Incidental Mutation 'R9121:Qrfpr'
| ID |
692765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrfpr
|
| Ensembl Gene |
ENSMUSG00000058400 |
| Gene Name |
pyroglutamylated RFamide peptide receptor |
| Synonyms |
AQ27, Gpr103 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9121 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36233575-36276462 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36235156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 278
(V278A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091227]
[ENSMUST00000197447]
|
| AlphaFold |
P83861 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091227
AA Change: V278A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088768
Gene: ENSMUSG00000058400
AA Change: V278A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
56 |
347 |
3.6e-8 |
PFAM |
|
Pfam:7tm_1
|
62 |
332 |
4.5e-57 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000197447
|
| SMART Domains |
Protein: ENSMUSP00000143773
Gene: ENSMUSG00000058400
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
61 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
62 |
229 |
1.1e-35 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a mutation diisplay kyphosis with abnormal vertebrae morphology and development including osteopenia of the vertebrae. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
T |
13: 68,820,078 (GRCm39) |
N720K |
probably benign |
Het |
| Ampd1 |
C |
T |
3: 103,005,998 (GRCm39) |
Q603* |
probably null |
Het |
| Arap2 |
G |
A |
5: 62,906,326 (GRCm39) |
T231M |
possibly damaging |
Het |
| Atp2b4 |
TCT |
TCTGCT |
1: 133,629,463 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
C |
T |
4: 122,761,516 (GRCm39) |
R122Q |
probably damaging |
Het |
| Cdh10 |
G |
A |
15: 19,011,074 (GRCm39) |
V586M |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,389,331 (GRCm39) |
V303E |
possibly damaging |
Het |
| Cnnm3 |
C |
A |
1: 36,563,158 (GRCm39) |
C707* |
probably null |
Het |
| Crtc3 |
A |
G |
7: 80,242,323 (GRCm39) |
F497L |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,683,774 (GRCm39) |
Y949C |
|
Het |
| D5Ertd579e |
A |
T |
5: 36,772,778 (GRCm39) |
I539N |
probably damaging |
Het |
| Dctpp1 |
T |
C |
7: 126,856,456 (GRCm39) |
R89G |
probably damaging |
Het |
| Dnah7c |
T |
A |
1: 46,704,650 (GRCm39) |
V2221E |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,816,896 (GRCm39) |
L3628I |
probably benign |
Het |
| E030025P04Rik |
A |
G |
11: 109,034,738 (GRCm39) |
F50S |
unknown |
Het |
| Edrf1 |
CGG |
CG |
7: 133,258,770 (GRCm39) |
|
probably null |
Het |
| Epb41l1 |
T |
G |
2: 156,364,487 (GRCm39) |
S999A |
probably benign |
Het |
| Fbxw10 |
T |
A |
11: 62,738,153 (GRCm39) |
C16S |
possibly damaging |
Het |
| Fbxw19 |
G |
A |
9: 109,324,890 (GRCm39) |
P9L |
probably damaging |
Het |
| Gpi1 |
A |
T |
7: 33,907,114 (GRCm39) |
Y327N |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,525,195 (GRCm39) |
L637P |
probably damaging |
Het |
| Idh3a |
T |
C |
9: 54,493,829 (GRCm39) |
|
probably null |
Het |
| Ighv1-56 |
T |
A |
12: 115,206,634 (GRCm39) |
T47S |
probably benign |
Het |
| Iglc2 |
A |
C |
16: 19,017,294 (GRCm39) |
C103G |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,148,102 (GRCm39) |
T771A |
possibly damaging |
Het |
| Mcm2 |
C |
A |
6: 88,861,019 (GRCm39) |
R893L |
probably benign |
Het |
| Mettl15 |
A |
T |
2: 109,104,948 (GRCm39) |
V19E |
|
Het |
| Mier2 |
G |
A |
10: 79,377,594 (GRCm39) |
A453V |
|
Het |
| Mlf1 |
T |
C |
3: 67,307,054 (GRCm39) |
S255P |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,482,636 (GRCm39) |
D78G |
possibly damaging |
Het |
| Or5w14 |
T |
A |
2: 87,541,975 (GRCm39) |
I92F |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,726,976 (GRCm39) |
M59K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,536,462 (GRCm39) |
K1340E |
probably benign |
Het |
| Pla2g4c |
A |
G |
7: 13,091,010 (GRCm39) |
D589G |
probably damaging |
Het |
| Qrich2 |
T |
A |
11: 116,347,272 (GRCm39) |
H1184L |
unknown |
Het |
| Rnaset2a |
A |
G |
17: 8,347,549 (GRCm39) |
F250S |
possibly damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,190,356 (GRCm39) |
Y32C |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,254,786 (GRCm39) |
S611P |
probably benign |
Het |
| Slco1a1 |
C |
A |
6: 141,892,542 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,040,599 (GRCm39) |
D225V |
probably damaging |
Het |
| Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
| Trim7 |
T |
A |
11: 48,740,674 (GRCm39) |
L257Q |
probably damaging |
Het |
| Trpm8 |
T |
A |
1: 88,312,423 (GRCm39) |
N1101K |
probably benign |
Het |
| Unc79 |
C |
T |
12: 102,968,095 (GRCm39) |
T107M |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,631,523 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,756,946 (GRCm39) |
Y1150* |
probably null |
Het |
|
| Other mutations in Qrfpr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01935:Qrfpr
|
APN |
3 |
36,235,200 (GRCm39) |
splice site |
probably null |
|
|
IGL02274:Qrfpr
|
APN |
3 |
36,276,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0382:Qrfpr
|
UTSW |
3 |
36,235,118 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0398:Qrfpr
|
UTSW |
3 |
36,235,201 (GRCm39) |
splice site |
probably benign |
|
|
R0631:Qrfpr
|
UTSW |
3 |
36,276,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Qrfpr
|
UTSW |
3 |
36,243,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Qrfpr
|
UTSW |
3 |
36,234,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Qrfpr
|
UTSW |
3 |
36,236,809 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1418:Qrfpr
|
UTSW |
3 |
36,234,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1500:Qrfpr
|
UTSW |
3 |
36,236,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2037:Qrfpr
|
UTSW |
3 |
36,236,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3924:Qrfpr
|
UTSW |
3 |
36,276,072 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3925:Qrfpr
|
UTSW |
3 |
36,276,072 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3966:Qrfpr
|
UTSW |
3 |
36,235,149 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4298:Qrfpr
|
UTSW |
3 |
36,243,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Qrfpr
|
UTSW |
3 |
36,236,771 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4760:Qrfpr
|
UTSW |
3 |
36,276,073 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4989:Qrfpr
|
UTSW |
3 |
36,276,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5548:Qrfpr
|
UTSW |
3 |
36,276,075 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5607:Qrfpr
|
UTSW |
3 |
36,235,114 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5608:Qrfpr
|
UTSW |
3 |
36,235,114 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6027:Qrfpr
|
UTSW |
3 |
36,276,187 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6115:Qrfpr
|
UTSW |
3 |
36,236,742 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6546:Qrfpr
|
UTSW |
3 |
36,234,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6714:Qrfpr
|
UTSW |
3 |
36,234,405 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7080:Qrfpr
|
UTSW |
3 |
36,234,198 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7833:Qrfpr
|
UTSW |
3 |
36,243,751 (GRCm39) |
missense |
probably benign |
|
|
R8796:Qrfpr
|
UTSW |
3 |
36,234,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Qrfpr
|
UTSW |
3 |
36,276,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Qrfpr
|
UTSW |
3 |
36,276,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9522:Qrfpr
|
UTSW |
3 |
36,236,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Qrfpr
|
UTSW |
3 |
36,236,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCACACAGAAGGTTGGC -3'
(R):5'- GCTTATTGCATGAAGACTGTGAAG -3'
Sequencing Primer
(F):5'- ACAGAAGGTTGGCGCTCCTG -3'
(R):5'- TATTGCATGAAGACTGTGAAGATAGG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation