Incidental Mutation 'R1786:Nrp1'
ID 202820
Institutional Source Beutler Lab
Gene Symbol Nrp1
Ensembl Gene ENSMUSG00000025810
Gene Name neuropilin 1
Synonyms NP-1, Neuropilin-1, Npn1, NPN-1
MMRRC Submission 039817-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1786 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 129085085-129229844 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129224997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 782 (E782D)
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: E782D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: E782D

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 0.6467 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (98/101)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,553,223 (GRCm39) N178I probably damaging Het
Abcc4 G A 14: 118,790,761 (GRCm39) R749C probably damaging Het
Acot11 T C 4: 106,619,232 (GRCm39) E201G probably damaging Het
Akap13 G T 7: 75,261,182 (GRCm39) A1269S probably benign Het
Aldh4a1 T C 4: 139,371,439 (GRCm39) V451A probably benign Het
Aopep T A 13: 63,357,963 (GRCm39) C656S probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Asb6 G A 2: 30,717,088 (GRCm39) R46W probably damaging Het
Bpifb6 T C 2: 153,748,781 (GRCm39) F259S probably damaging Het
Cad T A 5: 31,215,416 (GRCm39) F76I probably damaging Het
Camk2b T C 11: 5,927,880 (GRCm39) E390G probably benign Het
Cars1 C A 7: 143,146,211 (GRCm39) R71M probably damaging Het
Ccdc170 T G 10: 4,469,043 (GRCm39) I197S probably benign Het
Ccn4 G A 15: 66,778,338 (GRCm39) C53Y probably damaging Het
Cdc20b A T 13: 113,217,668 (GRCm39) K362N probably damaging Het
Cntrl CAGAG CAG 2: 35,012,818 (GRCm39) probably null Het
Cpd T C 11: 76,683,624 (GRCm39) D1045G probably benign Het
Crocc T C 4: 140,749,113 (GRCm39) D1564G probably damaging Het
Csf1r A T 18: 61,262,149 (GRCm39) M802L probably damaging Het
Dctn4 T C 18: 60,679,407 (GRCm39) probably null Het
Dnah5 A G 15: 28,313,932 (GRCm39) Q1916R probably damaging Het
Dpysl2 A G 14: 67,100,114 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,081,084 (GRCm39) Y2871H probably damaging Het
Fam221b T A 4: 43,665,537 (GRCm39) H307L probably damaging Het
Foxn4 C T 5: 114,401,193 (GRCm39) D37N probably damaging Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gm9797 T C 10: 11,485,069 (GRCm39) noncoding transcript Het
Golim4 A T 3: 75,815,456 (GRCm39) V116D probably damaging Het
Gper1 C T 5: 139,412,477 (GRCm39) P274L probably damaging Het
Gpr132 A G 12: 112,816,023 (GRCm39) S268P probably damaging Het
Gtpbp2 T C 17: 46,472,128 (GRCm39) M21T probably benign Het
Hivep1 C T 13: 42,337,262 (GRCm39) A2447V possibly damaging Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Insrr G A 3: 87,717,879 (GRCm39) probably null Het
Kcnh8 T C 17: 53,200,961 (GRCm39) V465A probably damaging Het
Kif5c T A 2: 49,648,817 (GRCm39) probably benign Het
Kmt2a G A 9: 44,730,972 (GRCm39) probably benign Het
Lhx6 G T 2: 35,977,470 (GRCm39) C327* probably null Het
Lifr A G 15: 7,211,337 (GRCm39) D625G possibly damaging Het
Llgl1 T C 11: 60,598,066 (GRCm39) V370A probably benign Het
Lman1 A T 18: 66,124,653 (GRCm39) M362K probably damaging Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Lpin3 T A 2: 160,738,729 (GRCm39) L227* probably null Het
Ltv1 C G 10: 13,058,280 (GRCm39) probably benign Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Mettl17 A T 14: 52,126,192 (GRCm39) probably benign Het
Mnx1 T A 5: 29,679,187 (GRCm39) S299C unknown Het
Mov10 A T 3: 104,725,432 (GRCm39) I59N possibly damaging Het
Myo7b T C 18: 32,127,950 (GRCm39) I581V probably benign Het
Ncdn T A 4: 126,639,066 (GRCm39) probably null Het
Ndufa4 A T 6: 11,900,574 (GRCm39) V37E probably benign Het
Nhsl1 T G 10: 18,400,412 (GRCm39) L546R probably benign Het
Nop9 T C 14: 55,988,599 (GRCm39) L347P probably damaging Het
Ntrk3 G A 7: 78,127,683 (GRCm39) probably benign Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2z8 A G 8: 72,812,280 (GRCm39) Y252C probably damaging Het
Or8g53 A T 9: 39,683,791 (GRCm39) C102S probably benign Het
Osbpl6 T A 2: 76,416,558 (GRCm39) I546K probably damaging Het
Pard6g T C 18: 80,160,523 (GRCm39) V212A probably damaging Het
Pknox2 A G 9: 36,820,980 (GRCm39) V294A probably damaging Het
Plekha1 T C 7: 130,493,983 (GRCm39) V106A probably benign Het
Plekha6 C A 1: 133,207,103 (GRCm39) probably null Het
Ptgdr A T 14: 45,096,036 (GRCm39) Y225* probably null Het
Ptpn22 A G 3: 103,781,368 (GRCm39) I90V probably damaging Het
Pygb C T 2: 150,658,692 (GRCm39) T372I probably damaging Het
Pzp T C 6: 128,468,124 (GRCm39) probably null Het
Qrich2 C T 11: 116,332,275 (GRCm39) G2307D probably damaging Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Senp1 T A 15: 97,973,848 (GRCm39) T132S probably benign Het
Slc9a4 T G 1: 40,646,901 (GRCm39) probably null Het
Slfn9 T A 11: 82,872,133 (GRCm39) I868F probably damaging Het
St3gal6 T C 16: 58,296,234 (GRCm39) D137G probably damaging Het
Synj1 G T 16: 90,761,405 (GRCm39) A687D probably damaging Het
Syt4 A G 18: 31,576,496 (GRCm39) probably benign Het
Tacc1 A T 8: 25,654,509 (GRCm39) N271K probably damaging Het
Tdrd6 T C 17: 43,935,724 (GRCm39) T1775A probably benign Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Tjp3 T A 10: 81,113,888 (GRCm39) M457L possibly damaging Het
Tmem200a T A 10: 25,869,825 (GRCm39) H148L probably damaging Het
Trappc8 A G 18: 20,967,997 (GRCm39) probably null Het
Txk T A 5: 72,853,922 (GRCm39) T472S probably damaging Het
Ubr4 T A 4: 139,151,256 (GRCm39) M1897K probably damaging Het
Uggt2 A G 14: 119,298,788 (GRCm39) L391P probably damaging Het
Uncx T C 5: 139,533,302 (GRCm39) S456P probably benign Het
Vps13b A G 15: 35,879,937 (GRCm39) Y3004C probably damaging Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Zbtb46 C T 2: 181,033,224 (GRCm39) C479Y probably damaging Het
Zc3h7a A T 16: 10,968,469 (GRCm39) Y503* probably null Het
Zdhhc13 T A 7: 48,474,392 (GRCm39) L548Q possibly damaging Het
Zfp236 T C 18: 82,639,429 (GRCm39) M1225V probably benign Het
Zfp280d T C 9: 72,215,287 (GRCm39) F133L probably damaging Het
Zfp503 A T 14: 22,035,588 (GRCm39) C443S possibly damaging Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly 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
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
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'- TGCATGTTTGAATCATCTCTACCAC -3'
(R):5'- ATGAACTGACCTACATTTATCCCC -3'

Sequencing Primer
(F):5'- CACTTCAACTGAGAGAGTG -3'
(R):5'- TTGAATTCTGGGCTAAATGACAAGGC -3'
Posted On 2014-06-23