Incidental Mutation 'R4487:Ngf'
| ID |
331652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ngf
|
| Ensembl Gene |
ENSMUSG00000027859 |
| Gene Name |
nerve growth factor |
| Synonyms |
Ngfb |
| MMRRC Submission |
041743-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R4487 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
102377235-102428329 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102428015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 255
(D255N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035952]
[ENSMUST00000106925]
[ENSMUST00000198644]
|
| AlphaFold |
P01139 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035952
AA Change: D193N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040345
Gene: ENSMUSG00000027859
AA Change: D193N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
NGF
|
128 |
232 |
1.41e-78 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106925
AA Change: D259N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102538
Gene: ENSMUSG00000027859
AA Change: D259N
| Domain | Start | End | E-Value | Type |
|---|
|
NGF
|
194 |
298 |
1.41e-78 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198644
AA Change: D255N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142801
Gene: ENSMUSG00000027859
AA Change: D255N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
NGF
|
190 |
294 |
7.1e-81 |
SMART |
|
| Meta Mutation Damage Score |
0.8248 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
A |
G |
9: 50,651,931 (GRCm39) |
L99P |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,588,185 (GRCm39) |
I4467T |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,622 (GRCm39) |
D1500E |
possibly damaging |
Het |
| C1ql2 |
A |
T |
1: 120,269,409 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,512 (GRCm39) |
S891P |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif9 |
A |
G |
9: 110,323,552 (GRCm39) |
E225G |
probably null |
Het |
| Krt76 |
T |
C |
15: 101,798,917 (GRCm39) |
K256R |
possibly damaging |
Het |
| Mapk4 |
T |
C |
18: 74,064,046 (GRCm39) |
D392G |
probably damaging |
Het |
| Mthfr |
A |
G |
4: 148,135,884 (GRCm39) |
K278R |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,960,547 (GRCm39) |
E18V |
probably damaging |
Het |
| Nepro |
A |
G |
16: 44,556,089 (GRCm39) |
K416E |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,491,909 (GRCm39) |
|
probably null |
Het |
| Nt5m |
A |
G |
11: 59,739,173 (GRCm39) |
Y73C |
probably damaging |
Het |
| Oaz3 |
A |
T |
3: 94,342,437 (GRCm39) |
|
probably null |
Het |
| Pgap1 |
A |
G |
1: 54,567,751 (GRCm39) |
S365P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,429,498 (GRCm39) |
I440T |
possibly damaging |
Het |
| Raph1 |
C |
T |
1: 60,542,028 (GRCm39) |
S362N |
possibly damaging |
Het |
| Rftn2 |
A |
G |
1: 55,241,311 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Rhot2 |
G |
A |
17: 26,058,467 (GRCm39) |
H580Y |
probably benign |
Het |
| Rnase2a |
A |
T |
14: 51,493,302 (GRCm39) |
M21K |
unknown |
Het |
| Rusf1 |
T |
C |
7: 127,887,530 (GRCm39) |
D24G |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Snx1 |
A |
T |
9: 65,996,877 (GRCm39) |
V459E |
possibly damaging |
Het |
| Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
| Tg |
G |
A |
15: 66,543,245 (GRCm39) |
C53Y |
probably damaging |
Het |
| Tor1aip1 |
G |
T |
1: 155,882,870 (GRCm39) |
T326K |
probably damaging |
Het |
| Vmn1r61 |
C |
A |
7: 5,613,924 (GRCm39) |
C130F |
possibly damaging |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R5158:Ngf
|
UTSW |
3 |
102,427,445 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- TCAGTGTGTGACAGTGTCAG -3'
(R):5'- CAAGTGTCGGTATACAGGATGC -3'
Sequencing Primer
(F):5'- CAGTGTGTGGGTTGGAGATAAGAC -3'
(R):5'- ATAATTTACAGGCTGAGGTAGGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation