Incidental Mutation 'R8071:Nrp2'
ID |
628886 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrp2
|
Ensembl Gene |
ENSMUSG00000025969 |
Gene Name |
neuropilin 2 |
Synonyms |
1110048P06Rik, NP-2, Npn-2, NP2, Npn2 |
MMRRC Submission |
067506-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R8071 (G1)
|
Quality Score |
225.009 |
Status
|
Not 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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.5%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acads |
T |
C |
5: 115,251,226 (GRCm39) |
E86G |
probably benign |
Het |
Agmo |
A |
G |
12: 37,448,728 (GRCm39) |
T217A |
probably damaging |
Het |
Arhgap39 |
A |
G |
15: 76,621,702 (GRCm39) |
S300P |
probably benign |
Het |
Casp12 |
T |
C |
9: 5,346,647 (GRCm39) |
L58P |
probably damaging |
Het |
Ccar2 |
T |
C |
14: 70,389,902 (GRCm39) |
T24A |
probably benign |
Het |
Ccndbp1 |
C |
A |
2: 120,845,046 (GRCm39) |
T321K |
unknown |
Het |
Cd200r3 |
G |
A |
16: 44,774,503 (GRCm39) |
C172Y |
probably damaging |
Het |
Chd2 |
T |
A |
7: 73,187,132 (GRCm39) |
H9L |
probably benign |
Het |
Cracdl |
C |
A |
1: 37,663,010 (GRCm39) |
E963* |
probably null |
Het |
Cramp1 |
T |
A |
17: 25,201,674 (GRCm39) |
S603C |
probably damaging |
Het |
Crtac1 |
C |
T |
19: 42,286,239 (GRCm39) |
R448H |
probably damaging |
Het |
Csmd2 |
A |
T |
4: 128,287,331 (GRCm39) |
Y1022F |
|
Het |
Ctns |
T |
C |
11: 73,075,760 (GRCm39) |
Y363C |
probably damaging |
Het |
D630044L22Rik |
A |
G |
17: 26,179,118 (GRCm39) |
T15A |
possibly damaging |
Het |
Dhx38 |
A |
C |
8: 110,285,333 (GRCm39) |
I444M |
probably benign |
Het |
Dnah14 |
A |
T |
1: 181,443,459 (GRCm39) |
I450F |
possibly damaging |
Het |
Dpf1 |
T |
C |
7: 29,013,566 (GRCm39) |
F245L |
probably benign |
Het |
Efr3b |
A |
G |
12: 4,032,898 (GRCm39) |
V269A |
probably benign |
Het |
Eprs1 |
G |
T |
1: 185,126,653 (GRCm39) |
V530L |
possibly damaging |
Het |
Eps8l2 |
A |
G |
7: 140,922,860 (GRCm39) |
N41S |
probably damaging |
Het |
Erbb4 |
T |
C |
1: 68,435,470 (GRCm39) |
I142M |
probably damaging |
Het |
Fhip1a |
T |
C |
3: 85,637,868 (GRCm39) |
M144V |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,457,445 (GRCm39) |
D2381V |
probably damaging |
Het |
Fndc1 |
T |
A |
17: 7,991,362 (GRCm39) |
D778V |
unknown |
Het |
Galnt3 |
A |
G |
2: 65,921,555 (GRCm39) |
I492T |
probably benign |
Het |
Gigyf2 |
T |
C |
1: 87,374,155 (GRCm39) |
M1261T |
probably damaging |
Het |
Haus8 |
A |
G |
8: 71,708,695 (GRCm39) |
F126S |
probably benign |
Het |
Hif3a |
A |
G |
7: 16,782,686 (GRCm39) |
L293S |
probably damaging |
Het |
Ino80c |
G |
A |
18: 24,239,707 (GRCm39) |
T200I |
unknown |
Het |
Jag1 |
T |
A |
2: 136,943,717 (GRCm39) |
M160L |
probably benign |
Het |
Kcnj12 |
C |
A |
11: 60,960,825 (GRCm39) |
H374Q |
probably damaging |
Het |
Lrrc27 |
A |
G |
7: 138,816,902 (GRCm39) |
I433M |
probably benign |
Het |
Lyzl4 |
C |
T |
9: 121,407,160 (GRCm39) |
W123* |
probably null |
Het |
Map2k4 |
A |
T |
11: 65,597,827 (GRCm39) |
C264S |
|
Het |
Mmrn1 |
C |
T |
6: 60,921,508 (GRCm39) |
|
probably benign |
Het |
Mug1 |
C |
T |
6: 121,850,631 (GRCm39) |
T709I |
probably benign |
Het |
Myo9a |
T |
A |
9: 59,781,931 (GRCm39) |
W1706R |
probably benign |
Het |
Nlrp5 |
A |
G |
7: 23,117,869 (GRCm39) |
E531G |
probably damaging |
Het |
Pcdhb11 |
A |
C |
18: 37,555,422 (GRCm39) |
I251L |
probably benign |
Het |
Per3 |
A |
G |
4: 151,113,270 (GRCm39) |
S353P |
probably damaging |
Het |
Piezo1 |
T |
C |
8: 123,213,750 (GRCm39) |
E1738G |
probably null |
Het |
Prr14l |
T |
C |
5: 32,988,508 (GRCm39) |
D329G |
probably benign |
Het |
Ptpn23 |
G |
T |
9: 110,217,267 (GRCm39) |
P863Q |
probably damaging |
Het |
Ptpn23 |
G |
T |
9: 110,217,268 (GRCm39) |
P863T |
possibly damaging |
Het |
Ptprq |
T |
C |
10: 107,479,896 (GRCm39) |
K1125E |
possibly damaging |
Het |
Rapgef2 |
T |
G |
3: 79,000,343 (GRCm39) |
T351P |
probably damaging |
Het |
Rbl2 |
A |
G |
8: 91,840,617 (GRCm39) |
Y923C |
probably damaging |
Het |
Rimbp3 |
T |
C |
16: 17,028,727 (GRCm39) |
V717A |
probably benign |
Het |
Rims1 |
C |
T |
1: 22,358,760 (GRCm39) |
W182* |
probably null |
Het |
Rnmt |
A |
G |
18: 68,440,723 (GRCm39) |
K129E |
probably benign |
Het |
Ruvbl1 |
T |
C |
6: 88,450,108 (GRCm39) |
F93S |
probably damaging |
Het |
Scamp5 |
T |
C |
9: 57,350,969 (GRCm39) |
Y231C |
probably damaging |
Het |
Sfxn5 |
T |
A |
6: 85,244,921 (GRCm39) |
|
probably null |
Het |
Skic2 |
A |
T |
17: 35,068,975 (GRCm39) |
V8D |
probably benign |
Het |
Slc12a1 |
T |
C |
2: 125,028,234 (GRCm39) |
F510S |
probably damaging |
Het |
Sowahb |
T |
C |
5: 93,190,922 (GRCm39) |
Y599C |
probably damaging |
Het |
Speer4e1 |
T |
C |
5: 14,987,111 (GRCm39) |
N98S |
probably damaging |
Het |
Stat3 |
T |
C |
11: 100,784,807 (GRCm39) |
N553S |
probably benign |
Het |
Sult6b2 |
A |
T |
6: 142,735,868 (GRCm39) |
L242Q |
probably damaging |
Het |
Tacc3 |
C |
T |
5: 33,821,169 (GRCm39) |
R98W |
possibly damaging |
Het |
Tuba4a |
C |
T |
1: 75,193,595 (GRCm39) |
R112H |
|
Het |
Ubr3 |
T |
A |
2: 69,819,220 (GRCm39) |
S1337T |
probably damaging |
Het |
Vmn2r69 |
A |
T |
7: 85,055,713 (GRCm39) |
C808* |
probably null |
Het |
Wnt16 |
G |
A |
6: 22,288,997 (GRCm39) |
A105T |
probably benign |
Het |
Zfp692 |
C |
T |
11: 58,198,560 (GRCm39) |
S50L |
probably damaging |
Het |
|
Other mutations in Nrp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- GCTCAGGGAAAGCACTTTTAATG -3'
(R):5'- AGAGGTCAGCCCTTTACCTG -3'
Sequencing Primer
(F):5'- TCAGGGGGAATATCAGACATCATTC -3'
(R):5'- GTACGTACACCTGTCCCTAATGAG -3'
|
Posted On |
2020-06-30 |