Incidental Mutation 'R8159:Gfra2'
| ID |
633448 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
067585-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.250)
|
| Stock # |
R8159 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
71127560-71217278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71133397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 76
(K76E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022699]
|
| AlphaFold |
O08842 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022699
AA Change: K76E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022699
Gene: ENSMUSG00000022103
AA Change: K76E
| 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 |
|
| Meta Mutation Damage Score |
0.0945 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
100% (49/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
C |
A |
3: 59,843,843 (GRCm39) |
P179Q |
probably damaging |
Het |
| Abcc1 |
C |
T |
16: 14,290,794 (GRCm39) |
T1468I |
probably damaging |
Het |
| Adrb3 |
A |
C |
8: 27,718,099 (GRCm39) |
C117G |
probably benign |
Het |
| Aff4 |
A |
T |
11: 53,302,721 (GRCm39) |
S1065C |
possibly damaging |
Het |
| Agrn |
G |
A |
4: 156,256,825 (GRCm39) |
A1260V |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,488,963 (GRCm39) |
|
probably null |
Het |
| BC005537 |
T |
A |
13: 24,993,916 (GRCm39) |
H159Q |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,274,488 (GRCm39) |
D625G |
probably benign |
Het |
| Cd72 |
A |
G |
4: 43,450,174 (GRCm39) |
Y245H |
probably damaging |
Het |
| Ceacam20 |
G |
T |
7: 19,710,109 (GRCm39) |
V378L |
probably damaging |
Het |
| Chpf |
C |
T |
1: 75,455,436 (GRCm39) |
R105K |
probably null |
Het |
| Chst9 |
A |
T |
18: 15,585,365 (GRCm39) |
Y399* |
probably null |
Het |
| Cntn5 |
A |
G |
9: 10,145,386 (GRCm39) |
I108T |
possibly damaging |
Het |
| Col14a1 |
A |
G |
15: 55,291,324 (GRCm39) |
T931A |
unknown |
Het |
| D630045J12Rik |
T |
C |
6: 38,105,410 (GRCm39) |
H1890R |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 131,880,739 (GRCm39) |
I128T |
probably benign |
Het |
| Ece2 |
C |
T |
16: 20,430,534 (GRCm39) |
P54S |
probably damaging |
Het |
| Fhip2a |
T |
C |
19: 57,372,697 (GRCm39) |
|
probably null |
Het |
| Fry |
A |
T |
5: 150,322,998 (GRCm39) |
T1050S |
probably benign |
Het |
| Gigyf1 |
A |
T |
5: 137,520,457 (GRCm39) |
D423V |
unknown |
Het |
| Gpr180 |
G |
A |
14: 118,391,302 (GRCm39) |
G235R |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,369,003 (GRCm39) |
Q403R |
probably null |
Het |
| Hes5 |
A |
G |
4: 155,045,502 (GRCm39) |
N17S |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,707,735 (GRCm39) |
L59H |
probably damaging |
Het |
| Irs1 |
A |
C |
1: 82,266,290 (GRCm39) |
I642S |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,306,633 (GRCm39) |
V363A |
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,028,238 (GRCm39) |
H983R |
possibly damaging |
Het |
| Nynrin |
T |
G |
14: 56,100,587 (GRCm39) |
S126A |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,102,517 (GRCm39) |
M729L |
probably benign |
Het |
| Or51v14 |
G |
A |
7: 103,261,347 (GRCm39) |
T71I |
possibly damaging |
Het |
| Or7e178 |
A |
C |
9: 20,226,015 (GRCm39) |
I67S |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,537,538 (GRCm39) |
G1257D |
probably benign |
Het |
| Pals2 |
A |
T |
6: 50,171,527 (GRCm39) |
E392V |
probably benign |
Het |
| Pcdhgc5 |
A |
G |
18: 37,954,175 (GRCm39) |
E483G |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,680,747 (GRCm39) |
E20G |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,001,662 (GRCm39) |
I1251V |
probably benign |
Het |
| Rfx2 |
A |
T |
17: 57,110,605 (GRCm39) |
M127K |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,312,407 (GRCm39) |
N668S |
probably benign |
Het |
| Smg6 |
G |
A |
11: 74,929,465 (GRCm39) |
V965M |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,202,314 (GRCm39) |
H2104Q |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,069,396 (GRCm39) |
E2797K |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,087,815 (GRCm39) |
S1755G |
probably benign |
Het |
| Sycp2 |
A |
C |
2: 177,996,770 (GRCm39) |
S1144R |
probably damaging |
Het |
| Tsen54 |
T |
A |
11: 115,711,804 (GRCm39) |
L407* |
probably null |
Het |
| Uba1y |
T |
A |
Y: 828,806 (GRCm39) |
I538K |
possibly damaging |
Het |
| Vil1 |
C |
A |
1: 74,463,136 (GRCm39) |
H440N |
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 |
|
|
IGL01528:Gfra2
|
APN |
14 |
71,203,738 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAAACCCTCCGCTCTTTG -3'
(R):5'- ATCAGGTCACCCTTTTACCAAG -3'
Sequencing Primer
(F):5'- TCCGCTCTTTGGCCAGC -3'
(R):5'- TCTGGATCCCTGGCCAGATC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation