Incidental Mutation 'R6357:Calcr'
ID |
512373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Calcr
|
Ensembl Gene |
ENSMUSG00000023964 |
Gene Name |
calcitonin receptor |
Synonyms |
Clr |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6357 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
3685680-3764714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3714710 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 140
(D140G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075644]
[ENSMUST00000115622]
[ENSMUST00000168592]
[ENSMUST00000170266]
[ENSMUST00000171613]
|
AlphaFold |
Q60755 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075644
AA Change: D140G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000075070 Gene: ENSMUSG00000023964 AA Change: D140G
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 benign
Transcript: ENSMUST00000115622
AA Change: D140G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000111285 Gene: ENSMUSG00000023964 AA Change: D140G
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 benign
Transcript: ENSMUST00000168592
AA Change: D140G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000130243 Gene: ENSMUSG00000023964 AA Change: D140G
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 benign
Transcript: ENSMUST00000170266
AA Change: D140G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000132124 Gene: ENSMUSG00000023964 AA Change: D140G
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 benign
Transcript: ENSMUST00000171613
AA Change: D140G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000130083 Gene: ENSMUSG00000023964 AA Change: D140G
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: 99.7%
- 10x: 97.8%
- 20x: 92.8%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
T |
C |
17: 57,184,591 (GRCm39) |
|
probably null |
Het |
Aoc1l2 |
A |
G |
6: 48,907,908 (GRCm39) |
M303V |
probably benign |
Het |
Armh4 |
A |
T |
14: 50,010,769 (GRCm39) |
S313T |
probably benign |
Het |
Card10 |
T |
C |
15: 78,683,579 (GRCm39) |
E188G |
probably damaging |
Het |
Cenpq |
T |
C |
17: 41,235,418 (GRCm39) |
E193G |
probably damaging |
Het |
Cep164 |
G |
A |
9: 45,682,182 (GRCm39) |
L1874F |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,428,321 (GRCm39) |
M889T |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,765,022 (GRCm39) |
K3841E |
probably damaging |
Het |
Dynlt2b |
T |
G |
16: 32,247,873 (GRCm39) |
|
probably null |
Het |
Eci2 |
A |
G |
13: 35,177,082 (GRCm39) |
V26A |
possibly damaging |
Het |
Eftud2 |
A |
T |
11: 102,755,606 (GRCm39) |
N200K |
probably damaging |
Het |
Eml5 |
T |
A |
12: 98,837,143 (GRCm39) |
H357L |
probably damaging |
Het |
Esam |
T |
C |
9: 37,449,076 (GRCm39) |
*395R |
probably null |
Het |
Galt |
C |
T |
4: 41,757,565 (GRCm39) |
P246S |
probably benign |
Het |
Gjb3 |
A |
T |
4: 127,220,423 (GRCm39) |
Y36* |
probably null |
Het |
Gli2 |
T |
C |
1: 118,769,689 (GRCm39) |
E621G |
probably damaging |
Het |
Gls |
T |
C |
1: 52,258,665 (GRCm39) |
D201G |
probably damaging |
Het |
Gm10801 |
C |
CGTCA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Gm1110 |
T |
C |
9: 26,825,424 (GRCm39) |
|
probably null |
Het |
Gm5565 |
T |
A |
5: 146,097,283 (GRCm39) |
H13L |
possibly damaging |
Het |
Hydin |
A |
C |
8: 111,268,289 (GRCm39) |
T2923P |
possibly damaging |
Het |
Kank1 |
A |
T |
19: 25,388,717 (GRCm39) |
I797L |
probably benign |
Het |
Klhdc8a |
A |
T |
1: 132,230,891 (GRCm39) |
Q252L |
probably damaging |
Het |
Kmt5c |
T |
C |
7: 4,745,204 (GRCm39) |
F65S |
possibly damaging |
Het |
Lix1 |
C |
T |
17: 17,666,255 (GRCm39) |
P138L |
probably benign |
Het |
Lnpep |
T |
C |
17: 17,773,176 (GRCm39) |
N664S |
probably benign |
Het |
Msh6 |
T |
A |
17: 88,291,888 (GRCm39) |
Y214* |
probably null |
Het |
Nefl |
A |
G |
14: 68,321,767 (GRCm39) |
E119G |
probably damaging |
Het |
Nptxr |
C |
A |
15: 79,678,516 (GRCm39) |
R257L |
possibly damaging |
Het |
Or4k15c |
C |
A |
14: 50,321,446 (GRCm39) |
A231S |
probably damaging |
Het |
Or7e173 |
T |
A |
9: 19,938,925 (GRCm39) |
Q103L |
probably damaging |
Het |
Oxct2b |
A |
G |
4: 123,010,709 (GRCm39) |
I210V |
probably benign |
Het |
Plppr3 |
T |
A |
10: 79,701,240 (GRCm39) |
Q534L |
probably benign |
Het |
Psma1 |
T |
C |
7: 113,873,602 (GRCm39) |
|
probably null |
Het |
Rbp3 |
G |
A |
14: 33,678,991 (GRCm39) |
A980T |
probably damaging |
Het |
Ripply2 |
T |
A |
9: 86,898,331 (GRCm39) |
S58R |
possibly damaging |
Het |
Robo1 |
T |
C |
16: 72,767,190 (GRCm39) |
V454A |
probably benign |
Het |
Sacs |
A |
G |
14: 61,446,273 (GRCm39) |
D2773G |
possibly damaging |
Het |
Sirpb1b |
A |
T |
3: 15,568,243 (GRCm39) |
V366E |
possibly damaging |
Het |
Slc5a7 |
T |
C |
17: 54,594,389 (GRCm39) |
I197M |
probably benign |
Het |
Spata31f1a |
T |
A |
4: 42,850,393 (GRCm39) |
I588F |
probably damaging |
Het |
Spmap2 |
T |
C |
10: 79,422,789 (GRCm39) |
S38G |
probably benign |
Het |
Srgap2 |
T |
C |
1: 131,283,280 (GRCm39) |
Y267C |
probably damaging |
Het |
Ssc4d |
T |
C |
5: 135,994,950 (GRCm39) |
T189A |
probably benign |
Het |
Tas2r106 |
A |
G |
6: 131,654,925 (GRCm39) |
*309Q |
probably null |
Het |
Vmn2r44 |
T |
C |
7: 8,373,657 (GRCm39) |
M511V |
probably benign |
Het |
Wdfy4 |
G |
T |
14: 32,823,006 (GRCm39) |
Y1364* |
probably null |
Het |
Zbtb8a |
T |
C |
4: 129,248,092 (GRCm39) |
H393R |
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 |
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 |
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'- ACGCTTCAGAAACCCTATTTCC -3'
(R):5'- CAACACTTGGAATCTCTCTTTCAG -3'
Sequencing Primer
(F):5'- GTGGCATTCTTATCCAATACAG -3'
(R):5'- GGAATCTCTCTTTCAGCCTTAAATG -3'
|
Posted On |
2018-04-27 |