Incidental Mutation 'R2679:Nrp2'
ID 250685
Institutional Source Beutler Lab
Gene Symbol Nrp2
Ensembl Gene ENSMUSG00000025969
Gene Name neuropilin 2
Synonyms 1110048P06Rik, NP-2, Npn-2, NP2, Npn2
MMRRC Submission 040432-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R2679 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 62742476-62857851 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62824237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 781 (S781P)
Ref Sequence ENSEMBL: ENSMUSP00000109794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027112] [ENSMUST00000063594] [ENSMUST00000075144] [ENSMUST00000102822] [ENSMUST00000114155] [ENSMUST00000114157]
AlphaFold O35375
Predicted Effect probably benign
Transcript: ENSMUST00000027112
AA Change: S781P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000027112
Gene: ENSMUSG00000025969
AA Change: S781P

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 benign
Transcript: ENSMUST00000063594
AA Change: S781P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000069379
Gene: ENSMUSG00000025969
AA Change: S781P

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 benign
Transcript: ENSMUST00000075144
AA Change: S781P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000074642
Gene: ENSMUSG00000025969
AA Change: S781P

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 benign
Transcript: ENSMUST00000102822
AA Change: S781P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000099886
Gene: ENSMUSG00000025969
AA Change: S781P

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: S781P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000109792
Gene: ENSMUSG00000025969
AA Change: S781P

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 benign
Transcript: ENSMUST00000114157
AA Change: S781P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000109794
Gene: ENSMUSG00000025969
AA Change: S781P

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 0.0928 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 97% (67/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic2 A G 11: 81,042,780 (GRCm39) V171A probably benign Het
Atf7ip A T 6: 136,543,649 (GRCm39) I641L possibly damaging Het
Atrn G A 2: 130,803,595 (GRCm39) probably null Het
Bpifb4 T C 2: 153,790,544 (GRCm39) I145T probably damaging Het
Bub3 A G 7: 131,170,454 (GRCm39) probably null Het
Catsperb T A 12: 101,429,404 (GRCm39) D192E probably damaging Het
Ccdc178 G A 18: 21,944,613 (GRCm39) H849Y possibly damaging Het
Cd101 G T 3: 100,901,079 (GRCm39) Q998K probably benign Het
Cep135 A T 5: 76,772,507 (GRCm39) M631L probably benign Het
Cit T C 5: 116,107,174 (GRCm39) V1102A probably benign Het
Col4a4 G A 1: 82,507,332 (GRCm39) T249M unknown Het
Cpne6 A T 14: 55,753,786 (GRCm39) I415F possibly damaging Het
Cyp4b1 T C 4: 115,485,894 (GRCm39) I348V probably benign Het
Defb28 T C 2: 152,360,202 (GRCm39) S6P possibly damaging Het
Dhrs7b A G 11: 60,743,344 (GRCm39) probably benign Het
Dhx29 T C 13: 113,083,910 (GRCm39) probably null Het
Egfem1 A G 3: 29,724,825 (GRCm39) T476A probably benign Het
Enpp5 A G 17: 44,396,279 (GRCm39) D397G probably damaging Het
Eogt G A 6: 97,097,761 (GRCm39) T279I probably benign Het
Fnip2 G A 3: 79,388,233 (GRCm39) H833Y probably benign Het
Gabrr2 A T 4: 33,071,435 (GRCm39) T92S probably damaging Het
Gm10110 T A 14: 90,134,852 (GRCm39) noncoding transcript Het
Gria2 A G 3: 80,648,260 (GRCm39) probably benign Het
Hmcn1 G T 1: 150,528,326 (GRCm39) T3274N possibly damaging Het
Hnrnpul1 C T 7: 25,426,300 (GRCm39) R517Q probably damaging Het
Hspa1b T C 17: 35,176,279 (GRCm39) K569E probably benign Het
Ighv1-82 T C 12: 115,916,372 (GRCm39) Y46C probably damaging Het
Itga3 A T 11: 94,959,136 (GRCm39) probably benign Het
Lrrc7 T A 3: 157,880,745 (GRCm39) R552* probably null Het
Med13 A G 11: 86,189,403 (GRCm39) S1169P probably benign Het
Muc4 T A 16: 32,577,846 (GRCm39) D2374E unknown Het
Myl9 T A 2: 156,622,426 (GRCm39) L70Q probably damaging Het
Nebl C T 2: 17,429,402 (GRCm39) S243N probably benign Het
Nfat5 A G 8: 108,071,546 (GRCm39) Y314C probably damaging Het
Nr2f6 T A 8: 71,827,380 (GRCm39) D307V probably damaging Het
Nub1 C T 5: 24,897,923 (GRCm39) T103I possibly damaging Het
Or4b1d A T 2: 89,968,889 (GRCm39) V198D possibly damaging Het
Or51h5 T A 7: 102,577,238 (GRCm39) Y134* probably null Het
Pex5l A T 3: 33,136,201 (GRCm39) M6K probably benign Het
Pgm3 A C 9: 86,451,374 (GRCm39) C93W probably benign Het
Pkhd1 A G 1: 20,279,406 (GRCm39) S2971P probably benign Het
Pkhd1l1 T C 15: 44,408,782 (GRCm39) L2423P probably damaging Het
Prkce A G 17: 86,483,654 (GRCm39) probably benign Het
Ptbp3 A G 4: 59,494,615 (GRCm39) probably benign Het
Ptgis T A 2: 167,050,113 (GRCm39) M339L probably benign Het
Pxdn T C 12: 30,025,568 (GRCm39) probably benign Het
Rab44 T A 17: 29,363,451 (GRCm39) probably null Het
Ric1 A G 19: 29,581,430 (GRCm39) S1275G probably benign Het
Rnf213 C A 11: 119,350,764 (GRCm39) probably null Het
Rtn4rl1 A T 11: 75,156,552 (GRCm39) E328V probably benign Het
Saraf C T 8: 34,632,428 (GRCm39) T169I probably damaging Het
Sbk2 T A 7: 4,960,119 (GRCm39) probably null Het
Setd1a T G 7: 127,394,896 (GRCm39) probably benign Het
Sit1 A G 4: 43,483,157 (GRCm39) Y73H probably damaging Het
Slc44a4 T C 17: 35,142,399 (GRCm39) probably benign Het
Spopfm1 A T 3: 94,173,217 (GRCm39) Y75F probably damaging Het
Tas2r125 A G 6: 132,887,190 (GRCm39) T193A probably benign Het
Tbc1d9b T A 11: 50,052,528 (GRCm39) probably null Het
Tcf7l1 G T 6: 72,604,403 (GRCm39) H580Q probably benign Het
Tead1 T G 7: 112,456,053 (GRCm39) S115A probably damaging Het
Top2b G A 14: 16,413,947 (GRCm38) G29D probably damaging Het
Trpv4 A T 5: 114,773,613 (GRCm39) C250S probably damaging Het
U2surp A C 9: 95,358,285 (GRCm39) I655S possibly damaging Het
Ube2a G A X: 36,138,360 (GRCm39) probably benign Het
Ubl7 A G 9: 57,821,882 (GRCm39) D77G probably damaging Het
Vmn1r91 T C 7: 19,835,983 (GRCm39) C301R probably damaging Het
Vmn2r90 A T 17: 17,933,131 (GRCm39) R230S possibly damaging Het
Wdfy3 T A 5: 102,017,902 (GRCm39) E2560V probably damaging Het
Zfp273 C T 13: 67,973,895 (GRCm39) A341V probably benign Het
Zfp512 C T 5: 31,622,798 (GRCm39) A33V probably benign 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
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'- TCAGTATGTTCTTGTTACTGGACAGC -3'
(R):5'- TCACCTCCTGCACAGACTAG -3'

Sequencing Primer
(F):5'- GTTCTTGTTACTGGACAGCAATATC -3'
(R):5'- TCCTGCACAGACTAGCACAG -3'
Posted On 2014-12-04