Incidental Mutation 'R4402:Calcr'
ID |
326668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Calcr
|
Ensembl Gene |
ENSMUSG00000023964 |
Gene Name |
calcitonin receptor |
Synonyms |
Clr |
MMRRC Submission |
042003-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4402 (G1)
|
Quality Score |
225 |
Status
|
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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
98% (61/62) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
T |
A |
11: 58,771,020 (GRCm39) |
H167Q |
probably benign |
Het |
Adamts20 |
T |
C |
15: 94,277,827 (GRCm39) |
T212A |
probably benign |
Het |
Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
Atl1 |
T |
G |
12: 70,005,973 (GRCm39) |
D426E |
probably benign |
Het |
Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
Canx |
T |
C |
11: 50,195,265 (GRCm39) |
T268A |
probably benign |
Het |
Chd7 |
A |
T |
4: 8,866,353 (GRCm39) |
M842L |
possibly damaging |
Het |
Clca4a |
T |
C |
3: 144,658,609 (GRCm39) |
T787A |
probably benign |
Het |
Clstn3 |
T |
C |
6: 124,433,939 (GRCm39) |
Y407C |
probably damaging |
Het |
Copa |
C |
A |
1: 171,929,791 (GRCm39) |
T286N |
probably damaging |
Het |
Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
Def6 |
A |
G |
17: 28,438,950 (GRCm39) |
K219E |
probably damaging |
Het |
Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
Eif5 |
A |
T |
12: 111,508,183 (GRCm39) |
K161N |
probably benign |
Het |
Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,292,363 (GRCm39) |
N475K |
possibly damaging |
Het |
Gm14569 |
T |
C |
X: 35,697,146 (GRCm39) |
Y521C |
probably benign |
Het |
Gm6124 |
T |
A |
7: 38,870,529 (GRCm39) |
|
noncoding transcript |
Het |
Gpt2 |
A |
T |
8: 86,252,188 (GRCm39) |
D501V |
probably benign |
Het |
Gstm2 |
T |
C |
3: 107,893,370 (GRCm39) |
K31R |
probably benign |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Itga1 |
T |
A |
13: 115,138,102 (GRCm39) |
M428L |
probably benign |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kcnn4 |
T |
C |
7: 24,076,867 (GRCm39) |
W139R |
probably benign |
Het |
Kdm7a |
T |
A |
6: 39,143,602 (GRCm39) |
R380W |
probably null |
Het |
Khdrbs1 |
T |
G |
4: 129,635,889 (GRCm39) |
D22A |
possibly damaging |
Het |
Liph |
A |
T |
16: 21,795,000 (GRCm39) |
I204N |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,529,456 (GRCm39) |
E2033G |
possibly damaging |
Het |
M6pr |
C |
T |
6: 122,291,982 (GRCm39) |
|
probably benign |
Het |
Mrm1 |
A |
G |
11: 84,709,915 (GRCm39) |
I95T |
probably damaging |
Het |
Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
Mug1 |
C |
A |
6: 121,856,311 (GRCm39) |
F1030L |
probably damaging |
Het |
Naca |
C |
T |
10: 127,879,341 (GRCm39) |
|
probably benign |
Het |
Nob1 |
A |
T |
8: 108,145,120 (GRCm39) |
|
probably benign |
Het |
Nutm1 |
A |
C |
2: 112,080,154 (GRCm39) |
I587R |
probably damaging |
Het |
Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
Pcdhb2 |
A |
G |
18: 37,428,455 (GRCm39) |
K143E |
probably benign |
Het |
Pcnt |
T |
C |
10: 76,228,227 (GRCm39) |
Q1646R |
probably benign |
Het |
Piwil2 |
A |
T |
14: 70,646,365 (GRCm39) |
D390E |
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,309,635 (GRCm39) |
L2771P |
probably damaging |
Het |
Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
Plekhn1 |
T |
C |
4: 156,309,813 (GRCm39) |
T135A |
probably damaging |
Het |
Pola1 |
T |
C |
X: 92,605,029 (GRCm39) |
Y968C |
probably damaging |
Het |
Ppp1r26 |
C |
A |
2: 28,341,618 (GRCm39) |
T416K |
probably benign |
Het |
Psmd1 |
A |
G |
1: 86,003,673 (GRCm39) |
I153V |
possibly damaging |
Het |
Rcan2 |
A |
G |
17: 44,264,361 (GRCm39) |
D7G |
probably benign |
Het |
Rexo5 |
T |
C |
7: 119,433,599 (GRCm39) |
I326T |
possibly damaging |
Het |
Rps6kc1 |
A |
G |
1: 190,530,802 (GRCm39) |
|
probably benign |
Het |
Shc1 |
T |
C |
3: 89,333,985 (GRCm39) |
S273P |
probably benign |
Het |
Slc9b2 |
T |
C |
3: 135,042,305 (GRCm39) |
V528A |
probably benign |
Het |
Tas2r118 |
T |
C |
6: 23,969,293 (GRCm39) |
K256R |
probably benign |
Het |
Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
Tnfaip2 |
T |
C |
12: 111,416,285 (GRCm39) |
F516L |
probably benign |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
Wdr35 |
A |
G |
12: 9,039,981 (GRCm39) |
D362G |
probably damaging |
Het |
Wwp2 |
T |
C |
8: 108,184,610 (GRCm39) |
V106A |
probably benign |
Het |
Zfp40 |
T |
A |
17: 23,395,693 (GRCm39) |
H230L |
possibly damaging |
Het |
Zkscan17 |
T |
A |
11: 59,393,848 (GRCm39) |
M1L |
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 |
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 |
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'- ACTTCATTGTGGAGCACTGG -3'
(R):5'- CGTGTAACAACCCTTTGTGC -3'
Sequencing Primer
(F):5'- TGATAAATTATTGGGTAGCCATAAGC -3'
(R):5'- GTGTAACAACCCTTTGTGCTTTCATG -3'
|
Posted On |
2015-07-07 |