Incidental Mutation 'R7342:Calcr'
ID 569931
Institutional Source Beutler Lab
Gene Symbol Calcr
Ensembl Gene ENSMUSG00000023964
Gene Name calcitonin receptor
Synonyms Clr
MMRRC Submission 045432-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7342 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 3685680-3764714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3691536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 450 (H450L)
Ref Sequence ENSEMBL: ENSMUSP00000075070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075644] [ENSMUST00000115622] [ENSMUST00000168592] [ENSMUST00000170266] [ENSMUST00000171613]
AlphaFold Q60755
Predicted Effect probably benign
Transcript: ENSMUST00000075644
AA Change: H450L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964
AA Change: H450L

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 benign
Transcript: ENSMUST00000115622
AA Change: H413L

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964
AA Change: H413L

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 benign
Transcript: ENSMUST00000168592
AA Change: H413L

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964
AA Change: H413L

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 benign
Transcript: ENSMUST00000170266
AA Change: H450L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964
AA Change: H450L

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 benign
Transcript: ENSMUST00000171613
AA Change: H413L

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964
AA Change: H413L

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 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T G 11: 101,308,018 (GRCm39) T28P probably benign Het
Abcc1 C A 16: 14,283,033 (GRCm39) R1170S probably damaging Het
Adam8 T C 7: 139,566,304 (GRCm39) N568S probably benign Het
Arhgap17 T C 7: 122,926,467 (GRCm39) R65G probably damaging Het
Arid4b A C 13: 14,310,804 (GRCm39) I136L probably benign Het
Ash1l G T 3: 88,873,304 (GRCm39) G29V possibly damaging Het
Atp6v0a2 A G 5: 124,784,676 (GRCm39) T320A probably damaging Het
B4gat1 G A 19: 5,089,686 (GRCm39) V228M probably benign Het
Cand1 A T 10: 119,047,692 (GRCm39) N599K possibly damaging Het
Cblif A T 19: 11,740,587 (GRCm39) H407L probably benign Het
Cel A T 2: 28,450,649 (GRCm39) Y125* probably null Het
Cfi T A 3: 129,668,781 (GRCm39) N602K probably damaging Het
Clstn1 G A 4: 149,713,887 (GRCm39) A190T probably damaging Het
Cmklr1 C T 5: 113,752,354 (GRCm39) V216M probably benign Het
Cntnap5a A G 1: 115,987,852 (GRCm39) T128A probably benign Het
Creld2 A G 15: 88,710,610 (GRCm39) T342A probably benign Het
Ctbp2 T C 7: 132,616,041 (GRCm39) E298G probably damaging Het
Ctsh A T 9: 89,957,040 (GRCm39) E307V probably benign Het
Cxcl10 T A 5: 92,496,029 (GRCm39) D36V probably benign Het
Dgkb A G 12: 38,150,432 (GRCm39) T73A probably benign Het
Dnah3 T G 7: 119,629,208 (GRCm39) E1449A probably damaging Het
Dpp6 T C 5: 27,919,552 (GRCm39) M683T probably benign Het
Foxn4 C A 5: 114,396,760 (GRCm39) W241L probably damaging Het
Gosr1 T C 11: 76,621,033 (GRCm39) I219V probably benign Het
Gtf2f2 T C 14: 76,144,317 (GRCm39) D179G probably damaging Het
Ighg2b A G 12: 113,270,050 (GRCm39) Y323H Het
Itpr2 A T 6: 146,228,685 (GRCm39) H1303Q probably damaging Het
Kif1b A C 4: 149,298,547 (GRCm39) Y1040D possibly damaging Het
Lbr C T 1: 181,653,186 (GRCm39) probably null Het
Lrp2 A G 2: 69,309,634 (GRCm39) V2755A possibly damaging Het
Lrp6 G T 6: 134,427,781 (GRCm39) P1604T probably damaging Het
Lrrcc1 T A 3: 14,619,431 (GRCm39) C606S probably benign Het
Macf1 T C 4: 123,275,917 (GRCm39) E6217G probably damaging Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Myo9b T C 8: 71,808,418 (GRCm39) V1687A probably damaging Het
Naip2 A T 13: 100,325,864 (GRCm39) F15I probably benign Het
Neb A T 2: 52,171,679 (GRCm39) S1605T probably damaging Het
Nuak1 T C 10: 84,210,831 (GRCm39) E419G probably damaging Het
Or14a260 G A 7: 85,985,295 (GRCm39) T103I probably benign Het
Or8c18 A G 9: 38,203,574 (GRCm39) Y111C probably damaging Het
Paip2b T A 6: 83,791,808 (GRCm39) S25C probably damaging Het
Pgbd5 G A 8: 125,160,709 (GRCm39) R53C probably benign Het
Plin4 T C 17: 56,411,608 (GRCm39) T808A probably benign Het
Pramel11 A T 4: 143,623,520 (GRCm39) I218K probably benign Het
Prex2 A G 1: 11,232,549 (GRCm39) D872G probably benign Het
Ptf1a A G 2: 19,451,977 (GRCm39) *325W probably null Het
Ptprg T C 14: 12,237,151 (GRCm38) V1390A possibly damaging Het
Rhpn2 A G 7: 35,033,771 (GRCm39) T2A probably damaging Het
Rpl18a T C 8: 71,348,042 (GRCm39) N214D unknown Het
Scp2 T A 4: 107,948,518 (GRCm39) Y197F probably benign Het
Sftpb G A 6: 72,286,858 (GRCm39) R254H probably benign Het
Slc17a9 T C 2: 180,378,555 (GRCm39) L246P probably damaging Het
Slc38a9 G T 13: 112,806,125 (GRCm39) probably benign Het
Slc4a1ap C T 5: 31,693,634 (GRCm39) L523F possibly damaging Het
Spats2l C A 1: 57,925,106 (GRCm39) T168K possibly damaging Het
Sstr1 A G 12: 58,260,456 (GRCm39) S360G possibly damaging Het
Taf1b A T 12: 24,608,343 (GRCm39) K581* probably null Het
Tfip11 T A 5: 112,475,838 (GRCm39) M1K probably null Het
Tgoln1 G C 6: 72,593,261 (GRCm39) T73R probably benign Het
Ttc23l G A 15: 10,551,583 (GRCm39) H48Y probably benign Het
Uggt2 T A 14: 119,232,384 (GRCm39) H1489L possibly damaging Het
Unc13b T C 4: 43,258,703 (GRCm39) L1346P probably damaging Het
Vmac T C 17: 57,022,644 (GRCm39) E122G probably benign Het
Vmn2r125 T C 4: 156,703,138 (GRCm39) V172A probably damaging Het
Zfp54 A G 17: 21,648,014 (GRCm39) 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
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
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'- CCATAGGTGAGTGTGATTCTGC -3'
(R):5'- GTATGAGCTTAAGCAAGACCCC -3'

Sequencing Primer
(F):5'- CTGCTTGAGGTAGTGGGATAACC -3'
(R):5'- TTCAGGCTTCTGAGAGACATAG -3'
Posted On 2019-09-13