Incidental Mutation 'R5387:Nrp2'
ID 425304
Institutional Source Beutler Lab
Gene Symbol Nrp2
Ensembl Gene ENSMUSG00000025969
Gene Name neuropilin 2
Synonyms Npn2, NP-2, NP2, Npn-2, 1110048P06Rik
MMRRC Submission 042959-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5387 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 62703285-62818695 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62762813 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 472 (S472P)
Ref Sequence ENSEMBL: ENSMUSP00000099886 (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: S472P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000027112
Gene: ENSMUSG00000025969
AA Change: S472P

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: S472P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000069379
Gene: ENSMUSG00000025969
AA Change: S472P

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: S472P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000074642
Gene: ENSMUSG00000025969
AA Change: S472P

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: S472P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099886
Gene: ENSMUSG00000025969
AA Change: S472P

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: S472P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109792
Gene: ENSMUSG00000025969
AA Change: S472P

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: S472P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109794
Gene: ENSMUSG00000025969
AA Change: S472P

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 0.2709 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,259,973 (GRCm38) S140T probably benign Het
Ahnak T C 19: 9,003,691 (GRCm38) S780P probably damaging Het
Ankhd1 C A 18: 36,634,644 (GRCm38) H1205N probably damaging Het
Ano1 T C 7: 144,648,619 (GRCm38) K139R probably benign Het
Anp32b T G 4: 46,468,573 (GRCm38) C114W probably damaging Het
Ascl1 C T 10: 87,492,689 (GRCm38) A134T probably damaging Het
Atl2 C T 17: 79,852,800 (GRCm38) E453K probably benign Het
Aup1 C T 6: 83,055,024 (GRCm38) A84V probably damaging Het
Btbd7 A T 12: 102,837,785 (GRCm38) M332K probably damaging Het
Cacna1d A G 14: 30,100,751 (GRCm38) V1107A probably damaging Het
Cd33 G A 7: 43,532,053 (GRCm38) Q114* probably null Het
Cdhr18 C A 14: 13,914,438 (GRCm38) M1I probably null Het
Col4a4 C T 1: 82,493,591 (GRCm38) G681E unknown Het
Defb22 C A 2: 152,485,906 (GRCm38) A120S unknown Het
Dnah7b A G 1: 46,188,659 (GRCm38) I1347M probably damaging Het
Efcab5 A G 11: 77,134,842 (GRCm38) I549T possibly damaging Het
Esp15 T A 17: 39,644,577 (GRCm38) probably null Het
Fbxo7 A G 10: 86,024,654 (GRCm38) T42A probably benign Het
Filip1 A G 9: 79,818,274 (GRCm38) I1021T probably benign Het
Gad1 C A 2: 70,563,851 (GRCm38) S7* probably null Het
H2ac7 T A 13: 23,574,667 (GRCm38) probably null Het
H2-Q7 C T 17: 35,439,542 (GRCm38) T52M probably damaging Het
H2-T3 C T 17: 36,186,702 (GRCm38) G28R probably benign Het
Idh2 TCCCAGG T 7: 80,098,331 (GRCm38) probably benign Het
Ift81 A G 5: 122,555,535 (GRCm38) Y604H probably damaging Het
Igsf11 A G 16: 39,022,423 (GRCm38) Y154C probably damaging Het
Kif26b G T 1: 178,914,876 (GRCm38) A846S probably benign Het
Lnx2 G A 5: 147,028,154 (GRCm38) P420S probably benign Het
Lrit2 A G 14: 37,072,259 (GRCm38) T427A probably damaging Het
Lrrc43 G T 5: 123,499,671 (GRCm38) probably null Het
Mettl25b A T 3: 87,930,011 (GRCm38) probably benign Het
Mug1 T C 6: 121,884,394 (GRCm38) Y1325H probably damaging Het
Naglu A T 11: 101,076,724 (GRCm38) Y500F probably damaging Het
Npy4r A G 14: 34,146,983 (GRCm38) M116T probably benign Het
Nrdc A G 4: 109,039,762 (GRCm38) Y526C probably damaging Het
Or12d2 T A 17: 37,314,292 (GRCm38) T31S probably benign Het
Or12k8 T C 2: 37,085,719 (GRCm38) T10A possibly damaging Het
Otogl T A 10: 107,780,933 (GRCm38) T1828S probably benign Het
Pank2 C T 2: 131,274,262 (GRCm38) T200I probably benign Het
Pbrm1 A G 14: 31,082,610 (GRCm38) Y946C probably damaging Het
Pde12 A T 14: 26,666,453 (GRCm38) S437T probably benign Het
Pikfyve A G 1: 65,265,268 (GRCm38) K1710E possibly damaging Het
Plcd3 A G 11: 103,078,455 (GRCm38) S229P probably damaging Het
Polr3a T C 14: 24,454,941 (GRCm38) I1084V possibly damaging Het
Prkaa2 C A 4: 105,040,177 (GRCm38) D280Y probably damaging Het
Ptprg T A 14: 12,153,873 (GRCm38) S531R probably damaging Het
R3hdm2 T C 10: 127,485,434 (GRCm38) S620P probably damaging Het
Rab33b A G 3: 51,493,455 (GRCm38) T117A probably damaging Het
Rasal2 T C 1: 157,157,765 (GRCm38) D804G possibly damaging Het
Rbp3 A G 14: 33,956,413 (GRCm38) T773A possibly damaging Het
Rspry1 A G 8: 94,638,286 (GRCm38) T185A possibly damaging Het
Sec61a2 G T 2: 5,882,545 (GRCm38) probably benign Het
Setx C T 2: 29,147,594 (GRCm38) R1364C probably benign Het
Shtn1 G T 19: 59,038,369 (GRCm38) L97M probably damaging Het
Slc35f1 T C 10: 53,108,164 (GRCm38) L340P probably damaging Het
Slc45a1 T A 4: 150,643,909 (GRCm38) probably benign Het
Slmap T C 14: 26,459,933 (GRCm38) E386G probably benign Het
Smc2 C T 4: 52,475,096 (GRCm38) A924V probably benign Het
Sp110 C G 1: 85,589,118 (GRCm38) E219D probably damaging Het
Tecta G A 9: 42,375,063 (GRCm38) L766F probably damaging Het
Tle3 C T 9: 61,407,489 (GRCm38) probably null Het
Top3a A G 11: 60,762,490 (GRCm38) F53L probably damaging Het
Trappc2b A T 11: 51,685,974 (GRCm38) D32E probably benign Het
Trem1 T C 17: 48,241,513 (GRCm38) I26T possibly damaging Het
Ttc7b G T 12: 100,446,963 (GRCm38) Q199K possibly damaging Het
Ubap2l T C 3: 90,006,596 (GRCm38) Y975C probably benign Het
Ubxn11 C A 4: 134,123,426 (GRCm38) D196E probably damaging Het
Unc80 A G 1: 66,530,021 (GRCm38) H945R possibly damaging Het
Usp15 A G 10: 123,131,286 (GRCm38) I405T probably damaging Het
Uty C T Y: 1,189,339 (GRCm38) E138K probably damaging Het
Wapl A G 14: 34,677,295 (GRCm38) E107G probably benign Het
Wbp1l T C 19: 46,644,457 (GRCm38) probably null Het
Zfp184 T G 13: 21,949,640 (GRCm38) probably benign Het
Zfp36 A C 7: 28,377,868 (GRCm38) L205R possibly damaging Het
Other mutations in Nrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Nrp2 APN 1 62,704,251 (GRCm38) nonsense probably null
IGL01912:Nrp2 APN 1 62,771,737 (GRCm38) missense probably damaging 1.00
IGL01996:Nrp2 APN 1 62,749,260 (GRCm38) missense probably damaging 1.00
IGL02184:Nrp2 APN 1 62,718,940 (GRCm38) nonsense probably null
IGL02682:Nrp2 APN 1 62,771,837 (GRCm38) missense probably benign 0.03
IGL02928:Nrp2 APN 1 62,815,446 (GRCm38) missense probably damaging 1.00
IGL03024:Nrp2 APN 1 62,771,734 (GRCm38) missense probably damaging 1.00
Euphorbia UTSW 1 62,762,813 (GRCm38) missense probably benign 0.02
Sabra UTSW 1 62,783,521 (GRCm38) missense probably damaging 1.00
R0068:Nrp2 UTSW 1 62,745,377 (GRCm38) missense possibly damaging 0.95
R0068:Nrp2 UTSW 1 62,745,377 (GRCm38) missense possibly damaging 0.95
R0683:Nrp2 UTSW 1 62,744,318 (GRCm38) missense probably benign 0.41
R0789:Nrp2 UTSW 1 62,745,450 (GRCm38) missense probably benign 0.44
R1418:Nrp2 UTSW 1 62,783,332 (GRCm38) nonsense probably null
R1468:Nrp2 UTSW 1 62,738,299 (GRCm38) missense probably damaging 1.00
R1468:Nrp2 UTSW 1 62,738,299 (GRCm38) missense probably damaging 1.00
R1544:Nrp2 UTSW 1 62,762,904 (GRCm38) missense probably damaging 1.00
R1645:Nrp2 UTSW 1 62,785,124 (GRCm38) missense probably damaging 0.97
R1677:Nrp2 UTSW 1 62,783,320 (GRCm38) missense probably benign 0.18
R1752:Nrp2 UTSW 1 62,738,441 (GRCm38) missense probably damaging 1.00
R1840:Nrp2 UTSW 1 62,738,339 (GRCm38) missense probably damaging 1.00
R1916:Nrp2 UTSW 1 62,762,747 (GRCm38) missense probably damaging 1.00
R1962:Nrp2 UTSW 1 62,718,931 (GRCm38) missense probably benign 0.03
R2108:Nrp2 UTSW 1 62,744,277 (GRCm38) missense probably damaging 1.00
R2164:Nrp2 UTSW 1 62,744,355 (GRCm38) missense probably damaging 1.00
R2216:Nrp2 UTSW 1 62,762,918 (GRCm38) nonsense probably null
R2679:Nrp2 UTSW 1 62,785,078 (GRCm38) missense probably benign 0.00
R4349:Nrp2 UTSW 1 62,738,417 (GRCm38) missense probably damaging 1.00
R4351:Nrp2 UTSW 1 62,738,417 (GRCm38) missense probably damaging 1.00
R4352:Nrp2 UTSW 1 62,738,417 (GRCm38) missense probably damaging 1.00
R4353:Nrp2 UTSW 1 62,738,417 (GRCm38) missense probably damaging 1.00
R4811:Nrp2 UTSW 1 62,719,081 (GRCm38) missense probably damaging 1.00
R5362:Nrp2 UTSW 1 62,769,062 (GRCm38) missense probably benign 0.01
R5461:Nrp2 UTSW 1 62,747,211 (GRCm38) nonsense probably null
R5704:Nrp2 UTSW 1 62,785,108 (GRCm38) missense probably benign 0.00
R6143:Nrp2 UTSW 1 62,760,815 (GRCm38) missense probably damaging 1.00
R6303:Nrp2 UTSW 1 62,745,406 (GRCm38) missense probably damaging 1.00
R6304:Nrp2 UTSW 1 62,745,406 (GRCm38) missense probably damaging 1.00
R6376:Nrp2 UTSW 1 62,719,017 (GRCm38) missense possibly damaging 0.65
R6945:Nrp2 UTSW 1 62,760,788 (GRCm38) missense probably damaging 1.00
R7347:Nrp2 UTSW 1 62,745,504 (GRCm38) missense probably benign 0.04
R7393:Nrp2 UTSW 1 62,745,424 (GRCm38) missense probably damaging 0.98
R7593:Nrp2 UTSW 1 62,719,044 (GRCm38) missense probably damaging 0.96
R7881:Nrp2 UTSW 1 62,771,831 (GRCm38) missense probably benign 0.42
R7882:Nrp2 UTSW 1 62,783,521 (GRCm38) missense probably damaging 1.00
R7948:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R7958:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R7959:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R7960:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R7961:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R8009:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R8012:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R8014:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R8015:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R8068:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R8069:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R8070:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R8071:Nrp2 UTSW 1 62,745,408 (GRCm38) missense probably damaging 1.00
R8206:Nrp2 UTSW 1 62,747,215 (GRCm38) missense probably damaging 1.00
R8791:Nrp2 UTSW 1 62,749,197 (GRCm38) missense probably damaging 1.00
R9090:Nrp2 UTSW 1 62,745,511 (GRCm38) missense probably benign 0.21
R9271:Nrp2 UTSW 1 62,745,511 (GRCm38) missense probably benign 0.21
R9287:Nrp2 UTSW 1 62,795,855 (GRCm38) missense probably damaging 1.00
R9469:Nrp2 UTSW 1 62,764,871 (GRCm38) missense probably damaging 1.00
R9646:Nrp2 UTSW 1 62,738,407 (GRCm38) missense probably damaging 1.00
R9752:Nrp2 UTSW 1 62,812,567 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- TAAGCATGTGACCTGACGGC -3'
(R):5'- CCATTTAGGCTGTAGGAGACTTTG -3'

Sequencing Primer
(F):5'- GTGGACTCCAATTAGTAGGTCTCAGC -3'
(R):5'- AGGAGACTTTGAACTTGCGTAC -3'
Posted On 2016-08-04