Incidental Mutation 'R8015:Nrp2'
| ID |
617107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp2
|
| Ensembl Gene |
ENSMUSG00000025969 |
| Gene Name |
neuropilin 2 |
| Synonyms |
1110048P06Rik, NP-2, Npn-2, NP2, Npn2 |
| MMRRC Submission |
067455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R8015 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alad |
A |
G |
4: 62,430,159 (GRCm39) |
V121A |
probably damaging |
Het |
| Anapc2 |
T |
A |
2: 25,174,688 (GRCm39) |
Y684N |
probably benign |
Het |
| Atp10a |
G |
T |
7: 58,453,245 (GRCm39) |
R808L |
probably benign |
Het |
| Best2 |
A |
G |
8: 85,735,983 (GRCm39) |
V317A |
probably damaging |
Het |
| Bmal2 |
T |
C |
6: 146,722,088 (GRCm39) |
S220P |
probably damaging |
Het |
| Cacnb4 |
A |
G |
2: 52,354,655 (GRCm39) |
L241P |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,758,940 (GRCm39) |
T2089A |
possibly damaging |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Defb13 |
G |
T |
8: 22,436,828 (GRCm39) |
V8F |
possibly damaging |
Het |
| Dpp6 |
C |
T |
5: 27,022,808 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,036,065 (GRCm39) |
D3239G |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,474,062 (GRCm39) |
R4793S |
possibly damaging |
Het |
| Hspa1a |
T |
A |
17: 35,189,625 (GRCm39) |
Q426L |
probably damaging |
Het |
| Hycc2 |
A |
G |
1: 58,574,641 (GRCm39) |
V300A |
possibly damaging |
Het |
| Il20rb |
T |
A |
9: 100,356,947 (GRCm39) |
Y61F |
probably damaging |
Het |
| Iqcn |
C |
T |
8: 71,169,441 (GRCm39) |
S1177L |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,448,882 (GRCm39) |
V496D |
possibly damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,317,109 (GRCm39) |
S102P |
unknown |
Het |
| Jmjd8 |
T |
A |
17: 26,048,302 (GRCm39) |
F108I |
probably damaging |
Het |
| Krtap15-1 |
A |
G |
16: 88,626,097 (GRCm39) |
T55A |
possibly damaging |
Het |
| Lce3d |
A |
T |
3: 92,865,810 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
C |
A |
17: 17,766,761 (GRCm39) |
V702F |
probably damaging |
Het |
| Lox |
G |
A |
18: 52,661,420 (GRCm39) |
A218V |
probably benign |
Het |
| Mcrs1 |
T |
A |
15: 99,146,735 (GRCm39) |
K99* |
probably null |
Het |
| Mfsd8 |
G |
A |
3: 40,801,270 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
G |
T |
3: 88,818,863 (GRCm39) |
P264Q |
probably damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,326,303 (GRCm39) |
D308G |
probably benign |
Het |
| Or5g25 |
G |
T |
2: 85,478,136 (GRCm39) |
H176Q |
probably damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,814 (GRCm39) |
H36L |
probably damaging |
Het |
| Pate9 |
A |
G |
9: 36,446,250 (GRCm39) |
V54A |
probably benign |
Het |
| Phf20l1 |
T |
G |
15: 66,511,797 (GRCm39) |
N925K |
possibly damaging |
Het |
| Pnliprp2 |
G |
T |
19: 58,754,714 (GRCm39) |
V253F |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,484,353 (GRCm39) |
D745G |
probably damaging |
Het |
| Ptdss1 |
T |
A |
13: 67,111,407 (GRCm39) |
W158R |
possibly damaging |
Het |
| Rcn3 |
T |
A |
7: 44,734,331 (GRCm39) |
I226F |
probably damaging |
Het |
| Rhbdl1 |
C |
G |
17: 26,054,825 (GRCm39) |
V157L |
probably damaging |
Het |
| Slc30a2 |
A |
G |
4: 134,074,761 (GRCm39) |
T173A |
probably benign |
Het |
| Spata16 |
A |
G |
3: 26,721,808 (GRCm39) |
T110A |
probably benign |
Het |
| Specc1l |
A |
G |
10: 75,076,902 (GRCm39) |
K53E |
probably benign |
Het |
| Speg |
G |
T |
1: 75,392,065 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,067,737 (GRCm39) |
C2055S |
probably damaging |
Het |
| Tex14 |
G |
A |
11: 87,400,426 (GRCm39) |
R406Q |
probably benign |
Het |
| Tmem150b |
C |
T |
7: 4,719,327 (GRCm39) |
G198S |
probably null |
Het |
| Tnfrsf14 |
T |
G |
4: 155,011,118 (GRCm39) |
Q81P |
probably damaging |
Het |
| Txndc17 |
A |
G |
11: 72,098,568 (GRCm39) |
K40R |
probably benign |
Het |
| Ube3a |
T |
A |
7: 58,934,504 (GRCm39) |
V560E |
probably damaging |
Het |
| Vmn1r14 |
A |
G |
6: 57,211,015 (GRCm39) |
M198V |
probably damaging |
Het |
| Vmn2r23 |
G |
A |
6: 123,681,500 (GRCm39) |
S136N |
probably benign |
Het |
| Vmn2r31 |
C |
T |
7: 7,387,199 (GRCm39) |
V791I |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,829,704 (GRCm39) |
Y984C |
|
Het |
| Zfp386 |
T |
G |
12: 116,023,027 (GRCm39) |
D248E |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCAGGGAAAGCACTTTTAATG -3'
(R):5'- GTCAGCCCTTTACCTGTACG -3'
Sequencing Primer
(F):5'- TCAGGGGGAATATCAGACATCATTC -3'
(R):5'- GTACGTACACCTGTCCCTAATGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation