Mutagenetix > Incidental Mutation

Incidental Mutation 'R7366:Ngfr'

571823

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

MMRRC Submission

045450-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.690) question?

Stock #

R7366 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95459644-95478524 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95465255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 198 (W198R)

Ref Sequence

ENSEMBL: ENSMUSP00000000122 (fasta)

Gene Model

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

AlphaFold

Q9Z0W1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000122
AA Change: W198R

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000122
Gene: ENSMUSG00000000120
AA Change: W198R

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

Meta Mutation Damage Score

0.1171

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

99% (94/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	T	8: 73,203,303 (GRCm39)	P244S	possibly damaging	Het
4930562C15Rik	A	G	16: 4,653,633 (GRCm39)	I61V	unknown	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Acbd3	A	G	1: 180,562,064 (GRCm39)	E181G	probably benign	Het
Ano3	T	C	2: 110,587,412 (GRCm39)	Y43C	probably damaging	Het
Aspa	T	A	11: 73,210,716 (GRCm39)		probably null	Het
AU018091	A	T	7: 3,206,170 (GRCm39)	N620K	probably damaging	Het
Bicc1	G	T	10: 70,779,216 (GRCm39)	T724K	probably benign	Het
Bmper	T	C	9: 23,395,300 (GRCm39)	I677T	probably damaging	Het
C3	T	A	17: 57,528,162 (GRCm39)	T686S	probably benign	Het
Cc2d2a	G	T	5: 43,887,332 (GRCm39)	R1315L	probably damaging	Het
Ccdc150	G	T	1: 54,339,541 (GRCm39)	E462*	probably null	Het
Ccdc88c	C	A	12: 100,911,209 (GRCm39)	R875L	possibly damaging	Het
Cd177	C	T	7: 24,456,147 (GRCm39)	G207D	probably damaging	Het
Cdh23	A	T	10: 60,151,471 (GRCm39)	Y2471*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cmbl	A	T	15: 31,590,002 (GRCm39)	Y244F	probably benign	Het
Dcaf10	T	C	4: 45,373,919 (GRCm39)	V448A	probably damaging	Het
Ddr2	A	G	1: 169,825,533 (GRCm39)	W356R	probably damaging	Het
Depdc1a	A	G	3: 159,228,849 (GRCm39)	I534V	probably benign	Het
Dhtkd1	T	A	2: 5,922,717 (GRCm39)	I481L	probably benign	Het
Dlst	A	T	12: 85,175,089 (GRCm39)	I260L	probably benign	Het
Dnajc13	T	G	9: 104,061,905 (GRCm39)	K1350Q	probably benign	Het
Dpp4	T	C	2: 62,184,943 (GRCm39)	Y520C	probably damaging	Het
Dr1	C	A	5: 108,423,594 (GRCm39)	A127E	unknown	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
E130308A19Rik	T	C	4: 59,752,770 (GRCm39)	C628R	probably damaging	Het
Edem3	T	A	1: 151,688,365 (GRCm39)		probably null	Het
Efcab15	T	C	11: 103,098,944 (GRCm39)		probably null	Het
Fam20a	T	A	11: 109,564,168 (GRCm39)	Q528H	possibly damaging	Het
Fanca	T	C	8: 124,007,952 (GRCm39)	E981G	probably benign	Het
Fbp2	A	G	13: 62,985,012 (GRCm39)	V303A	possibly damaging	Het
Flii	C	T	11: 60,611,945 (GRCm39)	V353M	possibly damaging	Het
Gm10277	T	A	11: 77,676,584 (GRCm39)	Y129F	unknown	Het
Gm3159	A	T	14: 4,398,525 (GRCm38)	H72L	probably benign	Het
Gm5114	T	G	7: 39,058,768 (GRCm39)	T284P	possibly damaging	Het
Gm7168	T	C	17: 14,170,147 (GRCm39)	S505P	probably damaging	Het
Gnal	T	C	18: 67,344,142 (GRCm39)	V239A	possibly damaging	Het
Gtf2i	C	T	5: 134,294,603 (GRCm39)	E370K	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Il3	T	A	11: 54,156,709 (GRCm39)	R93S	probably benign	Het
Itsn1	A	G	16: 91,705,338 (GRCm39)	E1573G	unknown	Het
Kif26a	G	A	12: 112,129,976 (GRCm39)		probably null	Het
Klb	T	C	5: 65,529,774 (GRCm39)	M434T	probably damaging	Het
Lrp2	T	A	2: 69,314,150 (GRCm39)	R2194W	probably damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Mak16	A	G	8: 31,656,127 (GRCm39)	Y119H	possibly damaging	Het
Map3k19	T	A	1: 127,745,192 (GRCm39)	M1421L	probably damaging	Het
Mbd5	A	G	2: 49,164,580 (GRCm39)	I1186V	probably benign	Het
Mboat1	T	A	13: 30,386,345 (GRCm39)	C120S	possibly damaging	Het
Mctp2	T	A	7: 71,908,962 (GRCm39)	D117V	probably benign	Het
Mocos	C	A	18: 24,809,673 (GRCm39)	N425K	probably damaging	Het
Nav2	A	G	7: 49,203,951 (GRCm39)		probably null	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Obsl1	T	C	1: 75,479,608 (GRCm39)	S596G	probably damaging	Het
Or2ag1	G	T	7: 106,472,603 (GRCm39)	P283Q	probably damaging	Het
Or51g1	A	T	7: 102,633,723 (GRCm39)	I216K	probably damaging	Het
Or52e3	T	G	7: 102,869,740 (GRCm39)	Y272D	probably benign	Het
Or5v1b	T	A	17: 37,841,708 (GRCm39)	V280D	probably damaging	Het
Or6b3	A	G	1: 92,439,400 (GRCm39)	S117P	possibly damaging	Het
Pithd1	T	C	4: 135,714,361 (GRCm39)	Y29C	probably benign	Het
Plcb3	T	C	19: 6,939,389 (GRCm39)	T530A	probably benign	Het
Prss40	A	T	1: 34,598,952 (GRCm39)	Y70*	probably null	Het
Ralgps1	T	C	2: 33,214,700 (GRCm39)	M61V	possibly damaging	Het
Rbp4	C	T	19: 38,113,410 (GRCm39)	R36H	possibly damaging	Het
Rnf125	A	G	18: 21,107,490 (GRCm39)	N7S	not run	Het
Rpe65	G	A	3: 159,330,366 (GRCm39)	S511N	probably benign	Het
Rspo4	A	T	2: 151,709,793 (GRCm39)	Y66F	probably damaging	Het
Ruvbl2	A	G	7: 45,071,573 (GRCm39)	S437P	probably benign	Het
Sele	C	A	1: 163,876,288 (GRCm39)	R12S	probably benign	Het
Sgo2b	T	A	8: 64,391,451 (GRCm39)	K139*	probably null	Het
Shroom3	C	A	5: 93,112,465 (GRCm39)	S1942*	probably null	Het
Slc12a9	G	A	5: 137,326,885 (GRCm39)	R191*	probably null	Het
Spag9	G	T	11: 93,999,347 (GRCm39)	V1088L	possibly damaging	Het
Sptb	T	G	12: 76,650,968 (GRCm39)	D1669A	probably damaging	Het
Sptlc2	A	G	12: 87,360,823 (GRCm39)		probably null	Het
Sult2a8	A	T	7: 14,150,254 (GRCm39)		probably null	Het
Synpo2	A	G	3: 122,907,690 (GRCm39)	V542A	probably damaging	Het
Tecpr2	T	C	12: 110,881,914 (GRCm39)		probably null	Het
Tektip1	T	C	10: 81,200,025 (GRCm39)	D165G	possibly damaging	Het
Tenm2	T	C	11: 35,960,241 (GRCm39)	T1029A	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tnfaip8l1	C	A	17: 56,478,897 (GRCm39)	N62K	probably damaging	Het
Tollip	A	G	7: 141,443,334 (GRCm39)	S174P	probably benign	Het
Trp53tg5	A	G	2: 164,313,027 (GRCm39)	I216T	possibly damaging	Het
Tssk5	A	G	15: 76,258,713 (GRCm39)	S58P	probably benign	Het
Ttc9b	T	C	7: 27,354,384 (GRCm39)	Y157H	probably damaging	Het
Tuba8	A	G	6: 121,199,871 (GRCm39)	Y185C	probably damaging	Het
Ubr2	C	T	17: 47,266,771 (GRCm39)	A1127T	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Yipf3	T	A	17: 46,559,855 (GRCm39)	L57Q	possibly damaging	Het
Zbtb32	A	C	7: 30,289,606 (GRCm39)	C19G	probably damaging	Het
Zfp735	A	T	11: 73,602,979 (GRCm39)	H641L	possibly damaging	Het
Zfyve28	A	T	5: 34,389,571 (GRCm39)	Y210N	probably damaging	Het
Zpr1	T	A	9: 46,184,671 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AATGAGGTTGTCAGCGGTGC -3'
(R):5'- TCTCTAGATGGGGAAGTCGAGG -3'

Sequencing Primer
(F):5'- TGCCTCGGGTCACTACAG -3'
(R):5'- GATAGAAGTCTCCTGTCATACAGCTC -3'

Posted On

2019-09-13