Incidental Mutation 'R6393:Calcr'
| ID |
515867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calcr
|
| Ensembl Gene |
ENSMUSG00000023964 |
| Gene Name |
calcitonin receptor |
| Synonyms |
Clr |
| MMRRC Submission |
044542-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
3685680-3764714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3708586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 200
(L200S)
|
| 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: L200S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964
AA Change: L200S
| 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: L200S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964
AA Change: L200S
| 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: L200S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964
AA Change: L200S
| 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: L200S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964
AA Change: L200S
| 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: L200S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964
AA Change: L200S
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
99% (70/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,856,690 (GRCm39) |
Q14R |
possibly damaging |
Het |
| Adamts12 |
A |
G |
15: 11,255,721 (GRCm39) |
D430G |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,393,894 (GRCm39) |
|
probably null |
Het |
| Akirin1 |
T |
G |
4: 123,637,324 (GRCm39) |
Q87P |
possibly damaging |
Het |
| Ank2 |
G |
A |
3: 126,723,406 (GRCm39) |
R974C |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,354,498 (GRCm39) |
I804V |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,130,527 (GRCm39) |
L437Q |
possibly damaging |
Het |
| Atp8a2 |
G |
T |
14: 60,011,204 (GRCm39) |
Y967* |
probably null |
Het |
| Ccdc80 |
T |
A |
16: 44,916,828 (GRCm39) |
V528D |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,821,407 (GRCm39) |
Y1296H |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,302,063 (GRCm39) |
R28C |
possibly damaging |
Het |
| Clrn1 |
A |
G |
3: 58,753,741 (GRCm39) |
F207L |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,562,767 (GRCm39) |
T1772A |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,360,491 (GRCm39) |
T1744A |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,037,218 (GRCm39) |
E655G |
probably damaging |
Het |
| Dnajb3 |
T |
A |
1: 88,133,384 (GRCm39) |
E6V |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,060,051 (GRCm39) |
P463S |
probably benign |
Het |
| Eif4a3l1 |
A |
G |
6: 136,305,596 (GRCm39) |
K19R |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,555,374 (GRCm39) |
C1128S |
probably benign |
Het |
| Fcrl5 |
G |
A |
3: 87,355,634 (GRCm39) |
G449E |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,493,061 (GRCm39) |
N1818K |
possibly damaging |
Het |
| Gm21149 |
C |
A |
5: 15,678,037 (GRCm39) |
V187L |
possibly damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gstm7 |
A |
G |
3: 107,838,142 (GRCm39) |
|
probably null |
Het |
| Htr1b |
T |
A |
9: 81,513,810 (GRCm39) |
I266F |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,620,900 (GRCm39) |
I305T |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,816 (GRCm39) |
C97R |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,288,912 (GRCm39) |
H557L |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,612,813 (GRCm39) |
V1199A |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,459,292 (GRCm39) |
L246P |
probably damaging |
Het |
| M6pr |
T |
C |
6: 122,292,339 (GRCm39) |
L178P |
possibly damaging |
Het |
| Med17 |
A |
G |
9: 15,185,879 (GRCm39) |
S212P |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,749,374 (GRCm39) |
S31T |
possibly damaging |
Het |
| Morc2b |
T |
G |
17: 33,356,750 (GRCm39) |
T341P |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,696,805 (GRCm39) |
M1V |
probably null |
Het |
| Mrpl17 |
T |
C |
7: 105,459,122 (GRCm39) |
H158R |
probably benign |
Het |
| Mstn |
A |
G |
1: 53,105,648 (GRCm39) |
Q330R |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,558,695 (GRCm39) |
K2533* |
probably null |
Het |
| N4bp2 |
T |
C |
5: 65,948,344 (GRCm39) |
S325P |
possibly damaging |
Het |
| Nadk |
A |
G |
4: 155,673,808 (GRCm39) |
Y399C |
possibly damaging |
Het |
| Nbea |
A |
C |
3: 55,998,540 (GRCm39) |
L89R |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,328,181 (GRCm39) |
F775L |
probably benign |
Het |
| Ndufa11 |
C |
A |
17: 57,028,331 (GRCm39) |
A70E |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,976,851 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Or10q3 |
A |
T |
19: 11,848,091 (GRCm39) |
L163Q |
probably damaging |
Het |
| Or12e9 |
A |
G |
2: 87,201,909 (GRCm39) |
N11S |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,618,762 (GRCm39) |
S443P |
probably damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,304,793 (GRCm39) |
D425G |
probably benign |
Het |
| Pdcd1lg2 |
T |
A |
19: 29,414,698 (GRCm39) |
C42S |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Rbm46 |
G |
A |
3: 82,771,262 (GRCm39) |
T451M |
probably benign |
Het |
| Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
| Rpl7l1 |
T |
C |
17: 47,093,548 (GRCm39) |
E4G |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,506 (GRCm39) |
E613G |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,960,621 (GRCm39) |
D183G |
probably damaging |
Het |
| Slc15a4 |
C |
T |
5: 127,693,950 (GRCm39) |
A162T |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,527,966 (GRCm39) |
W315R |
probably damaging |
Het |
| Slc39a14 |
G |
C |
14: 70,547,262 (GRCm39) |
F361L |
probably benign |
Het |
| Slc6a13 |
T |
C |
6: 121,313,801 (GRCm39) |
Y515H |
possibly damaging |
Het |
| Slitrk3 |
C |
A |
3: 72,957,247 (GRCm39) |
K508N |
possibly damaging |
Het |
| Stard4 |
T |
C |
18: 33,338,278 (GRCm39) |
D144G |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,102,136 (GRCm39) |
F476L |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,031,345 (GRCm39) |
V1021D |
probably damaging |
Het |
| Vmn1r54 |
A |
T |
6: 90,246,304 (GRCm39) |
I73F |
probably benign |
Het |
| Vmn2r19 |
A |
C |
6: 123,293,112 (GRCm39) |
S385R |
possibly damaging |
Het |
| Xkr5 |
A |
G |
8: 18,998,716 (GRCm39) |
L34P |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,875,770 (GRCm39) |
V121A |
probably damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,712,177 (GRCm39) |
H268L |
probably null |
Het |
| Zfp865 |
T |
C |
7: 5,033,065 (GRCm39) |
F350S |
probably damaging |
Het |
| Zscan4b |
T |
C |
7: 10,634,828 (GRCm39) |
I472V |
possibly 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 |
|
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'- AACCACTAATAGGCTTTCTTCATGC -3'
(R):5'- TGGAAGCCACCATGAGAAAC -3'
Sequencing Primer
(F):5'- GCTTTAAACCACTGGTTAAGTCAAC -3'
(R):5'- CAAAAACCATGAAATGCCACTGG -3'
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| Posted On |
2018-05-04 |
Incidental Mutation