Incidental Mutation 'R7065:Nrp1'
| ID |
548521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
045161-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7065 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 129187193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 413
(T413N)
|
| 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 |
probably benign
Transcript: ENSMUST00000026917
AA Change: T413N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: T413N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
T |
4: 53,074,233 (GRCm39) |
S1150Y |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,242,595 (GRCm39) |
V1486E |
probably benign |
Het |
| Abca17 |
T |
A |
17: 24,546,725 (GRCm39) |
Y292F |
probably damaging |
Het |
| Adam3 |
A |
G |
8: 25,201,691 (GRCm39) |
|
probably null |
Het |
| Ankmy2 |
G |
A |
12: 36,237,707 (GRCm39) |
E269K |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,549,402 (GRCm39) |
S1201P |
probably benign |
Het |
| Cep57 |
T |
C |
9: 13,729,677 (GRCm39) |
Y122C |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,014,140 (GRCm39) |
Y1210F |
probably damaging |
Het |
| Cflar |
T |
G |
1: 58,770,368 (GRCm39) |
L154V |
probably damaging |
Het |
| Chmp4b |
A |
G |
2: 154,533,162 (GRCm39) |
D134G |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,580 (GRCm39) |
F14S |
possibly damaging |
Het |
| Ctnna1 |
A |
T |
18: 35,285,669 (GRCm39) |
H5L |
probably benign |
Het |
| Cyp2e1 |
T |
A |
7: 140,343,906 (GRCm39) |
L48Q |
probably damaging |
Het |
| Dnah6 |
T |
G |
6: 73,064,545 (GRCm39) |
Q2627P |
possibly damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,730,709 (GRCm39) |
D569G |
probably damaging |
Het |
| Frmd4a |
G |
A |
2: 4,570,923 (GRCm39) |
|
|
Het |
| Fryl |
T |
C |
5: 73,248,099 (GRCm39) |
D1006G |
probably damaging |
Het |
| Gclm |
A |
G |
3: 122,056,320 (GRCm39) |
N137D |
probably benign |
Het |
| Gk5 |
A |
G |
9: 96,061,109 (GRCm39) |
Y531C |
probably damaging |
Het |
| Gpm6a |
C |
A |
8: 55,490,493 (GRCm39) |
N56K |
probably benign |
Het |
| Grik4 |
A |
C |
9: 42,455,127 (GRCm39) |
V656G |
probably damaging |
Het |
| Grip2 |
C |
A |
6: 91,760,550 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
T |
C |
6: 136,697,764 (GRCm39) |
K636E |
probably damaging |
Het |
| Ifi44l |
A |
G |
3: 151,465,429 (GRCm39) |
I107T |
|
Het |
| Kif1b |
T |
C |
4: 149,286,982 (GRCm39) |
T1237A |
possibly damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,648,386 (GRCm39) |
D131G |
probably benign |
Het |
| Lipe |
A |
G |
7: 25,084,603 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
A |
G |
2: 91,341,925 (GRCm39) |
D1846G |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,985,402 (GRCm39) |
M1273K |
probably benign |
Het |
| Matn3 |
T |
A |
12: 9,002,472 (GRCm39) |
M228K |
probably damaging |
Het |
| Mterf4 |
T |
A |
1: 93,232,617 (GRCm39) |
H78L |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 31,894,857 (GRCm39) |
L128* |
probably null |
Het |
| Nedd4l |
A |
G |
18: 65,329,040 (GRCm39) |
N627S |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,575,858 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,919,189 (GRCm39) |
Y1279C |
probably damaging |
Het |
| Opn4 |
C |
A |
14: 34,317,834 (GRCm39) |
A267S |
probably benign |
Het |
| Or4c11c |
A |
T |
2: 88,661,730 (GRCm39) |
I90F |
probably damaging |
Het |
| Or5ak24 |
A |
G |
2: 85,260,523 (GRCm39) |
Y217H |
probably damaging |
Het |
| Or5al6 |
A |
C |
2: 85,976,345 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or5p78 |
G |
A |
7: 108,212,266 (GRCm39) |
V251I |
probably damaging |
Het |
| Pax3 |
T |
C |
1: 78,170,648 (GRCm39) |
|
probably null |
Het |
| Pcdha12 |
A |
G |
18: 37,154,679 (GRCm39) |
E466G |
probably damaging |
Het |
| Pdzk1 |
A |
G |
3: 96,775,748 (GRCm39) |
E372G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,227,565 (GRCm39) |
V243D |
possibly damaging |
Het |
| Pla2g5 |
C |
A |
4: 138,527,915 (GRCm39) |
C117F |
probably damaging |
Het |
| Ppt2 |
A |
G |
17: 34,841,829 (GRCm39) |
S236P |
probably damaging |
Het |
| Raver1 |
T |
C |
9: 21,001,590 (GRCm39) |
D81G |
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,378,650 (GRCm39) |
L525P |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,803,068 (GRCm39) |
E662G |
probably damaging |
Het |
| Scaf8 |
G |
A |
17: 3,209,486 (GRCm39) |
V66M |
probably damaging |
Het |
| Scn3a |
A |
C |
2: 65,295,199 (GRCm39) |
L1508R |
probably benign |
Het |
| Semp2l2b |
T |
C |
10: 21,943,197 (GRCm39) |
D261G |
probably benign |
Het |
| Slfn8 |
T |
C |
11: 82,907,794 (GRCm39) |
R250G |
probably benign |
Het |
| Speer4d |
A |
C |
5: 15,825,421 (GRCm39) |
T49P |
probably damaging |
Het |
| Spice1 |
T |
A |
16: 44,175,898 (GRCm39) |
D32E |
probably damaging |
Het |
| Stt3b |
A |
G |
9: 115,095,224 (GRCm39) |
L269P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,628,456 (GRCm39) |
I14568T |
possibly damaging |
Het |
| U2surp |
T |
C |
9: 95,367,712 (GRCm39) |
T413A |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,784,049 (GRCm39) |
E755G |
probably damaging |
Het |
| Unc5a |
A |
T |
13: 55,138,896 (GRCm39) |
S92C |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,052,969 (GRCm39) |
Y275C |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,590,401 (GRCm39) |
S428T |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 725,428 (GRCm39) |
V779A |
probably benign |
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 |
|
|
R5509:Nrp1
|
UTSW |
8 |
129,152,396 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
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 |
|
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'- GCATTTGTGGACAGCTTCAG -3'
(R):5'- CTACATTCAGTGTACAGGCCC -3'
Sequencing Primer
(F):5'- GACAGCTTCAGGGATTTGTTTC -3'
(R):5'- TGTGAAATGTTCCCCACAGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation