Incidental Mutation 'R8009:Nrp2'
| ID |
616780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp2
|
| Ensembl Gene |
ENSMUSG00000025969 |
| Gene Name |
neuropilin 2 |
| Synonyms |
1110048P06Rik, NP-2, Npn-2, NP2, Npn2 |
| MMRRC Submission |
046049-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R8009 (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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (54/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,878,870 (GRCm39) |
N751K |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,941,816 (GRCm39) |
Y1466* |
probably null |
Het |
| Ccng1 |
G |
A |
11: 40,642,096 (GRCm39) |
H229Y |
probably benign |
Het |
| Cenpn |
C |
A |
8: 117,663,976 (GRCm39) |
T256N |
probably benign |
Het |
| Ciart |
A |
G |
3: 95,788,629 (GRCm39) |
V70A |
possibly damaging |
Het |
| Clcc1 |
A |
G |
3: 108,568,774 (GRCm39) |
N36S |
probably damaging |
Het |
| Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
| Dmrt3 |
T |
C |
19: 25,588,272 (GRCm39) |
V37A |
possibly damaging |
Het |
| Dock1 |
T |
A |
7: 134,346,786 (GRCm39) |
D239E |
possibly damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,063,995 (GRCm39) |
|
probably null |
Het |
| Esyt1 |
T |
C |
10: 128,347,354 (GRCm39) |
E1057G |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,818,793 (GRCm39) |
E4842G |
possibly damaging |
Het |
| Gadd45b |
G |
A |
10: 80,766,984 (GRCm39) |
V90I |
probably benign |
Het |
| Gfi1 |
T |
A |
5: 107,871,667 (GRCm39) |
H79L |
probably damaging |
Het |
| Golm2 |
T |
C |
2: 121,737,242 (GRCm39) |
V261A |
probably benign |
Het |
| Idh2 |
T |
C |
7: 79,748,001 (GRCm39) |
H233R |
probably benign |
Het |
| Itsn2 |
G |
A |
12: 4,714,553 (GRCm39) |
A950T |
probably benign |
Het |
| Kcna5 |
A |
G |
6: 126,510,517 (GRCm39) |
L537P |
probably benign |
Het |
| Krtap5-4 |
C |
T |
7: 141,857,671 (GRCm39) |
Q114* |
probably null |
Het |
| Loxl3 |
T |
C |
6: 83,027,790 (GRCm39) |
F734S |
possibly damaging |
Het |
| Lpcat1 |
C |
T |
13: 73,659,498 (GRCm39) |
T420I |
probably damaging |
Het |
| Lrch3 |
A |
T |
16: 32,826,083 (GRCm39) |
D720V |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,915,222 (GRCm39) |
D1622G |
possibly damaging |
Het |
| Meioc |
G |
C |
11: 102,567,569 (GRCm39) |
A788P |
probably damaging |
Het |
| Mmp1a |
A |
T |
9: 7,467,236 (GRCm39) |
T271S |
possibly damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,103,076 (GRCm39) |
D408V |
probably benign |
Het |
| Odf1 |
A |
G |
15: 38,226,840 (GRCm39) |
I247V |
unknown |
Het |
| Or14j5 |
A |
T |
17: 38,161,693 (GRCm39) |
D70V |
probably damaging |
Het |
| Or8k39 |
A |
G |
2: 86,563,848 (GRCm39) |
L36P |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,958 (GRCm39) |
S516P |
probably benign |
Het |
| Phactr3 |
A |
C |
2: 177,974,737 (GRCm39) |
R523S |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,294,293 (GRCm39) |
D1411G |
probably damaging |
Het |
| Ppcs |
A |
T |
4: 119,276,262 (GRCm39) |
S281T |
probably benign |
Het |
| Prkcg |
A |
G |
7: 3,362,708 (GRCm39) |
D294G |
probably benign |
Het |
| Psg28 |
T |
A |
7: 18,156,922 (GRCm39) |
I438L |
probably damaging |
Het |
| Pspc1 |
G |
A |
14: 57,009,304 (GRCm39) |
Q177* |
probably null |
Het |
| Rbm33 |
G |
A |
5: 28,599,606 (GRCm39) |
G185R |
|
Het |
| Rps6ka5 |
T |
C |
12: 100,544,048 (GRCm39) |
E350G |
probably damaging |
Het |
| Satb2 |
A |
G |
1: 56,910,917 (GRCm39) |
S243P |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,797,699 (GRCm39) |
|
probably null |
Het |
| Sgce |
T |
C |
6: 4,691,636 (GRCm39) |
D313G |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,433,794 (GRCm39) |
V486I |
probably damaging |
Het |
| Stxbp5 |
A |
G |
10: 9,692,046 (GRCm39) |
V366A |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,061,687 (GRCm39) |
S2610P |
possibly damaging |
Het |
| Tlr3 |
G |
A |
8: 45,853,819 (GRCm39) |
T167M |
not run |
Het |
| Tmem200a |
A |
G |
10: 25,869,904 (GRCm39) |
S122P |
probably damaging |
Het |
| Tmprss15 |
C |
T |
16: 78,887,751 (GRCm39) |
V19M |
probably damaging |
Het |
| Tnks2 |
T |
A |
19: 36,829,901 (GRCm39) |
M194K |
probably benign |
Het |
| Trav14d-3-dv8 |
A |
C |
14: 53,316,224 (GRCm39) |
Q28P |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,634,106 (GRCm39) |
E700G |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,797 (GRCm39) |
I98L |
probably benign |
Het |
| Uso1 |
A |
T |
5: 92,314,439 (GRCm39) |
E115D |
probably benign |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,178 (GRCm39) |
V7A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCACTTTTAATGTTCAGGGG -3'
(R):5'- AGAGGTCAGCCCTTTACCTG -3'
Sequencing Primer
(F):5'- TCAGGGGGAATATCAGACATCATTC -3'
(R):5'- GTACGTACACCTGTCCCTAATGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation