Incidental Mutation 'R5791:Gfral'
ID |
446979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gfral
|
Ensembl Gene |
ENSMUSG00000059383 |
Gene Name |
GDNF family receptor alpha like |
Synonyms |
GRAL |
MMRRC Submission |
043207-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R5791 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
76071389-76120939 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76104328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 228
(R228Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139120
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074880]
[ENSMUST00000184693]
|
AlphaFold |
Q6SJE0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074880
AA Change: R228Q
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000074421 Gene: ENSMUSG00000059383 AA Change: R228Q
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 |
probably benign
Transcript: ENSMUST00000184693
AA Change: R228Q
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000139120 Gene: ENSMUSG00000059383 AA Change: R228Q
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
G |
C |
8: 41,207,257 (GRCm39) |
Q174H |
probably benign |
Het |
Adipor2 |
A |
T |
6: 119,338,866 (GRCm39) |
M129K |
possibly damaging |
Het |
Arhgap29 |
T |
A |
3: 121,807,894 (GRCm39) |
M616K |
probably damaging |
Het |
Calcrl |
A |
T |
2: 84,181,609 (GRCm39) |
F180I |
probably damaging |
Het |
Cdh4 |
T |
C |
2: 179,537,560 (GRCm39) |
V864A |
probably damaging |
Het |
Cep78 |
A |
G |
19: 15,938,436 (GRCm39) |
F504S |
probably benign |
Het |
Coasy |
A |
G |
11: 100,975,211 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
C |
7: 119,530,696 (GRCm39) |
N751S |
probably benign |
Het |
Ecpas |
C |
T |
4: 58,814,027 (GRCm39) |
E1360K |
possibly damaging |
Het |
Ecpas |
T |
A |
4: 58,822,111 (GRCm39) |
D1152V |
probably damaging |
Het |
Eea1 |
T |
A |
10: 95,855,857 (GRCm39) |
N631K |
probably benign |
Het |
Fam149b |
A |
G |
14: 20,401,394 (GRCm39) |
K27R |
probably damaging |
Het |
Fbxw26 |
A |
G |
9: 109,574,221 (GRCm39) |
W42R |
probably damaging |
Het |
Gas6 |
A |
G |
8: 13,520,217 (GRCm39) |
|
probably null |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gmppa |
T |
C |
1: 75,418,899 (GRCm39) |
V324A |
possibly damaging |
Het |
Gstm2 |
C |
T |
3: 107,891,444 (GRCm39) |
|
probably null |
Het |
Kcng3 |
A |
G |
17: 83,895,639 (GRCm39) |
S276P |
probably benign |
Het |
Lrrd1 |
T |
C |
5: 3,901,254 (GRCm39) |
S520P |
probably benign |
Het |
Lrrn2 |
A |
G |
1: 132,865,505 (GRCm39) |
N190S |
probably benign |
Het |
Lrwd1 |
G |
C |
5: 136,159,887 (GRCm39) |
A392G |
probably benign |
Het |
Mab21l2 |
A |
G |
3: 86,454,044 (GRCm39) |
Y319H |
probably damaging |
Het |
Ndufv3 |
A |
G |
17: 31,746,382 (GRCm39) |
N91D |
probably benign |
Het |
Nfatc2 |
T |
A |
2: 168,378,313 (GRCm39) |
M451L |
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,918,030 (GRCm39) |
S72T |
probably damaging |
Het |
Pcdhgb2 |
G |
T |
18: 37,825,393 (GRCm39) |
V795F |
possibly damaging |
Het |
Pdcd11 |
T |
A |
19: 47,099,430 (GRCm39) |
M843K |
possibly damaging |
Het |
Pla2g4c |
T |
A |
7: 13,073,617 (GRCm39) |
N221K |
probably benign |
Het |
Ppox |
T |
C |
1: 171,104,885 (GRCm39) |
Y422C |
probably damaging |
Het |
Retreg3 |
A |
G |
11: 100,991,769 (GRCm39) |
S55P |
probably damaging |
Het |
Rnf103 |
C |
A |
6: 71,485,909 (GRCm39) |
T180K |
probably damaging |
Het |
Tbl3 |
A |
T |
17: 24,923,408 (GRCm39) |
L307H |
probably damaging |
Het |
Tex26 |
A |
T |
5: 149,363,240 (GRCm39) |
|
probably null |
Het |
Tln2 |
A |
T |
9: 67,293,887 (GRCm39) |
I247K |
probably damaging |
Het |
Txlnb |
T |
C |
10: 17,674,876 (GRCm39) |
S10P |
probably benign |
Het |
Vwde |
C |
A |
6: 13,195,985 (GRCm39) |
E347* |
probably null |
Het |
Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
Zfp14 |
A |
G |
7: 29,737,687 (GRCm39) |
S433P |
probably damaging |
Het |
Zfp647 |
G |
T |
15: 76,802,206 (GRCm39) |
A2E |
unknown |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGGGTGCCACAACACATG -3'
(R):5'- GGAAATCTGTGTGATGTGAAACAC -3'
Sequencing Primer
(F):5'- CACATGTACCACAGATTCAAAATGTG -3'
(R):5'- CTGTGTGATGTGAAACACTGCCAAG -3'
|
Posted On |
2016-12-15 |