Incidental Mutation 'R1291:Qrfprl'
| ID |
150784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrfprl
|
| Ensembl Gene |
ENSMUSG00000029917 |
| Gene Name |
pyroglutamylated RFamide peptide receptor like |
| Synonyms |
C130060K24Rik |
| MMRRC Submission |
039357-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R1291 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
65358278-65435134 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 65429884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 193
(Y193*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133352]
[ENSMUST00000170608]
|
| AlphaFold |
G3UWA8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000133352
AA Change: Y140*
|
| SMART Domains |
Protein: ENSMUSP00000122416
Gene: ENSMUSG00000029917
AA Change: Y140*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
49 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srsx
|
55 |
113 |
1.2e-7 |
PFAM |
|
Pfam:7tm_1
|
61 |
122 |
1.3e-14 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000136016
AA Change: Y84*
|
| SMART Domains |
Protein: ENSMUSP00000121875
Gene: ENSMUSG00000029917
AA Change: Y84*
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170608
AA Change: Y193*
|
| SMART Domains |
Protein: ENSMUSP00000130225
Gene: ENSMUSG00000029917
AA Change: Y193*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
49 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srsx
|
55 |
346 |
2.5e-5 |
PFAM |
|
Pfam:7tm_1
|
61 |
331 |
7.2e-56 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
C |
A |
5: 30,404,532 (GRCm39) |
L301F |
probably damaging |
Het |
| Apba1 |
G |
T |
19: 23,895,036 (GRCm39) |
A491S |
probably damaging |
Het |
| Bmp5 |
A |
T |
9: 75,793,955 (GRCm39) |
K355* |
probably null |
Het |
| Chdh |
C |
T |
14: 29,753,519 (GRCm39) |
R143* |
probably null |
Het |
| Evc2 |
A |
G |
5: 37,544,159 (GRCm39) |
E636G |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,623,942 (GRCm39) |
I1120F |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,924,065 (GRCm39) |
H491L |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,231,907 (GRCm39) |
S1074T |
probably benign |
Het |
| Nell1 |
T |
C |
7: 49,879,998 (GRCm39) |
V330A |
probably benign |
Het |
| Psg20 |
T |
C |
7: 18,418,599 (GRCm39) |
D56G |
possibly damaging |
Het |
| Ptk2 |
C |
T |
15: 73,082,605 (GRCm39) |
V951I |
probably damaging |
Het |
| Rps23rg1 |
T |
C |
8: 3,633,938 (GRCm39) |
I13T |
probably damaging |
Het |
| Rtel1 |
A |
G |
2: 180,992,836 (GRCm39) |
D632G |
probably damaging |
Het |
| Smoc1 |
T |
C |
12: 81,226,365 (GRCm39) |
F397L |
probably damaging |
Het |
| Spsb3 |
G |
T |
17: 25,106,782 (GRCm39) |
|
probably null |
Het |
| Srp68 |
A |
T |
11: 116,154,107 (GRCm39) |
L154H |
probably damaging |
Het |
| Timp3 |
A |
G |
10: 86,181,702 (GRCm39) |
Y191C |
probably damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,404 (GRCm39) |
T766A |
probably damaging |
Het |
| Ythdc2 |
C |
T |
18: 44,988,276 (GRCm39) |
S28F |
probably benign |
Het |
| Ywhaz |
T |
C |
15: 36,772,978 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Qrfprl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02084:Qrfprl
|
APN |
6 |
65,358,594 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03335:Qrfprl
|
APN |
6 |
65,430,101 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1689:Qrfprl
|
UTSW |
6 |
65,358,591 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1705:Qrfprl
|
UTSW |
6 |
65,433,290 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2188:Qrfprl
|
UTSW |
6 |
65,418,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3955:Qrfprl
|
UTSW |
6 |
65,430,092 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4058:Qrfprl
|
UTSW |
6 |
65,358,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4572:Qrfprl
|
UTSW |
6 |
65,431,975 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4597:Qrfprl
|
UTSW |
6 |
65,424,408 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4756:Qrfprl
|
UTSW |
6 |
65,429,898 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5139:Qrfprl
|
UTSW |
6 |
65,433,203 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5872:Qrfprl
|
UTSW |
6 |
65,418,369 (GRCm39) |
intron |
probably benign |
|
|
R6193:Qrfprl
|
UTSW |
6 |
65,433,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6305:Qrfprl
|
UTSW |
6 |
65,431,975 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6423:Qrfprl
|
UTSW |
6 |
65,433,077 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6453:Qrfprl
|
UTSW |
6 |
65,430,014 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6677:Qrfprl
|
UTSW |
6 |
65,433,229 (GRCm39) |
missense |
probably benign |
|
|
R6744:Qrfprl
|
UTSW |
6 |
65,418,324 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6793:Qrfprl
|
UTSW |
6 |
65,358,405 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6875:Qrfprl
|
UTSW |
6 |
65,433,320 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6941:Qrfprl
|
UTSW |
6 |
65,424,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Qrfprl
|
UTSW |
6 |
65,418,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7063:Qrfprl
|
UTSW |
6 |
65,418,387 (GRCm39) |
intron |
probably benign |
|
|
R7564:Qrfprl
|
UTSW |
6 |
65,429,891 (GRCm39) |
nonsense |
probably null |
|
|
R7699:Qrfprl
|
UTSW |
6 |
65,429,940 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7700:Qrfprl
|
UTSW |
6 |
65,429,940 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7711:Qrfprl
|
UTSW |
6 |
65,418,357 (GRCm39) |
missense |
|
|
|
R7799:Qrfprl
|
UTSW |
6 |
65,433,121 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7801:Qrfprl
|
UTSW |
6 |
65,418,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8737:Qrfprl
|
UTSW |
6 |
65,433,260 (GRCm39) |
missense |
probably benign |
|
|
R8762:Qrfprl
|
UTSW |
6 |
65,424,393 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8927:Qrfprl
|
UTSW |
6 |
65,358,597 (GRCm39) |
nonsense |
probably null |
|
|
R8928:Qrfprl
|
UTSW |
6 |
65,358,597 (GRCm39) |
nonsense |
probably null |
|
|
R9317:Qrfprl
|
UTSW |
6 |
65,424,368 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9405:Qrfprl
|
UTSW |
6 |
65,433,078 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9712:Qrfprl
|
UTSW |
6 |
65,433,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF018:Qrfprl
|
UTSW |
6 |
65,433,174 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAAATCCAGCAGCAGCTCGC -3'
(R):5'- AATTACCCAGGTAGCCCCTTCCAG -3'
Sequencing Primer
(F):5'- AGCAGCAGCTCGCATCTG -3'
(R):5'- TCCATGAATAGTTCGGAGCACTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation