Incidental Mutation 'R5548:Qrfpr'
| ID |
434974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrfpr
|
| Ensembl Gene |
ENSMUSG00000058400 |
| Gene Name |
pyroglutamylated RFamide peptide receptor |
| Synonyms |
AQ27, Gpr103 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5548 (G1)
|
| Quality Score |
196 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
36233575-36276462 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36276075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 105
(Q105L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091227]
[ENSMUST00000197447]
|
| AlphaFold |
P83861 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091227
AA Change: Q105L
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000088768
Gene: ENSMUSG00000058400
AA Change: Q105L
| 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 |
possibly damaging
Transcript: ENSMUST00000197447
AA Change: Q105L
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143773
Gene: ENSMUSG00000058400
AA Change: Q105L
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
C |
10: 28,849,863 (GRCm39) |
D191G |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Cdh12 |
C |
T |
15: 21,492,740 (GRCm39) |
T253I |
probably damaging |
Het |
| Cox4i2 |
C |
T |
2: 152,599,011 (GRCm39) |
T56I |
possibly damaging |
Het |
| Cpsf1 |
A |
C |
15: 76,481,527 (GRCm39) |
D1141E |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,920,847 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,128,672 (GRCm39) |
D1194E |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,228,409 (GRCm39) |
H1676N |
probably benign |
Het |
| Eif4a3l1 |
T |
C |
6: 136,306,568 (GRCm39) |
V343A |
probably damaging |
Het |
| Fitm1 |
A |
G |
14: 55,813,154 (GRCm39) |
T6A |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,904,922 (GRCm39) |
V495E |
probably damaging |
Het |
| Gtf2h2 |
C |
A |
13: 100,617,544 (GRCm39) |
R206L |
possibly damaging |
Het |
| Heatr5a |
A |
T |
12: 52,005,734 (GRCm39) |
Y80* |
probably null |
Het |
| Il17ra |
A |
G |
6: 120,455,434 (GRCm39) |
R348G |
probably benign |
Het |
| Mmp28 |
A |
T |
11: 83,334,733 (GRCm39) |
Y340* |
probably null |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,778 (GRCm39) |
T150S |
probably benign |
Het |
| Ms4a10 |
A |
T |
19: 10,945,484 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
| Mybbp1a |
T |
C |
11: 72,336,998 (GRCm39) |
L578P |
probably damaging |
Het |
| N4bp2l1 |
G |
A |
5: 150,496,420 (GRCm39) |
R65* |
probably null |
Het |
| Nhsl3 |
GGTG |
GGTGTG |
4: 129,117,773 (GRCm39) |
|
probably null |
Het |
| Nup188 |
T |
A |
2: 30,216,505 (GRCm39) |
Y770N |
probably damaging |
Het |
| Or8b3b |
T |
C |
9: 38,584,600 (GRCm39) |
I60V |
probably benign |
Het |
| Or8s5 |
T |
A |
15: 98,238,253 (GRCm39) |
T206S |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,827,381 (GRCm39) |
C1257S |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,004,942 (GRCm39) |
T1028A |
probably damaging |
Het |
| Pramel16 |
C |
T |
4: 143,676,550 (GRCm39) |
E185K |
probably benign |
Het |
| Qars1 |
C |
T |
9: 108,390,117 (GRCm39) |
P348S |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,377 (GRCm39) |
Y428N |
probably benign |
Het |
| Slc16a5 |
A |
T |
11: 115,360,630 (GRCm39) |
Y271F |
probably benign |
Het |
| Slc1a4 |
T |
A |
11: 20,254,429 (GRCm39) |
Q479L |
possibly damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,488,355 (GRCm39) |
G143S |
probably damaging |
Het |
| Susd1 |
G |
A |
4: 59,369,577 (GRCm39) |
T364M |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,628,587 (GRCm39) |
Y496* |
probably null |
Het |
| Tmem63b |
A |
G |
17: 45,975,884 (GRCm39) |
I523T |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,651,669 (GRCm39) |
S1731P |
possibly damaging |
Het |
| Ttll3 |
T |
A |
6: 113,370,078 (GRCm39) |
W139R |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,187,401 (GRCm39) |
T3823M |
probably damaging |
Het |
| Vangl1 |
T |
A |
3: 102,091,762 (GRCm39) |
D108V |
possibly damaging |
Het |
| Vmn1r120 |
T |
C |
7: 20,787,482 (GRCm39) |
I76M |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,156,886 (GRCm39) |
Y17H |
probably damaging |
Het |
| Xkr4 |
C |
T |
1: 3,287,153 (GRCm39) |
A346T |
probably damaging |
Het |
| Zfp267 |
C |
G |
3: 36,219,640 (GRCm39) |
H554Q |
possibly damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,019 (GRCm39) |
S562R |
possibly damaging |
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 |
|
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'- TTCAAGAAGGGCACAGGATTC -3'
(R):5'- ATTCATCGCTATGGGCTGCG -3'
Sequencing Primer
(F):5'- GGCACAGGATTCAATTCGAC -3'
(R):5'- AAACTGGCCTTTGCGCTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation