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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |