Incidental Mutation 'R8206:Nrp1'
ID 635919
Institutional Source Beutler Lab
Gene Symbol Nrp1
Ensembl Gene ENSMUSG00000025810
Gene Name neuropilin 1
Synonyms NP-1, Neuropilin-1, Npn1, NPN-1
MMRRC Submission 067629-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8206 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 129085085-129229844 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129184438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 361 (D361G)
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: D361G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: D361G

DomainStartEndE-ValueType
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: 99.0%
Validation Efficiency 100% (50/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,860,958 (GRCm39) Y342H probably damaging Het
Aqp4 T A 18: 15,526,716 (GRCm39) D255V possibly damaging Het
Arhgap26 C A 18: 39,439,803 (GRCm39) S247* probably null Het
Arid4a A G 12: 71,133,361 (GRCm39) D1154G probably damaging Het
Atpaf2 A G 11: 60,295,304 (GRCm39) I182T probably damaging Het
Cacna1i C A 15: 80,274,016 (GRCm39) probably null Het
Ccdc38 A G 10: 93,399,146 (GRCm39) S205G probably damaging Het
Cep63 A G 9: 102,498,470 (GRCm39) probably benign Het
Cripto G A 9: 110,773,352 (GRCm39) probably benign Het
Cyp24a1 T C 2: 170,333,589 (GRCm39) T255A possibly damaging Het
Dlg5 A G 14: 24,210,336 (GRCm39) S787P possibly damaging Het
Dnah6 A T 6: 73,014,549 (GRCm39) C3679* probably null Het
Dpy19l3 T C 7: 35,429,155 (GRCm39) Y95C probably damaging Het
Erc2 G A 14: 28,024,972 (GRCm39) probably null Het
Ezh2 A T 6: 47,509,834 (GRCm39) probably null Het
Fgfr1 A G 8: 26,060,258 (GRCm39) T463A probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fsip2 T C 2: 82,820,808 (GRCm39) S5514P possibly damaging Het
Glrb A G 3: 80,758,373 (GRCm39) Y347H probably damaging Het
Gm14325 C A 2: 177,474,767 (GRCm39) C105F probably damaging Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Ighv1-76 T C 12: 115,811,934 (GRCm39) M1V probably null Het
Inppl1 A G 7: 101,472,783 (GRCm39) I1207T possibly damaging Het
Kmt2c T A 5: 25,519,537 (GRCm39) Q2191L probably damaging Het
Krt79 T A 15: 101,848,705 (GRCm39) probably null Het
Mast4 G A 13: 102,872,247 (GRCm39) L2374F probably damaging Het
Mgam A G 6: 40,657,169 (GRCm39) N951S probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 A T 13: 100,431,344 (GRCm39) C1164* probably null Het
Nfatc2ip G T 7: 125,989,906 (GRCm39) D189E probably damaging Het
Nrp2 T C 1: 62,786,374 (GRCm39) I293T probably damaging Het
Pate5 A T 9: 35,750,719 (GRCm39) F34L possibly damaging Het
Pde3a T C 6: 141,433,611 (GRCm39) V831A probably damaging Het
Pirb A G 7: 3,715,905 (GRCm39) probably null Het
Plch1 G T 3: 63,610,047 (GRCm39) probably null Het
Plekhh2 A G 17: 84,898,277 (GRCm39) T973A possibly damaging Het
Ppp1r35 T A 5: 137,778,296 (GRCm39) I97K unknown Het
Ppp1r3c C T 19: 36,710,846 (GRCm39) G308E probably benign Het
Prss12 G A 3: 123,258,611 (GRCm39) probably null Het
Rad51b A G 12: 79,361,715 (GRCm39) D142G probably damaging Het
Slc13a3 C T 2: 165,248,745 (GRCm39) G553D probably damaging Het
Spata31d1d A C 13: 59,879,344 (GRCm39) V64G probably benign Het
Srp68 G A 11: 116,164,809 (GRCm39) R42C probably damaging Het
Syne2 T C 12: 76,062,365 (GRCm39) V4229A probably benign Het
Tas2r144 G A 6: 42,192,325 (GRCm39) V22M probably damaging Het
Tcf7l1 A G 6: 72,604,395 (GRCm39) L583P probably damaging Het
Tdrd3 A G 14: 87,749,214 (GRCm39) D708G probably benign Het
Tns4 A T 11: 98,976,627 (GRCm39) L98Q probably damaging Het
Zfp677 T A 17: 21,612,717 (GRCm39) probably null Het
Other mutations in Nrp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CGGATCTGGGAACATGAGACTC -3'

Sequencing Primer
(F):5'- AGGTCACAGCTGTGCTTG -3'
(R):5'- CTGGGAACATGAGACTCTTTAAACC -3'
Posted On 2020-07-13