Incidental Mutation 'IGL02567:Calcr'
ID 298883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calcr
Ensembl Gene ENSMUSG00000023964
Gene Name calcitonin receptor
Synonyms Clr
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02567
Quality Score
Status
Chromosome 6
Chromosomal Location 3685680-3764714 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3691564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 404 (V404M)
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: V441M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964
AA Change: V441M

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 damaging
Transcript: ENSMUST00000115622
AA Change: V404M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964
AA Change: V404M

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: V404M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964
AA Change: V404M

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: V441M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964
AA Change: V441M

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: V404M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964
AA Change: V404M

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 C A 11: 53,263,578 (GRCm39) S199R possibly damaging Het
Ano1 A G 7: 144,165,362 (GRCm39) L621P probably damaging Het
Carmil3 A G 14: 55,736,339 (GRCm39) S635G possibly damaging Het
Ccl12 C A 11: 81,993,447 (GRCm39) S28R possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdhr3 T C 12: 33,088,900 (GRCm39) N761D probably benign Het
Col14a1 T C 15: 55,208,357 (GRCm39) probably null Het
Col28a1 T C 6: 8,014,819 (GRCm39) K862R possibly damaging Het
Cyp2c66 C T 19: 39,175,084 (GRCm39) probably benign Het
D5Ertd615e T C 5: 45,320,758 (GRCm39) noncoding transcript Het
Deup1 T C 9: 15,486,579 (GRCm39) E367G probably damaging Het
Dpp8 T G 9: 64,986,058 (GRCm39) Y849* probably null Het
Efhc1 T A 1: 21,043,188 (GRCm39) V369E probably damaging Het
Entrep2 T A 7: 64,436,479 (GRCm39) M101L possibly damaging Het
Epg5 A G 18: 78,076,288 (GRCm39) Y2562C probably damaging Het
Fbln5 A G 12: 101,728,059 (GRCm39) probably null Het
Frem1 A T 4: 82,918,292 (GRCm39) M551K probably damaging Het
Gba2 T C 4: 43,567,281 (GRCm39) S889G probably benign Het
Golph3 C T 15: 12,349,507 (GRCm39) R176* probably null Het
Got2 A T 8: 96,598,829 (GRCm39) F191Y probably benign Het
Gtf2ird2 G T 5: 134,241,890 (GRCm39) probably benign Het
H4c16 G A 6: 136,781,272 (GRCm39) R36W probably damaging Het
Hivep3 A G 4: 119,991,153 (GRCm39) T2218A probably damaging Het
Htr1f C T 16: 64,746,611 (GRCm39) G227D probably benign Het
Ifi202b C T 1: 173,791,370 (GRCm39) S436N possibly damaging Het
Nf1 T A 11: 79,437,969 (GRCm39) V2109D probably damaging Het
Opa1 C A 16: 29,407,104 (GRCm39) D29E probably benign Het
Papln C T 12: 83,825,611 (GRCm39) P631S probably benign Het
Pde4c T A 8: 71,200,570 (GRCm39) M352K probably benign Het
Pigu T C 2: 155,173,112 (GRCm39) T129A possibly damaging Het
Pla2g4c T A 7: 13,079,965 (GRCm39) H424Q probably damaging Het
Ptpn13 T G 5: 103,710,157 (GRCm39) L1564R probably damaging Het
Rbm5 T C 9: 107,621,473 (GRCm39) D642G probably damaging Het
Rnf111 T C 9: 70,366,287 (GRCm39) T384A probably damaging Het
Scn11a T C 9: 119,633,555 (GRCm39) T393A probably damaging Het
Sned1 A T 1: 93,202,069 (GRCm39) K619M probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Syt9 A G 7: 107,035,868 (GRCm39) Y295C probably damaging Het
Taar7f T A 10: 23,926,323 (GRCm39) Y306N probably damaging Het
Tmem107 T G 11: 68,961,845 (GRCm39) L25V possibly damaging Het
Wdr24 T G 17: 26,043,322 (GRCm39) I48S probably damaging Het
Zc3hc1 T C 6: 30,374,848 (GRCm39) D231G probably benign Het
Zfp142 T C 1: 74,617,309 (GRCm39) K341E possibly damaging Het
Zfp142 T A 1: 74,617,306 (GRCm39) S342C possibly damaging Het
Zfp142 T G 1: 74,617,308 (GRCm39) K341T possibly damaging Het
Zfp804b T A 5: 6,819,989 (GRCm39) I989L probably benign Het
Zfyve9 A C 4: 108,531,720 (GRCm39) V1095G 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
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
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
Posted On 2015-04-16