Incidental Mutation 'R5168:Calcr'
ID 470008
Institutional Source Beutler Lab
Gene Symbol Calcr
Ensembl Gene ENSMUSG00000023964
Gene Name calcitonin receptor
Synonyms Clr
MMRRC Submission 042748-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5168 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 3685680-3764714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3708610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 192 (N192S)
Ref Sequence ENSEMBL: ENSMUSP00000130083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075644] [ENSMUST00000115622] [ENSMUST00000168592] [ENSMUST00000170266] [ENSMUST00000171613]
AlphaFold Q60755
Predicted Effect probably benign
Transcript: ENSMUST00000075644
AA Change: N192S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964
AA Change: N192S

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: N192S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964
AA Change: N192S

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: N192S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964
AA Change: N192S

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: N192S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964
AA Change: N192S

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: N192S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964
AA Change: N192S

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 96% (47/49)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,086,070 (GRCm39) N478D probably benign Het
Acsl1 T A 8: 46,966,303 (GRCm39) probably benign Het
Aox1 T A 1: 58,088,561 (GRCm39) C116S probably damaging Het
Bag6 T C 17: 35,363,671 (GRCm39) L785P probably damaging Het
Cntrl T A 2: 35,047,667 (GRCm39) L1414H probably damaging Het
Cntrob T A 11: 69,190,816 (GRCm39) I849F possibly damaging Het
Col6a3 C T 1: 90,701,361 (GRCm39) W2518* probably null Het
Cxcl15 T A 5: 90,943,142 (GRCm39) I48K probably damaging Het
Dab2 T C 15: 6,365,924 (GRCm39) probably benign Het
Ddx54 A G 5: 120,755,097 (GRCm39) E82G probably benign Het
Dock1 T C 7: 134,720,637 (GRCm39) W1249R probably damaging Het
Fras1 A C 5: 96,856,616 (GRCm39) M2000L probably benign Het
Gpr31b A T 17: 13,270,326 (GRCm39) I281N probably damaging Het
Gvin3 T C 7: 106,196,054 (GRCm39) noncoding transcript Het
Haus5 T C 7: 30,357,136 (GRCm39) T432A possibly damaging Het
Hecw2 A G 1: 53,952,459 (GRCm39) S925P probably damaging Het
Katnal1 A G 5: 148,858,132 (GRCm39) M26T possibly damaging Het
Mccc1 C T 3: 36,044,929 (GRCm39) W71* probably null Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Nrbp1 T A 5: 31,407,481 (GRCm39) V397D probably damaging Het
Nt5dc1 T A 10: 34,273,236 (GRCm39) E187D probably benign Het
Or1e19 T A 11: 73,316,669 (GRCm39) I47F probably benign Het
Or51f23 C T 7: 102,453,528 (GRCm39) A281V probably benign Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Pramel27 T C 4: 143,579,768 (GRCm39) V451A probably benign Het
Ralgapa1 A G 12: 55,804,817 (GRCm39) V493A probably benign Het
Ryr2 T C 13: 11,767,207 (GRCm39) T1228A probably benign Het
Slc26a3 G A 12: 31,518,553 (GRCm39) V674I possibly damaging Het
Spata31f1a C T 4: 42,851,488 (GRCm39) V223I probably damaging Het
Srp68 C A 11: 116,156,300 (GRCm39) E147D probably damaging Het
Tacr3 T C 3: 134,535,320 (GRCm39) I96T probably damaging Het
Tmem236 T C 2: 14,197,139 (GRCm39) probably null Het
Tmem62 T A 2: 120,824,088 (GRCm39) N254K probably benign Het
Tmem79 A T 3: 88,240,651 (GRCm39) L99Q probably damaging Het
Trav6-5 A T 14: 53,728,973 (GRCm39) N78Y probably benign Het
Trim33 C T 3: 103,248,997 (GRCm39) Q807* probably null Het
Ugt1a10 A G 1: 87,983,531 (GRCm39) T110A probably benign Het
Vcl C T 14: 21,060,170 (GRCm39) T603I probably damaging Het
Vps8 A T 16: 21,276,195 (GRCm39) T243S probably damaging Het
Vps8 A C 16: 21,351,849 (GRCm39) I323L probably benign Het
Zfp746 G C 6: 48,041,329 (GRCm39) Q465E possibly 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
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
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'- CATGCTATCTTTAGGTACTGTGATC -3'
(R):5'- CCAGTACACACAAGGTAGGCAATG -3'

Sequencing Primer
(F):5'- TCAACCAGGTGGATGATG -3'
(R):5'- CACAAGGTAGGCAATGGTTTAGCC -3'
Posted On 2017-03-06