Incidental Mutation 'R1029:Gfra3'
| ID |
95186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gfra3
|
| Ensembl Gene |
ENSMUSG00000024366 |
| Gene Name |
glial cell line derived neurotrophic factor family receptor alpha 3 |
| Synonyms |
GFR alpha-3, GFRalpha3 |
| MMRRC Submission |
039131-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.287)
|
| Stock # |
R1029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34822951-34853440 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34823892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 361
(T361A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025224]
|
| AlphaFold |
O35118 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025224
AA Change: T361A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000025224
Gene: ENSMUSG00000024366
AA Change: T361A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
GDNF
|
41 |
122 |
1.33e-15 |
SMART |
|
GDNF
|
159 |
236 |
5.57e-18 |
SMART |
|
GDNF
|
245 |
337 |
9.84e-28 |
SMART |
|
low complexity region
|
380 |
393 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1277 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
92% (36/39) |
| MGI Phenotype |
FUNCTION: This gene encodes a cell surface glycoprotein and member of the glial cell line-derived neurotrophic receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein mediates binding of the ligand artemin to the ret receptor tyrosine kinase, and this interaction may regulate thermal pain and axon regeneration. Homozygous knockout mice for this gene exhibit impaired proliferation of cultured neuroblasts and impaired development of the superior cervical ganglion. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruption of this gene display ptosis and poor development of the sympathetic chain ganglia and associated nerves. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
A |
G |
11: 30,376,177 (GRCm39) |
L230S |
probably damaging |
Het |
| 4930505A04Rik |
A |
G |
11: 30,396,389 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,602,032 (GRCm39) |
I1648T |
probably damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,394,817 (GRCm39) |
F236S |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,230,782 (GRCm39) |
D363G |
possibly damaging |
Het |
| Cntn5 |
T |
A |
9: 9,831,577 (GRCm39) |
D601V |
probably damaging |
Het |
| Cog7 |
C |
T |
7: 121,529,752 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
G |
1: 46,651,881 (GRCm39) |
K1365E |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,837,096 (GRCm39) |
|
probably null |
Het |
| Ehd3 |
T |
A |
17: 74,123,321 (GRCm39) |
I108N |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,348,773 (GRCm39) |
S535P |
probably damaging |
Het |
| Fam170a |
T |
C |
18: 50,414,741 (GRCm39) |
V129A |
probably damaging |
Het |
| Gm10295 |
A |
T |
7: 71,000,448 (GRCm39) |
I44K |
unknown |
Het |
| Gm10553 |
T |
C |
1: 85,078,170 (GRCm39) |
S96P |
probably benign |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Hspa13 |
A |
T |
16: 75,562,125 (GRCm39) |
Y25N |
probably damaging |
Het |
| Lrfn3 |
G |
A |
7: 30,055,347 (GRCm39) |
P533S |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,317,372 (GRCm39) |
|
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,911,639 (GRCm39) |
D1991G |
probably benign |
Het |
| Myoz1 |
A |
G |
14: 20,700,600 (GRCm39) |
Y206H |
probably damaging |
Het |
| Or2at1 |
A |
T |
7: 99,416,431 (GRCm39) |
I21F |
probably benign |
Het |
| Otog |
A |
G |
7: 45,924,019 (GRCm39) |
E1126G |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,472,613 (GRCm39) |
|
probably benign |
Het |
| Pttg1ip2 |
C |
T |
5: 5,505,919 (GRCm39) |
A121T |
probably benign |
Het |
| Rab7 |
A |
G |
6: 87,990,624 (GRCm39) |
S17P |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,765,514 (GRCm39) |
S203P |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,439 (GRCm39) |
I314T |
possibly damaging |
Het |
| Tgs1 |
T |
C |
4: 3,593,471 (GRCm39) |
I453T |
probably damaging |
Het |
| Tmem117 |
C |
A |
15: 94,909,217 (GRCm39) |
T210N |
probably benign |
Het |
| Trim55 |
A |
G |
3: 19,698,906 (GRCm39) |
N45S |
probably damaging |
Het |
| Ugt2b34 |
G |
C |
5: 87,052,246 (GRCm39) |
S250* |
probably null |
Het |
| Vmn2r67 |
G |
A |
7: 84,785,974 (GRCm39) |
T677I |
probably damaging |
Het |
| Zfp335 |
C |
G |
2: 164,734,598 (GRCm39) |
|
probably benign |
Het |
| Znrf1 |
T |
A |
8: 112,263,986 (GRCm39) |
Y72N |
probably damaging |
Het |
|
| Other mutations in Gfra3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Gfra3
|
APN |
18 |
34,824,601 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01778:Gfra3
|
APN |
18 |
34,824,644 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02051:Gfra3
|
APN |
18 |
34,828,894 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0107:Gfra3
|
UTSW |
18 |
34,844,359 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0573:Gfra3
|
UTSW |
18 |
34,824,668 (GRCm39) |
missense |
probably benign |
|
|
R1870:Gfra3
|
UTSW |
18 |
34,844,373 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2512:Gfra3
|
UTSW |
18 |
34,837,564 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4689:Gfra3
|
UTSW |
18 |
34,823,640 (GRCm39) |
missense |
unknown |
|
|
R4801:Gfra3
|
UTSW |
18 |
34,853,245 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4802:Gfra3
|
UTSW |
18 |
34,853,245 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4884:Gfra3
|
UTSW |
18 |
34,844,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5824:Gfra3
|
UTSW |
18 |
34,844,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:Gfra3
|
UTSW |
18 |
34,823,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6192:Gfra3
|
UTSW |
18 |
34,837,582 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6228:Gfra3
|
UTSW |
18 |
34,828,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Gfra3
|
UTSW |
18 |
34,828,864 (GRCm39) |
frame shift |
probably null |
|
|
R6759:Gfra3
|
UTSW |
18 |
34,828,926 (GRCm39) |
nonsense |
probably null |
|
|
R6781:Gfra3
|
UTSW |
18 |
34,844,375 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6894:Gfra3
|
UTSW |
18 |
34,828,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Gfra3
|
UTSW |
18 |
34,823,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7232:Gfra3
|
UTSW |
18 |
34,844,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Gfra3
|
UTSW |
18 |
34,828,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8830:Gfra3
|
UTSW |
18 |
34,844,189 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8987:Gfra3
|
UTSW |
18 |
34,823,879 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9329:Gfra3
|
UTSW |
18 |
34,837,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Gfra3
|
UTSW |
18 |
34,837,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCTAAGCCTAAGGGAAGAGTCG -3'
(R):5'- AGTCAAGCATCCATCTTCTGTGCC -3'
Sequencing Primer
(F):5'- TCGTGACTGTCCCCTTCC -3'
(R):5'- CTTGTCTAAGCCCTAAGAACTGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation