Incidental Mutation 'R5920:Calcr'
| ID |
461517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calcr
|
| Ensembl Gene |
ENSMUSG00000023964 |
| Gene Name |
calcitonin receptor |
| Synonyms |
Clr |
| MMRRC Submission |
044117-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5920 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
3685680-3764714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3722994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 11
(R11W)
|
| 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: R11W
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964
AA Change: R11W
| 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: R11W
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964
AA Change: R11W
| 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: R11W
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964
AA Change: R11W
| 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: R11W
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964
AA Change: R11W
| 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: R11W
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964
AA Change: R11W
| 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: 99.8%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.4%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,164,091 (GRCm39) |
K31E |
probably damaging |
Het |
| Ak9 |
T |
A |
10: 41,296,672 (GRCm39) |
C1473S |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,088,631 (GRCm39) |
L139S |
probably damaging |
Het |
| Arhgap45 |
T |
A |
10: 79,864,965 (GRCm39) |
V849D |
possibly damaging |
Het |
| Atp13a1 |
G |
A |
8: 70,252,746 (GRCm39) |
E689K |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,641,853 (GRCm39) |
L710Q |
probably null |
Het |
| Cenpc1 |
T |
A |
5: 86,168,769 (GRCm39) |
T743S |
probably benign |
Het |
| Cfap43 |
A |
G |
19: 47,749,335 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Chd2 |
A |
G |
7: 73,187,060 (GRCm39) |
L33P |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,133,985 (GRCm39) |
G889C |
probably damaging |
Het |
| Cracdl |
T |
A |
1: 37,677,062 (GRCm39) |
K40M |
probably damaging |
Het |
| Dbh |
T |
C |
2: 27,067,243 (GRCm39) |
|
probably benign |
Het |
| Dcdc2c |
T |
C |
12: 28,585,536 (GRCm39) |
I154V |
possibly damaging |
Het |
| Eif2b5 |
G |
T |
16: 20,317,694 (GRCm39) |
A11S |
unknown |
Het |
| Frmd4a |
T |
G |
2: 4,337,927 (GRCm39) |
N44K |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,818,852 (GRCm39) |
Q4862* |
probably null |
Het |
| Hectd4 |
C |
T |
5: 121,446,334 (GRCm39) |
T1513I |
possibly damaging |
Het |
| Hspg2 |
A |
T |
4: 137,281,093 (GRCm39) |
D3355V |
probably damaging |
Het |
| Ift56 |
A |
G |
6: 38,389,005 (GRCm39) |
Y430C |
probably damaging |
Het |
| Il16 |
G |
A |
7: 83,301,552 (GRCm39) |
T190I |
probably benign |
Het |
| Immt |
T |
A |
6: 71,840,180 (GRCm39) |
V319D |
probably benign |
Het |
| Kdm2b |
G |
C |
5: 123,018,359 (GRCm39) |
S989W |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,704,440 (GRCm39) |
E1211G |
possibly damaging |
Het |
| Ktn1 |
G |
T |
14: 47,961,481 (GRCm39) |
G1061* |
probably null |
Het |
| Mast3 |
T |
C |
8: 71,240,577 (GRCm39) |
I287V |
probably benign |
Het |
| Mrgpre |
T |
A |
7: 143,335,465 (GRCm39) |
T13S |
probably benign |
Het |
| Myoc |
C |
T |
1: 162,467,128 (GRCm39) |
A99V |
probably benign |
Het |
| Or10a49 |
C |
A |
7: 108,467,895 (GRCm39) |
M155I |
probably benign |
Het |
| Otulinl |
T |
A |
15: 27,664,442 (GRCm39) |
R109S |
possibly damaging |
Het |
| Per3 |
G |
A |
4: 151,096,907 (GRCm39) |
P873S |
probably benign |
Het |
| Phykpl |
A |
C |
11: 51,493,622 (GRCm39) |
E453A |
probably benign |
Het |
| Pkd2l2 |
A |
T |
18: 34,563,826 (GRCm39) |
I514L |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,915,703 (GRCm39) |
R904L |
probably damaging |
Het |
| Ptpn1 |
A |
G |
2: 167,813,668 (GRCm39) |
D137G |
probably benign |
Het |
| Rasal3 |
G |
A |
17: 32,614,143 (GRCm39) |
P571S |
probably damaging |
Het |
| Sdha |
A |
G |
13: 74,475,044 (GRCm39) |
|
probably null |
Het |
| Tbc1d31 |
C |
A |
15: 57,805,954 (GRCm39) |
Q439K |
probably benign |
Het |
| Ttc12 |
T |
C |
9: 49,364,633 (GRCm39) |
D381G |
possibly damaging |
Het |
| Uaca |
T |
A |
9: 60,776,885 (GRCm39) |
M424K |
probably benign |
Het |
| Usp33 |
G |
T |
3: 152,080,320 (GRCm39) |
A484S |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,316,730 (GRCm39) |
S1940P |
probably damaging |
Het |
| Zfp532 |
G |
A |
18: 65,777,421 (GRCm39) |
V893I |
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 |
|
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 |
|
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'- GGACATTTCTCACATCCTTCAAG -3'
(R):5'- TAGCGCTTTATAGACAACAGCC -3'
Sequencing Primer
(F):5'- TGACAGTTTGGAGAAGCCC -3'
(R):5'- GCTTTATAGACAACAGCCCACTTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation