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)
|
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
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 |
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
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 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
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 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
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 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
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 |
|
Meta Mutation Damage Score |
0.7634 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |