Incidental Mutation 'R8181:Calcr'
| ID |
634610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calcr
|
| Ensembl Gene |
ENSMUSG00000023964 |
| Gene Name |
calcitonin receptor |
| Synonyms |
Clr |
| MMRRC Submission |
067605-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8181 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
3685680-3764714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3693899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 325
(I325M)
|
| 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: I325M
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964
AA Change: I325M
| 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: I288M
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964
AA Change: I288M
| 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: I288M
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964
AA Change: I288M
| 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: I325M
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964
AA Change: I325M
| 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: I288M
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964
AA Change: I288M
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (73/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,774,156 (GRCm39) |
S1115N |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,059,303 (GRCm39) |
V1551A |
probably benign |
Het |
| Adam30 |
T |
C |
3: 98,070,291 (GRCm39) |
I708T |
probably benign |
Het |
| Aknad1 |
T |
A |
3: 108,659,328 (GRCm39) |
L114H |
possibly damaging |
Het |
| Akr1c18 |
G |
A |
13: 4,185,262 (GRCm39) |
S290L |
probably benign |
Het |
| Aldh18a1 |
G |
T |
19: 40,545,881 (GRCm39) |
D635E |
probably benign |
Het |
| Bax |
G |
T |
7: 45,115,698 (GRCm39) |
P23Q |
probably null |
Het |
| Bhlha15 |
A |
T |
5: 144,128,244 (GRCm39) |
N119Y |
probably damaging |
Het |
| Boll |
T |
A |
1: 55,402,478 (GRCm39) |
M1L |
probably benign |
Het |
| C2cd2 |
A |
T |
16: 97,693,502 (GRCm39) |
I123N |
probably benign |
Het |
| Cacnb4 |
A |
C |
2: 52,364,997 (GRCm39) |
S89A |
probably benign |
Het |
| Calca |
A |
G |
7: 114,234,387 (GRCm39) |
C21R |
probably benign |
Het |
| Card14 |
T |
A |
11: 119,212,718 (GRCm39) |
F94Y |
probably damaging |
Het |
| Chil3 |
A |
C |
3: 106,057,203 (GRCm39) |
I247S |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,544,898 (GRCm39) |
N363S |
probably benign |
Het |
| Cnksr3 |
A |
G |
10: 7,070,475 (GRCm39) |
V494A |
possibly damaging |
Het |
| Cog4 |
A |
G |
8: 111,578,717 (GRCm39) |
|
probably null |
Het |
| Crybg1 |
T |
A |
10: 43,862,322 (GRCm39) |
Y1484F |
probably damaging |
Het |
| Dglucy |
A |
G |
12: 100,816,370 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
T |
A |
5: 104,359,380 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
T |
A |
9: 45,658,140 (GRCm39) |
I1637N |
possibly damaging |
Het |
| Ercc6 |
T |
A |
14: 32,279,905 (GRCm39) |
I640N |
probably damaging |
Het |
| Esp16 |
G |
T |
17: 39,850,707 (GRCm39) |
E29* |
probably null |
Het |
| Fam149a |
T |
C |
8: 45,834,755 (GRCm39) |
I15V |
possibly damaging |
Het |
| Flt4 |
T |
A |
11: 49,525,723 (GRCm39) |
I724N |
probably damaging |
Het |
| Glb1 |
C |
T |
9: 114,259,429 (GRCm39) |
R202C |
probably damaging |
Het |
| Gmpr2 |
C |
A |
14: 55,910,441 (GRCm39) |
S41* |
probably null |
Het |
| Golgb1 |
T |
A |
16: 36,737,192 (GRCm39) |
D2187E |
probably damaging |
Het |
| Gpsm2 |
A |
G |
3: 108,597,080 (GRCm39) |
|
probably null |
Het |
| Helz |
A |
G |
11: 107,563,399 (GRCm39) |
D1613G |
unknown |
Het |
| Hemgn |
A |
C |
4: 46,396,504 (GRCm39) |
M244R |
possibly damaging |
Het |
| Hsd3b1 |
A |
T |
3: 98,763,453 (GRCm39) |
V56E |
probably damaging |
Het |
| Jup |
A |
T |
11: 100,267,751 (GRCm39) |
I524N |
probably damaging |
Het |
| Kdm1b |
G |
T |
13: 47,205,377 (GRCm39) |
|
probably null |
Het |
| Kif11 |
A |
T |
19: 37,379,095 (GRCm39) |
|
probably null |
Het |
| Lars1 |
A |
T |
18: 42,361,835 (GRCm39) |
W591R |
probably damaging |
Het |
| Lrtm1 |
T |
A |
14: 28,743,894 (GRCm39) |
S121T |
probably damaging |
Het |
| Med12l |
A |
C |
3: 59,169,389 (GRCm39) |
D1593A |
probably damaging |
Het |
| Med17 |
A |
T |
9: 15,188,928 (GRCm39) |
D112E |
possibly damaging |
Het |
| Mettl2 |
T |
A |
11: 105,019,866 (GRCm39) |
F168I |
probably benign |
Het |
| Mmp9 |
A |
T |
2: 164,792,365 (GRCm39) |
D323V |
probably damaging |
Het |
| Mpzl2 |
C |
T |
9: 44,961,006 (GRCm39) |
T214I |
probably benign |
Het |
| Ms4a15 |
T |
C |
19: 10,958,670 (GRCm39) |
H134R |
probably benign |
Het |
| Ms4a6d |
T |
A |
19: 11,580,653 (GRCm39) |
I2F |
probably damaging |
Het |
| Muc3a |
G |
A |
5: 137,244,535 (GRCm39) |
P206S |
unknown |
Het |
| Nectin2 |
C |
A |
7: 19,458,733 (GRCm39) |
L359F |
probably damaging |
Het |
| Or2y6 |
C |
A |
11: 52,104,096 (GRCm39) |
C240F |
probably damaging |
Het |
| Or4f53 |
T |
A |
2: 111,087,918 (GRCm39) |
F153I |
probably benign |
Het |
| Pgm2 |
G |
T |
5: 64,269,467 (GRCm39) |
C518F |
possibly damaging |
Het |
| Plppr4 |
A |
G |
3: 117,116,114 (GRCm39) |
V581A |
probably damaging |
Het |
| Prkra |
G |
C |
2: 76,469,634 (GRCm39) |
L142V |
probably damaging |
Het |
| Prpf38a |
G |
A |
4: 108,434,195 (GRCm39) |
T74I |
probably benign |
Het |
| Ptprs |
T |
A |
17: 56,736,064 (GRCm39) |
N635I |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,987,201 (GRCm39) |
N361D |
probably benign |
Het |
| Ryr3 |
T |
G |
2: 112,608,588 (GRCm39) |
I2351L |
probably damaging |
Het |
| Sfmbt2 |
A |
T |
2: 10,580,190 (GRCm39) |
T618S |
probably benign |
Het |
| Six6 |
A |
G |
12: 72,986,906 (GRCm39) |
D26G |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,051,047 (GRCm39) |
L568P |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,842,104 (GRCm39) |
C10S |
probably damaging |
Het |
| Sox13 |
G |
T |
1: 133,311,498 (GRCm39) |
T578K |
probably benign |
Het |
| Spire2 |
A |
T |
8: 124,088,042 (GRCm39) |
S509C |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,074,808 (GRCm39) |
D1521G |
possibly damaging |
Het |
| Sult2a7 |
T |
C |
7: 14,204,098 (GRCm39) |
T207A |
probably benign |
Het |
| Sun2 |
A |
G |
15: 79,609,721 (GRCm39) |
I708T |
probably damaging |
Het |
| Supt5 |
T |
C |
7: 28,030,899 (GRCm39) |
E44G |
unknown |
Het |
| Thsd1 |
A |
G |
8: 22,733,022 (GRCm39) |
E23G |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,310,728 (GRCm39) |
V214A |
possibly damaging |
Het |
| Vmn2r74 |
A |
T |
7: 85,605,324 (GRCm39) |
F441L |
probably damaging |
Het |
| Zfp30 |
A |
G |
7: 29,493,080 (GRCm39) |
T526A |
probably benign |
Het |
| Zfp518a |
G |
T |
19: 40,902,415 (GRCm39) |
Q781H |
probably damaging |
Het |
| Zmynd11 |
A |
G |
13: 9,739,687 (GRCm39) |
V434A |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,585,508 (GRCm39) |
D652G |
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 |
|
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'- TCCATGGATGATGTAAAGCAAGTG -3'
(R):5'- TTAGCCAAACTCCACATGCTG -3'
Sequencing Primer
(F):5'- AAAGCAAGTGGGTTTCTGCACTC -3'
(R):5'- CCACATGCTGATGATGCTTGAGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation