Incidental Mutation 'RF056:Ngfr'
| ID |
605283 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.690)
|
| Stock # |
RF056 (G1)
|
| Quality Score |
170.457 |
|
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) |
CAGG to C
at 95478337 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: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Begain |
CG |
CGCCGCAG |
12: 108,999,362 (GRCm39) |
|
probably benign |
Het |
| Bhlhb9 |
C |
T |
X: 134,791,239 (GRCm39) |
L484F |
possibly damaging |
Het |
| Cacna1f |
GA |
GAGTA |
X: 7,486,314 (GRCm39) |
|
probably null |
Het |
| Chga |
GCA |
GCATCA |
12: 102,527,683 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
CCT |
CCTACT |
17: 47,047,670 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
CACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
CACACTGCCCAGGGATGTGACAGAGACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,463 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
T |
TAGAGGTGGAAGTGGTGGAAGTGGTGGA |
7: 30,466,632 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
GCCGCC |
GCCGCCTCCGCC |
4: 141,602,078 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
C |
CAGCAGA |
2: 83,643,240 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
CTGAGGGAGGA |
CTGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTATGAGGGAGGA |
7: 44,149,951 (GRCm39) |
|
probably null |
Het |
| Gm10181 |
GAGAGAGAGAGAGA |
G |
9: 25,000,761 (GRCm39) |
|
probably null |
Het |
| Gm16494 |
TTT |
TTTT |
17: 47,327,841 (GRCm39) |
|
probably null |
Het |
| Hsdl2 |
CCACAGCTGCAG |
CCACAGCTGCAGCAGCAGCACAGCTGCAG |
4: 59,610,647 (GRCm39) |
|
probably null |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,414 (GRCm39) |
|
probably benign |
Het |
| Nelfe |
A |
AGCGGGATCGAGACAGAGACAAAGG |
17: 35,073,047 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GTTAGCAGTGAGGAGCAAGCTGAGA |
GTTAGCAGTGAGGAGCAAGCTGAGATACACTTTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,067 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
TACACGTTAGCAGTGAGGAGCAAGCTGAGAC |
TACACGTTAGCAGTGAGGAGCAAGCTGAGACACACGTTAGCAGTGAGGAGCAAGCTGAGAC |
2: 119,458,062 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
CAGTGAGGAGCAAGCTGAGA |
CAGTGAGGAGCAAGCTGAGATACACGTTAGGAGTGAGGAGCAAGCTGAGA |
2: 119,458,072 (GRCm39) |
|
probably benign |
Het |
| Or10n7-ps1 |
A |
ATAGG |
9: 39,598,050 (GRCm39) |
|
probably null |
Het |
| Pdik1l |
TTGCACC |
TTGCACCTGCACC |
4: 134,006,813 (GRCm39) |
|
probably benign |
Het |
| Pdik1l |
C |
CCACCAA |
4: 134,006,827 (GRCm39) |
|
probably benign |
Het |
| Pqbp1 |
ACACACACACACC |
A |
X: 7,764,998 (GRCm39) |
|
probably benign |
Het |
| Rbm28 |
AGCAACACCTCTCACCTGGGGCAGAAGCA |
AGCAACACCTCTCACCTGGGGCAGAAGCAACACCTCTCACCTGGGGCAGAAGCA |
6: 29,157,052 (GRCm39) |
|
probably null |
Het |
| Rnf126 |
GAGGAC |
G |
10: 79,594,976 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
CAGAGCCTGTGGTGCTCGCAGG |
C |
3: 95,673,631 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
CGG |
CGGAAGAGG |
8: 85,682,799 (GRCm39) |
|
probably benign |
Het |
| Rtbdn |
GCAGCG |
GCAGCGCCAGCG |
8: 85,682,801 (GRCm39) |
|
probably benign |
Het |
| Sbp |
ACAAAGATGCTGACA |
ACAAAGATGCTGACAGCAAAGATGCTGACA |
17: 24,164,340 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
GTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,475 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,500 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2b |
CCTGTG |
CCTGTGGCTGTG |
11: 32,373,055 (GRCm39) |
|
probably benign |
Het |
| Taf1a |
CACGTTGAAGCTGTAGGTAAGTGAGACAGCGTTGAAGCTGTAGGTAAGTGAGACA |
CGCGTTGAAGCTGTAGGTAAGTGAGACA |
1: 183,172,369 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
TCCCCTTGGC |
TCCCCTTGGCTGCTGAGATGGGCACTTTCCTAGAGACCCCCTTGGC |
18: 60,966,647 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
CCAG |
CCAGCAG |
6: 115,537,025 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CAGAGCCAGAGCCAGAGCAAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,359 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
CCCAGGC |
CCCAGGCCCAGGGCCAGGC |
6: 125,013,453 (GRCm39) |
|
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 |
|
R2298:Ngfr
|
UTSW |
11 |
95,478,316 (GRCm39) |
small deletion |
probably benign |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTCTGAAAGTCCTAGAAGCTAG -3'
(R):5'- ACTTGACTGCTCTGGACTCC -3'
Sequencing Primer
(F):5'- CCTGTGGGTCATGATCCCG -3'
(R):5'- CTAGCAGCCAGAGCGAGTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation