Incidental Mutation 'R8544:Ngf'
ID 659510
Institutional Source Beutler Lab
Gene Symbol Ngf
Ensembl Gene ENSMUSG00000027859
Gene Name nerve growth factor
Synonyms Ngfb
MMRRC Submission 068509-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.668) question?
Stock # R8544 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 102377235-102428329 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 102427991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 247 (V247F)
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: V185F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040345
Gene: ENSMUSG00000027859
AA Change: V185F

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
NGF 128 232 1.41e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106925
AA Change: V251F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102538
Gene: ENSMUSG00000027859
AA Change: V251F

DomainStartEndE-ValueType
NGF 194 298 1.41e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000198644
AA Change: V247F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142801
Gene: ENSMUSG00000027859
AA Change: V247F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
NGF 190 294 7.1e-81 SMART
Meta Mutation Damage Score 0.0918 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (74/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C A 15: 37,425,979 (GRCm39) probably benign Het
Abcb5 A T 12: 118,832,461 (GRCm39) L1171H probably damaging Het
Ace A T 11: 105,862,116 (GRCm39) probably null Het
Adsl G T 15: 80,832,734 (GRCm39) probably benign Het
Cabin1 A G 10: 75,585,890 (GRCm39) M215T probably benign Het
Cabp2 A T 19: 4,134,892 (GRCm39) R77S probably damaging Het
Cast A T 13: 74,882,177 (GRCm39) H40Q possibly damaging Het
Ccar1 A T 10: 62,586,358 (GRCm39) Y946N unknown Het
Ccdc9b C T 2: 118,587,702 (GRCm39) R544K unknown Het
Chst14 A G 2: 118,758,010 (GRCm39) Y268C probably damaging Het
Dennd1a T C 2: 37,872,920 (GRCm39) probably null Het
Dnah1 A G 14: 30,990,861 (GRCm39) Y3153H probably damaging Het
Entpd8 T C 2: 24,973,856 (GRCm39) V271A probably benign Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fam234b A G 6: 135,210,287 (GRCm39) Y561C probably damaging Het
Flg A G 3: 93,195,448 (GRCm39) probably benign Het
Galnt5 T A 2: 57,907,160 (GRCm39) M541K probably damaging Het
Gjd3 C A 11: 98,873,488 (GRCm39) E119* probably null Het
Gm266 T C 12: 111,451,799 (GRCm39) T136A possibly damaging Het
Gng11 G A 6: 4,008,045 (GRCm39) C36Y possibly damaging Het
Gse1 G A 8: 121,280,391 (GRCm39) V36I probably damaging Het
Hycc2 T C 1: 58,568,981 (GRCm39) T477A probably benign Het
Invs A T 4: 48,397,598 (GRCm39) H335L probably damaging Het
Kcnc2 A T 10: 112,292,101 (GRCm39) I28F probably damaging Het
Klhl40 C T 9: 121,607,892 (GRCm39) H351Y probably damaging Het
Kremen2 A G 17: 23,961,201 (GRCm39) L382P probably benign Het
Lenep A T 3: 89,309,784 (GRCm39) C55S possibly damaging Het
Lrp12 A T 15: 39,741,970 (GRCm39) Y248* probably null Het
Man2c1 A G 9: 57,038,325 (GRCm39) probably null Het
Map2k2 T C 10: 80,955,376 (GRCm39) M32T possibly damaging Het
Mnt A G 11: 74,722,218 (GRCm39) R22G probably damaging Het
Mroh1 G T 15: 76,327,558 (GRCm39) E1127* probably null Het
Mtmr4 A G 11: 87,502,735 (GRCm39) R930G possibly damaging Het
Nalcn A G 14: 123,608,935 (GRCm39) V644A probably benign Het
Ninj2 A G 6: 120,175,018 (GRCm39) Y63C probably damaging Het
Or4c121 T C 2: 89,024,312 (GRCm39) E22G possibly damaging Het
Or51g2 A T 7: 102,622,938 (GRCm39) I87N probably damaging Het
Phf12 A C 11: 77,918,235 (GRCm39) I816L probably damaging Het
Pkhd1 C A 1: 20,593,199 (GRCm39) G1638V probably damaging Het
Plce1 T A 19: 38,512,903 (GRCm39) S67R probably benign Het
Plekhf1 A G 7: 37,920,768 (GRCm39) F267L probably damaging Het
Poc1b A T 10: 98,960,770 (GRCm39) K60* probably null Het
Ppic G A 18: 53,544,612 (GRCm39) T66M probably damaging Het
Prep G T 10: 45,029,223 (GRCm39) G541V probably damaging Het
Rasal3 C T 17: 32,611,093 (GRCm39) V947I probably benign Het
Rbl1 T C 2: 157,035,124 (GRCm39) R319G probably damaging Het
Rbm34 A G 8: 127,696,821 (GRCm39) S94P probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Sacm1l T C 9: 123,406,123 (GRCm39) probably null Het
Scaf8 T C 17: 3,213,295 (GRCm39) probably benign Het
Scrn1 T A 6: 54,499,841 (GRCm39) T215S probably benign Het
Sfrp4 A G 13: 19,816,336 (GRCm39) probably null Het
Slc37a3 T C 6: 39,321,297 (GRCm39) I406V possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sptbn1 C A 11: 30,169,750 (GRCm39) probably benign Het
St8sia5 T C 18: 77,342,114 (GRCm39) Y275H probably damaging Het
Stab1 A T 14: 30,885,008 (GRCm39) C137* probably null Het
Svep1 A G 4: 58,206,025 (GRCm39) S118P probably benign Het
Tbx6 A G 7: 126,380,656 (GRCm39) probably null Het
Tril C T 6: 53,796,295 (GRCm39) S309N possibly damaging Het
Trmt13 A G 3: 116,386,094 (GRCm39) probably null Het
Trpm1 T A 7: 63,874,356 (GRCm39) probably null Het
Tyr T C 7: 87,142,000 (GRCm39) T110A probably benign Het
Upf1 A C 8: 70,789,702 (GRCm39) F711C probably damaging Het
Usp5 A T 6: 124,800,480 (GRCm39) V267D probably damaging Het
Virma C A 4: 11,516,949 (GRCm39) D714E probably benign Het
Vmn2r115 A C 17: 23,564,773 (GRCm39) Q220P possibly damaging Het
Vmn2r40 T C 7: 8,911,191 (GRCm39) I701V Het
Vwde T A 6: 13,187,652 (GRCm39) M612L probably benign Het
Wwox A G 8: 115,215,646 (GRCm39) T140A probably benign Het
Zbtb17 CCCCCACCTCCACAGACCCCA CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA 4: 141,194,139 (GRCm39) probably benign Het
Zbtb9 T A 17: 27,193,448 (GRCm39) C284* probably null Het
Zdhhc12 C A 2: 29,983,486 (GRCm39) A39S probably benign Het
Zfp532 T A 18: 65,758,227 (GRCm39) I720K possibly damaging Het
Zfp595 G A 13: 67,465,244 (GRCm39) R340C probably 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
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
R9794:Ngf UTSW 3 102,428,132 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCTTTCAACAGGACTCAC -3'
(R):5'- GCAAGTCAGCCTCTTCTTGTAGC -3'

Sequencing Primer
(F):5'- TTTCAACAGGACTCACCGGAG -3'
(R):5'- GTAGCCTTCCTGCTGAGCAC -3'
Posted On 2021-01-18