Incidental Mutation 'R0211:Ngfr'
ID 35553
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 038462-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.690) question?
Stock # R0211 (G1)
Quality Score 113
Status Not validated
Chromosome 11
Chromosomal Location 95459644-95478524 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 95462738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 300 (E300A)
Ref Sequence ENSEMBL: ENSMUSP00000000122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000122]
AlphaFold Q9Z0W1
Predicted Effect probably damaging
Transcript: ENSMUST00000000122
AA Change: E300A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000122
Gene: ENSMUSG00000000120
AA Change: E300A

DomainStartEndE-ValueType
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: 98.2%
  • 3x: 97.0%
  • 10x: 94.6%
  • 20x: 89.0%
Validation Efficiency 100% (1/1)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,262,870 (GRCm39) L1401P possibly damaging Het
4930503B20Rik C T 3: 146,356,251 (GRCm39) R219H probably benign Het
Abcc9 T A 6: 142,634,710 (GRCm39) I185F probably benign Het
Adgrf1 T C 17: 43,607,581 (GRCm39) L100P probably damaging Het
Akt1 T C 12: 112,621,576 (GRCm39) T407A probably damaging Het
Alk C T 17: 72,910,511 (GRCm39) R65H probably damaging Het
Aplp2 T C 9: 31,069,086 (GRCm39) E525G probably damaging Het
Arhgef12 G A 9: 42,883,300 (GRCm39) R1411C probably damaging Het
Arnt T A 3: 95,383,460 (GRCm39) M242K probably damaging Het
Atad5 T G 11: 79,986,473 (GRCm39) V520G probably benign Het
Avpr1a T A 10: 122,285,374 (GRCm39) M222K possibly damaging Het
Cbr2 T A 11: 120,621,614 (GRCm39) I88L probably benign Het
Cc2d2a T A 5: 43,845,608 (GRCm39) probably null Het
Ccdc51 T C 9: 108,918,441 (GRCm39) M10T probably benign Het
Cntnap5b T A 1: 100,406,099 (GRCm39) D1136E possibly damaging Het
Coil T A 11: 88,872,979 (GRCm39) S447T probably damaging Het
Cryba1 T A 11: 77,609,693 (GRCm39) Y179F probably damaging Het
Dcaf4 T A 12: 83,582,735 (GRCm39) F277I probably damaging Het
Ddost G A 4: 138,036,913 (GRCm39) V159M probably damaging Het
Dnaaf4 A T 9: 72,868,649 (GRCm39) R127S possibly damaging Het
Dnajb6 T C 5: 29,990,077 (GRCm39) probably benign Het
Dnase2a A G 8: 85,635,417 (GRCm39) probably benign Het
Dscam T C 16: 96,517,279 (GRCm39) I877V possibly damaging Het
Efcc1 A T 6: 87,726,136 (GRCm39) T312S probably benign Het
Elp1 T A 4: 56,795,545 (GRCm39) I143F probably damaging Het
Ermard A T 17: 15,242,205 (GRCm39) Q127L probably damaging Het
F2 T C 2: 91,460,503 (GRCm39) E329G probably damaging Het
Foxc2 T A 8: 121,843,355 (GRCm39) M1K probably null Het
Fuz T A 7: 44,548,446 (GRCm39) probably null Het
Ggnbp2 G A 11: 84,731,139 (GRCm39) T325M probably damaging Het
Gm6408 T A 5: 146,419,870 (GRCm39) F115I probably benign Het
Gp6 C T 7: 4,376,208 (GRCm39) probably null Het
Grin2a A G 16: 9,397,037 (GRCm39) S1017P possibly damaging Het
H2-T5 T C 17: 36,478,899 (GRCm39) T117A probably damaging Het
Hmmr A T 11: 40,605,635 (GRCm39) M318K probably damaging Het
Ifi205 T C 1: 173,855,994 (GRCm39) E12G probably benign Het
Ift74 C T 4: 94,567,492 (GRCm39) T395I probably benign Het
Irf8 A T 8: 121,466,714 (GRCm39) D53V probably damaging Het
Itgad A G 7: 127,803,813 (GRCm39) Y69C probably damaging Het
Itpr2 C A 6: 146,096,111 (GRCm39) R2084L probably benign Het
Krt4 C A 15: 101,831,217 (GRCm39) S228I possibly damaging Het
Lpin3 A T 2: 160,740,601 (GRCm39) D382V probably damaging Het
Ltbp3 T C 19: 5,802,171 (GRCm39) probably null Het
Map4k3 C T 17: 80,952,270 (GRCm39) A179T probably damaging Het
Nck1 A T 9: 100,379,820 (GRCm39) W144R probably damaging Het
Ndufb9 A T 15: 58,811,131 (GRCm39) Q139L possibly damaging Het
Nin T G 12: 70,061,649 (GRCm39) T2072P probably damaging Het
Nop2 T G 6: 125,118,307 (GRCm39) L529R probably damaging Het
Nrm T A 17: 36,175,503 (GRCm39) L203Q probably damaging Het
Nynrin T C 14: 56,109,255 (GRCm39) F1454S probably benign Het
Or10ak7 T A 4: 118,791,467 (GRCm39) M191L probably benign Het
Or5b101 T C 19: 13,005,646 (GRCm39) T16A possibly damaging Het
Or8j3c A C 2: 86,253,451 (GRCm39) S190A probably damaging Het
Os9 A G 10: 126,956,905 (GRCm39) V27A probably damaging Het
Osbpl9 T G 4: 108,930,321 (GRCm39) T332P probably damaging Het
Pcdhb10 A T 18: 37,547,059 (GRCm39) M712L probably benign Het
Pcx C T 19: 4,670,227 (GRCm39) A935V probably damaging Het
Pdzd7 A G 19: 45,022,106 (GRCm39) V514A possibly damaging Het
Plin4 C T 17: 56,409,242 (GRCm39) G1326D probably damaging Het
Plxnb1 T A 9: 108,932,731 (GRCm39) Y568* probably null Het
Pmfbp1 T A 8: 110,268,372 (GRCm39) V973D probably benign Het
Ppp2r1b T C 9: 50,772,925 (GRCm39) V70A probably benign Het
Prkar2b C A 12: 32,022,183 (GRCm39) V201L probably benign Het
Rgr T G 14: 36,768,925 (GRCm39) T37P probably damaging Het
Ripk3 A T 14: 56,025,375 (GRCm39) L63Q probably damaging Het
Rpusd2 A G 2: 118,868,893 (GRCm39) S439G probably benign Het
Serac1 T A 17: 6,100,335 (GRCm39) R438S possibly damaging Het
Slc19a1 T A 10: 76,874,300 (GRCm39) S24T possibly damaging Het
Slc6a21 A C 7: 44,937,667 (GRCm39) T653P possibly damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spdef C T 17: 27,933,894 (GRCm39) R309H probably damaging Het
Srp68 A T 11: 116,156,377 (GRCm39) Y84N probably damaging Het
Syne2 A T 12: 76,144,731 (GRCm39) Q6299L probably damaging Het
Tmem63b T A 17: 45,972,839 (GRCm39) M652L probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnk1 A G 11: 69,746,007 (GRCm39) V306A probably damaging Het
Tnnc2 T A 2: 164,619,404 (GRCm39) I147F probably damaging Het
Tnni3k C T 3: 154,760,981 (GRCm39) probably benign Het
Togaram2 T A 17: 72,036,243 (GRCm39) V911D probably damaging Het
Tyw3 T C 3: 154,293,132 (GRCm39) N181S probably damaging Het
Unc79 T A 12: 103,039,051 (GRCm39) S682T probably benign Het
Vps13d A G 4: 144,841,348 (GRCm39) L2634S probably benign Het
Wasl G T 6: 24,633,892 (GRCm39) A124E probably damaging Het
Zfp287 T C 11: 62,605,743 (GRCm39) H388R probably damaging Het
Zfp335 T C 2: 164,749,612 (GRCm39) T262A probably damaging Het
Zfp457 C G 13: 67,441,211 (GRCm39) G359R probably benign Het
Zfp536 T A 7: 37,267,874 (GRCm39) E514V probably damaging Het
Zfp872 T A 9: 22,111,469 (GRCm39) I316N probably damaging Het
Other mutations in Ngfr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02792:Ngfr APN 11 95,462,687 (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
RF056:Ngfr UTSW 11 95,478,337 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- GCAGCCACTTTGGGCAGTAATTAAC -3'
(R):5'- TAGACCCTTTGGGGACATTGCCAC -3'

Sequencing Primer
(F):5'- AGGAGAaaaaacaaaaaatgcaaaac -3'
(R):5'- GGGACATTGCCACACTCC -3'
Posted On 2013-05-09