Incidental Mutation 'R1468:Nrp2'
ID 197672
Institutional Source Beutler Lab
Gene Symbol Nrp2
Ensembl Gene ENSMUSG00000025969
Gene Name neuropilin 2
Synonyms 1110048P06Rik, NP-2, Npn-2, NP2, Npn2
MMRRC Submission 039521-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R1468 (G1)
Quality Score 198
Status Validated
Chromosome 1
Chromosomal Location 62742476-62857851 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62777458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 88 (I88F)
Ref Sequence ENSEMBL: ENSMUSP00000109794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027112] [ENSMUST00000063594] [ENSMUST00000075144] [ENSMUST00000102822] [ENSMUST00000114155] [ENSMUST00000114157]
AlphaFold O35375
Predicted Effect probably damaging
Transcript: ENSMUST00000027112
AA Change: I88F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027112
Gene: ENSMUSG00000025969
AA Change: I88F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CUB 28 142 3.4e-45 SMART
CUB 149 267 1.04e-40 SMART
FA58C 276 427 1.63e-45 SMART
FA58C 433 592 9.33e-14 SMART
MAM 641 802 2.31e-60 SMART
Pfam:DUF3481 822 906 1.4e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000063594
AA Change: I88F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069379
Gene: ENSMUSG00000025969
AA Change: I88F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CUB 28 142 3.4e-45 SMART
CUB 149 267 1.04e-40 SMART
FA58C 276 427 1.63e-45 SMART
FA58C 433 592 9.33e-14 SMART
MAM 641 802 2.31e-60 SMART
low complexity region 816 831 N/A INTRINSIC
Pfam:DUF3481 839 923 1.6e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000075144
AA Change: I88F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074642
Gene: ENSMUSG00000025969
AA Change: I88F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CUB 28 142 3.4e-45 SMART
CUB 149 267 1.04e-40 SMART
FA58C 276 427 1.63e-45 SMART
FA58C 433 592 9.33e-14 SMART
MAM 641 802 2.31e-60 SMART
Pfam:DUF3481 827 911 2.3e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102822
AA Change: I88F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099886
Gene: ENSMUSG00000025969
AA Change: I88F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CUB 28 142 3.4e-45 SMART
CUB 149 267 1.04e-40 SMART
FA58C 276 427 1.63e-45 SMART
FA58C 433 592 9.33e-14 SMART
MAM 641 802 2.31e-60 SMART
Pfam:DUF3481 822 906 2.3e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114155
AA Change: I88F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109792
Gene: ENSMUSG00000025969
AA Change: I88F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CUB 28 142 3.4e-45 SMART
CUB 149 267 1.04e-40 SMART
FA58C 276 427 1.63e-45 SMART
FA58C 433 592 9.33e-14 SMART
MAM 641 802 2.31e-60 SMART
Pfam:DUF3481 817 901 9.4e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114157
AA Change: I88F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109794
Gene: ENSMUSG00000025969
AA Change: I88F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CUB 28 142 3.4e-45 SMART
CUB 149 267 1.04e-40 SMART
FA58C 276 427 1.63e-45 SMART
FA58C 433 592 9.33e-14 SMART
MAM 641 802 2.31e-60 SMART
low complexity region 821 836 N/A INTRINSIC
Pfam:DUF3481 844 928 2.4e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126344
Meta Mutation Damage Score 0.4659 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.6%
  • 20x: 90.1%
Validation Efficiency 98% (106/108)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice may exhibit pre- or postnatal lethality, reduced fertility, hydrocephalus, aberrant sensory innervation, reduced interneuron count, seizure susceptibility and abnormal lymphangiogenesis. Homozygotes for a gene trap allele show abnormal neuronal development and axonal trajectories. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T G 7: 12,246,507 (GRCm39) M1R probably null Het
4933440N22Rik C A 6: 117,884,540 (GRCm39) probably benign Het
5031439G07Rik G T 15: 84,837,345 (GRCm39) P280T probably damaging Het
Abca2 C T 2: 25,331,308 (GRCm39) S1267L probably damaging Het
Acsl3 A T 1: 78,684,126 (GRCm39) R719S probably benign Het
Adam1a A T 5: 121,657,839 (GRCm39) probably null Het
Adamts7 T C 9: 90,070,851 (GRCm39) probably benign Het
Adgrf3 G A 5: 30,407,227 (GRCm39) probably benign Het
Aldh6a1 T C 12: 84,488,544 (GRCm39) E89G possibly damaging Het
Ankrd36 A G 11: 5,525,752 (GRCm39) Y238C probably damaging Het
Ankrd65 G A 4: 155,877,362 (GRCm39) R291Q probably benign Het
Ano2 C T 6: 125,773,227 (GRCm39) R287W probably damaging Het
Ap1ar A G 3: 127,606,215 (GRCm39) I125T probably benign Het
Arid1b A G 17: 5,293,197 (GRCm39) D705G probably damaging Het
Asb18 T A 1: 89,924,005 (GRCm39) N86I probably damaging Het
Bicral A T 17: 47,135,519 (GRCm39) S564T probably benign Het
Bpifa6 A G 2: 153,831,192 (GRCm39) M253V probably benign Het
Braf T C 6: 39,642,017 (GRCm39) D194G probably damaging Het
Brinp3 C A 1: 146,777,700 (GRCm39) P716T probably benign Het
C7 T A 15: 5,041,631 (GRCm39) Y425F probably damaging Het
Ccdc102a T C 8: 95,632,714 (GRCm39) K421R probably benign Het
Cep89 G A 7: 35,120,388 (GRCm39) probably null Het
Chgb A T 2: 132,634,720 (GRCm39) M221L probably benign Het
Chst14 A G 2: 118,758,145 (GRCm39) Y313C probably damaging Het
Ciita G A 16: 10,331,152 (GRCm39) probably null Het
Clec12b A T 6: 129,357,603 (GRCm39) I85N probably damaging Het
Clec2e G T 6: 129,070,459 (GRCm39) Y187* probably null Het
Crbn T C 6: 106,767,804 (GRCm39) K229E probably benign Het
Ctdspl2 A T 2: 121,811,762 (GRCm39) Q201L probably benign Het
Ctrb1 G T 8: 112,416,041 (GRCm39) probably benign Het
Cyp2c55 T A 19: 38,999,525 (GRCm39) V77E probably damaging Het
Cyp2c69 A C 19: 39,837,839 (GRCm39) D414E probably damaging Het
Ddx47 T C 6: 134,988,703 (GRCm39) probably benign Het
Dlg1 A G 16: 31,661,640 (GRCm39) probably null Het
Dnah5 C A 15: 28,230,609 (GRCm39) S169* probably null Het
Dock4 C A 12: 40,805,809 (GRCm39) T927K probably benign Het
Esrp2 T G 8: 106,860,453 (GRCm39) D259A probably damaging Het
Fam169a A G 13: 97,255,038 (GRCm39) K418R probably benign Het
Fancm A T 12: 65,146,067 (GRCm39) I597F probably damaging Het
Fastkd2 G T 1: 63,771,385 (GRCm39) probably benign Het
Fat1 G A 8: 45,463,582 (GRCm39) V1375M probably damaging Het
Fbxw10 A T 11: 62,753,464 (GRCm39) D486V probably damaging Het
Fech C T 18: 64,603,744 (GRCm39) probably benign Het
Fermt1 C T 2: 132,766,942 (GRCm39) E342K probably benign Het
Foxp1 T A 6: 98,955,181 (GRCm39) H195L possibly damaging Het
Gfra1 T A 19: 58,440,407 (GRCm39) I138L probably benign Het
Gm12185 T C 11: 48,806,501 (GRCm39) D230G possibly damaging Het
Gm14403 T A 2: 177,199,024 (GRCm39) probably benign Het
Gpd2 A C 2: 57,245,786 (GRCm39) T439P probably damaging Het
Gpm6a A T 8: 55,490,385 (GRCm39) K20N probably damaging Het
Hc A T 2: 34,873,819 (GRCm39) Y158* probably null Het
Hectd4 A T 5: 121,487,235 (GRCm39) D3410V possibly damaging Het
Il17b G A 18: 61,823,483 (GRCm39) probably null Het
Irx4 G T 13: 73,413,695 (GRCm39) R55L possibly damaging Het
Itgav A T 2: 83,596,245 (GRCm39) probably benign Het
Lama3 T C 18: 12,574,164 (GRCm39) V582A probably benign Het
Ldhd G T 8: 112,353,925 (GRCm39) A425E possibly damaging Het
Lrp1b C T 2: 40,817,841 (GRCm39) probably null Het
Lrp5 T C 19: 3,670,191 (GRCm39) T638A possibly damaging Het
Lrrk1 A C 7: 65,909,722 (GRCm39) F1996C probably damaging Het
Ly6h G A 15: 75,437,986 (GRCm39) S21L probably benign Het
Mctp1 T C 13: 76,973,392 (GRCm39) V431A probably benign Het
Metap2 C T 10: 93,707,345 (GRCm39) probably null Het
Mfsd2b T A 12: 4,920,536 (GRCm39) K94* probably null Het
Micall2 A G 5: 139,705,097 (GRCm39) L79P probably damaging Het
Mucl2 T C 15: 103,927,673 (GRCm39) T95A possibly damaging Het
Myo15a A T 11: 60,396,832 (GRCm39) T2634S probably damaging Het
Myo5b G T 18: 74,873,574 (GRCm39) V1467L probably damaging Het
Nfic G T 10: 81,256,414 (GRCm39) D105E probably damaging Het
Nrdc T A 4: 108,873,865 (GRCm39) F227Y probably benign Het
Nup160 A T 2: 90,530,887 (GRCm39) H515L probably benign Het
Nup205 G A 6: 35,202,917 (GRCm39) probably null Het
Oas1g G A 5: 121,020,069 (GRCm39) T179I probably benign Het
Ogfr A T 2: 180,236,543 (GRCm39) E376V probably damaging Het
Or2l13 T G 16: 19,306,378 (GRCm39) S263R probably benign Het
Or4a69 A T 2: 89,312,855 (GRCm39) V208D possibly damaging Het
Or4c107 T G 2: 88,789,387 (GRCm39) Y192* probably null Het
Or52d1 G T 7: 103,755,896 (GRCm39) V137F possibly damaging Het
Or5p6 C T 7: 107,631,595 (GRCm39) probably null Het
Pard3b T C 1: 62,384,188 (GRCm39) V851A probably benign Het
Pcdhb16 A T 18: 37,611,142 (GRCm39) Y34F probably damaging Het
Pikfyve T C 1: 65,290,825 (GRCm39) Y1215H probably damaging Het
Pkhd1 A T 1: 20,593,565 (GRCm39) V1516E probably damaging Het
Pla2g4a A T 1: 149,763,344 (GRCm39) probably benign Het
Ptprg A T 14: 12,190,767 (GRCm38) I818F probably benign Het
Ralgapb A G 2: 158,304,173 (GRCm39) E644G possibly damaging Het
Rbm45 A G 2: 76,202,459 (GRCm39) I127M probably damaging Het
Rtp2 T C 16: 23,746,220 (GRCm39) Y157C probably damaging Het
Sema3f A T 9: 107,564,771 (GRCm39) probably benign Het
Sf3b3 A T 8: 111,564,006 (GRCm39) Y329N probably damaging Het
Sfxn1 A G 13: 54,239,646 (GRCm39) probably null Het
Shkbp1 A T 7: 27,044,751 (GRCm39) C447S probably damaging Het
Sipa1l3 A G 7: 29,021,685 (GRCm39) S689P possibly damaging Het
Slc7a8 A G 14: 54,970,656 (GRCm39) S332P probably damaging Het
Slit1 C A 19: 41,596,823 (GRCm39) C1092F probably damaging Het
Slx9 A G 10: 77,333,360 (GRCm39) probably benign Het
Stard9 A G 2: 120,533,678 (GRCm39) I619V possibly damaging Het
Sycp3 T C 10: 88,305,454 (GRCm39) V185A possibly damaging Het
Taar9 A T 10: 23,985,382 (GRCm39) N17K possibly damaging Het
Tbkbp1 T C 11: 97,039,814 (GRCm39) E102G probably damaging Het
Tex44 A G 1: 86,354,834 (GRCm39) N248D probably benign Het
Tmem63b C G 17: 45,989,904 (GRCm39) R88P possibly damaging Het
Tnpo1 C T 13: 98,986,665 (GRCm39) V781I probably benign Het
Tonsl C T 15: 76,520,761 (GRCm39) probably null Het
Ttc6 A G 12: 57,721,463 (GRCm39) K984R possibly damaging Het
Usp34 A G 11: 23,391,171 (GRCm39) E2263G probably damaging Het
Usp8 A G 2: 126,596,847 (GRCm39) K875E probably damaging Het
Vapb C T 2: 173,603,905 (GRCm39) probably benign Het
Vmn1r223 A G 13: 23,434,038 (GRCm39) I211V possibly damaging Het
Vmn2r81 G A 10: 79,129,496 (GRCm39) V796I probably damaging Het
Wdr90 A T 17: 26,073,027 (GRCm39) V856D probably damaging Het
Wnk2 T A 13: 49,235,571 (GRCm39) T615S probably damaging Het
Other mutations in Nrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Nrp2 APN 1 62,743,410 (GRCm39) nonsense probably null
IGL01912:Nrp2 APN 1 62,810,896 (GRCm39) missense probably damaging 1.00
IGL01996:Nrp2 APN 1 62,788,419 (GRCm39) missense probably damaging 1.00
IGL02184:Nrp2 APN 1 62,758,099 (GRCm39) nonsense probably null
IGL02682:Nrp2 APN 1 62,810,996 (GRCm39) missense probably benign 0.03
IGL02928:Nrp2 APN 1 62,854,605 (GRCm39) missense probably damaging 1.00
IGL03024:Nrp2 APN 1 62,810,893 (GRCm39) missense probably damaging 1.00
Euphorbia UTSW 1 62,801,972 (GRCm39) missense probably benign 0.02
Sabra UTSW 1 62,822,680 (GRCm39) missense probably damaging 1.00
R0068:Nrp2 UTSW 1 62,784,536 (GRCm39) missense possibly damaging 0.95
R0068:Nrp2 UTSW 1 62,784,536 (GRCm39) missense possibly damaging 0.95
R0683:Nrp2 UTSW 1 62,783,477 (GRCm39) missense probably benign 0.41
R0789:Nrp2 UTSW 1 62,784,609 (GRCm39) missense probably benign 0.44
R1418:Nrp2 UTSW 1 62,822,491 (GRCm39) nonsense probably null
R1468:Nrp2 UTSW 1 62,777,458 (GRCm39) missense probably damaging 1.00
R1544:Nrp2 UTSW 1 62,802,063 (GRCm39) missense probably damaging 1.00
R1645:Nrp2 UTSW 1 62,824,283 (GRCm39) missense probably damaging 0.97
R1677:Nrp2 UTSW 1 62,822,479 (GRCm39) missense probably benign 0.18
R1752:Nrp2 UTSW 1 62,777,600 (GRCm39) missense probably damaging 1.00
R1840:Nrp2 UTSW 1 62,777,498 (GRCm39) missense probably damaging 1.00
R1916:Nrp2 UTSW 1 62,801,906 (GRCm39) missense probably damaging 1.00
R1962:Nrp2 UTSW 1 62,758,090 (GRCm39) missense probably benign 0.03
R2108:Nrp2 UTSW 1 62,783,436 (GRCm39) missense probably damaging 1.00
R2164:Nrp2 UTSW 1 62,783,514 (GRCm39) missense probably damaging 1.00
R2216:Nrp2 UTSW 1 62,802,077 (GRCm39) nonsense probably null
R2679:Nrp2 UTSW 1 62,824,237 (GRCm39) missense probably benign 0.00
R4349:Nrp2 UTSW 1 62,777,576 (GRCm39) missense probably damaging 1.00
R4351:Nrp2 UTSW 1 62,777,576 (GRCm39) missense probably damaging 1.00
R4352:Nrp2 UTSW 1 62,777,576 (GRCm39) missense probably damaging 1.00
R4353:Nrp2 UTSW 1 62,777,576 (GRCm39) missense probably damaging 1.00
R4811:Nrp2 UTSW 1 62,758,240 (GRCm39) missense probably damaging 1.00
R5362:Nrp2 UTSW 1 62,808,221 (GRCm39) missense probably benign 0.01
R5387:Nrp2 UTSW 1 62,801,972 (GRCm39) missense probably benign 0.02
R5461:Nrp2 UTSW 1 62,786,370 (GRCm39) nonsense probably null
R5704:Nrp2 UTSW 1 62,824,267 (GRCm39) missense probably benign 0.00
R6143:Nrp2 UTSW 1 62,799,974 (GRCm39) missense probably damaging 1.00
R6303:Nrp2 UTSW 1 62,784,565 (GRCm39) missense probably damaging 1.00
R6304:Nrp2 UTSW 1 62,784,565 (GRCm39) missense probably damaging 1.00
R6376:Nrp2 UTSW 1 62,758,176 (GRCm39) missense possibly damaging 0.65
R6945:Nrp2 UTSW 1 62,799,947 (GRCm39) missense probably damaging 1.00
R7347:Nrp2 UTSW 1 62,784,663 (GRCm39) missense probably benign 0.04
R7393:Nrp2 UTSW 1 62,784,583 (GRCm39) missense probably damaging 0.98
R7593:Nrp2 UTSW 1 62,758,203 (GRCm39) missense probably damaging 0.96
R7881:Nrp2 UTSW 1 62,810,990 (GRCm39) missense probably benign 0.42
R7882:Nrp2 UTSW 1 62,822,680 (GRCm39) missense probably damaging 1.00
R7948:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R7958:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R7959:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R7960:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R7961:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8009:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8012:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8014:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8015:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8068:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8069:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8070:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8071:Nrp2 UTSW 1 62,784,567 (GRCm39) missense probably damaging 1.00
R8206:Nrp2 UTSW 1 62,786,374 (GRCm39) missense probably damaging 1.00
R8791:Nrp2 UTSW 1 62,788,356 (GRCm39) missense probably damaging 1.00
R9090:Nrp2 UTSW 1 62,784,670 (GRCm39) missense probably benign 0.21
R9271:Nrp2 UTSW 1 62,784,670 (GRCm39) missense probably benign 0.21
R9287:Nrp2 UTSW 1 62,835,014 (GRCm39) missense probably damaging 1.00
R9469:Nrp2 UTSW 1 62,804,030 (GRCm39) missense probably damaging 1.00
R9646:Nrp2 UTSW 1 62,777,566 (GRCm39) missense probably damaging 1.00
R9752:Nrp2 UTSW 1 62,851,726 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTCGCTTTGAGACCCTGATGGAATG -3'
(R):5'- ATAGCGTAGAGAGAAACCTGCCCC -3'

Sequencing Primer
(F):5'- CTTGAACAAAGCAACTTCCTGTG -3'
(R):5'- GAAACCTGCCCCCTGCC -3'
Posted On 2014-05-23