Incidental Mutation 'IGL01996:Nrp2'
ID |
182920 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nrp2
|
Ensembl Gene |
ENSMUSG00000025969 |
Gene Name |
neuropilin 2 |
Synonyms |
1110048P06Rik, NP-2, Npn-2, NP2, Npn2 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
IGL01996
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
62742476-62857851 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62788419 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 373
(M373T)
|
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: M373T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027112 Gene: ENSMUSG00000025969 AA Change: M373T
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: M373T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069379 Gene: ENSMUSG00000025969 AA Change: M373T
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: M373T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074642 Gene: ENSMUSG00000025969 AA Change: M373T
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: M373T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099886 Gene: ENSMUSG00000025969 AA Change: M373T
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 damaging
Transcript: ENSMUST00000114155
AA Change: M373T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109792 Gene: ENSMUSG00000025969 AA Change: M373T
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: M373T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109794 Gene: ENSMUSG00000025969 AA Change: M373T
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 |
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
T |
C |
1: 120,078,430 (GRCm39) |
V29A |
possibly damaging |
Het |
Adarb1 |
A |
G |
10: 77,158,051 (GRCm39) |
L132P |
probably damaging |
Het |
Afg3l1 |
T |
G |
8: 124,228,633 (GRCm39) |
M733R |
probably damaging |
Het |
Aox1 |
C |
T |
1: 58,121,225 (GRCm39) |
R899C |
probably benign |
Het |
Arhgap44 |
T |
A |
11: 64,896,322 (GRCm39) |
|
probably benign |
Het |
Asns |
T |
C |
6: 7,682,378 (GRCm39) |
D189G |
possibly damaging |
Het |
Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
Ccdc138 |
T |
A |
10: 58,397,852 (GRCm39) |
L564H |
probably damaging |
Het |
Ccdc167 |
A |
G |
17: 29,924,461 (GRCm39) |
|
probably null |
Het |
Ccdc178 |
A |
G |
18: 22,230,813 (GRCm39) |
Y353H |
probably damaging |
Het |
Clca3b |
A |
T |
3: 144,554,924 (GRCm39) |
S41R |
probably benign |
Het |
Dpep3 |
T |
C |
8: 106,701,358 (GRCm39) |
N397S |
probably damaging |
Het |
Eif1 |
T |
C |
11: 100,211,826 (GRCm39) |
I83T |
probably benign |
Het |
Enah |
A |
T |
1: 181,784,070 (GRCm39) |
W80R |
unknown |
Het |
F2rl1 |
C |
T |
13: 95,650,432 (GRCm39) |
C150Y |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,434,440 (GRCm39) |
R387G |
possibly damaging |
Het |
Fsd1l |
A |
G |
4: 53,647,760 (GRCm39) |
T68A |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,740,846 (GRCm39) |
K1412R |
possibly damaging |
Het |
Grin2b |
T |
C |
6: 135,709,584 (GRCm39) |
S1321G |
probably damaging |
Het |
H4c11 |
G |
A |
13: 21,919,308 (GRCm39) |
G15S |
unknown |
Het |
Itgb7 |
C |
T |
15: 102,126,412 (GRCm39) |
G508D |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,895,545 (GRCm39) |
I333T |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,934,542 (GRCm39) |
D2115G |
probably damaging |
Het |
Lmtk3 |
G |
A |
7: 45,442,871 (GRCm39) |
|
probably null |
Het |
Lrpprc |
A |
G |
17: 85,080,698 (GRCm39) |
Y176H |
probably benign |
Het |
Mier1 |
T |
C |
4: 102,984,473 (GRCm39) |
S22P |
possibly damaging |
Het |
Mme |
A |
T |
3: 63,250,970 (GRCm39) |
N337I |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,350,679 (GRCm39) |
Y687C |
probably damaging |
Het |
Nudcd1 |
A |
T |
15: 44,269,357 (GRCm39) |
F101Y |
probably benign |
Het |
Nup133 |
T |
A |
8: 124,673,334 (GRCm39) |
I66L |
probably benign |
Het |
Or10j7 |
T |
C |
1: 173,011,294 (GRCm39) |
T236A |
probably benign |
Het |
Or11j4 |
T |
G |
14: 50,631,116 (GRCm39) |
M301R |
probably damaging |
Het |
Or1e19 |
T |
A |
11: 73,316,794 (GRCm39) |
N5I |
probably damaging |
Het |
Osbpl5 |
A |
G |
7: 143,261,081 (GRCm39) |
|
probably null |
Het |
Paqr8 |
T |
C |
1: 21,005,628 (GRCm39) |
F261L |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,482,084 (GRCm39) |
E1452G |
probably damaging |
Het |
Polh |
T |
C |
17: 46,483,927 (GRCm39) |
D446G |
probably benign |
Het |
Psg19 |
A |
T |
7: 18,523,986 (GRCm39) |
M353K |
possibly damaging |
Het |
Sap25 |
T |
C |
5: 137,640,080 (GRCm39) |
|
probably null |
Het |
Sap30l |
C |
T |
11: 57,700,777 (GRCm39) |
R144* |
probably null |
Het |
Sema6b |
C |
T |
17: 56,438,157 (GRCm39) |
V144M |
probably damaging |
Het |
Sfmbt2 |
T |
C |
2: 10,444,837 (GRCm39) |
Y228H |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,965,230 (GRCm39) |
D946G |
probably damaging |
Het |
Slc11a1 |
T |
A |
1: 74,415,965 (GRCm39) |
L52Q |
possibly damaging |
Het |
Sptlc3 |
T |
C |
2: 139,423,424 (GRCm39) |
|
probably benign |
Het |
Tgfb1i1 |
T |
C |
7: 127,848,464 (GRCm39) |
|
probably benign |
Het |
Tifa |
T |
C |
3: 127,590,229 (GRCm39) |
|
probably benign |
Het |
Tomm40l |
C |
T |
1: 171,047,224 (GRCm39) |
V265M |
possibly damaging |
Het |
Trim45 |
C |
A |
3: 100,835,425 (GRCm39) |
Y469* |
probably null |
Het |
Ttc21a |
G |
T |
9: 119,787,182 (GRCm39) |
A730S |
probably damaging |
Het |
Vmn1r18 |
A |
T |
6: 57,367,001 (GRCm39) |
D184E |
possibly damaging |
Het |
Vmn2r120 |
A |
T |
17: 57,832,222 (GRCm39) |
I189N |
possibly 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 |
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 |
R9752:Nrp2
|
UTSW |
1 |
62,851,726 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2014-05-07 |