Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02547:Nrp1'

297878

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrp1

Ensembl Gene

ENSMUSG00000025810

Gene Name

neuropilin 1

Synonyms

Neuropilin-1, NP-1, NPN-1, Npn1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02547

Quality Score

Status

Chromosome

Chromosomal Location

128358604-128503363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128493031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 643 (F643L)

Ref Sequence

ENSEMBL: ENSMUSP00000026917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026917]

AlphaFold

P97333

PDB Structure

Mouse Neuropilin-1, extracellular domains 1-4 (a1a2b1b2) [X-RAY DIFFRACTION]
Complex of mouse Plexin A2 - Semaphorin 3A - Neuropilin-1 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000026917
AA Change: F643L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: F643L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CUB	27	141	1.44e-43	SMART
CUB	147	265	9.19e-42	SMART
FA58C	274	424	5.21e-44	SMART
FA58C	430	583	4.15e-20	SMART
low complexity region	587	599	N/A	INTRINSIC
MAM	645	811	4.94e-69	SMART
Pfam:DUF3481	837	920	3.5e-31	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	C	T	5: 109,678,762		probably null	Het
Akap6	T	A	12: 53,140,696	L1631H	probably damaging	Het
Atf7ip	T	A	6: 136,603,276		probably benign	Het
Atp5o	A	T	16: 91,928,961	Y48N	probably damaging	Het
Birc6	T	G	17: 74,579,645	M656R	probably benign	Het
Camkk1	A	G	11: 73,038,433	R455G	probably benign	Het
Casr	A	T	16: 36,515,674	M91K	probably benign	Het
Ccdc28a	A	T	10: 18,214,146	V124D	possibly damaging	Het
Ccnh	T	C	13: 85,202,504		probably benign	Het
Cdc37	G	T	9: 21,139,966		probably benign	Het
Cdon	A	G	9: 35,478,654	D868G	probably damaging	Het
Cyp4f15	A	G	17: 32,700,255	R351G	probably benign	Het
Dclk3	T	C	9: 111,469,023	I545T	probably damaging	Het
Dock4	A	G	12: 40,737,479	M798V	probably benign	Het
Gas7	A	T	11: 67,665,435	Q200L	probably damaging	Het
Gm15448	T	C	7: 3,821,661	D573G	probably damaging	Het
Gm4758	A	T	16: 36,312,526		probably benign	Het
Gm6614	A	T	6: 141,990,390	L323Q	probably damaging	Het
Ica1	T	C	6: 8,670,691		probably null	Het
Idh3a	T	A	9: 54,592,395	V31D	probably benign	Het
Il3ra	A	T	14: 14,351,970	T247S	probably benign	Het
Itgb7	A	G	15: 102,218,510	C497R	probably damaging	Het
Itm2c	T	C	1: 85,906,461	Y166H	probably damaging	Het
Mphosph8	A	G	14: 56,672,484	D98G	probably damaging	Het
Mstn	A	T	1: 53,064,125	I207F	probably benign	Het
Muc15	A	G	2: 110,731,305	R29G	probably damaging	Het
Neb	T	A	2: 52,188,730	T142S	probably damaging	Het
Nipbl	G	A	15: 8,351,598	T570I	probably benign	Het
Nr5a2	T	A	1: 136,940,927	M196L	probably benign	Het
Olfr1098	A	G	2: 86,923,028	F168S	probably damaging	Het
Olfr1441	A	T	19: 12,422,311	M1L	probably benign	Het
Olfr600	A	G	7: 103,346,244	F228S	probably damaging	Het
Olfr625-ps1	T	C	7: 103,682,766	I16T	probably benign	Het
Osbpl9	C	T	4: 109,068,483	W446*	probably null	Het
Pced1a	T	C	2: 130,419,707	D342G	possibly damaging	Het
Prkcd	C	A	14: 30,599,469	W555L	probably damaging	Het
Prpf31	T	C	7: 3,630,899	S78P	probably benign	Het
Psg27	T	C	7: 18,560,628	T285A	probably benign	Het
Retreg3	A	T	11: 101,106,378	L92*	probably null	Het
Rmdn1	A	G	4: 19,605,501	K282E	possibly damaging	Het
Sept8	G	T	11: 53,537,265	R302L	probably damaging	Het
Serpina3a	A	G	12: 104,116,543	I192V	probably damaging	Het
Sgce	T	C	6: 4,711,301		probably benign	Het
Spats1	A	T	17: 45,474,817		probably benign	Het
Tcerg1l	C	T	7: 138,248,371		probably null	Het
Ttn	A	G	2: 76,729,386	V21230A	probably damaging	Het
Ubxn11	A	C	4: 134,109,584	D41A	possibly damaging	Het
Vps13c	T	G	9: 67,908,019	I979S	possibly damaging	Het
Zc3h6	T	A	2: 129,015,611	H683Q	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp629	T	C	7: 127,611,674		probably null	Het

Other mutations in Nrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Nrp1	APN	8	128476207	missense	probably benign
IGL01412:Nrp1	APN	8	128418707	splice site	probably benign
IGL01586:Nrp1	APN	8	128432032	missense	possibly damaging	0.86
IGL02307:Nrp1	APN	8	128502720	missense	probably damaging	1.00
IGL02500:Nrp1	APN	8	128425799	missense	possibly damaging	0.94
R0046:Nrp1	UTSW	8	128500608	splice site	probably benign
R0281:Nrp1	UTSW	8	128460683	missense	probably damaging	0.96
R0403:Nrp1	UTSW	8	128457969	missense	probably damaging	1.00
R0610:Nrp1	UTSW	8	128502618	missense	probably damaging	1.00
R1055:Nrp1	UTSW	8	128468598	missense	possibly damaging	0.68
R1229:Nrp1	UTSW	8	128418716	nonsense	probably null
R1263:Nrp1	UTSW	8	128468389	missense	probably damaging	1.00
R1340:Nrp1	UTSW	8	128434355	missense	probably damaging	1.00
R1397:Nrp1	UTSW	8	128418716	nonsense	probably null
R1462:Nrp1	UTSW	8	128502798	missense	probably benign
R1462:Nrp1	UTSW	8	128502798	missense	probably benign
R1531:Nrp1	UTSW	8	128425969	missense	probably null	0.19
R1587:Nrp1	UTSW	8	128476282	missense	probably damaging	1.00
R1719:Nrp1	UTSW	8	128425885	missense	probably damaging	1.00
R1733:Nrp1	UTSW	8	128468493	missense	probably benign	0.02
R1785:Nrp1	UTSW	8	128498516	missense	probably damaging	1.00
R1786:Nrp1	UTSW	8	128498516	missense	probably damaging	1.00
R2047:Nrp1	UTSW	8	128498096	splice site	probably benign
R2130:Nrp1	UTSW	8	128498516	missense	probably damaging	1.00
R2132:Nrp1	UTSW	8	128498516	missense	probably damaging	1.00
R2133:Nrp1	UTSW	8	128498516	missense	probably damaging	1.00
R2163:Nrp1	UTSW	8	128497871	missense	probably damaging	1.00
R2338:Nrp1	UTSW	8	128497904	missense	probably benign	0.01
R2407:Nrp1	UTSW	8	128431945	missense	probably damaging	0.99
R3405:Nrp1	UTSW	8	128498088	nonsense	probably null
R3748:Nrp1	UTSW	8	128457980	missense	probably damaging	1.00
R4347:Nrp1	UTSW	8	128480991	critical splice donor site	probably null
R4379:Nrp1	UTSW	8	128468467	missense	probably damaging	1.00
R4646:Nrp1	UTSW	8	128457944	missense	probably benign	0.00
R4688:Nrp1	UTSW	8	128502566	missense	probably benign	0.01
R4916:Nrp1	UTSW	8	128502804	nonsense	probably null
R5077:Nrp1	UTSW	8	128500673	critical splice donor site	probably null
R5301:Nrp1	UTSW	8	128434197	splice site	probably null
R5509:Nrp1	UTSW	8	128425915	missense	possibly damaging	0.73
R5745:Nrp1	UTSW	8	128468448	missense	probably benign	0.22
R5873:Nrp1	UTSW	8	128468377	missense	probably damaging	1.00
R5987:Nrp1	UTSW	8	128476169	missense	probably damaging	1.00
R6060:Nrp1	UTSW	8	128497938	missense	probably damaging	1.00
R6757:Nrp1	UTSW	8	128425868	missense	probably damaging	1.00
R6889:Nrp1	UTSW	8	128493057	missense	probably damaging	1.00
R7025:Nrp1	UTSW	8	128480954	missense	probably damaging	1.00
R7065:Nrp1	UTSW	8	128460712	missense	probably benign
R7290:Nrp1	UTSW	8	128476296	critical splice donor site	probably null
R7369:Nrp1	UTSW	8	128431915	missense	probably damaging	1.00
R7553:Nrp1	UTSW	8	128431987	missense	probably damaging	1.00
R7650:Nrp1	UTSW	8	128498014	missense	possibly damaging	0.87
R8043:Nrp1	UTSW	8	128432023	missense	probably benign	0.00
R8088:Nrp1	UTSW	8	128468516	nonsense	probably null
R8193:Nrp1	UTSW	8	128460706	missense	probably damaging	1.00
R8206:Nrp1	UTSW	8	128457957	missense	probably damaging	0.99
R8245:Nrp1	UTSW	8	128487953	missense	probably benign
R8684:Nrp1	UTSW	8	128359404	start gained	probably benign
R8734:Nrp1	UTSW	8	128480939	missense	probably benign	0.23
R8875:Nrp1	UTSW	8	128480991	critical splice donor site	probably null
R9054:Nrp1	UTSW	8	128487908	missense	probably benign
R9253:Nrp1	UTSW	8	128502663	missense	possibly damaging	0.47
R9301:Nrp1	UTSW	8	128363378	missense	probably damaging	1.00
R9437:Nrp1	UTSW	8	128460627	missense	probably benign	0.01
R9606:Nrp1	UTSW	8	128502548	missense	probably benign	0.00
R9607:Nrp1	UTSW	8	128425781	missense	probably benign	0.01
R9691:Nrp1	UTSW	8	128476169	missense	probably damaging	1.00
X0066:Nrp1	UTSW	8	128460645	missense	possibly damaging	0.95
Z1186:Nrp1	UTSW	8	128497938	missense	probably damaging	1.00
Z1189:Nrp1	UTSW	8	128497938	missense	probably damaging	1.00
Z1192:Nrp1	UTSW	8	128497938	missense	probably damaging	1.00

Posted On

2015-04-16