Mutagenetix > Incidental Mutation

Incidental Mutation 'RF014:Ngfr'

603424

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.690) question?

Stock #

RF014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95459644-95478524 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95469027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 117 (Y117C)

Ref Sequence

ENSEMBL: ENSMUSP00000000122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000122]

AlphaFold

Q9Z0W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000000122
AA Change: Y117C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000122
Gene: ENSMUSG00000000120
AA Change: Y117C

Domain	Start	End	E-Value	Type
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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

98% (49/50)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,820 (GRCm39)		probably benign	Het
A2ml1	T	C	6: 128,547,031 (GRCm39)	N366S	probably damaging	Het
Abca5	T	C	11: 110,170,580 (GRCm39)		probably null	Het
Acaca	T	C	11: 84,122,550 (GRCm39)	V323A	probably benign	Het
Agbl3	T	A	6: 34,776,293 (GRCm39)	D266E	possibly damaging	Het
Aggf1	A	T	13: 95,507,276 (GRCm39)	S170T	possibly damaging	Het
Amhr2	A	T	15: 102,361,589 (GRCm39)	S467C	probably benign	Het
Begain	GCCGCC	GCCGCCACCGCC	12: 108,999,348 (GRCm39)		probably benign	Het
Best3	A	T	10: 116,840,410 (GRCm39)	Q280L	probably damaging	Het
Calhm1	CTGTGGCTGTGG	CTGTGGCTGTGGGTGTGGCTGTGG	19: 47,129,704 (GRCm39)		probably benign	Het
Ccdc186	A	G	19: 56,801,904 (GRCm39)	L71S	probably benign	Het
Ces1d	C	A	8: 93,902,793 (GRCm39)		probably null	Het
Chga	AGC	AGCGGC	12: 102,527,652 (GRCm39)		probably benign	Het
Chga	AGC	AGCTGC	12: 102,527,664 (GRCm39)		probably benign	Het
Clstn3	T	A	6: 124,436,225 (GRCm39)	K212*	probably null	Het
Col16a1	TTTTT	TTTTTCTTTT	4: 129,986,860 (GRCm39)		probably benign	Het
Cpxm2	G	T	7: 131,672,592 (GRCm39)	T319K	possibly damaging	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC	9: 86,922,468 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,286,760 (GRCm39)	S3364P	probably benign	Het
Edc4	C	T	8: 106,611,232 (GRCm39)	T61M	probably benign	Het
Fndc5	A	G	4: 129,035,960 (GRCm39)	H199R	probably benign	Het
Gm43302	T	A	5: 105,422,623 (GRCm39)	I470F	possibly damaging	Het
Gne	G	T	4: 44,060,045 (GRCm39)	A147D	probably damaging	Het
Igkv12-89	G	GCAACGCCAC	6: 68,812,270 (GRCm39)		probably benign	Het
Irf9	C	T	14: 55,843,334 (GRCm39)	R179*	probably null	Het
Jakmip1	A	T	5: 37,331,870 (GRCm39)	K850M	possibly damaging	Het
Kalrn	G	A	16: 33,860,303 (GRCm39)	T1884I	probably benign	Het
Krtap28-10	CCACCACAGCCACAGCCACCACAGCCACAG	CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG	1: 83,019,972 (GRCm39)		probably benign	Het
Las1l	CTCCTCCTTCTCCTCTTCCTC	CTCCTC	X: 94,984,263 (GRCm39)		probably benign	Het
Lctl	A	G	9: 64,026,212 (GRCm39)	Y89C	probably damaging	Het
Lpgat1	GCC	GCCTCC	1: 191,450,665 (GRCm39)		probably benign	Het
Luzp2	A	T	7: 54,821,953 (GRCm39)	I157F	probably damaging	Het
Lyz3	A	G	10: 117,070,322 (GRCm39)	*152Q	probably null	Het
Mamld1	GCA	GCACCA	X: 70,162,451 (GRCm39)		probably benign	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,776 (GRCm39)		probably benign	Het
Mbd3l1	A	T	9: 18,396,296 (GRCm39)	E140D	possibly damaging	Het
Mlh3	T	A	12: 85,314,803 (GRCm39)	Q461L	probably benign	Het
Mto1	G	T	9: 78,355,598 (GRCm39)	R7L	probably benign	Het
Muc4	A	T	16: 32,570,676 (GRCm39)	S579C	probably damaging	Het
Or10aa3	A	T	1: 173,878,553 (GRCm39)	I205F	possibly damaging	Het
Or13a23-ps1	A	T	7: 140,118,690 (GRCm39)	M87L	probably benign	Het
Or8d2b	C	A	9: 38,789,196 (GRCm39)	H241Q	probably benign	Het
Plch2	A	G	4: 155,091,577 (GRCm39)	S179P	probably damaging	Het
Pogz	T	G	3: 94,785,558 (GRCm39)	S838A	possibly damaging	Het
Polr1has	CACCACCACCAC	CACCACCACCACCACCACCACGACCACCACCAC	17: 37,275,952 (GRCm39)		probably benign	Het
Pot1b	T	A	17: 55,981,106 (GRCm39)	T303S	probably benign	Het
Pou2f2	T	A	7: 24,815,162 (GRCm39)	I72L	unknown	Het
Ptpn4	A	G	1: 119,612,195 (GRCm39)		probably null	Het
Ptprs	A	T	17: 56,723,935 (GRCm39)	I1686N	probably damaging	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,694,353 (GRCm39)		probably benign	Het
Rnf14	T	A	18: 38,442,623 (GRCm39)	V308E	probably damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,518 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,384,439 (GRCm39)	T186A	possibly damaging	Het
Six3	CGG	CGGTGG	17: 85,928,784 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Spmap2l	CAGCGATCCTCCCCAGTCCCGCA	CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA	5: 77,164,247 (GRCm39)		probably benign	Het
Stox1	T	A	10: 62,500,025 (GRCm39)	H845L	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,086 (GRCm39)		probably benign	Het
Trappc9	A	AGCTGCTGCTGCTGCT	15: 72,673,132 (GRCm39)		probably benign	Het
Trim33	T	C	3: 103,236,408 (GRCm39)	V506A	possibly damaging	Het
Uckl1	T	C	2: 181,211,987 (GRCm39)	D373G	probably benign	Het
Vmn2r94	G	T	17: 18,473,549 (GRCm39)	C492*	probably null	Het
Wdr33	A	G	18: 32,014,326 (GRCm39)	D396G	probably damaging	Het
Ypel1	C	T	16: 16,915,282 (GRCm39)	V109M	probably damaging	Het
Zbtb11	A	T	16: 55,800,960 (GRCm39)	I105L	probably damaging	Het
Zbtb40	A	T	4: 136,744,617 (GRCm39)	C268S	probably benign	Het
Zfp36l1	T	A	12: 80,156,518 (GRCm39)	M288L	probably benign	Het
Zfp384	CC	CCAAGGCCCAGGAC	6: 125,013,429 (GRCm39)		probably benign	Het
Zfp87	A	G	13: 74,523,173 (GRCm39)	F15S	probably benign	Het

Other mutations in Ngfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02792:Ngfr	APN	11	95,462,687 (GRCm39)	missense	probably damaging	1.00
R0211:Ngfr	UTSW	11	95,462,738 (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
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'- TCACGAATCTAGCTCTTCACG -3'
(R):5'- AGTTCTGCCGCTGATGCTTC -3'

Sequencing Primer
(F):5'- TGCACTCGCGTAACTGG -3'
(R):5'- GCTGATGCTTCCCCGTGTG -3'

Posted On

2019-12-04