Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Nrp1'

584561

Institutional Source

Beutler Lab

Gene Symbol

Nrp1

Ensembl Gene

ENSMUSG00000025810

Gene Name

neuropilin 1

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7553 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128358604-128503363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128431987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 252 (A252T)

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 damaging
Transcript: ENSMUST00000026917
AA Change: A252T

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

SMART Domains

Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: A252T

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,999,121	L649P	probably damaging	Het
Acad10	T	C	5: 121,639,255	Y371C	probably damaging	Het
Avp	A	G	2: 130,581,178	V71A	probably damaging	Het
Bhmt	C	T	13: 93,620,081		probably null	Het
Capn15	T	C	17: 25,960,764	E874G	probably damaging	Het
Capn5	A	G	7: 98,124,024	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348	Q292L	probably benign	Het
Cd96	T	G	16: 46,052,021	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,426,366	A153V	probably damaging	Het
Dlk1	G	A	12: 109,454,963	V15I	unknown	Het
Dmbt1	A	G	7: 131,104,867	N1372S	unknown	Het
Dntt	A	T	19: 41,029,487	R17W	probably damaging	Het
Erich3	G	T	3: 154,733,500	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,882	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm9268	T	G	7: 43,048,023	C835G	probably damaging	Het
Grid2	A	G	6: 64,076,941	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,772,396	G603S	possibly damaging	Het
Hexb	C	T	13: 97,198,173	R30Q	probably benign	Het
Homer3	A	T	8: 70,290,124	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,948,231	E15G	probably benign	Het
Manea	A	T	4: 26,327,986	F352I	probably damaging	Het
Mcf2l	T	A	8: 12,997,268	M210K	probably benign	Het
Morc3	T	C	16: 93,870,936	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,506,147	V894A	possibly damaging	Het
Myh4	T	A	11: 67,256,395	M1622K	probably damaging	Het
Myrf	A	G	19: 10,228,876	F59L	probably benign	Het
Ndst3	G	T	3: 123,557,060		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,050,416		probably null	Het
Nos3	A	T	5: 24,381,717	D986V	possibly damaging	Het
Nup205	G	T	6: 35,201,999	R668L	probably damaging	Het
Olfr313	T	A	11: 58,817,060	D17E	probably benign	Het
Olfr477	G	A	7: 107,990,475	V37I	probably benign	Het
Olfr612	T	C	7: 103,539,156	Y26C	probably damaging	Het
Pcdhga1	T	A	18: 37,749,682		probably null	Het
Pck1	A	G	2: 173,157,067	I373V	probably benign	Het
Pde8b	T	C	13: 95,086,750	N227S	probably benign	Het
Pianp	T	G	6: 124,999,251	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2r1	A	T	2: 60,522,899	N239K	possibly damaging	Het
Pls1	T	A	9: 95,787,087	N27I	probably damaging	Het
Prep	T	C	10: 45,158,524	*711Q	probably null	Het
Prkag3	A	G	1: 74,744,735	F330L	probably damaging	Het
Prss56	A	G	1: 87,183,539	D16G	probably benign	Het
Rad17	A	T	13: 100,633,286	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,435,722	E173G	probably damaging	Het
Retreg3	C	T	11: 101,106,390	R88H	possibly damaging	Het
Rhag	G	A	17: 40,828,395	G74R	probably damaging	Het
Rybp	A	G	6: 100,232,259	S201P	possibly damaging	Het
S100a10	G	A	3: 93,564,295	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,360,248	S34C	possibly damaging	Het
Serpind1	A	G	16: 17,336,675	D122G	probably benign	Het
Setdb1	A	G	3: 95,346,765	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,155,588	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,412,269	E266G	probably damaging	Het
Stard9	A	T	2: 120,693,808		probably null	Het
Stpg2	A	G	3: 139,218,337	Y167C	probably damaging	Het
Tex264	T	C	9: 106,659,136	E274G	probably damaging	Het
Tigd2	G	A	6: 59,211,579	S477N	probably benign	Het
Urb1	A	G	16: 90,792,864	L343P	probably damaging	Het
Vars2	A	T	17: 35,664,788	C246S	possibly damaging	Het
Vil1	G	A	1: 74,426,732		probably null	Het
Vmn2r61	C	G	7: 42,266,781	L273V	not run	Het
Zfp37	C	A	4: 62,191,999	G317V	probably damaging	Het
Zfp760	A	G	17: 21,722,891	K349R	possibly damaging	Het
Zyx	A	T	6: 42,350,474	E69V	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
IGL02547:Nrp1	APN	8	128493031	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTGACAGCCATCCTTGTG -3'
(R):5'- GCAGTGTGCAGACCTTTTCC -3'

Sequencing Primer
(F):5'- GTGTTCCTCCGAGACTTGTC -3'
(R):5'- CCAATTGACACCCACGTTTG -3'

Posted On

2019-10-17