Incidental Mutation 'R8245:Nrp1'
| ID |
640821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
067673-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8245 (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 129214434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 641
(S641T)
|
| 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: S641T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: S641T
| 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 |
98% (63/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,539,870 (GRCm39) |
|
probably null |
Het |
| Adam4 |
A |
T |
12: 81,466,657 (GRCm39) |
C655S |
probably damaging |
Het |
| Adamts13 |
A |
C |
2: 26,880,568 (GRCm39) |
D717A |
probably damaging |
Het |
| Atf7ip2 |
A |
G |
16: 10,019,262 (GRCm39) |
N30S |
possibly damaging |
Het |
| Bmp8b |
T |
C |
4: 123,008,532 (GRCm39) |
V166A |
probably benign |
Het |
| Bpifb9a |
G |
A |
2: 154,104,646 (GRCm39) |
G261R |
probably benign |
Het |
| Cdipt |
G |
T |
7: 126,578,732 (GRCm39) |
M174I |
probably benign |
Het |
| Cep128 |
T |
C |
12: 90,966,419 (GRCm39) |
T1063A |
probably benign |
Het |
| Ciao1 |
A |
G |
2: 127,088,404 (GRCm39) |
Y140H |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,024,408 (GRCm39) |
S217P |
unknown |
Het |
| Cnot2 |
T |
A |
10: 116,346,294 (GRCm39) |
I103F |
probably benign |
Het |
| Col27a1 |
T |
G |
4: 63,144,040 (GRCm39) |
V576G |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,878,710 (GRCm39) |
H566Q |
probably benign |
Het |
| Dhrs2 |
T |
A |
14: 55,478,637 (GRCm39) |
C261S |
possibly damaging |
Het |
| Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,886,934 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,246,673 (GRCm39) |
F1293Y |
probably damaging |
Het |
| Fsip1 |
T |
A |
2: 118,075,359 (GRCm39) |
K218M |
unknown |
Het |
| Fsip2 |
G |
T |
2: 82,811,346 (GRCm39) |
S2555I |
possibly damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,714,785 (GRCm39) |
K358E |
probably benign |
Het |
| Gm9637 |
A |
T |
14: 19,402,598 (GRCm38) |
V1D |
noncoding transcript |
Het |
| H2-M10.6 |
T |
C |
17: 37,124,155 (GRCm39) |
|
probably null |
Het |
| Hand2 |
A |
G |
8: 57,774,994 (GRCm39) |
Y18C |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,879,895 (GRCm39) |
V607E |
probably damaging |
Het |
| Hps5 |
G |
A |
7: 46,418,485 (GRCm39) |
R862* |
probably null |
Het |
| Ildr1 |
A |
G |
16: 36,529,883 (GRCm39) |
D90G |
probably damaging |
Het |
| Ints12 |
A |
G |
3: 132,814,633 (GRCm39) |
N280S |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Itpr2 |
T |
A |
6: 146,274,604 (GRCm39) |
K859N |
probably damaging |
Het |
| Lhx9 |
G |
T |
1: 138,766,179 (GRCm39) |
A212D |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,162,229 (GRCm39) |
T322I |
unknown |
Het |
| Ndufaf4 |
A |
G |
4: 24,898,648 (GRCm39) |
D71G |
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,863,080 (GRCm39) |
N37I |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,913,066 (GRCm39) |
I271F |
|
Het |
| Or2ag16 |
T |
C |
7: 106,352,374 (GRCm39) |
T74A |
probably benign |
Het |
| Or4d2b |
G |
A |
11: 87,780,443 (GRCm39) |
S93F |
probably damaging |
Het |
| Or6c5b |
T |
C |
10: 129,245,975 (GRCm39) |
S247P |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,126 (GRCm39) |
Y168H |
probably benign |
Het |
| Or9g4b |
A |
G |
2: 85,616,119 (GRCm39) |
E88G |
probably benign |
Het |
| Oxa1l |
T |
C |
14: 54,605,274 (GRCm39) |
S317P |
probably damaging |
Het |
| Poglut2 |
A |
T |
1: 44,156,226 (GRCm39) |
H120Q |
probably benign |
Het |
| Polr2a |
C |
T |
11: 69,630,779 (GRCm39) |
R1213H |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,283,468 (GRCm39) |
S516C |
probably null |
Het |
| Rabep2 |
A |
G |
7: 126,039,580 (GRCm39) |
T336A |
possibly damaging |
Het |
| Ralgapb |
G |
A |
2: 158,285,256 (GRCm39) |
C585Y |
probably damaging |
Het |
| Rexo4 |
A |
G |
2: 26,850,350 (GRCm39) |
S276P |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCTGCGGCGGC |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,099,789 (GRCm39) |
L160P |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,256,492 (GRCm39) |
F419S |
probably benign |
Het |
| Stag1 |
C |
A |
9: 100,811,946 (GRCm39) |
T808K |
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,604,931 (GRCm39) |
N201K |
possibly damaging |
Het |
| Stat1 |
G |
A |
1: 52,194,178 (GRCm39) |
R704Q |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,331,303 (GRCm39) |
D2236G |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,379,592 (GRCm39) |
Y944F |
|
Het |
| Tmem225 |
G |
T |
9: 40,061,955 (GRCm39) |
V190F |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,521,022 (GRCm39) |
V400D |
probably benign |
Het |
| Tpp2 |
G |
A |
1: 44,022,712 (GRCm39) |
G971D |
probably damaging |
Het |
| Trh |
C |
T |
6: 92,220,050 (GRCm39) |
V89I |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,717,205 (GRCm39) |
D404G |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,204,645 (GRCm39) |
V990A |
probably damaging |
Het |
| Vmn1r179 |
T |
A |
7: 23,628,396 (GRCm39) |
Y196N |
possibly damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,945,936 (GRCm39) |
D557G |
probably damaging |
Het |
| Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
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 |
|
|
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 |
|
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 |
|
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'- TCAAATGTGATTGGTCCTGGAAGG -3'
(R):5'- TAGCTGGGACATGTCATTCAGC -3'
Sequencing Primer
(F):5'- AGGAACTAAAGTAAGAGTTTTCTGTG -3'
(R):5'- TCAGCAATGACTGATGAGGAAG -3'
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| Posted On |
2020-07-28 |
Incidental Mutation