Incidental Mutation 'R4058:Qrfprl'
| ID |
314335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Qrfprl
|
| Ensembl Gene |
ENSMUSG00000029917 |
| Gene Name |
pyroglutamylated RFamide peptide receptor like |
| Synonyms |
C130060K24Rik |
| MMRRC Submission |
040969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R4058 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
65358278-65435134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65358525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 83
(I83N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133352]
[ENSMUST00000170608]
|
| AlphaFold |
G3UWA8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133352
AA Change: I83N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122416
Gene: ENSMUSG00000029917
AA Change: I83N
| 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 damaging
Transcript: ENSMUST00000170608
AA Change: I83N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130225
Gene: ENSMUSG00000029917
AA Change: I83N
| 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 |
|
| Meta Mutation Damage Score |
0.9672 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
88% (38/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
| Adam15 |
A |
G |
3: 89,254,362 (GRCm39) |
V145A |
possibly damaging |
Het |
| Anxa4 |
C |
T |
6: 86,734,800 (GRCm39) |
|
probably null |
Het |
| Aqp9 |
C |
A |
9: 71,037,726 (GRCm39) |
V184L |
probably benign |
Het |
| Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cldn34c4 |
C |
A |
X: 126,629,060 (GRCm39) |
V137F |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,994,282 (GRCm39) |
E163G |
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,769,764 (GRCm39) |
D113G |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,810,830 (GRCm39) |
V971D |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,097,810 (GRCm39) |
|
probably benign |
Het |
| H13 |
C |
G |
2: 152,533,794 (GRCm39) |
P227R |
probably damaging |
Het |
| Ift22 |
C |
A |
5: 136,940,717 (GRCm39) |
P84Q |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Kdm8 |
T |
A |
7: 125,055,666 (GRCm39) |
Y65N |
probably damaging |
Het |
| Lbp |
T |
A |
2: 158,166,550 (GRCm39) |
V368E |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Megf6 |
T |
C |
4: 154,326,989 (GRCm39) |
|
probably benign |
Het |
| Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
| Mitd1 |
C |
T |
1: 37,920,107 (GRCm39) |
S167N |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,838,724 (GRCm39) |
V1593A |
probably benign |
Het |
| Nkx3-2 |
T |
A |
5: 41,919,406 (GRCm39) |
E194V |
possibly damaging |
Het |
| Nup210 |
A |
T |
6: 91,037,602 (GRCm39) |
V757D |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,812,884 (GRCm39) |
Y192C |
probably damaging |
Het |
| Or10ak7 |
T |
C |
4: 118,791,880 (GRCm39) |
D53G |
probably damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,576 (GRCm39) |
S138R |
possibly damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
| Pkd2l2 |
T |
C |
18: 34,561,245 (GRCm39) |
F418L |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
| Prep |
G |
A |
10: 45,034,467 (GRCm39) |
V660M |
probably benign |
Het |
| Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
| Rhbdd1 |
A |
G |
1: 82,348,102 (GRCm39) |
N235D |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,379,981 (GRCm39) |
D950E |
probably damaging |
Het |
| Slc1a5 |
T |
C |
7: 16,529,778 (GRCm39) |
V399A |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,892,487 (GRCm39) |
Q89H |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,068,703 (GRCm39) |
W2168R |
probably damaging |
Het |
| Taok1 |
T |
A |
11: 77,440,264 (GRCm39) |
K581M |
probably benign |
Het |
| Tns3 |
T |
C |
11: 8,442,275 (GRCm39) |
D696G |
probably damaging |
Het |
| Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
| Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
| Usp45 |
T |
C |
4: 21,810,746 (GRCm39) |
I314T |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,312 (GRCm39) |
H182L |
probably damaging |
Het |
| Vmn2r76 |
A |
C |
7: 85,879,508 (GRCm39) |
M264R |
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 |
|
|
R1291:Qrfprl
|
UTSW |
6 |
65,429,884 (GRCm39) |
nonsense |
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 |
|
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'- ATGTCGTGGAACTTGACCG -3'
(R):5'- GTAAGCCCTGCTGAGAAGTTCC -3'
Sequencing Primer
(F):5'- TCAGTTCATCGCGCACTATGGG -3'
(R):5'- GTTCCAAAAATTCAGGGGTTCTC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation