Incidental Mutation 'R2298:Ngfr'
ID |
245235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ngfr
|
Ensembl Gene |
ENSMUSG00000000120 |
Gene Name |
nerve growth factor receptor (TNFR superfamily, member 16) |
Synonyms |
p75NTR, p75 neurotrophin receptor, p75, p75NGFR, LNGFR, Tnfrsf16 |
MMRRC Submission |
040297-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.750)
|
Stock # |
R2298 (G1)
|
Quality Score |
130 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
95459644-95478524 bp(-) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
AAGCAGCAGCAGCAGCAGCAGCAG to AAGCAGCAGCAGCAGCAGCAG
at 95478316 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000122]
|
AlphaFold |
Q9Z0W1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000122
|
SMART Domains |
Protein: ENSMUSP00000000122 Gene: ENSMUSG00000000120
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
TNFR
|
35 |
67 |
1.51e-4 |
SMART |
TNFR
|
70 |
110 |
1.54e-5 |
SMART |
TNFR
|
112 |
149 |
1.79e-6 |
SMART |
TNFR
|
152 |
191 |
2.84e-9 |
SMART |
transmembrane domain
|
253 |
275 |
N/A |
INTRINSIC |
DEATH
|
336 |
421 |
2.98e-21 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for targeted mutations exhibit increased perinatal lethality, skin abnormalities, growth retardation, reduced sensory nerve innervation, elevated pain threshold, ataxia, reduced sciatic nerve diameter, and blood vessel abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
G |
8: 73,209,247 (GRCm39) |
D459G |
probably benign |
Het |
Abhd12 |
C |
A |
2: 150,743,414 (GRCm39) |
|
probably benign |
Het |
Atcay |
A |
T |
10: 81,046,397 (GRCm39) |
I309N |
probably damaging |
Het |
Capn8 |
T |
C |
1: 182,440,985 (GRCm39) |
V473A |
probably benign |
Het |
Cramp1 |
T |
C |
17: 25,216,454 (GRCm39) |
I220V |
probably damaging |
Het |
Creb3l1 |
G |
A |
2: 91,822,321 (GRCm39) |
P222S |
probably damaging |
Het |
Crocc |
G |
A |
4: 140,752,770 (GRCm39) |
A1374V |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,875,218 (GRCm39) |
L630S |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Erbb4 |
C |
T |
1: 68,081,690 (GRCm39) |
D1115N |
probably damaging |
Het |
Fasn |
T |
A |
11: 120,704,642 (GRCm39) |
L1314F |
possibly damaging |
Het |
Galm |
T |
A |
17: 80,489,126 (GRCm39) |
C84* |
probably null |
Het |
H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
Klf13 |
T |
C |
7: 63,541,504 (GRCm39) |
K208E |
probably damaging |
Het |
Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
Lgmn |
A |
G |
12: 102,361,937 (GRCm39) |
F388S |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Msh2 |
T |
A |
17: 88,015,930 (GRCm39) |
Y521N |
probably damaging |
Het |
Myo5b |
G |
T |
18: 74,758,676 (GRCm39) |
R219L |
probably damaging |
Het |
Myzap |
A |
T |
9: 71,456,039 (GRCm39) |
M327K |
probably damaging |
Het |
Phf8-ps |
T |
C |
17: 33,285,752 (GRCm39) |
E350G |
probably damaging |
Het |
Rps6ka5 |
A |
G |
12: 100,517,713 (GRCm39) |
F796S |
probably damaging |
Het |
Srl |
T |
C |
16: 4,300,762 (GRCm39) |
I332V |
probably damaging |
Het |
Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
Tenm2 |
T |
C |
11: 35,937,604 (GRCm39) |
T1690A |
possibly damaging |
Het |
Traf4 |
T |
A |
11: 78,051,677 (GRCm39) |
D241V |
probably benign |
Het |
Trpv6 |
A |
G |
6: 41,613,010 (GRCm39) |
I52T |
possibly damaging |
Het |
Zfp768 |
T |
A |
7: 126,943,361 (GRCm39) |
M256L |
probably benign |
Het |
|
Other mutations in Ngfr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02792:Ngfr
|
APN |
11 |
95,462,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R0211:Ngfr
|
UTSW |
11 |
95,462,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0715:Ngfr
|
UTSW |
11 |
95,465,065 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1668:Ngfr
|
UTSW |
11 |
95,478,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R5194:Ngfr
|
UTSW |
11 |
95,471,808 (GRCm39) |
missense |
probably benign |
0.06 |
R6053:Ngfr
|
UTSW |
11 |
95,461,832 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6109:Ngfr
|
UTSW |
11 |
95,468,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R6190:Ngfr
|
UTSW |
11 |
95,465,267 (GRCm39) |
missense |
probably benign |
0.00 |
R7276:Ngfr
|
UTSW |
11 |
95,465,170 (GRCm39) |
missense |
probably benign |
0.12 |
R7366:Ngfr
|
UTSW |
11 |
95,465,255 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7567:Ngfr
|
UTSW |
11 |
95,465,147 (GRCm39) |
missense |
probably benign |
|
R9157:Ngfr
|
UTSW |
11 |
95,478,316 (GRCm39) |
small deletion |
probably benign |
|
R9166:Ngfr
|
UTSW |
11 |
95,465,047 (GRCm39) |
missense |
possibly damaging |
0.94 |
RF014:Ngfr
|
UTSW |
11 |
95,469,027 (GRCm39) |
missense |
probably damaging |
1.00 |
RF041:Ngfr
|
UTSW |
11 |
95,478,337 (GRCm39) |
small deletion |
probably benign |
|
RF056:Ngfr
|
UTSW |
11 |
95,478,337 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTCTGAAAGTCCTAGAAGCTAG -3'
(R):5'- CACTTGACTGCTCTGGACTC -3'
Sequencing Primer
(F):5'- TAGGAGCGCCCCTGTGG -3'
(R):5'- CTAGCAGCCAGAGCGAGTG -3'
|
Posted On |
2014-10-30 |