign Het
Rp1 T C 1: 4,414,983 (GRCm39) E2043G probably damaging Het
Rufy3 C T 5: 88,778,443 (GRCm39) S341F probably damaging Het
Samd9l C T 6: 3,374,946 (GRCm39) V772I possibly damaging Het
Scaper A G 9: 55,510,074 (GRCm39) M654T probably benign Het
Shld2 T C 14: 33,989,686 (GRCm39) K407E probably damaging Het
Sipa1l3 G A 7: 29,047,743 (GRCm39) P333S probably damaging Het
Slc30a10 C A 1: 185,187,744 (GRCm39) R162S probably benign Het
Spryd3 A T 15: 102,036,972 (GRCm39) probably null Het
Tas2r110 T C 6: 132,845,166 (GRCm39) F66L probably benign Het
Tent5c T C 3: 100,380,102 (GRCm39) D218G probably damaging Het
Thap2 T C 10: 115,208,532 (GRCm39) N196S probably benign Het
Themis2 C A 4: 132,517,236 (GRCm39) R88L probably benign Het
Trip12 A T 1: 84,736,854 (GRCm39) probably benign Het
Ube3b T A 5: 114,528,437 (GRCm39) probably benign Het
Usp20 T A 2: 30,892,624 (GRCm39) H64Q probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r15 T C 5: 109,435,022 (GRCm39) R561G possibly damaging Het
Vsig10l A G 7: 43,117,525 (GRCm39) D604G probably damaging Het
Wdr90 A G 17: 26,067,418 (GRCm39) probably benign Het
Xirp2 A T 2: 67,338,722 (GRCm39) N321I probably damaging Het
Zfp595 A G 13: 67,468,984 (GRCm39) F11S possibly damaging Het
Zfp953 T A 13: 67,491,139 (GRCm39) H271L probably damaging 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
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
R5688:Calcr UTSW 6 3,714,730 (GRCm39) splice site probably null
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'- ACGTGTGTGACAGGATCAAGCC -3'
(R):5'- AAGCCCAACTTTGGAGCCTCTTAC -3'

Sequencing Primer
(F):5'- GATGTTCAGTGTAACACGTCTC -3'
(R):5'- agaaaaaaaaaaagaaTGAGAACGGC -3'
Posted On 2013-04-11