Incidental Mutation 'R7960:Nrp2'
ID 650021
Institutional Source Beutler Lab
Gene Symbol Nrp2
Ensembl Gene ENSMUSG00000025969
Gene Name neuropilin 2
Synonyms 1110048P06Rik, NP-2, Npn-2, NP2, Npn2
MMRRC Submission 046004-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R7960 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 62742476-62857851 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 62784567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 239 (R239C)
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: R239C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027112
Gene: ENSMUSG00000025969
AA Change: R239C

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: R239C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069379
Gene: ENSMUSG00000025969
AA Change: R239C

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: R239C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074642
Gene: ENSMUSG00000025969
AA Change: R239C

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: R239C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099886
Gene: ENSMUSG00000025969
AA Change: R239C

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 benign
Transcript: ENSMUST00000114155
AA Change: R239C

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109792
Gene: ENSMUSG00000025969
AA Change: R239C

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: R239C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109794
Gene: ENSMUSG00000025969
AA Change: R239C

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 0.3354 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (71/72)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik T C 7: 115,702,481 (GRCm39) S82P possibly damaging Het
Ablim2 A C 5: 36,014,493 (GRCm39) E450A probably benign Het
Acacb G T 5: 114,368,922 (GRCm39) M1713I probably benign Het
Acbd6 C A 1: 155,562,766 (GRCm39) Q256K probably benign Het
Agbl2 A T 2: 90,621,975 (GRCm39) N154I probably benign Het
Ahcyl2 A G 6: 29,870,626 (GRCm39) N181D probably benign Het
Aldh18a1 A T 19: 40,546,264 (GRCm39) D544E probably benign Het
Anapc1 A T 2: 128,516,513 (GRCm39) L407Q probably damaging Het
Arhgap26 T A 18: 39,362,980 (GRCm39) V34D Het
Brd3 A T 2: 27,342,945 (GRCm39) S516T probably benign Het
Bsn A G 9: 107,992,747 (GRCm39) S1002P probably damaging Het
C4b G T 17: 34,960,252 (GRCm39) probably null Het
Camta1 T C 4: 151,232,990 (GRCm39) T228A probably benign Het
Cct6b T C 11: 82,632,221 (GRCm39) K256E possibly damaging Het
Cep85l T A 10: 53,172,403 (GRCm39) Q552L probably benign Het
Col6a5 A G 9: 105,823,049 (GRCm39) F103L unknown Het
Copb2 A G 9: 98,462,407 (GRCm39) Q464R possibly damaging Het
Dlc1 G T 8: 37,404,989 (GRCm39) H267N probably benign Het
Dnajb2 T C 1: 75,218,055 (GRCm39) I184T Het
Dnajc9 C T 14: 20,438,764 (GRCm39) E30K possibly damaging Het
Dock1 T C 7: 134,678,917 (GRCm39) L1012P possibly damaging Het
Dtnbp1 T C 13: 45,106,650 (GRCm39) K170R probably benign Het
F13b T A 1: 139,431,509 (GRCm39) C26* probably null Het
Ficd G T 5: 113,877,020 (GRCm39) E398D probably benign Het
G6pc1 G A 11: 101,267,359 (GRCm39) G270R probably damaging Het
Garin4 T A 1: 190,895,645 (GRCm39) T333S probably benign Het
Gm3604 T C 13: 62,517,587 (GRCm39) Y257C probably damaging Het
Hmcn1 T A 1: 150,531,606 (GRCm39) Y3221F probably damaging Het
Hs3st3b1 C T 11: 63,812,694 (GRCm39) G7D possibly damaging Het
Htr3b A T 9: 48,856,852 (GRCm39) S209T probably benign Het
Ift70a1 A T 2: 75,811,188 (GRCm39) D298E probably benign Het
Iglon5 T A 7: 43,126,326 (GRCm39) E192D probably benign Het
Inpp5f A G 7: 128,295,638 (GRCm39) probably null Het
Kif26b T A 1: 178,506,484 (GRCm39) C187S probably damaging Het
Klhl11 A G 11: 100,354,805 (GRCm39) S339P probably benign Het
Klk14 G A 7: 43,341,467 (GRCm39) A40T probably damaging Het
Kmt2c G A 5: 25,520,194 (GRCm39) T1972I probably benign Het
Lama2 T C 10: 26,869,094 (GRCm39) T2784A probably benign Het
Loxhd1 T A 18: 77,472,746 (GRCm39) F1088I probably damaging Het
Map2k2 G A 10: 80,954,968 (GRCm39) R185Q probably benign Het
Mbd5 G A 2: 49,169,796 (GRCm39) probably null Het
Mdc1 A T 17: 36,161,570 (GRCm39) R828* probably null Het
Or5g25 A G 2: 85,478,417 (GRCm39) S83P possibly damaging Het
Parp4 C A 14: 56,832,708 (GRCm39) probably null Het
Pbk T A 14: 66,046,650 (GRCm39) probably null Het
Phip A T 9: 82,775,401 (GRCm39) D1060E probably benign Het
Pik3c2b T A 1: 133,031,587 (GRCm39) L1509Q probably damaging Het
Pik3r5 T A 11: 68,386,796 (GRCm39) F808L probably benign Het
Plcl1 T A 1: 55,736,443 (GRCm39) S595T possibly damaging Het
Plxna2 AT A 1: 194,476,172 (GRCm39) probably null Het
Pole A G 5: 110,437,727 (GRCm39) K95R possibly damaging Het
Poteg A G 8: 27,946,888 (GRCm39) T259A probably benign Het
Pramel52-ps A G 5: 94,531,739 (GRCm39) M208V probably benign Het
Ptpn12 G T 5: 21,260,687 (GRCm39) P20Q probably benign Het
Ptpn5 T A 7: 46,729,295 (GRCm39) T440S possibly damaging Het
Ptpru T C 4: 131,515,820 (GRCm39) R845G probably benign Het
Rasgrp2 G T 19: 6,464,839 (GRCm39) V596L probably benign Het
Rcbtb2 T G 14: 73,399,384 (GRCm39) V16G probably benign Het
Rel T C 11: 23,694,493 (GRCm39) N289S probably damaging Het
Rpn1 T A 6: 88,079,068 (GRCm39) Y504N probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Scaf8 G A 17: 3,221,397 (GRCm39) V295M unknown Het
Skic3 T C 13: 76,260,318 (GRCm39) C87R probably benign Het
Slc25a48 T A 13: 56,611,411 (GRCm39) Y173N probably damaging Het
Slc8a3 C T 12: 81,263,506 (GRCm39) S627N probably benign Het
Snx8 T A 5: 140,343,848 (GRCm39) M123L probably benign Het
Sri A T 5: 8,114,586 (GRCm39) Q180H probably benign Het
Sycp2 T A 2: 178,046,453 (GRCm39) R4S probably null Het
Tcstv1a G A 13: 120,355,521 (GRCm39) T37I possibly damaging Het
Tnnc2 A T 2: 164,619,704 (GRCm39) D87E probably benign Het
Trim7 A T 11: 48,728,628 (GRCm39) N92I probably damaging Het
Trpv6 C T 6: 41,604,612 (GRCm39) D97N probably benign Het
Ulk4 A G 9: 121,102,022 (GRCm39) Y19H probably damaging Het
Vmn2r69 C T 7: 85,055,973 (GRCm39) V722I probably benign Het
Zan T C 5: 137,407,865 (GRCm39) D3643G unknown Het
Zan G A 5: 137,463,154 (GRCm39) T675I unknown 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
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
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'- AGCTCAGGGAAAGCACTTTTAATG -3'
(R):5'- GTCAGCCCTTTACCTGTACG -3'

Sequencing Primer
(F):5'- TCAGGGGGAATATCAGACATCATTC -3'
(R):5'- GTACGTACACCTGTCCCTAATGAG -3'
Posted On 2020-09-15