Incidental Mutation 'R4298:Qrfpr'
| ID |
323414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrfpr
|
| Ensembl Gene |
ENSMUSG00000058400 |
| Gene Name |
pyroglutamylated RFamide peptide receptor |
| Synonyms |
AQ27, Gpr103 |
| MMRRC Submission |
041086-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36233575-36276462 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36243703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 133
(I133F)
|
| 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: I133F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088768
Gene: ENSMUSG00000058400
AA Change: I133F
| 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 |
noncoding transcript
Transcript: ENSMUST00000197275
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197447
AA Change: I133F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143773
Gene: ENSMUSG00000058400
AA Change: I133F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
61 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
62 |
229 |
1.1e-35 |
PFAM |
|
| Meta Mutation Damage Score |
0.9244 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (54/54) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Ccser2 |
T |
A |
14: 36,612,337 (GRCm39) |
Q158L |
possibly damaging |
Het |
| Cct7 |
T |
A |
6: 85,445,155 (GRCm39) |
C469S |
probably damaging |
Het |
| Chmp7 |
A |
T |
14: 69,956,650 (GRCm39) |
|
probably null |
Het |
| Clcn4 |
C |
T |
7: 7,299,737 (GRCm39) |
D31N |
possibly damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Cyp4a10 |
T |
C |
4: 115,389,889 (GRCm39) |
L498P |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,113,811 (GRCm39) |
N370K |
possibly damaging |
Het |
| Dusp12 |
G |
A |
1: 170,708,198 (GRCm39) |
T173M |
probably benign |
Het |
| Ebf3 |
C |
T |
7: 136,826,958 (GRCm39) |
R318Q |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Erich6 |
G |
T |
3: 58,531,712 (GRCm39) |
A428D |
probably benign |
Het |
| Ext1 |
A |
T |
15: 53,208,521 (GRCm39) |
I80N |
probably benign |
Het |
| Extl1 |
T |
C |
4: 134,084,969 (GRCm39) |
E667G |
probably damaging |
Het |
| F2 |
T |
G |
2: 91,459,665 (GRCm39) |
|
probably null |
Het |
| Fbxw16 |
T |
C |
9: 109,275,625 (GRCm39) |
I135V |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Lmbrd2 |
G |
A |
15: 9,165,882 (GRCm39) |
R252H |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,809,472 (GRCm39) |
T381A |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,298,444 (GRCm39) |
V97D |
possibly damaging |
Het |
| Nefh |
A |
G |
11: 4,890,066 (GRCm39) |
I851T |
probably benign |
Het |
| Nf1 |
A |
T |
11: 79,275,070 (GRCm39) |
I44F |
probably damaging |
Het |
| Nyap2 |
A |
T |
1: 81,218,811 (GRCm39) |
I278F |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,993 (GRCm39) |
T240S |
probably benign |
Het |
| Or4f7d-ps1 |
G |
T |
2: 111,674,789 (GRCm39) |
|
noncoding transcript |
Het |
| Pdcd4 |
C |
A |
19: 53,908,092 (GRCm39) |
P201Q |
probably damaging |
Het |
| Pramel16 |
A |
T |
4: 143,675,713 (GRCm39) |
L371* |
probably null |
Het |
| Prdm11 |
T |
C |
2: 92,823,728 (GRCm39) |
T179A |
probably benign |
Het |
| Rack1 |
T |
C |
11: 48,692,453 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Sag |
G |
C |
1: 87,772,737 (GRCm39) |
D402H |
probably benign |
Het |
| Sbk3 |
T |
A |
7: 4,972,979 (GRCm39) |
T64S |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3gl1 |
C |
T |
17: 56,326,173 (GRCm39) |
G111D |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,373,914 (GRCm39) |
R379W |
probably damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Stk39 |
C |
T |
2: 68,221,284 (GRCm39) |
G213D |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,222,603 (GRCm39) |
|
probably benign |
Het |
| Taf1d |
T |
C |
9: 15,219,939 (GRCm39) |
S63P |
probably damaging |
Het |
| Tnfrsf13b |
C |
G |
11: 61,031,643 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,554,394 (GRCm39) |
A30807D |
probably damaging |
Het |
| Unc119 |
A |
G |
11: 78,238,948 (GRCm39) |
N158S |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,620,801 (GRCm39) |
I845N |
possibly damaging |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,309,997 (GRCm39) |
V87A |
probably damaging |
Het |
| Zwilch |
A |
G |
9: 64,062,444 (GRCm39) |
|
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 |
|
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 |
|
R9121:Qrfpr
|
UTSW |
3 |
36,235,156 (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'- CCACAGACTGCAATCTCTGAAG -3'
(R):5'- TTGCATCTATGGCATGGTTATCATC -3'
Sequencing Primer
(F):5'- CTGCAATCTCTGAAGTCATATGC -3'
(R):5'- GGCATGGTTATCATCAGAAAGCTTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation