Mutagenetix > Incidental Mutation

Incidental Mutation 'R3748:Nrp1'

309929

Institutional Source

Beutler Lab

Gene Symbol

Nrp1

Ensembl Gene

ENSMUSG00000025810

Gene Name

neuropilin 1

Synonyms

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

MMRRC Submission

040733-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3748 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129085085-129229844 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129184461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 369 (W369R)

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: W369R

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

SMART Domains

Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: W369R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212933

Meta Mutation Damage Score

0.9736

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (36/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,112,422 (GRCm39)		probably benign	Het
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abca13	T	C	11: 9,266,119 (GRCm39)		probably benign	Het
Acaca	A	G	11: 84,202,235 (GRCm39)		probably null	Het
Adam2	C	T	14: 66,297,361 (GRCm39)	V182I	probably benign	Het
Adam26b	A	C	8: 43,974,234 (GRCm39)	V256G	probably benign	Het
Cfap68	A	G	9: 50,677,050 (GRCm39)	C14R	probably benign	Het
Cfhr1	C	A	1: 139,485,372 (GRCm39)		probably null	Het
Clcn1	T	A	6: 42,276,849 (GRCm39)	Y393N	probably damaging	Het
Cmss1	T	C	16: 57,122,635 (GRCm39)	E253G	probably damaging	Het
Csmd1	T	G	8: 15,956,071 (GRCm39)	N3379H	probably damaging	Het
Cx3cr1	T	C	9: 119,881,132 (GRCm39)	H90R	probably damaging	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
Daam1	C	A	12: 72,017,940 (GRCm39)	D716E	probably damaging	Het
Dnah8	A	T	17: 31,003,148 (GRCm39)	K3616*	probably null	Het
Fam221a	A	G	6: 49,349,630 (GRCm39)	D2G	probably damaging	Het
Golgb1	G	C	16: 36,739,274 (GRCm39)	D2538H	probably benign	Het
Hoxc12	A	G	15: 102,846,813 (GRCm39)	E235G	probably damaging	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Mfsd4b4	A	G	10: 39,770,132 (GRCm39)		probably benign	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nuf2	T	A	1: 169,352,945 (GRCm39)	N20I	probably damaging	Het
Or13a19	T	C	7: 139,903,041 (GRCm39)	L143P	possibly damaging	Het
Pkdrej	T	A	15: 85,705,278 (GRCm39)	K219N	probably damaging	Het
Primpol	A	T	8: 47,052,848 (GRCm39)	D154E	probably benign	Het
Slk	T	G	19: 47,608,248 (GRCm39)	D400E	possibly damaging	Het
Tdh	T	C	14: 63,733,442 (GRCm39)	T149A	probably benign	Het
Tnip3	C	T	6: 65,591,747 (GRCm39)	L249F	probably damaging	Het
Tpcn2	T	C	7: 144,809,260 (GRCm39)	H682R	probably damaging	Het
Upf1	G	T	8: 70,786,000 (GRCm39)	N975K	possibly damaging	Het
Vmn1r39	T	C	6: 66,781,854 (GRCm39)	N155D	probably benign	Het
Vmn2r27	T	C	6: 124,207,351 (GRCm39)	I97V	probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,938,676 (GRCm39)	P1069S	possibly damaging	Het

Other mutations in Nrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Nrp1	APN	8	129,202,688 (GRCm39)	missense	probably benign
IGL01412:Nrp1	APN	8	129,145,188 (GRCm39)	splice site	probably benign
IGL01586:Nrp1	APN	8	129,158,513 (GRCm39)	missense	possibly damaging	0.86
IGL02307:Nrp1	APN	8	129,229,201 (GRCm39)	missense	probably damaging	1.00
IGL02500:Nrp1	APN	8	129,152,280 (GRCm39)	missense	possibly damaging	0.94
IGL02547:Nrp1	APN	8	129,219,512 (GRCm39)	missense	probably benign
R0046:Nrp1	UTSW	8	129,227,089 (GRCm39)	splice site	probably benign
R0281:Nrp1	UTSW	8	129,187,164 (GRCm39)	missense	probably damaging	0.96
R0403:Nrp1	UTSW	8	129,184,450 (GRCm39)	missense	probably damaging	1.00
R0610:Nrp1	UTSW	8	129,229,099 (GRCm39)	missense	probably damaging	1.00
R1055:Nrp1	UTSW	8	129,195,079 (GRCm39)	missense	possibly damaging	0.68
R1229:Nrp1	UTSW	8	129,145,197 (GRCm39)	nonsense	probably null
R1263:Nrp1	UTSW	8	129,194,870 (GRCm39)	missense	probably damaging	1.00
R1340:Nrp1	UTSW	8	129,160,836 (GRCm39)	missense	probably damaging	1.00
R1397:Nrp1	UTSW	8	129,145,197 (GRCm39)	nonsense	probably null
R1462:Nrp1	UTSW	8	129,229,279 (GRCm39)	missense	probably benign
R1462:Nrp1	UTSW	8	129,229,279 (GRCm39)	missense	probably benign
R1531:Nrp1	UTSW	8	129,152,450 (GRCm39)	missense	probably null	0.19
R1587:Nrp1	UTSW	8	129,202,763 (GRCm39)	missense	probably damaging	1.00
R1719:Nrp1	UTSW	8	129,152,366 (GRCm39)	missense	probably damaging	1.00
R1733:Nrp1	UTSW	8	129,194,974 (GRCm39)	missense	probably benign	0.02
R1785:Nrp1	UTSW	8	129,224,997 (GRCm39)	missense	probably damaging	1.00
R1786:Nrp1	UTSW	8	129,224,997 (GRCm39)	missense	probably damaging	1.00
R2047:Nrp1	UTSW	8	129,224,577 (GRCm39)	splice site	probably benign
R2130:Nrp1	UTSW	8	129,224,997 (GRCm39)	missense	probably damaging	1.00
R2132:Nrp1	UTSW	8	129,224,997 (GRCm39)	missense	probably damaging	1.00
R2133:Nrp1	UTSW	8	129,224,997 (GRCm39)	missense	probably damaging	1.00
R2163:Nrp1	UTSW	8	129,224,352 (GRCm39)	missense	probably damaging	1.00
R2338:Nrp1	UTSW	8	129,224,385 (GRCm39)	missense	probably benign	0.01
R2407:Nrp1	UTSW	8	129,158,426 (GRCm39)	missense	probably damaging	0.99
R3405:Nrp1	UTSW	8	129,224,569 (GRCm39)	nonsense	probably null
R4347:Nrp1	UTSW	8	129,207,472 (GRCm39)	critical splice donor site	probably null
R4379:Nrp1	UTSW	8	129,194,948 (GRCm39)	missense	probably damaging	1.00
R4646:Nrp1	UTSW	8	129,184,425 (GRCm39)	missense	probably benign	0.00
R4688:Nrp1	UTSW	8	129,229,047 (GRCm39)	missense	probably benign	0.01
R4916:Nrp1	UTSW	8	129,229,285 (GRCm39)	nonsense	probably null
R5077:Nrp1	UTSW	8	129,227,154 (GRCm39)	critical splice donor site	probably null
R5301:Nrp1	UTSW	8	129,160,678 (GRCm39)	splice site	probably null
R5509:Nrp1	UTSW	8	129,152,396 (GRCm39)	missense	possibly damaging	0.73
R5745:Nrp1	UTSW	8	129,194,929 (GRCm39)	missense	probably benign	0.22
R5873:Nrp1	UTSW	8	129,194,858 (GRCm39)	missense	probably damaging	1.00
R5987:Nrp1	UTSW	8	129,202,650 (GRCm39)	missense	probably damaging	1.00
R6060:Nrp1	UTSW	8	129,224,419 (GRCm39)	missense	probably damaging	1.00
R6757:Nrp1	UTSW	8	129,152,349 (GRCm39)	missense	probably damaging	1.00
R6889:Nrp1	UTSW	8	129,219,538 (GRCm39)	missense	probably damaging	1.00
R7025:Nrp1	UTSW	8	129,207,435 (GRCm39)	missense	probably damaging	1.00
R7065:Nrp1	UTSW	8	129,187,193 (GRCm39)	missense	probably benign
R7290:Nrp1	UTSW	8	129,202,777 (GRCm39)	critical splice donor site	probably null
R7369:Nrp1	UTSW	8	129,158,396 (GRCm39)	missense	probably damaging	1.00
R7553:Nrp1	UTSW	8	129,158,468 (GRCm39)	missense	probably damaging	1.00
R7650:Nrp1	UTSW	8	129,224,495 (GRCm39)	missense	possibly damaging	0.87
R8043:Nrp1	UTSW	8	129,158,504 (GRCm39)	missense	probably benign	0.00
R8088:Nrp1	UTSW	8	129,194,997 (GRCm39)	nonsense	probably null
R8193:Nrp1	UTSW	8	129,187,187 (GRCm39)	missense	probably damaging	1.00
R8206:Nrp1	UTSW	8	129,184,438 (GRCm39)	missense	probably damaging	0.99
R8245:Nrp1	UTSW	8	129,214,434 (GRCm39)	missense	probably benign
R8684:Nrp1	UTSW	8	129,085,885 (GRCm39)	start gained	probably benign
R8734:Nrp1	UTSW	8	129,207,420 (GRCm39)	missense	probably benign	0.23
R8875:Nrp1	UTSW	8	129,207,472 (GRCm39)	critical splice donor site	probably null
R9054:Nrp1	UTSW	8	129,214,389 (GRCm39)	missense	probably benign
R9253:Nrp1	UTSW	8	129,229,144 (GRCm39)	missense	possibly damaging	0.47
R9301:Nrp1	UTSW	8	129,089,859 (GRCm39)	missense	probably damaging	1.00
R9437:Nrp1	UTSW	8	129,187,108 (GRCm39)	missense	probably benign	0.01
R9606:Nrp1	UTSW	8	129,229,029 (GRCm39)	missense	probably benign	0.00
R9607:Nrp1	UTSW	8	129,152,262 (GRCm39)	missense	probably benign	0.01
R9691:Nrp1	UTSW	8	129,202,650 (GRCm39)	missense	probably damaging	1.00
X0066:Nrp1	UTSW	8	129,187,126 (GRCm39)	missense	possibly damaging	0.95
Z1186:Nrp1	UTSW	8	129,224,419 (GRCm39)	missense	probably damaging	1.00
Z1189:Nrp1	UTSW	8	129,224,419 (GRCm39)	missense	probably damaging	1.00
Z1192:Nrp1	UTSW	8	129,224,419 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGGAAAAGCTGTTTAGGTC -3'
(R):5'- TTCGGATCTGGGAACATGAGAC -3'

Sequencing Primer
(F):5'- AGGTCACAGCTGTGCTTG -3'
(R):5'- CTGGGAACATGAGACTCTTTAAACC -3'

Posted On

2015-04-17