Incidental Mutation 'R9606:Nrp1'
| ID |
723878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9606 (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 A
at 129229029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 836
(E836K)
|
| 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: E836K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: E836K
| 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: 99.1%
|
| 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 |
|---|
| 6430548M08Rik |
A |
G |
8: 120,880,706 (GRCm39) |
Y286C |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,587,455 (GRCm39) |
T1657A |
|
Het |
| Ccs |
A |
T |
19: 4,882,897 (GRCm39) |
D151E |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,509,133 (GRCm39) |
T295A |
|
Het |
| Chmp4c |
A |
T |
3: 10,432,222 (GRCm39) |
E44V |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,801,383 (GRCm39) |
K539* |
probably null |
Het |
| Dgkg |
T |
C |
16: 22,441,011 (GRCm39) |
M1V |
probably null |
Het |
| E2f2 |
T |
A |
4: 135,911,743 (GRCm39) |
Y251* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,180,093 (GRCm39) |
Y1416C |
probably damaging |
Het |
| Fgl2 |
T |
C |
5: 21,577,991 (GRCm39) |
S93P |
possibly damaging |
Het |
| Hivep3 |
C |
T |
4: 119,989,786 (GRCm39) |
T2079I |
probably damaging |
Het |
| Igfl3 |
A |
C |
7: 17,913,920 (GRCm39) |
K90T |
possibly damaging |
Het |
| Lsamp |
A |
G |
16: 41,709,292 (GRCm39) |
D74G |
probably benign |
Het |
| Mmrn2 |
C |
A |
14: 34,119,654 (GRCm39) |
T211K |
possibly damaging |
Het |
| Mov10 |
A |
T |
3: 104,707,664 (GRCm39) |
V570D |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,313,517 (GRCm39) |
Y916F |
probably benign |
Het |
| Myo10 |
CAGGTATAAAG |
CAG |
15: 25,776,401 (GRCm39) |
|
probably null |
Het |
| Ndc1 |
T |
A |
4: 107,246,686 (GRCm39) |
C370S |
probably damaging |
Het |
| Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
| Nrcam |
A |
T |
12: 44,609,240 (GRCm39) |
N455I |
probably damaging |
Het |
| Or2t29 |
C |
T |
11: 58,433,753 (GRCm39) |
C196Y |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,943 (GRCm39) |
K79* |
probably null |
Het |
| Or6c216 |
A |
T |
10: 129,678,625 (GRCm39) |
C95* |
probably null |
Het |
| Or8b1d |
A |
G |
9: 38,558,620 (GRCm39) |
S67P |
probably damaging |
Het |
| Pcca |
T |
C |
14: 122,901,717 (GRCm39) |
S287P |
probably damaging |
Het |
| Pitpnm3 |
T |
A |
11: 71,955,069 (GRCm39) |
T482S |
probably benign |
Het |
| Pld2 |
C |
T |
11: 70,445,893 (GRCm39) |
R676* |
probably null |
Het |
| Ppm1k |
T |
C |
6: 57,491,057 (GRCm39) |
Y286C |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,517,573 (GRCm39) |
N278D |
probably damaging |
Het |
| Sema3g |
T |
C |
14: 30,943,783 (GRCm39) |
L221P |
probably damaging |
Het |
| Skint2 |
C |
T |
4: 112,483,147 (GRCm39) |
T184I |
probably benign |
Het |
| Slc38a2 |
A |
G |
15: 96,591,172 (GRCm39) |
F232S |
probably damaging |
Het |
| Snx6 |
T |
C |
12: 54,814,811 (GRCm39) |
N170S |
probably benign |
Het |
| Sox9 |
T |
A |
11: 112,673,416 (GRCm39) |
N2K |
probably damaging |
Het |
| Sp140l1 |
G |
C |
1: 85,075,344 (GRCm39) |
|
probably null |
Het |
| Srpk2 |
T |
C |
5: 23,729,604 (GRCm39) |
E345G |
probably benign |
Het |
| Tbc1d21 |
T |
C |
9: 58,268,487 (GRCm39) |
M291V |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,218,693 (GRCm39) |
N20S |
probably benign |
Het |
| Tnxb |
T |
G |
17: 34,914,578 (GRCm39) |
I1888S |
possibly damaging |
Het |
| Tsnaxip1 |
G |
A |
8: 106,566,685 (GRCm39) |
E174K |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,433,140 (GRCm39) |
R2058Q |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ttyh2 |
T |
A |
11: 114,601,667 (GRCm39) |
D430E |
probably benign |
Het |
| Ubr2 |
C |
T |
17: 47,245,020 (GRCm39) |
G1669R |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,853,491 (GRCm39) |
S490T |
probably damaging |
Het |
| Vmn1r86 |
T |
A |
7: 12,836,741 (GRCm39) |
D45V |
probably damaging |
Het |
| Wdr12 |
A |
G |
1: 60,127,226 (GRCm39) |
V143A |
possibly damaging |
Het |
| Zbtb18 |
T |
A |
1: 177,274,989 (GRCm39) |
Y116* |
probably null |
Het |
| Zdbf2 |
C |
T |
1: 63,342,536 (GRCm39) |
T305I |
possibly damaging |
Het |
| Zfp384 |
T |
A |
6: 125,007,802 (GRCm39) |
M244K |
possibly damaging |
Het |
| Zfp423 |
A |
T |
8: 88,414,595 (GRCm39) |
V1241D |
probably damaging |
Het |
| Zfp574 |
A |
G |
7: 24,780,640 (GRCm39) |
Y554C |
probably damaging |
Het |
| Zfp616 |
T |
C |
11: 73,976,220 (GRCm39) |
S830P |
probably damaging |
Het |
| Zfp839 |
A |
G |
12: 110,834,776 (GRCm39) |
Y677C |
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 |
|
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 |
|
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'- ACTATAAACACATCTGTCAGCCTAGAG -3'
(R):5'- GCCTTCACGCCTCTGAGTAATTAC -3'
Sequencing Primer
(F):5'- CTGTCAGCCTAGAGTGATTTAGAC -3'
(R):5'- CAAAGTTATAGTTCTCCAGGGCAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation