Incidental Mutation 'R1397:Nrp1'
ID 160187
Institutional Source Beutler Lab
Gene Symbol Nrp1
Ensembl Gene ENSMUSG00000025810
Gene Name neuropilin 1
Synonyms NP-1, Neuropilin-1, Npn1, NPN-1
MMRRC Submission 039459-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1397 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 129085085-129229844 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 129145197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 84 (Y84*)
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 null
Transcript: ENSMUST00000026917
AA Change: Y84*
SMART Domains Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: Y84*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212933
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.0%
Validation Efficiency 98% (59/60)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,504,733 (GRCm39) E1222G probably benign Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Ankmy2 T C 12: 36,220,440 (GRCm39) probably benign Het
Arhgef10l C T 4: 140,271,754 (GRCm39) G827D probably damaging Het
Chrac1 A G 15: 72,962,293 (GRCm39) D3G possibly damaging Het
Dmrtb1 G C 4: 107,534,236 (GRCm39) P349R probably damaging Het
Drd1 A G 13: 54,207,573 (GRCm39) Y207H probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Epb41l3 T A 17: 69,569,343 (GRCm39) probably null Het
Fam13b C T 18: 34,578,636 (GRCm39) M705I probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Iqgap2 A G 13: 95,768,673 (GRCm39) I1409T probably benign Het
Itih1 C T 14: 30,651,862 (GRCm39) probably benign Het
Itih5 A T 2: 10,245,618 (GRCm39) D569V probably benign Het
Krt9 A T 11: 100,083,464 (GRCm39) L189Q probably damaging Het
Mfsd11 T C 11: 116,764,123 (GRCm39) F368S probably damaging Het
Neb C A 2: 52,133,955 (GRCm39) V3343F probably damaging Het
Nfe2l3 T C 6: 51,410,274 (GRCm39) S130P probably benign Het
Nid1 G A 13: 13,683,380 (GRCm39) A1153T possibly damaging Het
Nr2c2 T C 6: 92,126,745 (GRCm39) I78T probably benign Het
Pate2 T A 9: 35,580,991 (GRCm39) F2I probably damaging Het
Pign A G 1: 105,585,496 (GRCm39) S18P probably damaging Het
Pla2r1 T A 2: 60,365,106 (GRCm39) T155S probably benign Het
Rabl3 C T 16: 37,360,336 (GRCm39) probably benign Het
Rhbg C T 3: 88,155,753 (GRCm39) V66I probably benign Het
Rimkla C T 4: 119,325,308 (GRCm39) G367E probably benign Het
Rnpepl1 C A 1: 92,844,881 (GRCm39) T391N probably damaging Het
Rnps1 C T 17: 24,631,031 (GRCm39) probably benign Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Slc25a48 A C 13: 56,612,864 (GRCm39) D254A probably damaging Het
Slc28a2 T A 2: 122,291,012 (GRCm39) C659* probably null Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Spata31d1a C T 13: 59,852,853 (GRCm39) probably benign Het
Srrm1 A C 4: 135,048,742 (GRCm39) probably benign Het
Srrt A G 5: 137,298,523 (GRCm39) V247A possibly damaging Het
Tnks2 T C 19: 36,857,901 (GRCm39) probably benign Het
Trim33 A G 3: 103,217,750 (GRCm39) probably benign Het
Trim42 T A 9: 97,247,674 (GRCm39) I341F probably damaging Het
Trim55 T C 3: 19,698,801 (GRCm39) F10S probably benign Het
Trpm1 T C 7: 63,867,406 (GRCm39) W369R probably damaging Het
Vps13d C T 4: 144,867,904 (GRCm39) R1976H probably damaging 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
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
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'- TGTCCCACATTATGCACAGGACAC -3'
(R):5'- ATAGCGGATGGAAAACCCTGCC -3'

Sequencing Primer
(F):5'- GTCTGCAAGTATAATGGACACC -3'
(R):5'- CCCATGTGTCTCATAGTCAGAG -3'
Posted On 2014-03-14