Mutagenetix > Incidental Mutation

Incidental Mutation 'R4817:Ngf'

369886

Institutional Source

Beutler Lab

Gene Symbol

Ngf

Ensembl Gene

ENSMUSG00000027859

Gene Name

nerve growth factor

Synonyms

Ngfb

MMRRC Submission

042435-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.693) question?

Stock #

R4817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102377235-102428329 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 102417156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035952] [ENSMUST00000106925] [ENSMUST00000106925] [ENSMUST00000106925] [ENSMUST00000198168] [ENSMUST00000198644]

AlphaFold

P01139

Predicted Effect

probably benign
Transcript: ENSMUST00000035952

SMART Domains

Protein: ENSMUSP00000040345
Gene: ENSMUSG00000027859

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
NGF	128	232	1.41e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106925

SMART Domains

Protein: ENSMUSP00000102538
Gene: ENSMUSG00000027859

Domain	Start	End	E-Value	Type
NGF	194	298	1.41e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106925

SMART Domains

Protein: ENSMUSP00000102538
Gene: ENSMUSG00000027859

Domain	Start	End	E-Value	Type
NGF	194	298	1.41e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106925

SMART Domains

Protein: ENSMUSP00000102538
Gene: ENSMUSG00000027859

Domain	Start	End	E-Value	Type
NGF	194	298	1.41e-78	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000198168
AA Change: Y22C

Predicted Effect

probably benign
Transcript: ENSMUST00000198644

SMART Domains

Protein: ENSMUSP00000142801
Gene: ENSMUSG00000027859

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
NGF	190	294	7.1e-81	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (108/112)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	T	A	2: 91,033,963 (GRCm39)	D44E	probably damaging	Het
Acp5	T	C	9: 22,038,379 (GRCm39)	I307M	probably benign	Het
Ahsa1	A	G	12: 87,319,940 (GRCm39)	D245G	possibly damaging	Het
Ankrd40	A	G	11: 94,230,459 (GRCm39)	K316E	probably benign	Het
Apol9b	G	A	15: 77,620,088 (GRCm39)	E295K	possibly damaging	Het
Aqp4	C	A	18: 15,532,815 (GRCm39)	G93C	probably damaging	Het
Arhgap21	A	G	2: 20,854,967 (GRCm39)	V1465A	probably benign	Het
Arhgap5	C	T	12: 52,565,992 (GRCm39)	P988S	possibly damaging	Het
Asxl3	A	C	18: 22,658,511 (GRCm39)	K2174Q	probably damaging	Het
Brf1	A	T	12: 112,935,921 (GRCm39)	I250N	probably damaging	Het
Calm1	A	G	12: 100,169,832 (GRCm39)		probably null	Het
Ccdc33	C	T	9: 57,974,818 (GRCm39)	V352M	probably damaging	Het
Ccdc88a	G	T	11: 29,410,907 (GRCm39)	K464N	probably benign	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdc25b	T	A	2: 131,035,223 (GRCm39)	I327N	probably damaging	Het
Cenpf	G	A	1: 189,414,566 (GRCm39)	H184Y	possibly damaging	Het
Cimap1d	G	A	10: 79,475,851 (GRCm39)	P238S	probably damaging	Het
Col6a5	G	A	9: 105,811,497 (GRCm39)	T674I	unknown	Het
Creg2	A	T	1: 39,662,358 (GRCm39)	M258K	probably damaging	Het
Csf3r	T	A	4: 125,931,449 (GRCm39)	Y477*	probably null	Het
Cyp3a44	T	A	5: 145,740,565 (GRCm39)	Y25F	possibly damaging	Het
Degs2	T	A	12: 108,655,325 (GRCm39)	R283*	probably null	Het
Dido1	T	C	2: 180,303,209 (GRCm39)	N1565S	probably benign	Het
Dnah6	A	T	6: 72,999,407 (GRCm39)	M4008K	probably benign	Het
Dnmbp	C	A	19: 43,838,411 (GRCm39)	G1138V	probably benign	Het
Drosha	A	C	15: 12,914,133 (GRCm39)	H1136P	probably damaging	Het
Duox2	T	G	2: 122,126,996 (GRCm39)	N173T	probably damaging	Het
Dync1li1	T	G	9: 114,534,162 (GRCm39)	I87M	probably benign	Het
E2f8	A	C	7: 48,517,494 (GRCm39)	S770A	probably benign	Het
Efemp1	A	G	11: 28,876,241 (GRCm39)	T469A	probably damaging	Het
Eif3f	A	T	7: 108,536,982 (GRCm39)	T136S	probably damaging	Het
Enpp5	T	C	17: 44,391,871 (GRCm39)	*46R	probably null	Het
Epb41l4b	A	G	4: 57,103,428 (GRCm39)	V136A	probably damaging	Het
Fam186a	A	C	15: 99,831,419 (GRCm39)		probably benign	Het
Flt4	A	G	11: 49,516,242 (GRCm39)	Y115C	probably damaging	Het
Gal	T	A	19: 3,461,126 (GRCm39)		probably null	Het
Galnt3	C	T	2: 65,923,883 (GRCm39)	V462I	possibly damaging	Het
Gas2l1	A	G	11: 5,011,429 (GRCm39)	S467P	possibly damaging	Het
Gbx1	A	G	5: 24,731,204 (GRCm39)	L204P	probably damaging	Het
Gle1	T	A	2: 29,826,223 (GRCm39)	S101T	probably benign	Het
Gltpd2	A	C	11: 70,410,303 (GRCm39)	Q87P	probably damaging	Het
Gm12789	T	A	4: 101,846,079 (GRCm39)	D113E	probably damaging	Het
Grin3b	G	A	10: 79,812,732 (GRCm39)	G936R	probably benign	Het
Gtf3c2	C	T	5: 31,331,434 (GRCm39)		probably null	Het
Gvin3	T	A	7: 106,200,437 (GRCm39)		noncoding transcript	Het
Klhl28	T	C	12: 65,004,043 (GRCm39)	T157A	probably benign	Het
Kmt2a	A	G	9: 44,732,763 (GRCm39)		probably benign	Het
Lamp1	A	G	8: 13,222,541 (GRCm39)	T242A	probably benign	Het
Lhfpl5	T	G	17: 28,795,300 (GRCm39)	I109S	possibly damaging	Het
Lhfpl5	T	A	17: 28,801,962 (GRCm39)	*220R	probably null	Het
Map4k2	C	T	19: 6,394,459 (GRCm39)	T313I	probably damaging	Het
Matn2	A	G	15: 34,423,945 (GRCm39)	D601G	probably damaging	Het
Mcur1	C	T	13: 43,705,147 (GRCm39)	V170M	possibly damaging	Het
Mphosph10	T	C	7: 64,041,969 (GRCm39)		probably benign	Het
Nat8l	G	A	5: 34,158,387 (GRCm39)	A266T	probably benign	Het
Nckap5	G	T	1: 125,954,952 (GRCm39)	D469E	possibly damaging	Het
Nckap5l	G	T	15: 99,321,067 (GRCm39)	P1238T	probably damaging	Het
Ntng1	T	A	3: 109,842,184 (GRCm39)	L196F	probably damaging	Het
Or2q1	A	G	6: 42,794,896 (GRCm39)	I164V	possibly damaging	Het
Or2v2	A	T	11: 49,004,448 (GRCm39)	V35D	probably damaging	Het
Pclo	A	T	5: 14,725,045 (GRCm39)	Y1301F	unknown	Het
Pclo	A	G	5: 14,763,139 (GRCm39)	T3871A	unknown	Het
Peli3	T	C	19: 4,982,594 (GRCm39)	E357G	probably damaging	Het
Pkd1	T	A	17: 24,784,348 (GRCm39)		probably null	Het
Pla2g2c	T	G	4: 138,461,645 (GRCm39)	F38C	probably damaging	Het
Plekha2	T	A	8: 25,549,960 (GRCm39)	T126S	possibly damaging	Het
Polr3f	T	A	2: 144,376,001 (GRCm39)	*142K	probably null	Het
Ppcs	C	T	4: 119,276,343 (GRCm39)	V81M	probably benign	Het
Prl7a1	A	G	13: 27,819,747 (GRCm39)	I169T	probably damaging	Het
Rbm19	C	A	5: 120,271,799 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,721,631 (GRCm39)	Y215F	probably benign	Het
Rragd	T	G	4: 32,995,072 (GRCm39)	S62R	probably benign	Het
Rtel1	T	C	2: 180,997,728 (GRCm39)	S1114P	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setbp1	A	G	18: 78,902,015 (GRCm39)	S551P	probably damaging	Het
Setd6	T	C	8: 96,443,683 (GRCm39)		probably benign	Het
Slmap	A	C	14: 26,183,507 (GRCm39)	M292R	probably damaging	Het
Srrm4	T	C	5: 116,615,193 (GRCm39)	D97G	unknown	Het
Stk-ps2	G	A	1: 46,068,125 (GRCm39)		noncoding transcript	Het
Syce1	A	T	7: 140,358,336 (GRCm39)	M204K	probably benign	Het
Syk	A	G	13: 52,765,242 (GRCm39)	K123R	probably benign	Het
Tbc1d14	A	T	5: 36,729,175 (GRCm39)	S64T	probably damaging	Het
Tmt1a3	A	T	15: 100,233,214 (GRCm39)	D135V	probably damaging	Het
Traf3ip3	T	C	1: 192,867,137 (GRCm39)	K295E	probably damaging	Het
Trp53bp2	T	C	1: 182,269,370 (GRCm39)		probably null	Het
Tsc2	T	A	17: 24,815,716 (GRCm39)		probably null	Het
Tspyl4	T	A	10: 34,173,734 (GRCm39)	C75*	probably null	Het
Uqcc2	T	C	17: 27,344,133 (GRCm39)	I52V	probably benign	Het
Vcp	T	A	4: 42,983,486 (GRCm39)	T525S	probably damaging	Het
Vmn2r18	A	T	5: 151,508,897 (GRCm39)		probably null	Het
Vmp1	A	G	11: 86,492,879 (GRCm39)	V310A	probably benign	Het
Vps13d	T	A	4: 144,795,735 (GRCm39)	R3671S	probably damaging	Het
Wdr3	T	C	3: 100,053,861 (GRCm39)	T544A	possibly damaging	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zfp541	T	A	7: 15,824,307 (GRCm39)	F1010I	probably damaging	Het
Zfp64	T	C	2: 168,768,032 (GRCm39)	T527A	probably benign	Het
Zyx	G	T	6: 42,333,421 (GRCm39)	R449M	probably damaging	Het

Other mutations in Ngf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGGCTCATCAAATGCACTGTC -3'
(R):5'- GGTATTTCGGCCAAACTGTTAAAG -3'

Sequencing Primer
(F):5'- GCTCATCAAATGCACTGTCAAACTTC -3'
(R):5'- CAACTTGCTTCTGTGGGTAATTC -3'

Posted On

2016-02-04