Incidental Mutation 'R1275:Gfral'
| ID |
150868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfral
|
| Ensembl Gene |
ENSMUSG00000059383 |
| Gene Name |
GDNF family receptor alpha like |
| Synonyms |
GRAL |
| MMRRC Submission |
039341-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1275 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
76071389-76120939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76104314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 233
(C233R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074880]
[ENSMUST00000184693]
|
| AlphaFold |
Q6SJE0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074880
AA Change: C233R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074421
Gene: ENSMUSG00000059383
AA Change: C233R
| 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 damaging
Transcript: ENSMUST00000184693
AA Change: C233R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139120
Gene: ENSMUSG00000059383
AA Change: C233R
| 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 |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdhr18 |
T |
C |
14: 13,896,949 (GRCm38) |
Y142C |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,339,483 (GRCm39) |
V793I |
probably benign |
Het |
| Coro1a |
C |
T |
7: 126,299,755 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Efcab14 |
T |
G |
4: 115,613,670 (GRCm39) |
L206R |
probably damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,777,007 (GRCm39) |
|
probably null |
Het |
| Fosl2 |
C |
T |
5: 32,307,798 (GRCm39) |
R130W |
probably damaging |
Het |
| Ino80 |
T |
C |
2: 119,257,536 (GRCm39) |
T765A |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,400,984 (GRCm39) |
|
probably null |
Het |
| Myo15b |
CGGAGGAGGAGGAGGAGGAG |
CGGAGGAGGAGGAGGAG |
11: 115,774,318 (GRCm39) |
|
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,099 (GRCm39) |
E315G |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,006,220 (GRCm39) |
M16K |
probably benign |
Het |
| Rassf7 |
T |
A |
7: 140,797,060 (GRCm39) |
L91Q |
probably damaging |
Het |
| Shld1 |
T |
C |
2: 132,534,015 (GRCm39) |
S48P |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,235,366 (GRCm39) |
K3318R |
probably damaging |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
| Zfp930 |
A |
G |
8: 69,680,631 (GRCm39) |
K108E |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGGCCATCACAGTTCCTCATAG -3'
(R):5'- TGCCAAGCAGCCATACGGTTCTTC -3'
Sequencing Primer
(F):5'- TGAATTTCAAAAAGGGTGCCAC -3'
(R):5'- ACGGTTCTTCTATCAAAATATGCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation