Incidental Mutation 'R7650:Nrp1'
| ID |
590763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
045727-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7650 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129224495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 753
(W753R)
|
| 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: W753R
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: W753R
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (80/80) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002J24Rik |
G |
A |
7: 30,399,214 (GRCm39) |
V3I |
probably benign |
Het |
| Adam33 |
T |
C |
2: 130,903,067 (GRCm39) |
E59G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,293,202 (GRCm39) |
V45E |
probably benign |
Het |
| Ap1s1 |
A |
G |
5: 137,074,387 (GRCm39) |
S28P |
probably benign |
Het |
| Btnl2 |
T |
C |
17: 34,577,103 (GRCm39) |
L86P |
probably damaging |
Het |
| Carm1 |
G |
A |
9: 21,491,668 (GRCm39) |
V246I |
probably benign |
Het |
| Cdk5rap1 |
C |
T |
2: 154,196,036 (GRCm39) |
D283N |
probably benign |
Het |
| Cfap58 |
C |
A |
19: 47,974,967 (GRCm39) |
N709K |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,020,214 (GRCm39) |
D195G |
probably benign |
Het |
| Dcaf1 |
A |
G |
9: 106,715,543 (GRCm39) |
D220G |
probably benign |
Het |
| Ddias |
C |
T |
7: 92,508,143 (GRCm39) |
G591R |
probably benign |
Het |
| Defb22 |
A |
T |
2: 152,328,023 (GRCm39) |
I54K |
probably benign |
Het |
| Dennd4b |
G |
A |
3: 90,176,056 (GRCm39) |
W202* |
probably null |
Het |
| F2 |
T |
C |
2: 91,458,741 (GRCm39) |
N523S |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,837,788 (GRCm39) |
Y2819H |
unknown |
Het |
| Fanca |
A |
T |
8: 123,995,303 (GRCm39) |
|
probably null |
Het |
| Fezf2 |
T |
C |
14: 12,342,653 (GRCm38) |
H404R |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,336,883 (GRCm39) |
N1418S |
probably damaging |
Het |
| Gak |
A |
G |
5: 108,732,161 (GRCm39) |
S776P |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,260,978 (GRCm39) |
H1181R |
probably damaging |
Het |
| Gdf9 |
G |
A |
11: 53,327,925 (GRCm39) |
E294K |
probably benign |
Het |
| Gje1 |
G |
A |
10: 14,592,168 (GRCm39) |
R205* |
probably null |
Het |
| Gm8206 |
T |
C |
14: 6,055,211 (GRCm38) |
|
probably null |
Het |
| Gpr162 |
T |
A |
6: 124,838,806 (GRCm39) |
|
probably benign |
Het |
| Gxylt1 |
C |
T |
15: 93,143,539 (GRCm39) |
R363H |
probably benign |
Het |
| Hnrnph1 |
A |
T |
11: 50,274,726 (GRCm39) |
M396L |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
| Ice1 |
T |
A |
13: 70,753,602 (GRCm39) |
Q828L |
probably damaging |
Het |
| Ift56 |
T |
A |
6: 38,371,975 (GRCm39) |
N188K |
probably benign |
Het |
| Il10 |
A |
T |
1: 130,949,192 (GRCm39) |
T118S |
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,135,492 (GRCm39) |
R1813Q |
probably benign |
Het |
| Kbtbd12 |
T |
A |
6: 88,595,530 (GRCm39) |
Q100L |
probably damaging |
Het |
| Kin |
A |
G |
2: 10,096,979 (GRCm39) |
D276G |
possibly damaging |
Het |
| Klhl1 |
T |
C |
14: 96,584,379 (GRCm39) |
T284A |
probably damaging |
Het |
| Kmt2d |
C |
T |
15: 98,748,751 (GRCm39) |
A2858T |
unknown |
Het |
| Krt8 |
G |
A |
15: 101,912,598 (GRCm39) |
T26M |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,670,895 (GRCm39) |
M827K |
probably benign |
Het |
| Lingo3 |
T |
C |
10: 80,671,597 (GRCm39) |
N111S |
probably damaging |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Metap1 |
A |
G |
3: 138,172,128 (GRCm39) |
V263A |
probably damaging |
Het |
| Msantd5 |
G |
A |
11: 51,125,613 (GRCm39) |
E179K |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,363,159 (GRCm39) |
T2157A |
unknown |
Het |
| Myo1d |
G |
T |
11: 80,492,510 (GRCm39) |
H748Q |
probably benign |
Het |
| Nfkbiz |
A |
T |
16: 55,638,202 (GRCm39) |
N419K |
probably benign |
Het |
| Nol10 |
T |
C |
12: 17,412,683 (GRCm39) |
|
probably null |
Het |
| Nrcam |
T |
C |
12: 44,594,105 (GRCm39) |
L284P |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,951,820 (GRCm39) |
S3978P |
probably benign |
Het |
| Opa3 |
C |
A |
7: 18,978,896 (GRCm39) |
N120K |
probably benign |
Het |
| Or5k17 |
T |
A |
16: 58,746,416 (GRCm39) |
R173* |
probably null |
Het |
| Or8g53 |
A |
T |
9: 39,683,169 (GRCm39) |
F309Y |
probably benign |
Het |
| Pabpc1l |
T |
C |
2: 163,891,510 (GRCm39) |
L576S |
probably benign |
Het |
| Panx3 |
A |
G |
9: 37,572,701 (GRCm39) |
L283S |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,442,667 (GRCm39) |
V659E |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,606,423 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
T |
C |
8: 110,399,217 (GRCm39) |
V2200A |
probably benign |
Het |
| Pkp3 |
G |
A |
7: 140,662,283 (GRCm39) |
M112I |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,220,078 (GRCm39) |
I683T |
possibly damaging |
Het |
| Psg22 |
C |
A |
7: 18,460,684 (GRCm39) |
Q438K |
possibly damaging |
Het |
| Ptgir |
T |
C |
7: 16,640,876 (GRCm39) |
V56A |
possibly damaging |
Het |
| Pus7 |
G |
T |
5: 23,965,244 (GRCm39) |
T304K |
probably damaging |
Het |
| Rab38 |
T |
C |
7: 88,079,637 (GRCm39) |
Y10H |
possibly damaging |
Het |
| Ros1 |
C |
T |
10: 51,922,305 (GRCm39) |
G2277D |
probably benign |
Het |
| Rpain |
A |
T |
11: 70,861,271 (GRCm39) |
|
probably benign |
Het |
| Shh |
C |
A |
5: 28,663,304 (GRCm39) |
S288I |
probably benign |
Het |
| Slc26a5 |
C |
T |
5: 22,039,328 (GRCm39) |
V259M |
possibly damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,618,363 (GRCm39) |
N771I |
probably damaging |
Het |
| Stim1 |
T |
A |
7: 102,078,034 (GRCm39) |
S179T |
|
Het |
| Syk |
A |
G |
13: 52,765,131 (GRCm39) |
D86G |
probably benign |
Het |
| Tmem132b |
T |
G |
5: 125,864,074 (GRCm39) |
S727A |
probably benign |
Het |
| Trim42 |
T |
A |
9: 97,245,201 (GRCm39) |
Y533F |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,853,377 (GRCm39) |
D1799V |
possibly damaging |
Het |
| Ube4a |
A |
T |
9: 44,844,734 (GRCm39) |
I839N |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,228,831 (GRCm39) |
I404T |
probably damaging |
Het |
| Ushbp1 |
T |
A |
8: 71,843,568 (GRCm39) |
Q290L |
possibly damaging |
Het |
| Vcl |
T |
A |
14: 21,045,114 (GRCm39) |
I273K |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,521,147 (GRCm39) |
I274L |
probably benign |
Het |
| Zc3h7b |
A |
G |
15: 81,677,851 (GRCm39) |
D945G |
possibly damaging |
Het |
| Zfp454 |
A |
G |
11: 50,774,580 (GRCm39) |
L31P |
probably damaging |
Het |
| Zfp536 |
C |
A |
7: 37,269,117 (GRCm39) |
V100L |
probably damaging |
Het |
| Zfp942 |
A |
T |
17: 22,147,818 (GRCm39) |
S270R |
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 |
|
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 |
|
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'- GACACACAGTTTTGCCTCAGC -3'
(R):5'- GTGGGATATGTCACCAACCC -3'
Sequencing Primer
(F):5'- TCAGCAGGAGATGGCAACTTCATC -3'
(R):5'- CCCAAACATTATGGAGGCAAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation