Incidental Mutation 'R9646:Nrp2'
ID 726696
Institutional Source Beutler Lab
Gene Symbol Nrp2
Ensembl Gene ENSMUSG00000025969
Gene Name neuropilin 2
Synonyms 1110048P06Rik, NP-2, Npn-2, NP2, Npn2
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R9646 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 62742476-62857851 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62777566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 124 (F124L)
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: F124L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027112
Gene: ENSMUSG00000025969
AA Change: F124L

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: F124L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069379
Gene: ENSMUSG00000025969
AA Change: F124L

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: F124L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000074642
Gene: ENSMUSG00000025969
AA Change: F124L

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: F124L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099886
Gene: ENSMUSG00000025969
AA Change: F124L

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: F124L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109792
Gene: ENSMUSG00000025969
AA Change: F124L

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: F124L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109794
Gene: ENSMUSG00000025969
AA Change: F124L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 A T 3: 148,544,926 (GRCm39) I723N probably damaging Het
Agbl1 G A 7: 76,075,648 (GRCm39) R682Q unknown Het
Ankrd42 A T 7: 92,273,257 (GRCm39) D123E possibly damaging Het
Anxa4 A T 6: 86,730,814 (GRCm39) I121N probably damaging Het
Asic1 T C 15: 99,593,414 (GRCm39) F257S probably benign Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Cckar T C 5: 53,863,608 (GRCm39) T118A probably benign Het
Cfap61 T A 2: 145,854,152 (GRCm39) I388N probably damaging Het
Chrnd A T 1: 87,120,311 (GRCm39) I156F probably damaging Het
Col15a1 T A 4: 47,257,187 (GRCm39) L326Q possibly damaging Het
Dcpp3 A T 17: 24,138,156 (GRCm39) I105L possibly damaging Het
Dnaaf5 T A 5: 139,151,832 (GRCm39) H494Q probably benign Het
Dph5 T A 3: 115,708,692 (GRCm39) Y125N probably damaging Het
Eif4enif1 T C 11: 3,170,280 (GRCm39) V111A probably damaging Het
Etl4 T A 2: 20,802,724 (GRCm39) I1010K probably benign Het
Faf1 T A 4: 109,652,016 (GRCm39) W236R probably damaging Het
Fat4 A G 3: 39,035,813 (GRCm39) D3155G probably damaging Het
Fhip2b T C 14: 70,827,808 (GRCm39) H125R probably damaging Het
Firrm A G 1: 163,822,195 (GRCm39) V32A probably damaging Het
Galnt12 T C 4: 47,120,390 (GRCm39) I491T probably damaging Het
Gm10553 T A 1: 85,077,901 (GRCm39) L6Q probably damaging Het
H2-T10 A T 17: 36,431,157 (GRCm39) I168N probably damaging Het
Hdac9 T A 12: 34,487,167 (GRCm39) Q78L probably damaging Het
Hmx1 C T 5: 35,549,400 (GRCm39) T231M probably damaging Het
Hrob A T 11: 102,146,586 (GRCm39) Q287H possibly damaging Het
Hsd17b13 T C 5: 104,124,973 (GRCm39) K70R probably null Het
Hykk C T 9: 54,853,521 (GRCm39) T281I probably benign Het
Il1r2 A G 1: 40,162,362 (GRCm39) D335G probably damaging Het
Insig2 A C 1: 121,240,040 (GRCm39) L87V probably damaging Het
Insrr A T 3: 87,721,805 (GRCm39) Y1193F probably damaging Het
Itpr1 A G 6: 108,371,845 (GRCm39) Y1173C probably damaging Het
Kcnh8 A G 17: 53,104,573 (GRCm39) N190S probably benign Het
Kntc1 T C 5: 123,897,119 (GRCm39) F161L probably benign Het
Lilra5 T C 7: 4,244,907 (GRCm39) L226P probably damaging Het
Muc2 C T 7: 141,276,643 (GRCm39) A11V probably benign Het
Or52e4 T C 7: 104,706,374 (GRCm39) I307T probably benign Het
Or5m11b T A 2: 85,806,446 (GRCm39) N286K probably benign Het
Or5w15 T A 2: 87,568,512 (GRCm39) D52V probably damaging Het
Or8c19-ps1 T A 9: 38,220,114 (GRCm39) S8T probably damaging Het
Pcdhb17 A T 18: 37,618,471 (GRCm39) N87I possibly damaging Het
Pdgfrb T A 18: 61,211,721 (GRCm39) probably null Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pepd A T 7: 34,620,882 (GRCm39) Q49L possibly damaging Het
Pigo C A 4: 43,017,967 (GRCm39) R1083L probably damaging Het
Pitpnm1 G A 19: 4,153,269 (GRCm39) D142N probably damaging Het
Plod1 C T 4: 148,016,112 (GRCm39) E93K probably benign Het
Pramel11 A T 4: 143,623,634 (GRCm39) V180E probably damaging Het
Rev3l T C 10: 39,698,440 (GRCm39) I979T probably damaging Het
Scrib C T 15: 75,932,492 (GRCm39) G743D probably damaging Het
Septin3 T C 15: 82,170,088 (GRCm39) S205P probably benign Het
Sez6 A G 11: 77,867,632 (GRCm39) K850E probably damaging Het
Sfxn5 T A 6: 85,266,195 (GRCm39) T101S probably damaging Het
Slc6a5 A T 7: 49,567,496 (GRCm39) K317* probably null Het
Sox8 A T 17: 25,786,871 (GRCm39) D277E probably benign Het
Sptbn2 G T 19: 4,795,341 (GRCm39) A1600S probably damaging Het
Syne1 A G 10: 5,179,187 (GRCm39) V4429A possibly damaging Het
Tnrc6b T A 15: 80,773,266 (GRCm39) F1137L possibly damaging Het
Trim43a A G 9: 88,466,392 (GRCm39) R238G probably benign Het
Triobp T C 15: 78,887,934 (GRCm39) L1943P probably damaging Het
Vmn1r125 T C 7: 21,006,261 (GRCm39) V53A possibly damaging Het
Vwa5b1 T A 4: 138,319,420 (GRCm39) N412I probably damaging Het
Yipf7 T A 5: 69,678,424 (GRCm39) T122S probably benign Het
Zfp1005 C T 2: 150,110,104 (GRCm39) H265Y 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
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
R9752:Nrp2 UTSW 1 62,851,726 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGATAAAGGTCCCTTTCCAGGC -3'
(R):5'- GGCTCACTGTAGGTGTCACTTC -3'

Sequencing Primer
(F):5'- CAGGCCTTCAGACTGTTCG -3'
(R):5'- CACCATAGTGGGGCCAGATGAC -3'
Posted On 2022-10-06