Incidental Mutation 'R9752:Nrp2'
ID |
732548 |
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)
|
Stock # |
R9752 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
62742476-62857851 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62851726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 825
(Y825F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063594]
[ENSMUST00000075144]
[ENSMUST00000102822]
[ENSMUST00000114157]
|
AlphaFold |
O35375 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063594
AA Change: Y820F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000069379 Gene: ENSMUSG00000025969 AA Change: Y820F
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 benign
Transcript: ENSMUST00000075144
|
SMART Domains |
Protein: ENSMUSP00000074642 Gene: ENSMUSG00000025969
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 benign
Transcript: ENSMUST00000102822
|
SMART Domains |
Protein: ENSMUSP00000099886 Gene: ENSMUSG00000025969
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: ENSMUST00000114157
AA Change: Y825F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109794 Gene: ENSMUSG00000025969 AA Change: Y825F
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano2 |
C |
T |
6: 125,840,499 (GRCm39) |
T390I |
probably damaging |
Het |
Cc2d2b |
T |
C |
19: 40,781,271 (GRCm39) |
V772A |
probably damaging |
Het |
Cd109 |
A |
G |
9: 78,614,834 (GRCm39) |
I1294V |
probably benign |
Het |
Cic |
A |
G |
7: 24,971,403 (GRCm39) |
E378G |
probably damaging |
Het |
Clhc1 |
C |
T |
11: 29,507,778 (GRCm39) |
P175L |
probably benign |
Het |
Clip1 |
T |
C |
5: 123,760,009 (GRCm39) |
E783G |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,488,019 (GRCm39) |
Y546H |
probably damaging |
Het |
Cog7 |
C |
A |
7: 121,580,639 (GRCm39) |
|
probably null |
Het |
Cr2 |
T |
C |
1: 194,823,575 (GRCm39) |
T1008A |
probably benign |
Het |
Diaph1 |
T |
C |
18: 38,036,124 (GRCm39) |
T196A |
unknown |
Het |
Entr1 |
T |
C |
2: 26,276,990 (GRCm39) |
N247D |
probably benign |
Het |
Flg2 |
A |
T |
3: 93,108,467 (GRCm39) |
D165V |
probably damaging |
Het |
Fstl1 |
T |
G |
16: 37,649,534 (GRCm39) |
N249K |
probably damaging |
Het |
Gatad2a |
A |
G |
8: 70,364,839 (GRCm39) |
V515A |
probably benign |
Het |
Gbp2b |
A |
T |
3: 142,313,917 (GRCm39) |
D399V |
probably benign |
Het |
Gna14 |
G |
A |
19: 16,586,781 (GRCm39) |
V319I |
probably benign |
Het |
Grip1 |
A |
G |
10: 119,871,256 (GRCm39) |
D661G |
possibly damaging |
Het |
Gtf3c4 |
C |
A |
2: 28,724,126 (GRCm39) |
L535F |
probably damaging |
Het |
Haus8 |
A |
C |
8: 71,715,731 (GRCm39) |
S36A |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
Hectd4 |
C |
T |
5: 121,472,415 (GRCm39) |
A2717V |
possibly damaging |
Het |
Hsf5 |
C |
T |
11: 87,513,709 (GRCm39) |
T258M |
probably benign |
Het |
Ifi209 |
A |
T |
1: 173,472,235 (GRCm39) |
I359F |
probably damaging |
Het |
Ighmbp2 |
A |
G |
19: 3,324,360 (GRCm39) |
V302A |
probably benign |
Het |
Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
Itgav |
T |
A |
2: 83,600,451 (GRCm39) |
|
probably null |
Het |
Kcp |
A |
T |
6: 29,497,754 (GRCm39) |
D502E |
probably damaging |
Het |
Kif15 |
T |
C |
9: 122,824,890 (GRCm39) |
|
probably null |
Het |
Lipo2 |
C |
G |
19: 33,723,221 (GRCm39) |
K189N |
possibly damaging |
Het |
Lrch4 |
T |
A |
5: 137,636,218 (GRCm39) |
S390T |
probably benign |
Het |
Mast2 |
G |
T |
4: 116,179,508 (GRCm39) |
H389N |
probably benign |
Het |
Med13 |
A |
G |
11: 86,174,147 (GRCm39) |
Y1784H |
possibly damaging |
Het |
Micu3 |
A |
G |
8: 40,833,751 (GRCm39) |
K462E |
possibly damaging |
Het |
Mrps10 |
T |
C |
17: 47,683,572 (GRCm39) |
|
probably null |
Het |
Msh6 |
T |
C |
17: 88,293,963 (GRCm39) |
L906P |
probably damaging |
Het |
Nphp4 |
A |
G |
4: 152,621,737 (GRCm39) |
E531G |
probably benign |
Het |
Ntn1 |
C |
T |
11: 68,276,712 (GRCm39) |
V79M |
possibly damaging |
Het |
Nxnl2 |
A |
G |
13: 51,325,507 (GRCm39) |
D50G |
probably damaging |
Het |
Or1e16 |
T |
A |
11: 73,286,479 (GRCm39) |
Y123F |
possibly damaging |
Het |
Or2t26 |
T |
C |
11: 49,039,681 (GRCm39) |
M199T |
probably benign |
Het |
Or52h9 |
A |
T |
7: 104,202,530 (GRCm39) |
I135F |
possibly damaging |
Het |
Or52r1c |
T |
A |
7: 102,735,669 (GRCm39) |
C310S |
probably benign |
Het |
Or6c219 |
T |
C |
10: 129,780,990 (GRCm39) |
R314G |
probably benign |
Het |
Or7e176 |
G |
A |
9: 20,171,204 (GRCm39) |
V23I |
probably benign |
Het |
Ppp1r42 |
A |
G |
1: 10,073,674 (GRCm39) |
|
probably benign |
Het |
Ppp4r3a |
A |
T |
12: 101,008,763 (GRCm39) |
N692K |
probably benign |
Het |
Prr11 |
T |
C |
11: 86,994,416 (GRCm39) |
T77A |
possibly damaging |
Het |
Resf1 |
T |
A |
6: 149,228,068 (GRCm39) |
N371K |
probably benign |
Het |
Rrn3 |
A |
G |
16: 13,631,095 (GRCm39) |
I644V |
probably benign |
Het |
Scd4 |
T |
C |
19: 44,322,475 (GRCm39) |
S23P |
probably benign |
Het |
Slc26a2 |
T |
A |
18: 61,335,010 (GRCm39) |
S148C |
probably benign |
Het |
Slc7a8 |
T |
C |
14: 54,995,931 (GRCm39) |
E157G |
probably benign |
Het |
Spi1 |
A |
G |
2: 90,943,666 (GRCm39) |
H70R |
probably benign |
Het |
Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
Tlr4 |
A |
G |
4: 66,757,912 (GRCm39) |
N235S |
probably benign |
Het |
Trpc6 |
C |
A |
9: 8,643,641 (GRCm39) |
S475R |
probably benign |
Het |
Usp34 |
C |
T |
11: 23,409,182 (GRCm39) |
P2674L |
probably benign |
Het |
Usp48 |
G |
A |
4: 137,341,137 (GRCm39) |
G379D |
probably damaging |
Het |
Vkorc1l1 |
T |
A |
5: 130,011,078 (GRCm39) |
C97* |
probably null |
Het |
Wfikkn2 |
T |
C |
11: 94,129,211 (GRCm39) |
E310G |
probably benign |
Het |
Zfp266 |
T |
A |
9: 20,411,496 (GRCm39) |
N227I |
probably benign |
Het |
Zfp335 |
C |
T |
2: 164,749,347 (GRCm39) |
|
probably null |
Het |
Zfp677 |
T |
A |
17: 21,618,511 (GRCm39) |
C523S |
probably damaging |
Het |
Zrsr2 |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
X: 162,719,750 (GRCm39) |
|
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCCAAGTGATCTTAACATGGG -3'
(R):5'- ATCTGGAGCTTTGACCCTGG -3'
Sequencing Primer
(F):5'- GTATAGTTCTCTAGACGCTTACCGAG -3'
(R):5'- CCCTGGCAAGGTAATTAATGGTTCC -3'
|
Posted On |
2022-11-14 |