Incidental Mutation 'R6143:Nrp2'
ID 488652
Institutional Source Beutler Lab
Gene Symbol Nrp2
Ensembl Gene ENSMUSG00000025969
Gene Name neuropilin 2
Synonyms 1110048P06Rik, NP-2, Npn-2, NP2, Npn2
MMRRC Submission 044290-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R6143 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 62742476-62857851 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62799974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 396 (N396I)
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: N396I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027112
Gene: ENSMUSG00000025969
AA Change: N396I

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: N396I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069379
Gene: ENSMUSG00000025969
AA Change: N396I

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: N396I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074642
Gene: ENSMUSG00000025969
AA Change: N396I

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: N396I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099886
Gene: ENSMUSG00000025969
AA Change: N396I

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: N396I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109792
Gene: ENSMUSG00000025969
AA Change: N396I

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: N396I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109794
Gene: ENSMUSG00000025969
AA Change: N396I

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
Meta Mutation Damage Score 0.8952 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A G 14: 55,797,736 (GRCm39) probably benign Het
Abcd2 A T 15: 91,075,150 (GRCm39) V221E possibly damaging Het
Arhgap39 T A 15: 76,614,606 (GRCm39) K853* probably null Het
Art2a T C 7: 101,204,430 (GRCm39) D36G possibly damaging Het
Atp13a1 C T 8: 70,258,010 (GRCm39) P922S probably benign Het
Brwd1 C T 16: 95,804,156 (GRCm39) G2005R probably benign Het
Bzw2 A T 12: 36,170,725 (GRCm39) M133K probably benign Het
Cacna1s T G 1: 136,004,496 (GRCm39) S346A probably damaging Het
Cebpb C A 2: 167,531,220 (GRCm39) D93E probably benign Het
Cep162 C A 9: 87,094,904 (GRCm39) probably null Het
Col9a2 A T 4: 120,911,060 (GRCm39) Y565F probably damaging Het
Csgalnact1 T A 8: 68,826,202 (GRCm39) N372I probably damaging Het
Csmd1 T C 8: 16,138,315 (GRCm39) D1579G probably damaging Het
Cyfip2 A C 11: 46,144,792 (GRCm39) Y687* probably null Het
Cyp2d34 G A 15: 82,504,977 (GRCm39) R28W probably benign Het
Dbndd2 C A 2: 164,330,206 (GRCm39) Q13K probably damaging Het
Dnah5 T A 15: 28,233,377 (GRCm39) S245R probably benign Het
Dnajb5 A T 4: 42,956,990 (GRCm39) T226S probably damaging Het
Dnmt1 T C 9: 20,838,430 (GRCm39) E211G probably benign Het
Dnpep G A 1: 75,291,872 (GRCm39) H214Y probably damaging Het
Drc3 G A 11: 60,261,406 (GRCm39) V186M possibly damaging Het
Dvl3 A G 16: 20,345,789 (GRCm39) D413G possibly damaging Het
Dyrk4 C T 6: 126,863,614 (GRCm39) probably null Het
Edc4 T A 8: 106,612,506 (GRCm39) D181E probably damaging Het
Enthd1 T C 15: 80,393,487 (GRCm39) Y247C possibly damaging Het
Gm5622 A T 14: 51,892,372 (GRCm39) R50S possibly damaging Het
Gpbp1 G A 13: 111,603,389 (GRCm39) T20I probably damaging Het
Hnrnpdl A T 5: 100,184,410 (GRCm39) Y276* probably null Het
Hsd3b7 A C 7: 127,400,404 (GRCm39) E51A probably damaging Het
Ighv5-16 G T 12: 113,802,238 (GRCm39) F87L probably damaging Het
Iqsec1 C T 6: 90,786,666 (GRCm39) probably null Het
Irgm2 A T 11: 58,111,435 (GRCm39) E387D possibly damaging Het
Klhl23 C A 2: 69,664,040 (GRCm39) P463Q possibly damaging Het
Mast4 A T 13: 102,990,391 (GRCm39) N43K probably damaging Het
Mme T G 3: 63,207,532 (GRCm39) probably null Het
Mrps31 T G 8: 22,901,539 (GRCm39) S20A probably benign Het
Myo5c A G 9: 75,157,091 (GRCm39) R176G probably damaging Het
Naf1 T C 8: 67,330,347 (GRCm39) V291A possibly damaging Het
Nbeal1 A T 1: 60,290,466 (GRCm39) H1021L possibly damaging Het
Ncaph2 T C 15: 89,248,206 (GRCm39) probably null Het
Neurod4 T G 10: 130,106,869 (GRCm39) Y135S probably damaging Het
Nvl T G 1: 180,962,560 (GRCm39) T137P probably benign Het
Or5p59 A G 7: 107,703,335 (GRCm39) D273G probably damaging Het
Papola T C 12: 105,793,219 (GRCm39) V513A probably benign Het
Pcdhgc4 T A 18: 37,950,653 (GRCm39) S690T possibly damaging Het
Pck1 A T 2: 172,995,805 (GRCm39) D101V probably damaging Het
Pdilt T A 7: 119,094,265 (GRCm39) N329Y probably damaging Het
Pfkl T A 10: 77,825,447 (GRCm39) R648W probably damaging Het
Prtn3 T A 10: 79,716,382 (GRCm39) I63N probably damaging Het
Psg22 C T 7: 18,456,723 (GRCm39) A163V probably benign Het
Pten A G 19: 32,777,485 (GRCm39) T160A possibly damaging Het
Retreg2 A G 1: 75,123,530 (GRCm39) D449G probably damaging Het
Scn9a T C 2: 66,317,868 (GRCm39) Y1531C probably benign Het
Sgk2 T A 2: 162,841,174 (GRCm39) C195S probably damaging Het
Slc19a3 C T 1: 83,004,060 (GRCm39) V14I probably benign Het
Snai2 A T 16: 14,526,107 (GRCm39) R253* probably null Het
Speg G A 1: 75,391,031 (GRCm39) V1512I probably damaging Het
Srsf1 G A 11: 87,940,425 (GRCm39) probably benign Het
Tctn3 G T 19: 40,597,671 (GRCm39) T190N probably benign Het
Tmprss11f T A 5: 86,687,558 (GRCm39) I117L probably benign Het
Ttn G A 2: 76,682,413 (GRCm39) R959* probably null Het
Vmn2r118 G T 17: 55,899,871 (GRCm39) L678I possibly damaging Het
Vps13b T C 15: 35,668,884 (GRCm39) S1594P probably damaging Het
Vps13d G T 4: 144,875,135 (GRCm39) H1791N possibly 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
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
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'- TCCACAGTGATTCTAAAACGCC -3'
(R):5'- TTGAGCCTTTGAGCCACTC -3'

Sequencing Primer
(F):5'- GTGATTCTAAAACGCCCAACACAG -3'
(R):5'- CTTTTGGAAAGGTCACATAAGCAC -3'
Posted On 2017-10-10