Incidental Mutation 'IGL01528:Gfra2'
| ID |
89628 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gfra2
|
| Ensembl Gene |
ENSMUSG00000022103 |
| Gene Name |
glial cell line derived neurotrophic factor family receptor alpha 2 |
| Synonyms |
GFR alpha 2, GFR alpha-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
IGL01528
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
71127560-71217278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71203738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 296
(S296P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022699]
[ENSMUST00000227633]
[ENSMUST00000227697]
|
| AlphaFold |
O08842 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022699
AA Change: S296P
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022699
Gene: ENSMUSG00000022103
AA Change: S296P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
GDNF
|
40 |
117 |
1.76e-15 |
SMART |
|
GDNF
|
161 |
241 |
3.7e-23 |
SMART |
|
GDNF
|
251 |
347 |
1.74e-28 |
SMART |
|
low complexity region
|
381 |
397 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227633
AA Change: S39P
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227697
AA Change: S163P
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is part of the receptor complex that transduces glial cell-derived neurotrophic factor and neurturin signals by mediating autophosphorylation and activation of the RET receptor. Mice lacking this protein are viable and fertile but display growth retardation attributed to impaired salivary and pancreatic secretion and innervation deficits in the intestinal tract. In addition, knockout mice display neural defects including a failure to initiate outgrowth of dorsal ganglion root neurons, demonstrating a requirement in neuronal differentiation of these cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous mutants have dry eyes, poor postweaning growth associated with impaired parasympathetic cholinergic innervation of lacrimal and salivary glands and of small intestine, reduced skin thickness and accelerated hair follicle regression. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
T |
A |
9: 21,451,190 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
A |
G |
16: 18,630,311 (GRCm39) |
F2S |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,381,403 (GRCm39) |
R598G |
possibly damaging |
Het |
| Cemip2 |
T |
C |
19: 21,812,909 (GRCm39) |
V1038A |
possibly damaging |
Het |
| Dusp22 |
C |
T |
13: 30,889,611 (GRCm39) |
T64I |
probably benign |
Het |
| Gfer |
T |
A |
17: 24,914,903 (GRCm39) |
T47S |
probably benign |
Het |
| Gjb2 |
G |
A |
14: 57,338,125 (GRCm39) |
L28F |
probably damaging |
Het |
| Gm17782 |
A |
G |
17: 36,472,682 (GRCm39) |
|
probably benign |
Het |
| Gm2832 |
T |
C |
14: 41,003,670 (GRCm39) |
V167A |
unknown |
Het |
| Gpr155 |
A |
G |
2: 73,192,767 (GRCm39) |
|
probably null |
Het |
| Gpr45 |
A |
G |
1: 43,072,383 (GRCm39) |
H342R |
probably benign |
Het |
| Gsdmd |
A |
T |
15: 75,735,354 (GRCm39) |
T33S |
possibly damaging |
Het |
| Hal |
T |
A |
10: 93,333,455 (GRCm39) |
L341Q |
probably damaging |
Het |
| Igfbp7 |
T |
G |
5: 77,499,179 (GRCm39) |
D273A |
probably damaging |
Het |
| Kdm2a |
T |
C |
19: 4,393,083 (GRCm39) |
D424G |
probably benign |
Het |
| Kif13a |
C |
T |
13: 47,018,313 (GRCm39) |
|
probably benign |
Het |
| Krt35 |
A |
T |
11: 99,985,420 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,809,194 (GRCm39) |
D2572E |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,322,804 (GRCm39) |
V1848A |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,686,957 (GRCm39) |
Y21H |
probably damaging |
Het |
| Ncan |
G |
T |
8: 70,562,731 (GRCm39) |
A509E |
probably benign |
Het |
| Or2q1 |
T |
C |
6: 42,795,208 (GRCm39) |
S268P |
probably damaging |
Het |
| Pde11a |
G |
A |
2: 76,025,300 (GRCm39) |
|
probably benign |
Het |
| Phf19 |
G |
T |
2: 34,787,119 (GRCm39) |
D448E |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,282,488 (GRCm39) |
V799D |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,349,634 (GRCm39) |
Y7* |
probably null |
Het |
| Sema3c |
A |
G |
5: 17,919,413 (GRCm39) |
H483R |
probably benign |
Het |
| Slc4a11 |
A |
G |
2: 130,527,328 (GRCm39) |
|
probably benign |
Het |
| St3gal1 |
C |
A |
15: 66,984,466 (GRCm39) |
R103L |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,186,059 (GRCm39) |
V1126E |
possibly damaging |
Het |
| Tmem117 |
A |
T |
15: 94,992,545 (GRCm39) |
I402L |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,249,826 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,702,182 (GRCm39) |
|
probably benign |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,532 (GRCm39) |
M243L |
probably benign |
Het |
| Wnt1 |
G |
T |
15: 98,689,714 (GRCm39) |
W167L |
probably damaging |
Het |
| Zfp553 |
G |
T |
7: 126,835,387 (GRCm39) |
S314I |
probably damaging |
Het |
| Zranb2 |
T |
C |
3: 157,250,602 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gfra2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00424:Gfra2
|
APN |
14 |
71,205,679 (GRCm39) |
splice site |
probably benign |
|
|
IGL01303:Gfra2
|
APN |
14 |
71,133,292 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01380:Gfra2
|
APN |
14 |
71,204,586 (GRCm39) |
splice site |
probably benign |
|
|
IGL02203:Gfra2
|
APN |
14 |
71,204,524 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02270:Gfra2
|
APN |
14 |
71,163,347 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03104:Gfra2
|
APN |
14 |
71,205,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03270:Gfra2
|
APN |
14 |
71,163,344 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
H8562:Gfra2
|
UTSW |
14 |
71,215,818 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
H8786:Gfra2
|
UTSW |
14 |
71,215,818 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0423:Gfra2
|
UTSW |
14 |
71,133,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4120:Gfra2
|
UTSW |
14 |
71,203,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4172:Gfra2
|
UTSW |
14 |
71,133,521 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4712:Gfra2
|
UTSW |
14 |
71,163,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4804:Gfra2
|
UTSW |
14 |
71,163,361 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4902:Gfra2
|
UTSW |
14 |
71,204,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5424:Gfra2
|
UTSW |
14 |
71,133,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6711:Gfra2
|
UTSW |
14 |
71,203,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Gfra2
|
UTSW |
14 |
71,163,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7322:Gfra2
|
UTSW |
14 |
71,205,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7814:Gfra2
|
UTSW |
14 |
71,133,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8159:Gfra2
|
UTSW |
14 |
71,133,397 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8557:Gfra2
|
UTSW |
14 |
71,214,737 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8831:Gfra2
|
UTSW |
14 |
71,204,503 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8833:Gfra2
|
UTSW |
14 |
71,163,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Gfra2
|
UTSW |
14 |
71,138,935 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9073:Gfra2
|
UTSW |
14 |
71,138,935 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9444:Gfra2
|
UTSW |
14 |
71,203,751 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1177:Gfra2
|
UTSW |
14 |
71,215,932 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation