Incidental Mutation 'IGL02675:Gfra1'
| ID |
303072 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gfra1
|
| Ensembl Gene |
ENSMUSG00000025089 |
| Gene Name |
glial cell line derived neurotrophic factor family receptor alpha 1 |
| Synonyms |
GFR alpha-1, GDNFR-alpha |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02675
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
58224036-58444341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58441787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 48
(T48I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026076]
[ENSMUST00000123957]
[ENSMUST00000129100]
[ENSMUST00000131877]
[ENSMUST00000135730]
[ENSMUST00000138530]
[ENSMUST00000140141]
[ENSMUST00000169850]
[ENSMUST00000152507]
|
| AlphaFold |
P97785 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026076
AA Change: T48I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026076
Gene: ENSMUSG00000025089
AA Change: T48I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GDNF
|
29 |
111 |
1.96e-13 |
SMART |
|
GDNF
|
154 |
233 |
6.55e-24 |
SMART |
|
GDNF
|
243 |
337 |
1.62e-28 |
SMART |
|
low complexity region
|
362 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123957
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129100
AA Change: T48I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117196
Gene: ENSMUSG00000025089
AA Change: T48I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GDNF
|
29 |
111 |
1.96e-13 |
SMART |
|
GDNF
|
149 |
228 |
6.55e-24 |
SMART |
|
GDNF
|
238 |
332 |
1.62e-28 |
SMART |
|
low complexity region
|
357 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
460 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131877
AA Change: T48I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135730
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138530
AA Change: T48I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115239
Gene: ENSMUSG00000025089
AA Change: T48I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Blast:GDNF
|
29 |
54 |
2e-10 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140141
AA Change: T48I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123022
Gene: ENSMUSG00000025089
AA Change: T48I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GDNF
|
29 |
111 |
1.96e-13 |
SMART |
|
GDNF
|
154 |
233 |
6.55e-24 |
SMART |
|
GDNF
|
243 |
337 |
1.62e-28 |
SMART |
|
low complexity region
|
362 |
370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169850
AA Change: T48I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130128
Gene: ENSMUSG00000025089
AA Change: T48I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GDNF
|
29 |
111 |
1.96e-13 |
SMART |
|
GDNF
|
154 |
233 |
6.55e-24 |
SMART |
|
GDNF
|
243 |
337 |
1.62e-28 |
SMART |
|
low complexity region
|
362 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152507
AA Change: T48I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120333
Gene: ENSMUSG00000025089
AA Change: T48I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
GDNF
|
29 |
111 |
1.96e-13 |
SMART |
|
GDNF
|
154 |
233 |
6.55e-24 |
SMART |
|
GDNF
|
243 |
337 |
1.62e-28 |
SMART |
|
low complexity region
|
362 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
465 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a transmembrane protein that functions as the receptor for glial cell line derived neurotrophic factor (GDNF). The encoded protein undergoes proteolytic processing to generate a glycosylphosphatidylinositol-anchored cell surface coreceptor that forms a complex with the Ret tyrosine kinase in GDNF signaling pathway. Mice lacking the encoded protein exhibit deficits in the kidneys, the enteric nervous system, and spinal motor and sensory neurons similar mice deficient in GDNF or Ret. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for targeted null mutations lack kidneys and enteric neurons resulting in neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano8 |
A |
G |
8: 71,936,184 (GRCm39) |
I204T |
probably damaging |
Het |
| Anxa8 |
A |
G |
14: 33,815,371 (GRCm39) |
D150G |
probably damaging |
Het |
| Arel1 |
T |
C |
12: 84,977,002 (GRCm39) |
T438A |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,546,006 (GRCm39) |
|
probably benign |
Het |
| Bcl2l12 |
A |
T |
7: 44,640,824 (GRCm39) |
|
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,055,602 (GRCm39) |
I87T |
probably damaging |
Het |
| Ccdc80 |
A |
C |
16: 44,936,695 (GRCm39) |
T707P |
probably damaging |
Het |
| Ccn6 |
A |
G |
10: 39,027,236 (GRCm39) |
V332A |
possibly damaging |
Het |
| Cdh9 |
T |
A |
15: 16,849,162 (GRCm39) |
|
probably null |
Het |
| Chrd |
T |
C |
16: 20,558,699 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
T |
C |
19: 43,969,369 (GRCm39) |
Q98R |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,420 (GRCm39) |
S583P |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,543,183 (GRCm39) |
I2329T |
possibly damaging |
Het |
| Egln3 |
A |
G |
12: 54,249,996 (GRCm39) |
S118P |
probably benign |
Het |
| Hapln3 |
C |
T |
7: 78,767,596 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
T |
C |
8: 88,871,185 (GRCm39) |
F180L |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,849 (GRCm39) |
S2661T |
probably damaging |
Het |
| Hook3 |
A |
T |
8: 26,551,462 (GRCm39) |
L126Q |
possibly damaging |
Het |
| Hoxd8 |
T |
G |
2: 74,536,930 (GRCm39) |
L214R |
probably damaging |
Het |
| Ifna1 |
T |
G |
4: 88,768,670 (GRCm39) |
L116R |
probably damaging |
Het |
| Il31ra |
T |
A |
13: 112,660,886 (GRCm39) |
T487S |
probably benign |
Het |
| Kifc2 |
C |
T |
15: 76,547,179 (GRCm39) |
R252W |
probably damaging |
Het |
| Meox2 |
A |
G |
12: 37,228,333 (GRCm39) |
D290G |
probably damaging |
Het |
| Micu2 |
A |
G |
14: 58,182,834 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,673,130 (GRCm39) |
T406A |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,545,626 (GRCm39) |
M1301L |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,828,244 (GRCm39) |
L1341P |
possibly damaging |
Het |
| Pcna-ps2 |
C |
A |
19: 9,261,323 (GRCm39) |
A194E |
probably benign |
Het |
| Pdcd10 |
G |
A |
3: 75,434,901 (GRCm39) |
T130I |
probably damaging |
Het |
| Pprc1 |
G |
A |
19: 46,051,946 (GRCm39) |
G491D |
probably damaging |
Het |
| Prss57 |
A |
G |
10: 79,623,309 (GRCm39) |
V46A |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,860,426 (GRCm39) |
|
probably null |
Het |
| Riok1 |
C |
T |
13: 38,234,219 (GRCm39) |
P262S |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,686,817 (GRCm39) |
N70S |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,839,178 (GRCm39) |
D157E |
probably benign |
Het |
| Sri |
T |
C |
5: 8,117,534 (GRCm39) |
F191S |
probably damaging |
Het |
| Stat5b |
T |
C |
11: 100,678,200 (GRCm39) |
R638G |
probably benign |
Het |
| Suds3 |
C |
T |
5: 117,232,970 (GRCm39) |
|
probably null |
Het |
| Tmem19 |
A |
G |
10: 115,178,478 (GRCm39) |
L281P |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,141,003 (GRCm39) |
|
probably benign |
Het |
| Trio |
A |
G |
15: 27,768,125 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,950,391 (GRCm39) |
I940T |
possibly damaging |
Het |
| Zfp280d |
T |
A |
9: 72,219,504 (GRCm39) |
I227K |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,752,609 (GRCm39) |
V45A |
probably benign |
Het |
|
| Other mutations in Gfra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00820:Gfra1
|
APN |
19 |
58,252,337 (GRCm39) |
splice site |
probably benign |
|
|
IGL01633:Gfra1
|
APN |
19 |
58,255,479 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02676:Gfra1
|
APN |
19 |
58,441,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02677:Gfra1
|
APN |
19 |
58,441,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02723:Gfra1
|
APN |
19 |
58,441,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
3-1:Gfra1
|
UTSW |
19 |
58,286,999 (GRCm39) |
intron |
probably benign |
|
|
R0245:Gfra1
|
UTSW |
19 |
58,288,986 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0652:Gfra1
|
UTSW |
19 |
58,288,986 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0697:Gfra1
|
UTSW |
19 |
58,258,555 (GRCm39) |
missense |
probably benign |
|
|
R0699:Gfra1
|
UTSW |
19 |
58,258,555 (GRCm39) |
missense |
probably benign |
|
|
R1344:Gfra1
|
UTSW |
19 |
58,226,849 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1418:Gfra1
|
UTSW |
19 |
58,226,849 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1468:Gfra1
|
UTSW |
19 |
58,440,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1468:Gfra1
|
UTSW |
19 |
58,440,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2001:Gfra1
|
UTSW |
19 |
58,288,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2866:Gfra1
|
UTSW |
19 |
58,227,739 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3416:Gfra1
|
UTSW |
19 |
58,255,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4352:Gfra1
|
UTSW |
19 |
58,255,456 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4564:Gfra1
|
UTSW |
19 |
58,227,682 (GRCm39) |
splice site |
probably null |
|
|
R4727:Gfra1
|
UTSW |
19 |
58,252,386 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4755:Gfra1
|
UTSW |
19 |
58,441,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Gfra1
|
UTSW |
19 |
58,255,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Gfra1
|
UTSW |
19 |
58,255,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Gfra1
|
UTSW |
19 |
58,255,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Gfra1
|
UTSW |
19 |
58,227,687 (GRCm39) |
missense |
probably benign |
|
|
R6225:Gfra1
|
UTSW |
19 |
58,226,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Gfra1
|
UTSW |
19 |
58,442,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Gfra1
|
UTSW |
19 |
58,288,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7624:Gfra1
|
UTSW |
19 |
58,226,878 (GRCm39) |
missense |
probably benign |
|
|
R7718:Gfra1
|
UTSW |
19 |
58,441,889 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9659:Gfra1
|
UTSW |
19 |
58,441,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9788:Gfra1
|
UTSW |
19 |
58,441,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation