Incidental Mutation 'R9183:Calcr'
| ID |
697177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calcr
|
| Ensembl Gene |
ENSMUSG00000023964 |
| Gene Name |
calcitonin receptor |
| Synonyms |
Clr |
| MMRRC Submission |
068950-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
3685680-3764714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3711463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 186
(I186N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075644]
[ENSMUST00000115622]
[ENSMUST00000168592]
[ENSMUST00000170266]
[ENSMUST00000171613]
|
| AlphaFold |
Q60755 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075644
AA Change: I186N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964
AA Change: I186N
| 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 damaging
Transcript: ENSMUST00000115622
AA Change: I186N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964
AA Change: I186N
| 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: I186N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964
AA Change: I186N
| 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: I186N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964
AA Change: I186N
| 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: I186N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964
AA Change: I186N
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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 |
|---|
| Acox2 |
A |
G |
14: 8,251,559 (GRCm38) |
C313R |
probably damaging |
Het |
| Adap2 |
A |
G |
11: 80,045,882 (GRCm39) |
N54S |
probably damaging |
Het |
| Adcy8 |
T |
C |
15: 64,694,116 (GRCm39) |
D387G |
probably damaging |
Het |
| Adgra1 |
G |
A |
7: 139,455,716 (GRCm39) |
R448Q |
probably benign |
Het |
| Antxr1 |
A |
T |
6: 87,264,025 (GRCm39) |
D148E |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,545,627 (GRCm39) |
V1034E |
probably null |
Het |
| Arpp21 |
C |
T |
9: 111,895,066 (GRCm39) |
A731T |
probably benign |
Het |
| Asl |
T |
A |
5: 130,042,312 (GRCm39) |
R255W |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,239,840 (GRCm39) |
S544T |
probably damaging |
Het |
| Atp8a1 |
A |
C |
5: 67,924,378 (GRCm39) |
Y329D |
|
Het |
| Cdh18 |
T |
C |
15: 23,227,065 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,706,595 (GRCm39) |
L1026P |
probably damaging |
Het |
| Ces2a |
T |
A |
8: 105,460,774 (GRCm39) |
V24E |
possibly damaging |
Het |
| Clybl |
T |
C |
14: 122,639,387 (GRCm39) |
I317T |
probably damaging |
Het |
| Col13a1 |
T |
A |
10: 61,699,758 (GRCm39) |
T476S |
unknown |
Het |
| Cyp4f15 |
T |
C |
17: 32,919,205 (GRCm39) |
S343P |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,112 (GRCm39) |
T263A |
probably benign |
Het |
| Fbxo28 |
A |
G |
1: 182,157,526 (GRCm39) |
V97A |
possibly damaging |
Het |
| Frem2 |
C |
T |
3: 53,427,486 (GRCm39) |
V2889I |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,895,080 (GRCm39) |
E663G |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,299,186 (GRCm39) |
K338M |
probably damaging |
Het |
| Gfi1 |
A |
G |
5: 107,873,819 (GRCm39) |
|
probably null |
Het |
| Gfod2 |
A |
G |
8: 106,449,653 (GRCm39) |
S95P |
probably benign |
Het |
| H2-T13 |
T |
A |
17: 36,392,382 (GRCm39) |
H31L |
unknown |
Het |
| Heatr1 |
A |
G |
13: 12,436,266 (GRCm39) |
Q1224R |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,437,551 (GRCm39) |
K1059E |
possibly damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,198,232 (GRCm39) |
A45V |
possibly damaging |
Het |
| Hnmt |
C |
A |
2: 23,893,655 (GRCm39) |
V280L |
probably benign |
Het |
| Ifi35 |
G |
T |
11: 101,348,091 (GRCm39) |
V66L |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,694,379 (GRCm39) |
I188T |
probably damaging |
Het |
| Klhl8 |
C |
A |
5: 104,012,111 (GRCm39) |
A575S |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,601,446 (GRCm39) |
D225G |
probably benign |
Het |
| Lrtm2 |
T |
C |
6: 119,294,384 (GRCm39) |
Y249C |
probably damaging |
Het |
| Med12l |
C |
T |
3: 58,984,498 (GRCm39) |
R479C |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,352,637 (GRCm39) |
Y709F |
possibly damaging |
Het |
| Nsd2 |
G |
A |
5: 34,028,796 (GRCm39) |
A162T |
probably damaging |
Het |
| Or6c38 |
A |
G |
10: 128,929,201 (GRCm39) |
M214T |
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,957,840 (GRCm39) |
Q49K |
probably benign |
Het |
| Polr2h |
T |
C |
16: 20,539,285 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,205,969 (GRCm39) |
E275V |
probably damaging |
Het |
| Prss22 |
C |
T |
17: 24,213,592 (GRCm39) |
G233E |
probably damaging |
Het |
| Rhcg |
A |
T |
7: 79,244,564 (GRCm39) |
L496* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,318,448 (GRCm39) |
E1084G |
|
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
| Slc14a1 |
T |
A |
18: 78,154,598 (GRCm39) |
I263F |
probably benign |
Het |
| Slc40a1 |
C |
T |
1: 45,948,671 (GRCm39) |
M536I |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 96,996,775 (GRCm39) |
|
probably null |
Het |
| Stk32a |
T |
C |
18: 43,394,405 (GRCm39) |
F118S |
probably damaging |
Het |
| Sytl1 |
G |
T |
4: 132,980,934 (GRCm39) |
R467S |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,896,526 (GRCm39) |
I788V |
probably benign |
Het |
| Tmed6 |
T |
A |
8: 107,788,390 (GRCm39) |
R186* |
probably null |
Het |
| Trnau1ap |
G |
A |
4: 132,052,565 (GRCm39) |
R78C |
probably damaging |
Het |
| Trpv1 |
A |
T |
11: 73,135,039 (GRCm39) |
D412V |
possibly damaging |
Het |
| Ttc16 |
C |
T |
2: 32,647,329 (GRCm39) |
V688M |
probably benign |
Het |
| Ubr5 |
C |
A |
15: 37,997,420 (GRCm39) |
L1738F |
|
Het |
| Vmn2r89 |
A |
G |
14: 51,692,501 (GRCm39) |
I101M |
probably benign |
Het |
| Wdr27 |
C |
T |
17: 15,148,651 (GRCm39) |
R114Q |
possibly damaging |
Het |
| Wdr48 |
A |
G |
9: 119,749,730 (GRCm39) |
H563R |
possibly damaging |
Het |
| Wdr49 |
A |
C |
3: 75,205,419 (GRCm39) |
S666A |
probably benign |
Het |
| Wwox |
T |
C |
8: 115,433,110 (GRCm39) |
S259P |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,240,354 (GRCm39) |
D12E |
possibly damaging |
Het |
| Zfp800 |
A |
G |
6: 28,243,172 (GRCm39) |
Y598H |
probably benign |
Het |
| Zfp970 |
T |
C |
2: 177,167,536 (GRCm39) |
L370P |
probably damaging |
Het |
| Zmat5 |
A |
T |
11: 4,672,431 (GRCm39) |
D16V |
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 |
|
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 |
|
|
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'- GTGGCCCATGTTCCTACAATCC -3'
(R):5'- AACCCGTGTGGATTGCCTAC -3'
Sequencing Primer
(F):5'- ATGTTCCTACAATCCCTGTAACTG -3'
(R):5'- ATTCTTAGAGTCGGGGAGCACC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation