Incidental Mutation 'IGL02987:Gfral'
ID |
406755 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gfral
|
Ensembl Gene |
ENSMUSG00000059383 |
Gene Name |
GDNF family receptor alpha like |
Synonyms |
GRAL |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL02987
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
76071389-76120939 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76104583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 143
(V143A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074880]
[ENSMUST00000184693]
|
AlphaFold |
Q6SJE0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074880
AA Change: V143A
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000074421 Gene: ENSMUSG00000059383 AA Change: V143A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
GDNF
|
24 |
99 |
4.05e0 |
SMART |
GDNF
|
131 |
210 |
1.15e-19 |
SMART |
GDNF
|
220 |
316 |
3.15e-17 |
SMART |
transmembrane domain
|
351 |
370 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184693
AA Change: V143A
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139120 Gene: ENSMUSG00000059383 AA Change: V143A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
GDNF
|
24 |
99 |
4.05e0 |
SMART |
GDNF
|
131 |
210 |
1.15e-19 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous knockout leads to increased susceptibility to diet-induced obesity caused by overeating and reduced glucose tolerance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1e1 |
T |
C |
13: 4,643,591 (GRCm39) |
D222G |
probably damaging |
Het |
Apbb1ip |
T |
A |
2: 22,757,649 (GRCm39) |
Y422* |
probably null |
Het |
Asf1a |
T |
C |
10: 53,473,367 (GRCm39) |
F28L |
probably damaging |
Het |
Atp6v1c1 |
T |
A |
15: 38,690,806 (GRCm39) |
M319K |
possibly damaging |
Het |
Bsn |
A |
G |
9: 108,003,503 (GRCm39) |
S301P |
probably benign |
Het |
Cds1 |
A |
G |
5: 101,960,391 (GRCm39) |
I281V |
possibly damaging |
Het |
Col4a4 |
T |
C |
1: 82,476,646 (GRCm39) |
|
probably benign |
Het |
Coq2 |
G |
A |
5: 100,811,554 (GRCm39) |
Q103* |
probably null |
Het |
Dgkh |
A |
G |
14: 78,827,312 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
G |
11: 65,746,098 (GRCm39) |
I4005T |
probably damaging |
Het |
Dnah9 |
C |
A |
11: 65,732,099 (GRCm39) |
R4269L |
probably benign |
Het |
F2rl1 |
T |
A |
13: 95,650,741 (GRCm39) |
Q47L |
probably benign |
Het |
Fhod3 |
T |
C |
18: 25,246,610 (GRCm39) |
V1272A |
possibly damaging |
Het |
Gdpd4 |
T |
C |
7: 97,610,758 (GRCm39) |
|
probably benign |
Het |
Gltp |
A |
C |
5: 114,812,243 (GRCm39) |
F88V |
probably benign |
Het |
Hectd1 |
T |
G |
12: 51,791,550 (GRCm39) |
K2565T |
probably damaging |
Het |
Jade2 |
A |
G |
11: 51,721,308 (GRCm39) |
S207P |
probably damaging |
Het |
Khdc3 |
A |
G |
9: 73,009,948 (GRCm39) |
I53V |
possibly damaging |
Het |
Lce1a1 |
T |
C |
3: 92,554,409 (GRCm39) |
T22A |
unknown |
Het |
Lgals9 |
A |
T |
11: 78,858,303 (GRCm39) |
H196Q |
possibly damaging |
Het |
Lrrc37a |
A |
T |
11: 103,391,239 (GRCm39) |
N1395K |
probably benign |
Het |
Mast1 |
C |
T |
8: 85,652,348 (GRCm39) |
V268I |
possibly damaging |
Het |
Myh11 |
T |
G |
16: 14,050,396 (GRCm39) |
E523A |
probably damaging |
Het |
Napb |
T |
C |
2: 148,539,431 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
G |
A |
7: 23,000,858 (GRCm39) |
R51H |
probably damaging |
Het |
Ola1 |
T |
C |
2: 72,987,242 (GRCm39) |
D130G |
probably benign |
Het |
Or8c13 |
A |
T |
9: 38,091,919 (GRCm39) |
S67T |
possibly damaging |
Het |
Pard3 |
G |
A |
8: 128,115,972 (GRCm39) |
C687Y |
probably damaging |
Het |
Rassf9 |
A |
G |
10: 102,381,109 (GRCm39) |
T164A |
possibly damaging |
Het |
Sema3a |
A |
G |
5: 13,615,863 (GRCm39) |
Y429C |
probably damaging |
Het |
Slc25a54 |
T |
C |
3: 109,023,653 (GRCm39) |
V416A |
probably benign |
Het |
Slc30a5 |
T |
C |
13: 100,940,423 (GRCm39) |
T631A |
probably damaging |
Het |
Sorl1 |
A |
T |
9: 41,952,349 (GRCm39) |
C736S |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,345,074 (GRCm39) |
S1788T |
probably damaging |
Het |
Trim42 |
A |
G |
9: 97,247,868 (GRCm39) |
V276A |
probably benign |
Het |
|
Other mutations in Gfral |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01391:Gfral
|
APN |
9 |
76,072,107 (GRCm39) |
nonsense |
probably null |
|
IGL02383:Gfral
|
APN |
9 |
76,104,374 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03002:Gfral
|
APN |
9 |
76,104,520 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL03055:Gfral
|
UTSW |
9 |
76,115,831 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4585001:Gfral
|
UTSW |
9 |
76,104,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R0268:Gfral
|
UTSW |
9 |
76,104,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R0547:Gfral
|
UTSW |
9 |
76,115,924 (GRCm39) |
missense |
probably benign |
0.16 |
R1146:Gfral
|
UTSW |
9 |
76,074,341 (GRCm39) |
missense |
probably benign |
0.00 |
R1146:Gfral
|
UTSW |
9 |
76,074,341 (GRCm39) |
missense |
probably benign |
0.00 |
R1275:Gfral
|
UTSW |
9 |
76,104,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R1830:Gfral
|
UTSW |
9 |
76,100,485 (GRCm39) |
missense |
probably benign |
0.01 |
R2249:Gfral
|
UTSW |
9 |
76,100,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R3709:Gfral
|
UTSW |
9 |
76,100,725 (GRCm39) |
nonsense |
probably null |
|
R4712:Gfral
|
UTSW |
9 |
76,100,727 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5567:Gfral
|
UTSW |
9 |
76,115,900 (GRCm39) |
missense |
probably benign |
0.00 |
R5568:Gfral
|
UTSW |
9 |
76,072,087 (GRCm39) |
makesense |
probably null |
|
R5719:Gfral
|
UTSW |
9 |
76,104,328 (GRCm39) |
missense |
probably benign |
0.02 |
R5789:Gfral
|
UTSW |
9 |
76,104,328 (GRCm39) |
missense |
probably benign |
0.02 |
R5791:Gfral
|
UTSW |
9 |
76,104,328 (GRCm39) |
missense |
probably benign |
0.02 |
R7110:Gfral
|
UTSW |
9 |
76,072,112 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7549:Gfral
|
UTSW |
9 |
76,106,257 (GRCm39) |
missense |
probably benign |
0.14 |
R7782:Gfral
|
UTSW |
9 |
76,100,572 (GRCm39) |
missense |
probably benign |
0.43 |
R7851:Gfral
|
UTSW |
9 |
76,112,737 (GRCm39) |
missense |
probably benign |
0.03 |
R9160:Gfral
|
UTSW |
9 |
76,104,372 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9568:Gfral
|
UTSW |
9 |
76,104,383 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Gfral
|
UTSW |
9 |
76,112,671 (GRCm39) |
missense |
probably benign |
0.26 |
|
Posted On |
2016-08-02 |