Incidental Mutation 'R7025:Nrp1'
| ID |
545913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
045126-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7025 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 129207435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 610
(C610F)
|
| 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 damaging
Transcript: ENSMUST00000026917
AA Change: C610F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: C610F
| 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: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd4 |
T |
A |
11: 102,995,364 (GRCm39) |
L90M |
probably damaging |
Het |
| Acot7 |
T |
C |
4: 152,262,646 (GRCm39) |
S7P |
unknown |
Het |
| Ahcyl2 |
T |
C |
6: 29,908,420 (GRCm39) |
Y388H |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,112,117 (GRCm39) |
R593* |
probably null |
Het |
| Bicral |
T |
C |
17: 47,112,594 (GRCm39) |
T869A |
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,463,943 (GRCm39) |
P1236S |
probably benign |
Het |
| Cacna2d1 |
C |
T |
5: 16,557,666 (GRCm39) |
Q699* |
probably null |
Het |
| Ccser2 |
T |
C |
14: 36,661,964 (GRCm39) |
N407D |
probably damaging |
Het |
| Cd300lg |
A |
G |
11: 101,933,900 (GRCm39) |
Y49C |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,358,900 (GRCm39) |
T108K |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,440,950 (GRCm39) |
I715K |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,659,419 (GRCm39) |
D137V |
probably damaging |
Het |
| Dbr1 |
A |
G |
9: 99,458,036 (GRCm39) |
T19A |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,629,233 (GRCm39) |
A1441T |
possibly damaging |
Het |
| Dpt |
G |
A |
1: 164,624,508 (GRCm39) |
D70N |
probably damaging |
Het |
| Elk4 |
C |
A |
1: 131,947,107 (GRCm39) |
P366Q |
probably damaging |
Het |
| Eml4 |
A |
C |
17: 83,732,740 (GRCm39) |
D131A |
probably benign |
Het |
| Faap24 |
A |
G |
7: 35,092,296 (GRCm39) |
I207T |
possibly damaging |
Het |
| Fam219a |
T |
C |
4: 41,521,925 (GRCm39) |
S41G |
probably benign |
Het |
| Gask1b |
T |
C |
3: 79,793,855 (GRCm39) |
Y108H |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,755,951 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,408,504 (GRCm39) |
V295A |
probably benign |
Het |
| Kif2a |
A |
G |
13: 107,119,102 (GRCm39) |
Y267H |
probably damaging |
Het |
| Kprp |
T |
A |
3: 92,732,504 (GRCm39) |
Q182L |
probably benign |
Het |
| Krt90 |
T |
C |
15: 101,465,610 (GRCm39) |
K337R |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,313,372 (GRCm39) |
Y2453F |
possibly damaging |
Het |
| Magel2 |
A |
C |
7: 62,029,535 (GRCm39) |
Y813S |
unknown |
Het |
| Myh7 |
C |
A |
14: 55,212,101 (GRCm39) |
E1548* |
probably null |
Het |
| Myh8 |
A |
G |
11: 67,188,365 (GRCm39) |
T1009A |
probably benign |
Het |
| Nab2 |
T |
A |
10: 127,502,377 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,186,285 (GRCm39) |
D929G |
possibly damaging |
Het |
| Nelfb |
A |
C |
2: 25,100,505 (GRCm39) |
V155G |
probably damaging |
Het |
| Nmur1 |
C |
A |
1: 86,315,570 (GRCm39) |
M65I |
possibly damaging |
Het |
| Nop56 |
C |
T |
2: 130,119,801 (GRCm39) |
R81* |
probably null |
Het |
| Npnt |
C |
T |
3: 132,614,157 (GRCm39) |
C47Y |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,357,948 (GRCm39) |
I269F |
probably damaging |
Het |
| Or5d45 |
T |
C |
2: 88,153,606 (GRCm39) |
K148E |
probably damaging |
Het |
| Or6c63-ps1 |
T |
A |
10: 128,900,544 (GRCm39) |
M1L |
probably benign |
Het |
| Pax5 |
G |
A |
4: 44,679,501 (GRCm39) |
Q93* |
probably null |
Het |
| Pcnt |
G |
T |
10: 76,239,669 (GRCm39) |
Q1273K |
probably damaging |
Het |
| Pde4dip |
G |
A |
3: 97,631,499 (GRCm39) |
Q1137* |
probably null |
Het |
| Pfas |
A |
T |
11: 68,881,586 (GRCm39) |
D959E |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,824,261 (GRCm39) |
K629* |
probably null |
Het |
| Prex1 |
TCCGACCCC |
TCCGACCCCGACCCC |
2: 166,455,107 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,204,281 (GRCm39) |
Q182* |
probably null |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rpe65 |
A |
C |
3: 159,328,322 (GRCm39) |
E406A |
probably damaging |
Het |
| Serpina3k |
A |
T |
12: 104,307,401 (GRCm39) |
Y211F |
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,054,706 (GRCm39) |
I65V |
possibly damaging |
Het |
| Slc22a29 |
G |
A |
19: 8,137,944 (GRCm39) |
P544S |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,686,701 (GRCm39) |
D2281G |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,110,052 (GRCm39) |
M64T |
probably benign |
Het |
| Tnfrsf8 |
C |
T |
4: 145,000,973 (GRCm39) |
V378I |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 63,876,462 (GRCm39) |
|
probably null |
Het |
| Ubqln3 |
A |
G |
7: 103,790,482 (GRCm39) |
I536T |
probably benign |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,736 (GRCm39) |
T161A |
possibly damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,345 (GRCm39) |
I393F |
possibly 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 |
|
|
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 |
|
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'- TCAGGAGTATTCCCGAGAGAGG -3'
(R):5'- CAGCCACCAGGAGTAATTGG -3'
Sequencing Primer
(F):5'- AGAGGCGGAACATGTCCCTG -3'
(R):5'- CAGCCACCAGGAGTAATTGGTTTAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation