Incidental Mutation 'R1055:Nrp1'
ID 94279
Institutional Source Beutler Lab
Gene Symbol Nrp1
Ensembl Gene ENSMUSG00000025810
Gene Name neuropilin 1
Synonyms NP-1, Neuropilin-1, Npn1, NPN-1
MMRRC Submission 039145-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1055 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 129085085-129229844 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129195079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 512 (M512V)
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 possibly damaging
Transcript: ENSMUST00000026917
AA Change: M512V

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: M512V

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
Meta Mutation Damage Score 0.1020 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.3%
  • 20x: 87.5%
Validation Efficiency 100% (58/58)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A G 14: 64,210,724 (GRCm39) V168A possibly damaging Het
A1cf C A 19: 31,909,919 (GRCm39) T237N probably benign Het
Actl10 A T 2: 154,394,588 (GRCm39) Q180L probably benign Het
Adcy1 T C 11: 7,059,075 (GRCm39) L327P probably damaging Het
Adcy7 T C 8: 89,044,685 (GRCm39) probably benign Het
Ahctf1 G A 1: 179,591,051 (GRCm39) T1243I possibly damaging Het
Akap6 C T 12: 52,927,455 (GRCm39) Q122* probably null Het
Apob G A 12: 8,044,963 (GRCm39) G861D probably damaging Het
Arhgef11 A C 3: 87,624,425 (GRCm39) T539P probably benign Het
Cd244a T A 1: 171,404,844 (GRCm39) V232E probably damaging Het
Chia1 A C 3: 106,038,199 (GRCm39) D365A probably damaging Het
Clpsl2 C T 17: 28,768,500 (GRCm39) Q5* probably null Het
Clrn1 T A 3: 58,772,531 (GRCm39) I117F probably benign Het
Csmd3 A G 15: 47,744,933 (GRCm39) L1354P probably damaging Het
Csn2 G A 5: 87,842,596 (GRCm39) P144S possibly damaging Het
Dcdc2a T A 13: 25,286,593 (GRCm39) M172K probably damaging Het
Dnah9 A T 11: 66,050,837 (GRCm39) W152R probably damaging Het
Dnmt3a T A 12: 3,922,864 (GRCm39) S82T probably benign Het
Ebf1 A G 11: 44,523,602 (GRCm39) K146E probably damaging Het
Gfpt2 A C 11: 49,718,038 (GRCm39) R504S probably damaging Het
Gpank1 T A 17: 35,343,284 (GRCm39) S255T probably damaging Het
Greb1 T C 12: 16,732,252 (GRCm39) M1570V probably damaging Het
Gtf2i A T 5: 134,292,478 (GRCm39) I403K probably damaging Het
Hoxc11 T A 15: 102,863,270 (GRCm39) C104S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ilrun T C 17: 27,986,910 (GRCm39) N272S probably damaging Het
Khdrbs2 A T 1: 32,683,238 (GRCm39) probably benign Het
Lix1l G T 3: 96,528,626 (GRCm39) G200V probably damaging Het
Lrrc23 T C 6: 124,755,114 (GRCm39) N141S probably damaging Het
Marchf11 A T 15: 26,309,748 (GRCm39) D134V probably damaging Het
Myo9a A T 9: 59,762,653 (GRCm39) T795S probably benign Het
Nhsl1 T A 10: 18,401,223 (GRCm39) D782E probably benign Het
Nptxr T C 15: 79,674,456 (GRCm39) probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or12e7 ATTGCTACTC A 2: 87,287,781 (GRCm39) probably benign Het
Or5b3 G A 19: 13,388,754 (GRCm39) A274T probably benign Het
Pard3 T C 8: 128,104,761 (GRCm39) F267S probably benign Het
Pomt2 G A 12: 87,194,254 (GRCm39) T50M possibly damaging Het
Qsox2 A G 2: 26,104,137 (GRCm39) Y298H probably damaging Het
Rabgap1 A G 2: 37,382,080 (GRCm39) K450E possibly damaging Het
Rpa1 A T 11: 75,193,558 (GRCm39) V591D probably damaging Het
Sall3 A C 18: 81,013,007 (GRCm39) M1143R probably benign Het
Scgb1b19 G T 7: 32,986,768 (GRCm39) A13S unknown Het
Scn1a T C 2: 66,168,340 (GRCm39) T89A probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sdr42e1 T G 8: 118,390,323 (GRCm39) N106T probably damaging Het
Shpk A T 11: 73,105,945 (GRCm39) M266L probably benign Het
Slc34a1 G T 13: 55,550,846 (GRCm39) R139L probably benign Het
Smbd1 C A 16: 32,627,088 (GRCm39) D67Y probably damaging Het
Srd5a3 A G 5: 76,301,485 (GRCm39) N238S probably benign Het
Tmprss2 T C 16: 97,377,462 (GRCm39) N212D probably damaging Het
Uap1 G T 1: 169,984,480 (GRCm39) probably benign Het
Ugt1a6a A G 1: 88,066,736 (GRCm39) M181V probably benign Het
Vmn2r32 C T 7: 7,477,326 (GRCm39) W355* probably null Het
Vmn2r86 T A 10: 130,282,226 (GRCm39) S797C probably damaging Het
Wiz A G 17: 32,606,616 (GRCm39) S40P probably damaging Het
Zfand6 A G 7: 84,265,181 (GRCm39) probably benign Het
Zfp280d G A 9: 72,236,449 (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
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
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'- AAAACATCCGTCTGGTGACCAGTC -3'
(R):5'- CTGTGCTTCCCTGGGAAATCTGAC -3'

Sequencing Primer
(F):5'- GGTGACCAGTCGTACCG -3'
(R):5'- gagaaagagagagagagaaagagag -3'
Posted On 2014-01-05