Incidental Mutation 'IGL03002:Gfral'
ID |
407375 |
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 # |
IGL03002
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
76071389-76120939 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76104520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 164
(V164A)
|
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: V164A
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000074421 Gene: ENSMUSG00000059383 AA Change: V164A
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: V164A
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000139120 Gene: ENSMUSG00000059383 AA Change: V164A
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
T |
C |
1: 66,876,128 (GRCm39) |
I398V |
probably benign |
Het |
Adcy4 |
A |
T |
14: 56,011,013 (GRCm39) |
C635S |
probably benign |
Het |
Aoc1l3 |
A |
G |
6: 48,964,052 (GRCm39) |
H20R |
probably benign |
Het |
Asic4 |
C |
A |
1: 75,427,967 (GRCm39) |
D164E |
possibly damaging |
Het |
C8g |
T |
A |
2: 25,388,823 (GRCm39) |
*203L |
probably null |
Het |
Cad |
T |
C |
5: 31,212,330 (GRCm39) |
V11A |
probably benign |
Het |
Cckar |
T |
C |
5: 53,860,247 (GRCm39) |
N194S |
probably damaging |
Het |
Cdc123 |
T |
C |
2: 5,803,166 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
T |
C |
2: 112,310,706 (GRCm39) |
T137A |
probably damaging |
Het |
Cyp1a1 |
A |
G |
9: 57,609,724 (GRCm39) |
|
probably benign |
Het |
Dapk3 |
G |
T |
10: 81,026,437 (GRCm39) |
E187* |
probably null |
Het |
Dmtf1 |
T |
C |
5: 9,190,474 (GRCm39) |
E80G |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,461,279 (GRCm39) |
N189K |
probably damaging |
Het |
Hk1 |
A |
T |
10: 62,107,578 (GRCm39) |
V799E |
probably damaging |
Het |
Iars2 |
C |
T |
1: 185,055,013 (GRCm39) |
|
probably null |
Het |
Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,425,505 (GRCm39) |
D708E |
probably damaging |
Het |
Mbtd1 |
T |
A |
11: 93,815,316 (GRCm39) |
H301Q |
probably benign |
Het |
Med12 |
A |
G |
X: 100,339,461 (GRCm39) |
T2004A |
probably benign |
Het |
Mib1 |
T |
C |
18: 10,798,356 (GRCm39) |
I739T |
possibly damaging |
Het |
Mthfsd |
C |
T |
8: 121,835,018 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
T |
G |
2: 90,954,234 (GRCm39) |
F369C |
probably damaging |
Het |
Nfatc2 |
C |
T |
2: 168,376,904 (GRCm39) |
V329M |
probably damaging |
Het |
Ngef |
A |
T |
1: 87,437,114 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
T |
C |
11: 71,059,685 (GRCm39) |
E759G |
probably benign |
Het |
Or10aa3 |
C |
A |
1: 173,878,191 (GRCm39) |
T84N |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,729,016 (GRCm39) |
E790G |
probably benign |
Het |
Psmd12 |
A |
G |
11: 107,376,607 (GRCm39) |
D81G |
probably benign |
Het |
Rnf144b |
A |
G |
13: 47,396,359 (GRCm39) |
H232R |
probably damaging |
Het |
Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
Slc16a4 |
A |
T |
3: 107,208,102 (GRCm39) |
N204I |
probably benign |
Het |
Socs1 |
T |
C |
16: 10,602,404 (GRCm39) |
N111S |
probably damaging |
Het |
Srpra |
A |
G |
9: 35,126,017 (GRCm39) |
N432D |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,034,708 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
A |
G |
6: 72,593,055 (GRCm39) |
S142P |
possibly damaging |
Het |
Trbv13-1 |
A |
G |
6: 41,093,169 (GRCm39) |
N34S |
probably benign |
Het |
Vmn2r26 |
T |
C |
6: 124,016,754 (GRCm39) |
V406A |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,088 (GRCm39) |
G79V |
probably damaging |
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 |
IGL02987:Gfral
|
APN |
9 |
76,104,583 (GRCm39) |
missense |
possibly damaging |
0.82 |
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 |