Incidental Mutation 'R5509:Nrp1'
| ID |
431077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
043070-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5509 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129152396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 202
(G202R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026917]
|
| AlphaFold |
P97333 |
| PDB Structure |
Mouse Neuropilin-1, extracellular domains 1-4 (a1a2b1b2) [X-RAY DIFFRACTION]
Complex of mouse Plexin A2 - Semaphorin 3A - Neuropilin-1 [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026917
AA Change: G202R
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: G202R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CUB
|
27 |
141 |
1.44e-43 |
SMART |
|
CUB
|
147 |
265 |
9.19e-42 |
SMART |
|
FA58C
|
274 |
424 |
5.21e-44 |
SMART |
|
FA58C
|
430 |
583 |
4.15e-20 |
SMART |
|
low complexity region
|
587 |
599 |
N/A |
INTRINSIC |
|
MAM
|
645 |
811 |
4.94e-69 |
SMART |
|
Pfam:DUF3481
|
837 |
920 |
3.5e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212933
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning. [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 |
|---|
| Abcc10 |
G |
C |
17: 46,635,185 (GRCm39) |
Q273E |
probably benign |
Het |
| Acly |
C |
T |
11: 100,405,805 (GRCm39) |
R329Q |
probably damaging |
Het |
| Acsm2 |
T |
C |
7: 119,172,840 (GRCm39) |
S152P |
probably damaging |
Het |
| Adamtsl4 |
A |
T |
3: 95,588,667 (GRCm39) |
I515N |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,481,857 (GRCm39) |
D879G |
probably damaging |
Het |
| Bmp8b |
G |
A |
4: 123,008,369 (GRCm39) |
D112N |
possibly damaging |
Het |
| Camk2d |
T |
C |
3: 126,633,965 (GRCm39) |
W496R |
probably damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
| Cflar |
T |
C |
1: 58,791,551 (GRCm39) |
F285L |
probably benign |
Het |
| Cox16 |
T |
C |
12: 81,519,032 (GRCm39) |
T176A |
probably benign |
Het |
| Cux1 |
G |
T |
5: 136,304,171 (GRCm39) |
A1214D |
probably benign |
Het |
| Cyb5d1 |
C |
A |
11: 69,284,561 (GRCm39) |
|
probably null |
Het |
| Dennd6b |
G |
A |
15: 89,069,225 (GRCm39) |
P575S |
probably damaging |
Het |
| Fbxl2 |
A |
T |
9: 113,814,415 (GRCm39) |
|
probably null |
Het |
| Gfpt2 |
T |
C |
11: 49,717,973 (GRCm39) |
F483L |
possibly damaging |
Het |
| Glrx3 |
T |
C |
7: 137,046,751 (GRCm39) |
C48R |
probably damaging |
Het |
| Invs |
G |
A |
4: 48,396,337 (GRCm39) |
V281M |
probably damaging |
Het |
| Kif13a |
G |
A |
13: 46,905,591 (GRCm39) |
A784V |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,737,557 (GRCm39) |
|
probably benign |
Het |
| Lmod2 |
A |
G |
6: 24,603,888 (GRCm39) |
T288A |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,391,361 (GRCm39) |
K1355E |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,922,818 (GRCm39) |
S1300T |
probably benign |
Het |
| Mdm2 |
A |
C |
10: 117,526,517 (GRCm39) |
D307E |
probably damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Mroh4 |
T |
C |
15: 74,478,003 (GRCm39) |
Y901C |
probably benign |
Het |
| Mtmr14 |
G |
T |
6: 113,230,768 (GRCm39) |
|
probably null |
Het |
| Mug2 |
A |
T |
6: 122,061,340 (GRCm39) |
Q1420L |
possibly damaging |
Het |
| Net1 |
T |
C |
13: 3,934,320 (GRCm39) |
Q459R |
probably benign |
Het |
| Nle1 |
T |
C |
11: 82,794,008 (GRCm39) |
R343G |
possibly damaging |
Het |
| Npat |
C |
A |
9: 53,481,542 (GRCm39) |
N1083K |
probably benign |
Het |
| Nsun4 |
C |
T |
4: 115,908,974 (GRCm39) |
V529I |
possibly damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,236 (GRCm39) |
L82F |
probably damaging |
Het |
| Or4z4 |
T |
A |
19: 12,076,341 (GRCm39) |
I221F |
possibly damaging |
Het |
| Or5b117 |
A |
T |
19: 13,431,332 (GRCm39) |
L183Q |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,924 (GRCm39) |
D269G |
probably benign |
Het |
| Podxl |
A |
T |
6: 31,503,548 (GRCm39) |
N264K |
probably benign |
Het |
| Ptprm |
C |
T |
17: 66,996,353 (GRCm39) |
A1245T |
probably damaging |
Het |
| Rdh12 |
T |
A |
12: 79,257,558 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,760,487 (GRCm39) |
Y1532F |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 21,859,272 (GRCm39) |
F441S |
probably damaging |
Het |
| Snap23 |
C |
A |
2: 120,425,346 (GRCm39) |
P111T |
probably benign |
Het |
| Sox2 |
A |
G |
3: 34,704,938 (GRCm39) |
D125G |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,968,018 (GRCm39) |
W923R |
probably damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,101,022 (GRCm39) |
E656G |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,492,838 (GRCm39) |
T892A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,699,142 (GRCm39) |
I24V |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,964,622 (GRCm39) |
K1372N |
probably damaging |
Het |
| Ubc |
A |
T |
5: 125,464,339 (GRCm39) |
N329K |
probably benign |
Het |
| Vmn2r106 |
T |
A |
17: 20,498,684 (GRCm39) |
H409L |
probably damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,009,314 (GRCm39) |
N2751Y |
possibly damaging |
Het |
| Zfp518a |
T |
A |
19: 40,903,845 (GRCm39) |
I1258K |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,756,451 (GRCm39) |
E131G |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,293,295 (GRCm39) |
R2027W |
probably damaging |
Het |
|
| Other mutations in Nrp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Nrp1
|
APN |
8 |
129,202,688 (GRCm39) |
missense |
probably benign |
|
|
IGL01412:Nrp1
|
APN |
8 |
129,145,188 (GRCm39) |
splice site |
probably benign |
|
|
IGL01586:Nrp1
|
APN |
8 |
129,158,513 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02307:Nrp1
|
APN |
8 |
129,229,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02500:Nrp1
|
APN |
8 |
129,152,280 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02547:Nrp1
|
APN |
8 |
129,219,512 (GRCm39) |
missense |
probably benign |
|
|
R0046:Nrp1
|
UTSW |
8 |
129,227,089 (GRCm39) |
splice site |
probably benign |
|
|
R0281:Nrp1
|
UTSW |
8 |
129,187,164 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0403:Nrp1
|
UTSW |
8 |
129,184,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Nrp1
|
UTSW |
8 |
129,229,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1055:Nrp1
|
UTSW |
8 |
129,195,079 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1229:Nrp1
|
UTSW |
8 |
129,145,197 (GRCm39) |
nonsense |
probably null |
|
|
R1263:Nrp1
|
UTSW |
8 |
129,194,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1340:Nrp1
|
UTSW |
8 |
129,160,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1397:Nrp1
|
UTSW |
8 |
129,145,197 (GRCm39) |
nonsense |
probably null |
|
|
R1462:Nrp1
|
UTSW |
8 |
129,229,279 (GRCm39) |
missense |
probably benign |
|
|
R1462:Nrp1
|
UTSW |
8 |
129,229,279 (GRCm39) |
missense |
probably benign |
|
|
R1531:Nrp1
|
UTSW |
8 |
129,152,450 (GRCm39) |
missense |
probably null |
0.19 |
|
R1587:Nrp1
|
UTSW |
8 |
129,202,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Nrp1
|
UTSW |
8 |
129,152,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1733:Nrp1
|
UTSW |
8 |
129,194,974 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1785:Nrp1
|
UTSW |
8 |
129,224,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Nrp1
|
UTSW |
8 |
129,224,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2047:Nrp1
|
UTSW |
8 |
129,224,577 (GRCm39) |
splice site |
probably benign |
|
|
R2130:Nrp1
|
UTSW |
8 |
129,224,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Nrp1
|
UTSW |
8 |
129,224,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Nrp1
|
UTSW |
8 |
129,224,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Nrp1
|
UTSW |
8 |
129,224,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2338:Nrp1
|
UTSW |
8 |
129,224,385 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2407:Nrp1
|
UTSW |
8 |
129,158,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3405:Nrp1
|
UTSW |
8 |
129,224,569 (GRCm39) |
nonsense |
probably null |
|
|
R3748:Nrp1
|
UTSW |
8 |
129,184,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4347:Nrp1
|
UTSW |
8 |
129,207,472 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4379:Nrp1
|
UTSW |
8 |
129,194,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Nrp1
|
UTSW |
8 |
129,184,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4688:Nrp1
|
UTSW |
8 |
129,229,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4916:Nrp1
|
UTSW |
8 |
129,229,285 (GRCm39) |
nonsense |
probably null |
|
|
R5077:Nrp1
|
UTSW |
8 |
129,227,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5301:Nrp1
|
UTSW |
8 |
129,160,678 (GRCm39) |
splice site |
probably null |
|
|
R5745:Nrp1
|
UTSW |
8 |
129,194,929 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5873:Nrp1
|
UTSW |
8 |
129,194,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5987:Nrp1
|
UTSW |
8 |
129,202,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6060:Nrp1
|
UTSW |
8 |
129,224,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6757:Nrp1
|
UTSW |
8 |
129,152,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6889:Nrp1
|
UTSW |
8 |
129,219,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7025:Nrp1
|
UTSW |
8 |
129,207,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Nrp1
|
UTSW |
8 |
129,187,193 (GRCm39) |
missense |
probably benign |
|
|
R7290:Nrp1
|
UTSW |
8 |
129,202,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7369:Nrp1
|
UTSW |
8 |
129,158,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Nrp1
|
UTSW |
8 |
129,158,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Nrp1
|
UTSW |
8 |
129,224,495 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8043:Nrp1
|
UTSW |
8 |
129,158,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8088:Nrp1
|
UTSW |
8 |
129,194,997 (GRCm39) |
nonsense |
probably null |
|
|
R8193:Nrp1
|
UTSW |
8 |
129,187,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8206:Nrp1
|
UTSW |
8 |
129,184,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8245:Nrp1
|
UTSW |
8 |
129,214,434 (GRCm39) |
missense |
probably benign |
|
|
R8684:Nrp1
|
UTSW |
8 |
129,085,885 (GRCm39) |
start gained |
probably benign |
|
|
R8734:Nrp1
|
UTSW |
8 |
129,207,420 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8875:Nrp1
|
UTSW |
8 |
129,207,472 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9054:Nrp1
|
UTSW |
8 |
129,214,389 (GRCm39) |
missense |
probably benign |
|
|
R9253:Nrp1
|
UTSW |
8 |
129,229,144 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9301:Nrp1
|
UTSW |
8 |
129,089,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9437:Nrp1
|
UTSW |
8 |
129,187,108 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9606:Nrp1
|
UTSW |
8 |
129,229,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9607:Nrp1
|
UTSW |
8 |
129,152,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9691:Nrp1
|
UTSW |
8 |
129,202,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Nrp1
|
UTSW |
8 |
129,187,126 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1186:Nrp1
|
UTSW |
8 |
129,224,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1189:Nrp1
|
UTSW |
8 |
129,224,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Nrp1
|
UTSW |
8 |
129,224,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCGAATGTTCTCAGAAC -3'
(R):5'- CAGACTCCATTGCCTGTGTACAC -3'
Sequencing Primer
(F):5'- CTATACAGCACCTACTGGAGTG -3'
(R):5'- CCGTAGTTGGGAAAGCCTTTTTAATC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation