Mutagenetix > Incidental Mutation

Incidental Mutation 'R7790:Ngf'

599786

Institutional Source

Beutler Lab

Gene Symbol

Ngf

Ensembl Gene

ENSMUSG00000027859

Gene Name

nerve growth factor

Synonyms

Ngfb

MMRRC Submission

045846-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.693) question?

Stock #

R7790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102377235-102428329 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102417140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 17 (G17R)

Ref Sequence

ENSEMBL: ENSMUSP00000102538 (fasta)

Gene Model

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

unknown
Transcript: ENSMUST00000106925
AA Change: G17R

SMART Domains

Protein: ENSMUSP00000102538
Gene: ENSMUSG00000027859
AA Change: G17R

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

Predicted Effect

unknown
Transcript: ENSMUST00000198168
AA Change: G17R

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

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,201 (GRCm39)	I136F	possibly damaging	Het
Abca13	A	T	11: 9,247,915 (GRCm39)	K2554M	probably damaging	Het
Ankrd12	C	T	17: 66,291,225 (GRCm39)	D1403N	possibly damaging	Het
Ankrd17	A	G	5: 90,408,011 (GRCm39)	V1402A	possibly damaging	Het
Ankrd36	A	T	11: 5,585,176 (GRCm39)	N329I	possibly damaging	Het
Atr	A	T	9: 95,756,233 (GRCm39)	D815V	probably damaging	Het
C9orf72	T	C	4: 35,192,997 (GRCm39)	D444G	unknown	Het
Ceacam1	T	C	7: 25,173,375 (GRCm39)	Y271C	probably damaging	Het
Cenpo	T	C	12: 4,264,597 (GRCm39)	H265R	probably benign	Het
Chd8	G	A	14: 52,463,539 (GRCm39)	R702W	probably damaging	Het
Ckap5	A	G	2: 91,389,455 (GRCm39)	N309S	probably benign	Het
Cxxc1	C	T	18: 74,350,855 (GRCm39)	R83C	probably damaging	Het
Dcaf6	T	C	1: 165,227,284 (GRCm39)	D281G	probably damaging	Het
Dennd4c	A	G	4: 86,717,754 (GRCm39)	T584A	probably damaging	Het
Drgx	T	A	14: 32,350,845 (GRCm39)	L227Q	probably damaging	Het
Dync2h1	G	T	9: 7,114,914 (GRCm39)	H2415N	probably damaging	Het
Dzip1l	A	G	9: 99,543,015 (GRCm39)	E490G	possibly damaging	Het
Fam124a	T	C	14: 62,843,526 (GRCm39)	S345P	probably benign	Het
Fam83b	G	A	9: 76,399,330 (GRCm39)	T591I	probably benign	Het
Frem1	T	C	4: 82,907,401 (GRCm39)	S838G	probably benign	Het
Fsip2	G	T	2: 82,818,723 (GRCm39)	D4819Y	probably benign	Het
Gm43302	T	G	5: 105,425,691 (GRCm39)	K246T	probably benign	Het
Gml	T	C	15: 74,685,462 (GRCm39)		probably benign	Het
Gpc1	A	T	1: 92,781,171 (GRCm39)	H90L	probably benign	Het
Grik3	T	C	4: 125,579,812 (GRCm39)	L519P	probably damaging	Het
Grwd1	A	G	7: 45,475,438 (GRCm39)	V368A	probably damaging	Het
Gstm3	G	A	3: 107,876,555 (GRCm39)		probably benign	Het
Gtpbp6	A	G	5: 110,252,252 (GRCm39)	S427P	probably damaging	Het
Heatr5b	C	T	17: 79,126,252 (GRCm39)	G560E	probably damaging	Het
Heatr9	A	G	11: 83,409,019 (GRCm39)	V176A	probably damaging	Het
Hsf2bp	A	G	17: 32,253,453 (GRCm39)	V5A	probably benign	Het
Ints3	G	T	3: 90,307,720 (GRCm39)	Q660K	probably benign	Het
Itpr2	A	T	6: 146,126,274 (GRCm39)	L2048Q	probably damaging	Het
Kcnq1	G	A	7: 142,660,342 (GRCm39)		probably null	Het
Lsm12	A	T	11: 102,055,995 (GRCm39)		probably null	Het
Mcoln3	A	G	3: 145,845,247 (GRCm39)	Y481C	probably damaging	Het
Meis3	A	G	7: 15,916,322 (GRCm39)	N266D	probably benign	Het
Mgat5	G	A	1: 127,339,941 (GRCm39)	E441K	probably benign	Het
Mroh6	C	T	15: 75,756,089 (GRCm39)	R689H	probably benign	Het
Mtg1	T	C	7: 139,729,662 (GRCm39)	Y251H	probably damaging	Het
Mtus2	A	T	5: 148,014,998 (GRCm39)	Q597L	probably benign	Het
Myt1	A	G	2: 181,439,390 (GRCm39)	E346G	probably benign	Het
Nat8f4	A	G	6: 85,877,873 (GRCm39)	S217P	probably benign	Het
Or7e171-ps1	A	T	9: 19,852,980 (GRCm39)	M252K	unknown	Het
Pam	T	C	1: 97,749,572 (GRCm39)	Y968C	probably damaging	Het
Pcdhga7	T	A	18: 37,847,996 (GRCm39)	M1K	probably null	Het
Pde8b	G	T	13: 95,170,679 (GRCm39)	D554E	probably benign	Het
Pdzd7	G	A	19: 45,033,962 (GRCm39)	R41*	probably null	Het
Pkhd1l1	C	T	15: 44,441,977 (GRCm39)	P3639S	probably damaging	Het
Plce1	A	T	19: 38,769,140 (GRCm39)	E2280V	probably damaging	Het
Ryr1	T	C	7: 28,804,257 (GRCm39)	I538V	probably benign	Het
Scaf11	A	G	15: 96,316,942 (GRCm39)	L874P	possibly damaging	Het
Scpep1	G	T	11: 88,824,347 (GRCm39)	D307E	possibly damaging	Het
Septin4	A	G	11: 87,480,065 (GRCm39)	E327G	probably damaging	Het
Skint2	T	G	4: 112,473,751 (GRCm39)	V11G	possibly damaging	Het
Slc26a4	T	C	12: 31,594,482 (GRCm39)	N289D	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,777 (GRCm39)		probably benign	Het
Slx4	T	C	16: 3,804,846 (GRCm39)	E656G	probably benign	Het
Socs5	T	C	17: 87,441,791 (GRCm39)	S244P	probably benign	Het
Spata31h1	C	T	10: 82,123,329 (GRCm39)	C3227Y	probably benign	Het
Speer1e	C	A	5: 11,234,185 (GRCm39)	H30Q	probably benign	Het
Stt3b	A	C	9: 115,105,887 (GRCm39)	L196R	probably damaging	Het
Syne2	T	A	12: 75,975,877 (GRCm39)		probably null	Het
Tab2	T	A	10: 7,796,188 (GRCm39)	N24I	probably damaging	Het
Taf4b	T	C	18: 14,946,331 (GRCm39)	S385P	probably damaging	Het
Tg	T	C	15: 66,721,453 (GRCm39)	Y2720H	probably damaging	Het
Tjap1	C	T	17: 46,569,616 (GRCm39)	G448E	probably benign	Het
Tll1	A	T	8: 64,478,271 (GRCm39)	C827*	probably null	Het
Tlr11	T	A	14: 50,599,382 (GRCm39)	I456K	probably benign	Het
Tmem209	T	C	6: 30,497,854 (GRCm39)	D305G	probably damaging	Het
Tmem82	A	T	4: 141,345,035 (GRCm39)		probably null	Het
Tnfrsf14	A	G	4: 155,007,750 (GRCm39)	V207A	probably benign	Het
Tnks	A	T	8: 35,328,694 (GRCm39)	N625K	probably benign	Het
Tomm20	G	A	8: 127,666,700 (GRCm39)	P58S	possibly damaging	Het
Ttc9b	A	G	7: 27,353,761 (GRCm39)	D137G	probably benign	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Usp9y	T	A	Y: 1,444,573 (GRCm39)	D122V	probably damaging	Het
Vps41	C	A	13: 19,026,438 (GRCm39)	T512K	possibly damaging	Het
Wdr49	T	A	3: 75,182,335 (GRCm39)	N698I	probably benign	Het
Zfp568	G	A	7: 29,722,150 (GRCm39)	C365Y	probably damaging	Het
Zfp663	A	T	2: 165,194,453 (GRCm39)	C589S	probably damaging	Het
Zfp971	A	G	2: 177,675,292 (GRCm39)	K297R	probably damaging	Het
Zkscan16	G	T	4: 58,951,843 (GRCm39)	E173*	probably null	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
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
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'- TTTCATACGATGATTGCACCTG -3'
(R):5'- AGTGGTAGACATCCCTGTAAGTC -3'

Sequencing Primer
(F):5'- ACTTTGGAGCtggcctta -3'
(R):5'- AGTCCTTCATGCGTGAATATGC -3'

Posted On

2019-11-26