Mutagenetix > Incidental Mutation

Incidental Mutation 'R2407:Nrp1'

248059

Institutional Source

Beutler Lab

Gene Symbol

Nrp1

Ensembl Gene

ENSMUSG00000025810

Gene Name

neuropilin 1

Synonyms

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

MMRRC Submission

040373-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2407 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129085085-129229844 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129158426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 238 (S238P)

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: S238P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: S238P

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: ENSMUST00000212746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212933

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.7%

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
4930544G11Rik	A	T	6: 65,930,212 (GRCm39)	N149I	probably benign	Het
Agxt	G	T	1: 93,063,502 (GRCm39)	A135S	probably benign	Het
Aldh1a2	A	T	9: 71,159,880 (GRCm39)	I40F	probably damaging	Het
Ang	T	A	14: 51,339,103 (GRCm39)	C81*	probably null	Het
Apc	G	T	18: 34,447,315 (GRCm39)	V1370F	possibly damaging	Het
Arfgef3	T	C	10: 18,553,614 (GRCm39)	T127A	possibly damaging	Het
Cd1d1	A	G	3: 86,905,489 (GRCm39)	L168P	probably damaging	Het
Cfap251	A	T	5: 123,428,032 (GRCm39)	M510L	probably benign	Het
Epb42	C	A	2: 120,855,233 (GRCm39)	V451F	probably damaging	Het
F5	T	A	1: 164,039,441 (GRCm39)	L2017Q	probably damaging	Het
Hmcn2	A	T	2: 31,225,424 (GRCm39)		probably null	Het
Kif13a	G	A	13: 46,930,573 (GRCm39)	P164S	probably damaging	Het
Kirrel1	T	A	3: 86,992,150 (GRCm39)	I593F	probably benign	Het
Lin28b	A	T	10: 45,257,183 (GRCm39)	I265N	possibly damaging	Het
Mctp2	A	T	7: 71,850,155 (GRCm39)	D507E	probably benign	Het
Morc3	G	A	16: 93,641,215 (GRCm39)		probably null	Het
Myo3b	T	C	2: 70,085,597 (GRCm39)	Y750H	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Otog	A	G	7: 45,890,964 (GRCm39)	E41G	probably benign	Het
Pclo	G	T	5: 14,728,946 (GRCm39)		probably benign	Het
Pdzd2	T	C	15: 12,373,247 (GRCm39)	D2296G	probably damaging	Het
Peak1	A	G	9: 56,166,510 (GRCm39)	C473R	probably damaging	Het
Rad51ap2	T	A	12: 11,508,502 (GRCm39)	M808K	probably damaging	Het
Sec24b	A	C	3: 129,795,965 (GRCm39)	S651A	probably benign	Het
Slc17a3	G	A	13: 24,036,418 (GRCm39)		probably null	Het
Slc4a10	A	G	2: 62,143,687 (GRCm39)	H1074R	probably benign	Het
Spata31d1b	A	G	13: 59,864,660 (GRCm39)	K603E	possibly damaging	Het
Spata31e2	A	T	1: 26,721,919 (GRCm39)	M1087K	possibly damaging	Het
Sptbn4	T	A	7: 27,117,523 (GRCm39)	K409*	probably null	Het
Tacc2	G	A	7: 130,223,770 (GRCm39)	V152I	possibly damaging	Het
Tiam2	A	G	17: 3,527,536 (GRCm39)	M65V	probably benign	Het
Tmem131l	G	T	3: 83,829,355 (GRCm39)	Q1100K	probably benign	Het
Togaram1	T	C	12: 65,014,444 (GRCm39)	M565T	probably damaging	Het
Trib1	T	C	15: 59,526,449 (GRCm39)	Y340H	probably benign	Het
Wdr7	A	T	18: 63,893,794 (GRCm39)	M643L	probably benign	Het
Zfp51	A	T	17: 21,684,093 (GRCm39)	H236L	probably 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
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
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'- TCCTGCAAATGCTCCTCTGAG -3'
(R):5'- GCCTCAGGTGTGTGAGAAATAATG -3'

Sequencing Primer
(F):5'- GTTAACCAGGGGACACTCACATTAG -3'
(R):5'- ATAATGGGCAGTGTTTACTACAGG -3'

Posted On

2014-11-11