Incidental Mutation 'IGL03335:Qrfprl'
| ID |
417019 |
| 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: 0.080)
|
| Stock # |
IGL03335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
65358278-65435134 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 65430101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133352]
[ENSMUST00000170608]
|
| AlphaFold |
G3UWA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133352
|
| SMART Domains |
Protein: ENSMUSP00000122416
Gene: ENSMUSG00000029917
| 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: ENSMUST00000136016
|
| SMART Domains |
Protein: ENSMUSP00000121875
Gene: ENSMUSG00000029917
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170608
|
| SMART Domains |
Protein: ENSMUSP00000130225
Gene: ENSMUSG00000029917
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,985,258 (GRCm39) |
V713A |
probably benign |
Het |
| Abtb3 |
A |
T |
10: 85,494,222 (GRCm39) |
|
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,700,514 (GRCm39) |
V31A |
probably benign |
Het |
| Alcam |
A |
C |
16: 52,111,366 (GRCm39) |
Y244* |
probably null |
Het |
| Ankrd24 |
A |
G |
10: 81,482,967 (GRCm39) |
S972G |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,115,319 (GRCm39) |
V768E |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,661 (GRCm39) |
I1212V |
probably benign |
Het |
| Catsper1 |
C |
T |
19: 5,386,339 (GRCm39) |
R191C |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,949,386 (GRCm39) |
V57D |
probably benign |
Het |
| Cpsf3 |
T |
C |
12: 21,356,888 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,365,140 (GRCm39) |
S1633P |
probably damaging |
Het |
| Dsg1c |
G |
A |
18: 20,416,754 (GRCm39) |
R885Q |
probably benign |
Het |
| Egfl6 |
C |
A |
X: 165,321,689 (GRCm39) |
G272W |
probably damaging |
Het |
| Ermard |
T |
C |
17: 15,279,668 (GRCm39) |
L486P |
probably damaging |
Het |
| F13b |
A |
T |
1: 139,450,124 (GRCm39) |
L595F |
probably damaging |
Het |
| Foxm1 |
A |
G |
6: 128,349,531 (GRCm39) |
N350S |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,881,803 (GRCm39) |
|
probably benign |
Het |
| Gpr152 |
C |
A |
19: 4,193,770 (GRCm39) |
T437N |
possibly damaging |
Het |
| Icmt |
T |
A |
4: 152,385,154 (GRCm39) |
Y205* |
probably null |
Het |
| Ints8 |
A |
T |
4: 11,216,460 (GRCm39) |
F844I |
probably damaging |
Het |
| Mep1a |
T |
A |
17: 43,788,064 (GRCm39) |
D664V |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,574,449 (GRCm39) |
N966K |
probably benign |
Het |
| Myo7b |
T |
A |
18: 32,118,073 (GRCm39) |
Q851L |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,850 (GRCm39) |
H2095R |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,639,366 (GRCm39) |
L4P |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,329,947 (GRCm39) |
N166K |
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 79,006,492 (GRCm39) |
M137T |
probably damaging |
Het |
| Rbm15b |
G |
A |
9: 106,761,538 (GRCm39) |
H877Y |
probably damaging |
Het |
| Rbm45 |
T |
C |
2: 76,206,777 (GRCm39) |
L263P |
probably damaging |
Het |
| Rprd1b |
T |
C |
2: 157,916,884 (GRCm39) |
V288A |
probably damaging |
Het |
| Tmtc3 |
C |
A |
10: 100,302,116 (GRCm39) |
V278L |
probably damaging |
Het |
| Tomm70a |
A |
G |
16: 56,970,289 (GRCm39) |
T556A |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 57,035,504 (GRCm39) |
E143G |
probably damaging |
Het |
| Trpm3 |
G |
T |
19: 22,903,435 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
T |
C |
5: 87,054,499 (GRCm39) |
E94G |
probably benign |
Het |
| Vmn1r174 |
T |
C |
7: 23,453,937 (GRCm39) |
V201A |
probably benign |
Het |
| Zfp352 |
T |
C |
4: 90,112,583 (GRCm39) |
F241S |
probably damaging |
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 |
|
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 |
2016-08-02 |
Incidental Mutation