Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02792:Ngfr'

359773

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

95459644-95478524 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 95462687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 317 (L317R)

Ref Sequence

ENSEMBL: ENSMUSP00000000122 (fasta)

Gene Model

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

AlphaFold

Q9Z0W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000000122
AA Change: L317R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000122
Gene: ENSMUSG00000000120
AA Change: L317R

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

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,401,107 (GRCm39)	V131M	probably benign	Het
Abca6	A	T	11: 110,079,507 (GRCm39)	C1216S	probably damaging	Het
Acly	T	C	11: 100,369,236 (GRCm39)	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,282,163 (GRCm39)		probably null	Het
Adgrb1	C	A	15: 74,419,471 (GRCm39)	L771I	probably damaging	Het
Adh7	A	T	3: 137,929,498 (GRCm39)	K89I	probably damaging	Het
Adora2b	A	T	11: 62,156,309 (GRCm39)	I253F	possibly damaging	Het
Akna	G	A	4: 63,295,943 (GRCm39)	P975S	possibly damaging	Het
Alg9	T	C	9: 50,754,048 (GRCm39)	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,761,218 (GRCm39)	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,563,058 (GRCm39)	S908T	probably benign	Het
Atp1a4	C	T	1: 172,054,866 (GRCm39)		probably null	Het
Cabin1	T	C	10: 75,582,573 (GRCm39)	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,265,995 (GRCm39)	F1312L	probably benign	Het
Cfap65	A	C	1: 74,966,337 (GRCm39)	F330C	probably damaging	Het
Col27a1	C	T	4: 63,233,820 (GRCm39)	P689S	unknown	Het
Col4a3	A	T	1: 82,696,524 (GRCm39)	K1643N	probably damaging	Het
Dop1b	T	A	16: 93,598,460 (GRCm39)	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,761,082 (GRCm39)		probably benign	Het
Ergic3	C	A	2: 155,859,770 (GRCm39)	T357K	probably damaging	Het
Glra1	A	T	11: 55,427,226 (GRCm39)	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,001,018 (GRCm39)	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,236,602 (GRCm39)	S382P	probably damaging	Het
Kat6a	G	A	8: 23,428,316 (GRCm39)	E1224K	probably damaging	Het
Klk13	A	G	7: 43,370,838 (GRCm39)	E29G	possibly damaging	Het
Klra9	T	C	6: 130,165,643 (GRCm39)	D124G	probably benign	Het
Lrmda	T	C	14: 22,069,978 (GRCm39)		probably null	Het
Ltbp1	G	A	17: 75,589,989 (GRCm39)	V539M	probably damaging	Het
Nlrp6	C	A	7: 140,502,348 (GRCm39)	H151Q	probably damaging	Het
Nnt	A	G	13: 119,494,182 (GRCm39)	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,686,535 (GRCm39)	V158M	probably damaging	Het
Or11i1	T	C	3: 106,729,456 (GRCm39)	T140A	probably damaging	Het
Or2d36	T	C	7: 106,747,425 (GRCm39)	F301L	probably benign	Het
Or7g16	C	T	9: 18,727,254 (GRCm39)	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,133,850 (GRCm39)	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,172,393 (GRCm39)	I207F	possibly damaging	Het
Polr2a	A	G	11: 69,636,938 (GRCm39)	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,722 (GRCm39)	V73A	probably damaging	Het
Relb	A	T	7: 19,347,789 (GRCm39)	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,383,018 (GRCm39)	L382*	probably null	Het
Setd1a	C	T	7: 127,390,522 (GRCm39)	S523F	unknown	Het
Slamf8	A	G	1: 172,415,697 (GRCm39)	I47T	probably damaging	Het
Slc16a4	G	A	3: 107,206,193 (GRCm39)	A88T	probably benign	Het
Sox6	C	T	7: 115,140,884 (GRCm39)	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,512,165 (GRCm39)	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,935,918 (GRCm39)	D1710A	probably benign	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Vangl1	A	T	3: 102,070,739 (GRCm39)	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,659,014 (GRCm39)	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,414,228 (GRCm39)	M1V	probably null	Het
Wdfy4	T	C	14: 32,817,262 (GRCm39)	I1561V	probably benign	Het
Xkr9	A	G	1: 13,771,027 (GRCm39)	D181G	probably damaging	Het
Zfp318	T	C	17: 46,720,104 (GRCm39)	F1101L	probably damaging	Het
Zfpm2	C	A	15: 40,966,409 (GRCm39)	Q833K	probably benign	Het

Other mutations in Ngfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
RF014:Ngfr	UTSW	11	95,469,027 (GRCm39)	missense	probably damaging	1.00
RF041:Ngfr	UTSW	11	95,478,337 (GRCm39)	small deletion	probably benign
RF056:Ngfr	UTSW	11	95,478,337 (GRCm39)	small deletion	probably benign

Posted On

2015-12-18