Incidental Mutation 'IGL02084:Qrfprl'
| ID |
283452 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Qrfprl
|
| Ensembl Gene |
ENSMUSG00000029917 |
| Gene Name |
pyroglutamylated RFamide peptide receptor like |
| Synonyms |
C130060K24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL02084
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
65358278-65435134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65358594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 106
(V106A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133352]
[ENSMUST00000170608]
|
| AlphaFold |
G3UWA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133352
AA Change: V106A
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122416
Gene: ENSMUSG00000029917
AA Change: V106A
| 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 benign
Transcript: ENSMUST00000170608
AA Change: V106A
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000130225
Gene: ENSMUSG00000029917
AA Change: V106A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,021,423 (GRCm39) |
F1096L |
probably benign |
Het |
| Abcd2 |
T |
A |
15: 91,062,530 (GRCm39) |
|
probably null |
Het |
| Actr10 |
T |
C |
12: 71,001,423 (GRCm39) |
I210T |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,950 (GRCm39) |
D342V |
probably damaging |
Het |
| Bicra |
G |
A |
7: 15,721,663 (GRCm39) |
T618I |
probably benign |
Het |
| Birc6 |
C |
A |
17: 74,915,277 (GRCm39) |
Q1642K |
probably benign |
Het |
| Cenpn |
A |
G |
8: 117,667,634 (GRCm39) |
Y331C |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,376,899 (GRCm39) |
I624N |
probably benign |
Het |
| Eddm3b |
A |
T |
14: 51,354,087 (GRCm39) |
H25L |
unknown |
Het |
| Fam90a1a |
A |
G |
8: 22,449,313 (GRCm39) |
E19G |
probably benign |
Het |
| Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
| Fbxo41 |
A |
T |
6: 85,457,747 (GRCm39) |
|
probably null |
Het |
| Frem3 |
A |
G |
8: 81,339,072 (GRCm39) |
D455G |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,418,488 (GRCm39) |
Q86R |
probably benign |
Het |
| Gm45234 |
T |
C |
6: 124,724,658 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
C |
T |
11: 48,779,912 (GRCm39) |
D337N |
probably benign |
Het |
| Gm6882 |
T |
A |
7: 21,161,512 (GRCm39) |
I119F |
probably damaging |
Het |
| Kcns3 |
C |
T |
12: 11,142,195 (GRCm39) |
R168Q |
probably damaging |
Het |
| Klra17 |
T |
A |
6: 129,808,556 (GRCm39) |
N226Y |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,326,396 (GRCm39) |
N2915D |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,353,167 (GRCm39) |
D1504G |
probably damaging |
Het |
| Mgat4d |
C |
T |
8: 84,095,610 (GRCm39) |
S295L |
possibly damaging |
Het |
| Mslnl |
T |
C |
17: 25,965,125 (GRCm39) |
V497A |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,555,137 (GRCm39) |
S920P |
probably damaging |
Het |
| Mynn |
C |
A |
3: 30,665,764 (GRCm39) |
H465Q |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,411,088 (GRCm39) |
E182G |
probably damaging |
Het |
| Ncln |
T |
C |
10: 81,324,430 (GRCm39) |
I417V |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,341,985 (GRCm39) |
C553* |
probably null |
Het |
| Or5k14 |
G |
A |
16: 58,693,399 (GRCm39) |
T38I |
probably damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,980 (GRCm39) |
Q24L |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,447,623 (GRCm39) |
I2257V |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,566,657 (GRCm39) |
S35T |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,336,499 (GRCm39) |
V3291A |
probably benign |
Het |
| Runx2 |
C |
T |
17: 45,035,716 (GRCm39) |
A173T |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,807,648 (GRCm39) |
Y833* |
probably null |
Het |
| Setbp1 |
G |
A |
18: 78,900,625 (GRCm39) |
A1014V |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,949,512 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
A |
G |
2: 163,928,527 (GRCm39) |
T120A |
probably benign |
Het |
| Taf3 |
A |
T |
2: 10,047,330 (GRCm39) |
V106D |
probably benign |
Het |
| Uchl5 |
A |
G |
1: 143,677,912 (GRCm39) |
I139V |
possibly damaging |
Het |
| Ung |
A |
G |
5: 114,268,637 (GRCm39) |
E25G |
probably benign |
Het |
| Wrn |
A |
G |
8: 33,775,207 (GRCm39) |
V619A |
probably benign |
Het |
|
| Other mutations in Qrfprl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation