Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00980:Npvf'

27712

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npvf

Ensembl Gene

ENSMUSG00000029831

Gene Name

neuropeptide VF precursor

Synonyms

NPVF, Rfrp

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00980

Quality Score

Status

Chromosome

Chromosomal Location

50627652-50631419 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50627865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 185 (K185E)

Ref Sequence

ENSEMBL: ENSMUSP00000031853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031853]

AlphaFold

Q9ESQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031853
AA Change: K185E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031853
Gene: ENSMUSG00000029831
AA Change: K185E

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,293,977 (GRCm39)	Y283*	probably null	Het
Bend3	C	A	10: 43,387,562 (GRCm39)	Q652K	probably damaging	Het
Bltp1	C	T	3: 37,054,190 (GRCm39)	T3103I	probably damaging	Het
Ccdc136	G	A	6: 29,420,257 (GRCm39)	S992N	probably damaging	Het
Cct6a	T	C	5: 129,868,856 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,944,398 (GRCm39)	I203F	probably benign	Het
Cd8b1	C	A	6: 71,309,463 (GRCm39)	C182*	probably null	Het
Cmtr1	T	A	17: 29,910,258 (GRCm39)	D454E	probably benign	Het
Cyp2b13	T	A	7: 25,781,152 (GRCm39)	F188Y	probably benign	Het
Dppa2	T	C	16: 48,132,049 (GRCm39)	S49P	possibly damaging	Het
Fhl5	G	T	4: 25,207,181 (GRCm39)	L196I	possibly damaging	Het
Gimap4	T	A	6: 48,667,872 (GRCm39)	V81D	probably damaging	Het
Gm4884	T	G	7: 40,693,150 (GRCm39)	M373R	probably damaging	Het
Gnrhr	C	T	5: 86,345,162 (GRCm39)		probably null	Het
H2-Oa	T	G	17: 34,313,537 (GRCm39)	L196R	probably damaging	Het
Icosl	T	C	10: 77,907,805 (GRCm39)	S122P	probably damaging	Het
Itpr3	A	G	17: 27,329,930 (GRCm39)	T1575A	probably benign	Het
Krt80	T	C	15: 101,247,879 (GRCm39)	K373E	possibly damaging	Het
Lamp1	G	A	8: 13,221,195 (GRCm39)		probably benign	Het
Nuf2	A	G	1: 169,338,003 (GRCm39)	M258T	probably damaging	Het
Or6b2	T	C	1: 92,407,402 (GRCm39)		probably null	Het
Or8b36	G	A	9: 37,937,107 (GRCm39)	V2I	probably benign	Het
Smurf2	A	C	11: 106,726,921 (GRCm39)	I469S	probably damaging	Het
Soat1	T	A	1: 156,268,911 (GRCm39)	H180L	probably benign	Het
Spink5	G	T	18: 44,140,777 (GRCm39)	D659Y	probably damaging	Het
Sprtn	T	C	8: 125,627,037 (GRCm39)	M139T	probably damaging	Het
Tas2r140	T	C	6: 40,468,352 (GRCm39)	S61P	possibly damaging	Het
Tec	G	A	5: 72,944,141 (GRCm39)	L89F	probably damaging	Het
Trav21-dv12	A	T	14: 54,114,107 (GRCm39)	M76L	probably benign	Het
Ttc7	A	C	17: 87,628,874 (GRCm39)	T271P	possibly damaging	Het
Tyk2	G	A	9: 21,031,884 (GRCm39)	T397I	probably benign	Het
Ugt1a6b	T	A	1: 88,035,327 (GRCm39)	Y222N	possibly damaging	Het
Vmn2r2	A	T	3: 64,024,601 (GRCm39)	M660K	probably benign	Het
Vmn2r52	T	A	7: 9,905,017 (GRCm39)	Y274F	probably damaging	Het
Wscd1	A	C	11: 71,679,768 (GRCm39)	N547T	possibly damaging	Het
Zfp335	C	A	2: 164,744,594 (GRCm39)	E394*	probably null	Het

Other mutations in Npvf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02850:Npvf	APN	6	50,629,670 (GRCm39)	missense	probably benign	0.01
IGL02851:Npvf	APN	6	50,629,670 (GRCm39)	missense	probably benign	0.01
IGL03194:Npvf	APN	6	50,627,878 (GRCm39)	missense	possibly damaging	0.80
R1878:Npvf	UTSW	6	50,631,303 (GRCm39)	missense	probably benign
R8073:Npvf	UTSW	6	50,631,349 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-04-17