Incidental Mutation 'R5158:Ngf'
ID |
396817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ngf
|
Ensembl Gene |
ENSMUSG00000027859 |
Gene Name |
nerve growth factor |
Synonyms |
Ngfb |
MMRRC Submission |
042740-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.668)
|
Stock # |
R5158 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
102377235-102428329 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 102427445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 65
(M65L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142801
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035952]
[ENSMUST00000106925]
[ENSMUST00000198644]
|
AlphaFold |
P01139 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035952
AA Change: M3L
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000040345 Gene: ENSMUSG00000027859 AA Change: M3L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
NGF
|
128 |
232 |
1.41e-78 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106925
AA Change: M69L
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102538 Gene: ENSMUSG00000027859 AA Change: M69L
Domain | Start | End | E-Value | Type |
NGF
|
194 |
298 |
1.41e-78 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198644
AA Change: M65L
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142801 Gene: ENSMUSG00000027859 AA Change: M65L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
NGF
|
190 |
294 |
7.1e-81 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhinitis. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mutants exhibit elevated pain threshold, loss of neurons in both sensory and sympathetic ganglia, but diminished apoptosis in the retina and spinal cord. Heterozygotes exhibit a substantially reduced number of sympathetic neurons. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted(3)
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
C |
T |
17: 45,825,755 (GRCm39) |
T357I |
probably benign |
Het |
Abca14 |
A |
T |
7: 119,852,652 (GRCm39) |
R872S |
probably benign |
Het |
Adnp2 |
A |
G |
18: 80,180,758 (GRCm39) |
Y47H |
probably damaging |
Het |
Atp6v0d2 |
T |
C |
4: 19,878,292 (GRCm39) |
N327S |
probably damaging |
Het |
Ccdc190 |
A |
G |
1: 169,760,578 (GRCm39) |
R69G |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,901,059 (GRCm39) |
D213G |
probably damaging |
Het |
Clcn4 |
G |
A |
7: 7,294,618 (GRCm39) |
T381I |
possibly damaging |
Het |
Cobl |
A |
G |
11: 12,206,198 (GRCm39) |
F477S |
possibly damaging |
Het |
Ctdspl2 |
T |
A |
2: 121,811,774 (GRCm39) |
V205E |
probably benign |
Het |
Dhx37 |
A |
T |
5: 125,492,216 (GRCm39) |
Y1128N |
probably damaging |
Het |
Ehmt2 |
G |
A |
17: 35,130,640 (GRCm39) |
E1085K |
probably damaging |
Het |
Fam149a |
T |
G |
8: 45,803,472 (GRCm39) |
I340L |
possibly damaging |
Het |
Fut9 |
T |
A |
4: 25,620,731 (GRCm39) |
I28F |
probably benign |
Het |
Il36g |
T |
A |
2: 24,082,798 (GRCm39) |
I191K |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,392,816 (GRCm39) |
N716D |
probably benign |
Het |
Itgb7 |
T |
C |
15: 102,125,464 (GRCm39) |
D672G |
probably benign |
Het |
Kat6b |
A |
G |
14: 21,720,054 (GRCm39) |
M1469V |
possibly damaging |
Het |
Kif3a |
T |
C |
11: 53,479,578 (GRCm39) |
F430L |
probably benign |
Het |
L3mbtl3 |
T |
C |
10: 26,179,586 (GRCm39) |
D523G |
unknown |
Het |
Mcf2l |
A |
G |
8: 13,059,715 (GRCm39) |
Q736R |
probably damaging |
Het |
Mpl |
T |
G |
4: 118,313,881 (GRCm39) |
D128A |
probably damaging |
Het |
Myom3 |
T |
A |
4: 135,492,897 (GRCm39) |
C149S |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,965,805 (GRCm39) |
I1285V |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,753,149 (GRCm39) |
Q279R |
probably damaging |
Het |
Ndc1 |
T |
G |
4: 107,232,362 (GRCm39) |
S182R |
probably damaging |
Het |
Or2n1 |
T |
A |
17: 38,486,345 (GRCm39) |
Y123* |
probably null |
Het |
Pigb |
T |
C |
9: 72,929,683 (GRCm39) |
Y300C |
probably damaging |
Het |
Pla2g2a |
T |
G |
4: 138,560,595 (GRCm39) |
*69G |
probably null |
Het |
Ppp1r12b |
T |
C |
1: 134,814,166 (GRCm39) |
E379G |
probably damaging |
Het |
Ptdss2 |
T |
C |
7: 140,731,684 (GRCm39) |
F164S |
probably benign |
Het |
Ptprc |
T |
C |
1: 138,102,822 (GRCm39) |
T2A |
possibly damaging |
Het |
Ptprq |
T |
A |
10: 107,370,565 (GRCm39) |
N2042I |
probably damaging |
Het |
Rdh10 |
A |
T |
1: 16,178,221 (GRCm39) |
R164S |
probably damaging |
Het |
Sec31a |
A |
T |
5: 100,541,180 (GRCm39) |
I309N |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,599,409 (GRCm39) |
I710N |
unknown |
Het |
Slc25a30 |
A |
T |
14: 76,008,956 (GRCm39) |
L26Q |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,868,455 (GRCm39) |
V34I |
probably damaging |
Het |
Sult1e1 |
A |
T |
5: 87,735,453 (GRCm39) |
I75N |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,951,885 (GRCm39) |
V938A |
probably benign |
Het |
Vps16 |
C |
T |
2: 130,283,199 (GRCm39) |
R531C |
probably damaging |
Het |
Zbtb22 |
C |
T |
17: 34,137,423 (GRCm39) |
H523Y |
probably damaging |
Het |
Zfp39 |
G |
A |
11: 58,780,671 (GRCm39) |
T697M |
possibly damaging |
Het |
|
Other mutations in Ngf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00555:Ngf
|
APN |
3 |
102,427,788 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01344:Ngf
|
APN |
3 |
102,427,628 (GRCm39) |
missense |
probably benign |
0.00 |
R0049:Ngf
|
UTSW |
3 |
102,427,661 (GRCm39) |
nonsense |
probably null |
|
R0049:Ngf
|
UTSW |
3 |
102,427,661 (GRCm39) |
nonsense |
probably null |
|
R0147:Ngf
|
UTSW |
3 |
102,417,119 (GRCm39) |
intron |
probably benign |
|
R0148:Ngf
|
UTSW |
3 |
102,417,119 (GRCm39) |
intron |
probably benign |
|
R0149:Ngf
|
UTSW |
3 |
102,427,762 (GRCm39) |
missense |
probably benign |
0.13 |
R1769:Ngf
|
UTSW |
3 |
102,427,513 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4357:Ngf
|
UTSW |
3 |
102,427,521 (GRCm39) |
missense |
probably benign |
0.22 |
R4486:Ngf
|
UTSW |
3 |
102,428,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R4487:Ngf
|
UTSW |
3 |
102,428,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R4488:Ngf
|
UTSW |
3 |
102,428,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R4817:Ngf
|
UTSW |
3 |
102,417,156 (GRCm39) |
intron |
probably benign |
|
R4883:Ngf
|
UTSW |
3 |
102,427,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R4938:Ngf
|
UTSW |
3 |
102,427,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R5681:Ngf
|
UTSW |
3 |
102,427,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R6259:Ngf
|
UTSW |
3 |
102,417,113 (GRCm39) |
intron |
probably benign |
|
R7790:Ngf
|
UTSW |
3 |
102,417,140 (GRCm39) |
missense |
unknown |
|
R8544:Ngf
|
UTSW |
3 |
102,427,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R9794:Ngf
|
UTSW |
3 |
102,428,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTGGGTATTGAATCCAGGCTC -3'
(R):5'- ACAGTCTGGGGTCTACAGTG -3'
Sequencing Primer
(F):5'- GGGTATTGAATCCAGGCTCTCTAC -3'
(R):5'- CTGTCACTCGGGCAGCTATTG -3'
|
Posted On |
2016-06-21 |