Mutagenetix > Incidental Mutation

Incidental Mutation 'R9437:Nrp1'

713327

Institutional Source

Beutler Lab

Gene Symbol

Nrp1

Ensembl Gene

ENSMUSG00000025810

Gene Name

neuropilin 1

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9437 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129085085-129229844 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129187108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 385 (T385A)

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: T385A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: T385A

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	T	C	17: 32,553,608 (GRCm39)	S371G	probably benign	Het
Bdp1	A	G	13: 100,162,158 (GRCm39)	S2255P	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Copa	G	A	1: 171,931,712 (GRCm39)	R321H	possibly damaging	Het
Cyp2b23	A	T	7: 26,372,199 (GRCm39)	D415E	possibly damaging	Het
Dcun1d2	T	C	8: 13,331,004 (GRCm39)	D42G	probably benign	Het
Ebf4	T	A	2: 130,202,005 (GRCm39)	S325T	probably benign	Het
Ergic2	T	C	6: 148,097,562 (GRCm39)	E137G	probably benign	Het
Etl4	T	C	2: 20,813,872 (GRCm39)	S1304P	probably benign	Het
Fam24b	A	T	7: 130,927,893 (GRCm39)	C99S	probably benign	Het
Fat4	A	G	3: 38,945,417 (GRCm39)	T1437A	probably benign	Het
Fgd5	A	G	6: 91,964,627 (GRCm39)	T287A	probably benign	Het
Fscb	G	T	12: 64,519,708 (GRCm39)	A586E	unknown	Het
Gm2244	A	T	14: 19,599,038 (GRCm39)	I86N	probably damaging	Het
Hnrnph3	T	A	10: 62,854,627 (GRCm39)	R55*	probably null	Het
Kcnk5	A	C	14: 20,192,468 (GRCm39)	I231S	probably damaging	Het
Krt10	A	G	11: 99,276,390 (GRCm39)	M87T	probably benign	Het
Ly6c2	C	G	15: 74,983,535 (GRCm39)		probably benign	Het
Map4	C	A	9: 109,864,155 (GRCm39)	T460K	possibly damaging	Het
Mok	A	G	12: 110,774,659 (GRCm39)	C388R	probably benign	Het
Ms4a3	T	C	19: 11,607,065 (GRCm39)	D200G	possibly damaging	Het
Ncapd2	A	G	6: 125,153,655 (GRCm39)	Y687H	probably damaging	Het
Or2w25	T	C	11: 59,504,195 (GRCm39)	M135T	possibly damaging	Het
Or56a41	A	T	7: 104,739,963 (GRCm39)	Y294*	probably null	Het
Osbp2	A	G	11: 3,664,581 (GRCm39)	S131P	probably damaging	Het
Pcdhga3	G	A	18: 37,808,144 (GRCm39)	R199H	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pigx	G	T	16: 31,918,310 (GRCm39)	D26E	probably benign	Het
Pkn3	T	C	2: 29,973,267 (GRCm39)	I363T	possibly damaging	Het
Psg16	T	A	7: 16,827,715 (GRCm39)	Y133N	probably damaging	Het
Pygl	A	G	12: 70,246,925 (GRCm39)	I407T	probably damaging	Het
Rc3h2	G	A	2: 37,272,841 (GRCm39)	A745V	possibly damaging	Het
Srgap1	T	C	10: 121,636,777 (GRCm39)	E703G	probably benign	Het
Susd4	T	C	1: 182,681,697 (GRCm39)		probably null	Het
Tbpl1	T	C	10: 22,587,838 (GRCm39)	N37S	probably damaging	Het
Tex264	T	C	9: 106,559,096 (GRCm39)	I77V	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
R3748:Nrp1	UTSW	8	129,184,461 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCTGTAGCCACTCAAGCAAG -3'
(R):5'- GGAAAAGTCTACATCAATTCAAGGG -3'

Sequencing Primer
(F):5'- GTATTCTACACTGGACAGGGC -3'
(R):5'- ATTCAAGGGGGACACTTCCATTCTG -3'

Posted On

2022-05-16