Incidental Mutation 'R0068:Nrp2'
ID |
17356 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrp2
|
Ensembl Gene |
ENSMUSG00000025969 |
Gene Name |
neuropilin 2 |
Synonyms |
1110048P06Rik, NP-2, Npn-2, NP2, Npn2 |
MMRRC Submission |
038359-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R0068 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
62742476-62857851 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 62784536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 228
(K228N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027112]
[ENSMUST00000063594]
[ENSMUST00000075144]
[ENSMUST00000102822]
[ENSMUST00000114155]
[ENSMUST00000114157]
|
AlphaFold |
O35375 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027112
AA Change: K228N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027112 Gene: ENSMUSG00000025969 AA Change: K228N
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 |
possibly damaging
Transcript: ENSMUST00000063594
AA Change: K228N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000069379 Gene: ENSMUSG00000025969 AA Change: K228N
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 |
possibly damaging
Transcript: ENSMUST00000075144
AA Change: K228N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000074642 Gene: ENSMUSG00000025969 AA Change: K228N
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 |
possibly damaging
Transcript: ENSMUST00000102822
AA Change: K228N
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099886 Gene: ENSMUSG00000025969 AA Change: K228N
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 |
possibly damaging
Transcript: ENSMUST00000114155
AA Change: K228N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109792 Gene: ENSMUSG00000025969 AA Change: K228N
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 |
possibly damaging
Transcript: ENSMUST00000114157
AA Change: K228N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109794 Gene: ENSMUSG00000025969 AA Change: K228N
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 |
0.0810 |
Coding Region Coverage |
- 1x: 89.9%
- 3x: 97.6%
- 10x: 82.1%
- 20x: 74.0%
|
Validation Efficiency |
94% (83/88) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,036,405 (GRCm39) |
N568S |
probably damaging |
Het |
Aldoart2 |
G |
T |
12: 55,612,233 (GRCm39) |
E53* |
probably null |
Het |
Ankra2 |
C |
T |
13: 98,409,891 (GRCm39) |
Q137* |
probably null |
Het |
Arpc1a |
C |
T |
5: 145,028,054 (GRCm39) |
T21I |
possibly damaging |
Het |
Arvcf |
T |
C |
16: 18,214,819 (GRCm39) |
|
probably benign |
Het |
Ash1l |
C |
A |
3: 88,914,624 (GRCm39) |
S1751R |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,006,370 (GRCm39) |
T1675A |
probably benign |
Het |
Bsn |
C |
A |
9: 107,989,336 (GRCm39) |
G2139C |
probably damaging |
Het |
Cbl |
A |
T |
9: 44,065,491 (GRCm39) |
S22T |
probably damaging |
Het |
Ccdc148 |
T |
C |
2: 58,717,629 (GRCm39) |
E530G |
probably benign |
Het |
Cct3 |
A |
G |
3: 88,225,772 (GRCm39) |
D365G |
probably benign |
Het |
Cep85 |
A |
T |
4: 133,881,606 (GRCm39) |
H332Q |
probably benign |
Het |
Cwf19l1 |
A |
T |
19: 44,119,938 (GRCm39) |
Y68N |
probably damaging |
Het |
Dlc1 |
T |
A |
8: 37,404,875 (GRCm39) |
M305L |
probably benign |
Het |
Dnm1l |
C |
A |
16: 16,141,883 (GRCm39) |
G288C |
probably damaging |
Het |
Exoc7 |
T |
C |
11: 116,195,732 (GRCm39) |
Y83C |
probably damaging |
Het |
Fignl2 |
A |
T |
15: 100,952,129 (GRCm39) |
I51N |
probably damaging |
Het |
Flnb |
A |
G |
14: 7,915,290 (GRCm38) |
N1474D |
possibly damaging |
Het |
Ghrhr |
C |
T |
6: 55,357,849 (GRCm39) |
|
probably benign |
Het |
Gucy1b1 |
T |
C |
3: 81,942,185 (GRCm39) |
T525A |
probably benign |
Het |
Hhip |
T |
G |
8: 80,715,885 (GRCm39) |
D557A |
probably damaging |
Het |
Hps5 |
A |
G |
7: 46,426,466 (GRCm39) |
|
probably benign |
Het |
Igsf10 |
A |
T |
3: 59,238,045 (GRCm39) |
V712D |
probably damaging |
Het |
Irf6 |
G |
T |
1: 192,848,067 (GRCm39) |
|
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,323,034 (GRCm39) |
|
probably benign |
Het |
Jag2 |
A |
G |
12: 112,878,813 (GRCm39) |
|
probably benign |
Het |
Kansl1l |
A |
G |
1: 66,760,047 (GRCm39) |
V911A |
probably benign |
Het |
Kdm3b |
C |
T |
18: 34,957,827 (GRCm39) |
T1064I |
probably benign |
Het |
Lrriq1 |
T |
A |
10: 102,899,279 (GRCm39) |
Q1654L |
probably benign |
Het |
Ltbp1 |
A |
G |
17: 75,666,404 (GRCm39) |
T1366A |
probably damaging |
Het |
Mroh1 |
A |
G |
15: 76,330,892 (GRCm39) |
|
probably benign |
Het |
Napb |
G |
A |
2: 148,540,843 (GRCm39) |
|
probably benign |
Het |
Nebl |
T |
A |
2: 17,439,782 (GRCm39) |
R164* |
probably null |
Het |
Npc1 |
G |
C |
18: 12,341,424 (GRCm39) |
P532A |
probably benign |
Het |
Or13f5 |
T |
A |
4: 52,825,503 (GRCm39) |
Y35* |
probably null |
Het |
Plekhg1 |
A |
T |
10: 3,890,502 (GRCm39) |
Y386F |
probably damaging |
Het |
Pmfbp1 |
G |
C |
8: 110,269,011 (GRCm39) |
|
probably benign |
Het |
Poln |
T |
C |
5: 34,234,432 (GRCm39) |
|
probably benign |
Het |
Polr1c |
A |
G |
17: 46,555,829 (GRCm39) |
V200A |
probably benign |
Het |
Ppil1 |
A |
T |
17: 29,471,230 (GRCm39) |
F92I |
probably damaging |
Het |
Ptchd3 |
T |
G |
11: 121,733,798 (GRCm39) |
L896R |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,700,827 (GRCm39) |
N1775D |
possibly damaging |
Het |
Robo4 |
G |
A |
9: 37,315,773 (GRCm39) |
R342Q |
probably benign |
Het |
Rusc2 |
T |
C |
4: 43,424,100 (GRCm39) |
|
probably benign |
Het |
S100pbp |
T |
C |
4: 129,038,249 (GRCm39) |
|
probably benign |
Het |
Slc25a48 |
T |
C |
13: 56,599,024 (GRCm39) |
V118A |
probably damaging |
Het |
Slc38a10 |
T |
C |
11: 120,025,679 (GRCm39) |
D219G |
probably damaging |
Het |
Slc38a2 |
C |
T |
15: 96,589,173 (GRCm39) |
|
probably null |
Het |
Slc39a12 |
A |
G |
2: 14,440,489 (GRCm39) |
E480G |
probably benign |
Het |
Tab2 |
C |
A |
10: 7,795,441 (GRCm39) |
R347L |
probably damaging |
Het |
Tas2r123 |
T |
C |
6: 132,824,955 (GRCm39) |
I284T |
possibly damaging |
Het |
Tex9 |
A |
G |
9: 72,394,051 (GRCm39) |
|
probably benign |
Het |
Tifab |
A |
G |
13: 56,324,218 (GRCm39) |
L75P |
probably damaging |
Het |
Tmc5 |
T |
A |
7: 118,233,460 (GRCm39) |
D91E |
probably benign |
Het |
Tnks1bp1 |
T |
A |
2: 84,892,696 (GRCm39) |
D212E |
probably benign |
Het |
Ugcg |
A |
G |
4: 59,217,130 (GRCm39) |
D218G |
probably benign |
Het |
Zfp451 |
A |
T |
1: 33,816,706 (GRCm39) |
L198I |
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 |
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 |
2013-01-20 |