Incidental Mutation 'R7342:Calcr'
ID |
569931 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Calcr
|
Ensembl Gene |
ENSMUSG00000023964 |
Gene Name |
calcitonin receptor |
Synonyms |
Clr |
MMRRC Submission |
045432-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7342 (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 A
at 3691536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 450
(H450L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075070
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075644]
[ENSMUST00000115622]
[ENSMUST00000168592]
[ENSMUST00000170266]
[ENSMUST00000171613]
|
AlphaFold |
Q60755 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075644
AA Change: H450L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000075070 Gene: ENSMUSG00000023964 AA Change: H450L
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: H413L
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000111285 Gene: ENSMUSG00000023964 AA Change: H413L
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: H413L
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000130243 Gene: ENSMUSG00000023964 AA Change: H413L
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: H450L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000132124 Gene: ENSMUSG00000023964 AA Change: H450L
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: H413L
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000130083 Gene: ENSMUSG00000023964 AA Change: H413L
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
T |
G |
11: 101,308,018 (GRCm39) |
T28P |
probably benign |
Het |
Abcc1 |
C |
A |
16: 14,283,033 (GRCm39) |
R1170S |
probably damaging |
Het |
Adam8 |
T |
C |
7: 139,566,304 (GRCm39) |
N568S |
probably benign |
Het |
Arhgap17 |
T |
C |
7: 122,926,467 (GRCm39) |
R65G |
probably damaging |
Het |
Arid4b |
A |
C |
13: 14,310,804 (GRCm39) |
I136L |
probably benign |
Het |
Ash1l |
G |
T |
3: 88,873,304 (GRCm39) |
G29V |
possibly damaging |
Het |
Atp6v0a2 |
A |
G |
5: 124,784,676 (GRCm39) |
T320A |
probably damaging |
Het |
B4gat1 |
G |
A |
19: 5,089,686 (GRCm39) |
V228M |
probably benign |
Het |
Cand1 |
A |
T |
10: 119,047,692 (GRCm39) |
N599K |
possibly damaging |
Het |
Cblif |
A |
T |
19: 11,740,587 (GRCm39) |
H407L |
probably benign |
Het |
Cel |
A |
T |
2: 28,450,649 (GRCm39) |
Y125* |
probably null |
Het |
Cfi |
T |
A |
3: 129,668,781 (GRCm39) |
N602K |
probably damaging |
Het |
Clstn1 |
G |
A |
4: 149,713,887 (GRCm39) |
A190T |
probably damaging |
Het |
Cmklr1 |
C |
T |
5: 113,752,354 (GRCm39) |
V216M |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 115,987,852 (GRCm39) |
T128A |
probably benign |
Het |
Creld2 |
A |
G |
15: 88,710,610 (GRCm39) |
T342A |
probably benign |
Het |
Ctbp2 |
T |
C |
7: 132,616,041 (GRCm39) |
E298G |
probably damaging |
Het |
Ctsh |
A |
T |
9: 89,957,040 (GRCm39) |
E307V |
probably benign |
Het |
Cxcl10 |
T |
A |
5: 92,496,029 (GRCm39) |
D36V |
probably benign |
Het |
Dgkb |
A |
G |
12: 38,150,432 (GRCm39) |
T73A |
probably benign |
Het |
Dnah3 |
T |
G |
7: 119,629,208 (GRCm39) |
E1449A |
probably damaging |
Het |
Dpp6 |
T |
C |
5: 27,919,552 (GRCm39) |
M683T |
probably benign |
Het |
Foxn4 |
C |
A |
5: 114,396,760 (GRCm39) |
W241L |
probably damaging |
Het |
Gosr1 |
T |
C |
11: 76,621,033 (GRCm39) |
I219V |
probably benign |
Het |
Gtf2f2 |
T |
C |
14: 76,144,317 (GRCm39) |
D179G |
probably damaging |
Het |
Ighg2b |
A |
G |
12: 113,270,050 (GRCm39) |
Y323H |
|
Het |
Itpr2 |
A |
T |
6: 146,228,685 (GRCm39) |
H1303Q |
probably damaging |
Het |
Kif1b |
A |
C |
4: 149,298,547 (GRCm39) |
Y1040D |
possibly damaging |
Het |
Lbr |
C |
T |
1: 181,653,186 (GRCm39) |
|
probably null |
Het |
Lrp2 |
A |
G |
2: 69,309,634 (GRCm39) |
V2755A |
possibly damaging |
Het |
Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
Lrrcc1 |
T |
A |
3: 14,619,431 (GRCm39) |
C606S |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,275,917 (GRCm39) |
E6217G |
probably damaging |
Het |
Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
Myo9b |
T |
C |
8: 71,808,418 (GRCm39) |
V1687A |
probably damaging |
Het |
Naip2 |
A |
T |
13: 100,325,864 (GRCm39) |
F15I |
probably benign |
Het |
Neb |
A |
T |
2: 52,171,679 (GRCm39) |
S1605T |
probably damaging |
Het |
Nuak1 |
T |
C |
10: 84,210,831 (GRCm39) |
E419G |
probably damaging |
Het |
Or14a260 |
G |
A |
7: 85,985,295 (GRCm39) |
T103I |
probably benign |
Het |
Or8c18 |
A |
G |
9: 38,203,574 (GRCm39) |
Y111C |
probably damaging |
Het |
Paip2b |
T |
A |
6: 83,791,808 (GRCm39) |
S25C |
probably damaging |
Het |
Pgbd5 |
G |
A |
8: 125,160,709 (GRCm39) |
R53C |
probably benign |
Het |
Plin4 |
T |
C |
17: 56,411,608 (GRCm39) |
T808A |
probably benign |
Het |
Pramel11 |
A |
T |
4: 143,623,520 (GRCm39) |
I218K |
probably benign |
Het |
Prex2 |
A |
G |
1: 11,232,549 (GRCm39) |
D872G |
probably benign |
Het |
Ptf1a |
A |
G |
2: 19,451,977 (GRCm39) |
*325W |
probably null |
Het |
Ptprg |
T |
C |
14: 12,237,151 (GRCm38) |
V1390A |
possibly damaging |
Het |
Rhpn2 |
A |
G |
7: 35,033,771 (GRCm39) |
T2A |
probably damaging |
Het |
Rpl18a |
T |
C |
8: 71,348,042 (GRCm39) |
N214D |
unknown |
Het |
Scp2 |
T |
A |
4: 107,948,518 (GRCm39) |
Y197F |
probably benign |
Het |
Sftpb |
G |
A |
6: 72,286,858 (GRCm39) |
R254H |
probably benign |
Het |
Slc17a9 |
T |
C |
2: 180,378,555 (GRCm39) |
L246P |
probably damaging |
Het |
Slc38a9 |
G |
T |
13: 112,806,125 (GRCm39) |
|
probably benign |
Het |
Slc4a1ap |
C |
T |
5: 31,693,634 (GRCm39) |
L523F |
possibly damaging |
Het |
Spats2l |
C |
A |
1: 57,925,106 (GRCm39) |
T168K |
possibly damaging |
Het |
Sstr1 |
A |
G |
12: 58,260,456 (GRCm39) |
S360G |
possibly damaging |
Het |
Taf1b |
A |
T |
12: 24,608,343 (GRCm39) |
K581* |
probably null |
Het |
Tfip11 |
T |
A |
5: 112,475,838 (GRCm39) |
M1K |
probably null |
Het |
Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,551,583 (GRCm39) |
H48Y |
probably benign |
Het |
Uggt2 |
T |
A |
14: 119,232,384 (GRCm39) |
H1489L |
possibly damaging |
Het |
Unc13b |
T |
C |
4: 43,258,703 (GRCm39) |
L1346P |
probably damaging |
Het |
Vmac |
T |
C |
17: 57,022,644 (GRCm39) |
E122G |
probably benign |
Het |
Vmn2r125 |
T |
C |
4: 156,703,138 (GRCm39) |
V172A |
probably damaging |
Het |
Zfp54 |
A |
G |
17: 21,648,014 (GRCm39) |
|
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 |
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 |
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'- CCATAGGTGAGTGTGATTCTGC -3'
(R):5'- GTATGAGCTTAAGCAAGACCCC -3'
Sequencing Primer
(F):5'- CTGCTTGAGGTAGTGGGATAACC -3'
(R):5'- TTCAGGCTTCTGAGAGACATAG -3'
|
Posted On |
2019-09-13 |