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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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