Incidental Mutation 'R4494:Calcr'
ID |
330880 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Calcr
|
Ensembl Gene |
ENSMUSG00000023964 |
Gene Name |
calcitonin receptor |
Synonyms |
Clr |
MMRRC Submission |
041582-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4494 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
3685680-3764714 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 3708484 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075644]
[ENSMUST00000115622]
[ENSMUST00000168592]
[ENSMUST00000170266]
[ENSMUST00000171613]
|
AlphaFold |
Q60755 |
Predicted Effect |
probably null
Transcript: ENSMUST00000075644
|
SMART Domains |
Protein: ENSMUSP00000075070 Gene: ENSMUSG00000023964
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 null
Transcript: ENSMUST00000115622
|
SMART Domains |
Protein: ENSMUSP00000111285 Gene: ENSMUSG00000023964
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 null
Transcript: ENSMUST00000168592
|
SMART Domains |
Protein: ENSMUSP00000130243 Gene: ENSMUSG00000023964
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 null
Transcript: ENSMUST00000170266
|
SMART Domains |
Protein: ENSMUSP00000132124 Gene: ENSMUSG00000023964
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 null
Transcript: ENSMUST00000171396
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171613
|
SMART Domains |
Protein: ENSMUSP00000130083 Gene: ENSMUSG00000023964
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 |
0.9490 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atf7ip |
T |
A |
6: 136,540,747 (GRCm39) |
|
probably null |
Het |
Cacna1b |
T |
C |
2: 24,542,950 (GRCm39) |
T1301A |
probably damaging |
Het |
Camsap1 |
T |
C |
2: 25,842,770 (GRCm39) |
D262G |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,962,641 (GRCm39) |
V101A |
probably damaging |
Het |
Ccdc170 |
T |
C |
10: 4,464,128 (GRCm39) |
Y36H |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,451,428 (GRCm39) |
S492T |
probably benign |
Het |
Chrna4 |
T |
A |
2: 180,670,281 (GRCm39) |
I492F |
probably damaging |
Het |
Cit |
T |
C |
5: 116,012,043 (GRCm39) |
Y217H |
probably damaging |
Het |
Cnbd1 |
T |
A |
4: 19,098,150 (GRCm39) |
D90V |
probably benign |
Het |
Cryba2 |
A |
G |
1: 74,929,789 (GRCm39) |
F116S |
probably damaging |
Het |
Ctbp1 |
T |
C |
5: 33,408,213 (GRCm39) |
T240A |
possibly damaging |
Het |
D130043K22Rik |
C |
T |
13: 25,055,339 (GRCm39) |
S501L |
probably benign |
Het |
Ddhd2 |
A |
G |
8: 26,228,261 (GRCm39) |
F553S |
probably benign |
Het |
Ddr2 |
C |
A |
1: 169,815,983 (GRCm39) |
G575W |
probably damaging |
Het |
Dip2c |
T |
C |
13: 9,621,098 (GRCm39) |
V537A |
possibly damaging |
Het |
Dnah12 |
C |
T |
14: 26,593,812 (GRCm39) |
A752V |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,488,197 (GRCm39) |
D3260G |
probably benign |
Het |
Efemp2 |
T |
A |
19: 5,530,339 (GRCm39) |
C309S |
probably damaging |
Het |
Gse1 |
G |
A |
8: 121,297,553 (GRCm39) |
|
probably benign |
Het |
Hspa4l |
T |
C |
3: 40,707,636 (GRCm39) |
S53P |
possibly damaging |
Het |
Ighv5-4 |
T |
C |
12: 113,561,204 (GRCm39) |
D72G |
probably benign |
Het |
Igkv15-103 |
A |
G |
6: 68,414,780 (GRCm39) |
N73S |
probably benign |
Het |
Igsf11 |
T |
G |
16: 38,831,703 (GRCm39) |
N183K |
possibly damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Kcnk18 |
T |
C |
19: 59,223,263 (GRCm39) |
V136A |
probably damaging |
Het |
Krt75 |
A |
T |
15: 101,480,136 (GRCm39) |
Y240* |
probably null |
Het |
Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
Man2a2 |
C |
T |
7: 80,009,023 (GRCm39) |
|
probably null |
Het |
Mme |
A |
G |
3: 63,254,613 (GRCm39) |
N491S |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Msi2 |
T |
C |
11: 88,608,185 (GRCm39) |
D39G |
possibly damaging |
Het |
Naa60 |
T |
A |
16: 3,718,585 (GRCm39) |
C122* |
probably null |
Het |
Nes |
A |
G |
3: 87,884,120 (GRCm39) |
E793G |
probably damaging |
Het |
Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
Nme6 |
C |
T |
9: 109,671,122 (GRCm39) |
L121F |
probably damaging |
Het |
Or4k47 |
T |
A |
2: 111,451,493 (GRCm39) |
K309* |
probably null |
Het |
Otud1 |
C |
T |
2: 19,664,146 (GRCm39) |
T425I |
probably damaging |
Het |
Pimreg |
T |
C |
11: 71,935,964 (GRCm39) |
V149A |
probably benign |
Het |
Plbd1 |
T |
C |
6: 136,590,856 (GRCm39) |
I437V |
probably damaging |
Het |
Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
Slc1a3 |
G |
A |
15: 8,668,579 (GRCm39) |
T462I |
probably damaging |
Het |
Slc25a26 |
A |
G |
6: 94,575,384 (GRCm39) |
T198A |
probably damaging |
Het |
Stkld1 |
A |
G |
2: 26,836,638 (GRCm39) |
N268S |
probably benign |
Het |
Svop |
T |
C |
5: 114,183,688 (GRCm39) |
T195A |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,492,946 (GRCm39) |
E66G |
probably damaging |
Het |
Tas2r129 |
A |
G |
6: 132,928,317 (GRCm39) |
I85V |
probably benign |
Het |
Tent5a |
A |
G |
9: 85,207,100 (GRCm39) |
S233P |
probably damaging |
Het |
Tprn |
T |
C |
2: 25,158,904 (GRCm39) |
S643P |
probably damaging |
Het |
Ush2a |
C |
T |
1: 188,285,473 (GRCm39) |
T2003I |
possibly damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,576,335 (GRCm39) |
V402E |
probably damaging |
Het |
Vmn2r3 |
C |
G |
3: 64,182,692 (GRCm39) |
G336R |
probably damaging |
Het |
Wdr89 |
A |
T |
12: 75,679,521 (GRCm39) |
D244E |
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 |
|
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 |
|
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'- TTCATTGTGGAGCACTGGTAC -3'
(R):5'- CGTGTAACAACCCTTTGTGC -3'
Sequencing Primer
(F):5'- TGATAAATTATTGGGTAGCCATAAGC -3'
(R):5'- GTGTAACAACCCTTTGTGCTTTCATG -3'
|
Posted On |
2015-07-21 |