Incidental Mutation 'R9646:Nrp2'
ID |
726696 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrp2
|
Ensembl Gene |
ENSMUSG00000025969 |
Gene Name |
neuropilin 2 |
Synonyms |
1110048P06Rik, NP-2, Npn-2, NP2, Npn2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R9646 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
62742476-62857851 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62777566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 124
(F124L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027112]
[ENSMUST00000063594]
[ENSMUST00000075144]
[ENSMUST00000102822]
[ENSMUST00000114155]
[ENSMUST00000114157]
|
AlphaFold |
O35375 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027112
AA Change: F124L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000027112 Gene: ENSMUSG00000025969 AA Change: F124L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CUB
|
28 |
142 |
3.4e-45 |
SMART |
CUB
|
149 |
267 |
1.04e-40 |
SMART |
FA58C
|
276 |
427 |
1.63e-45 |
SMART |
FA58C
|
433 |
592 |
9.33e-14 |
SMART |
MAM
|
641 |
802 |
2.31e-60 |
SMART |
Pfam:DUF3481
|
822 |
906 |
1.4e-35 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063594
AA Change: F124L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069379 Gene: ENSMUSG00000025969 AA Change: F124L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CUB
|
28 |
142 |
3.4e-45 |
SMART |
CUB
|
149 |
267 |
1.04e-40 |
SMART |
FA58C
|
276 |
427 |
1.63e-45 |
SMART |
FA58C
|
433 |
592 |
9.33e-14 |
SMART |
MAM
|
641 |
802 |
2.31e-60 |
SMART |
low complexity region
|
816 |
831 |
N/A |
INTRINSIC |
Pfam:DUF3481
|
839 |
923 |
1.6e-25 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075144
AA Change: F124L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074642 Gene: ENSMUSG00000025969 AA Change: F124L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CUB
|
28 |
142 |
3.4e-45 |
SMART |
CUB
|
149 |
267 |
1.04e-40 |
SMART |
FA58C
|
276 |
427 |
1.63e-45 |
SMART |
FA58C
|
433 |
592 |
9.33e-14 |
SMART |
MAM
|
641 |
802 |
2.31e-60 |
SMART |
Pfam:DUF3481
|
827 |
911 |
2.3e-25 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102822
AA Change: F124L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099886 Gene: ENSMUSG00000025969 AA Change: F124L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CUB
|
28 |
142 |
3.4e-45 |
SMART |
CUB
|
149 |
267 |
1.04e-40 |
SMART |
FA58C
|
276 |
427 |
1.63e-45 |
SMART |
FA58C
|
433 |
592 |
9.33e-14 |
SMART |
MAM
|
641 |
802 |
2.31e-60 |
SMART |
Pfam:DUF3481
|
822 |
906 |
2.3e-25 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114155
AA Change: F124L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109792 Gene: ENSMUSG00000025969 AA Change: F124L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CUB
|
28 |
142 |
3.4e-45 |
SMART |
CUB
|
149 |
267 |
1.04e-40 |
SMART |
FA58C
|
276 |
427 |
1.63e-45 |
SMART |
FA58C
|
433 |
592 |
9.33e-14 |
SMART |
MAM
|
641 |
802 |
2.31e-60 |
SMART |
Pfam:DUF3481
|
817 |
901 |
9.4e-36 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114157
AA Change: F124L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109794 Gene: ENSMUSG00000025969 AA Change: F124L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
CUB
|
28 |
142 |
3.4e-45 |
SMART |
CUB
|
149 |
267 |
1.04e-40 |
SMART |
FA58C
|
276 |
427 |
1.63e-45 |
SMART |
FA58C
|
433 |
592 |
9.33e-14 |
SMART |
MAM
|
641 |
802 |
2.31e-60 |
SMART |
low complexity region
|
821 |
836 |
N/A |
INTRINSIC |
Pfam:DUF3481
|
844 |
928 |
2.4e-25 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Nullizygous mice may exhibit pre- or postnatal lethality, reduced fertility, hydrocephalus, aberrant sensory innervation, reduced interneuron count, seizure susceptibility and abnormal lymphangiogenesis. Homozygotes for a gene trap allele show abnormal neuronal development and axonal trajectories. [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 |
Adgrl2 |
A |
T |
3: 148,544,926 (GRCm39) |
I723N |
probably damaging |
Het |
Agbl1 |
G |
A |
7: 76,075,648 (GRCm39) |
R682Q |
unknown |
Het |
Ankrd42 |
A |
T |
7: 92,273,257 (GRCm39) |
D123E |
possibly damaging |
Het |
Anxa4 |
A |
T |
6: 86,730,814 (GRCm39) |
I121N |
probably damaging |
Het |
Asic1 |
T |
C |
15: 99,593,414 (GRCm39) |
F257S |
probably benign |
Het |
Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
Cckar |
T |
C |
5: 53,863,608 (GRCm39) |
T118A |
probably benign |
Het |
Cfap61 |
T |
A |
2: 145,854,152 (GRCm39) |
I388N |
probably damaging |
Het |
Chrnd |
A |
T |
1: 87,120,311 (GRCm39) |
I156F |
probably damaging |
Het |
Col15a1 |
T |
A |
4: 47,257,187 (GRCm39) |
L326Q |
possibly damaging |
Het |
Dcpp3 |
A |
T |
17: 24,138,156 (GRCm39) |
I105L |
possibly damaging |
Het |
Dnaaf5 |
T |
A |
5: 139,151,832 (GRCm39) |
H494Q |
probably benign |
Het |
Dph5 |
T |
A |
3: 115,708,692 (GRCm39) |
Y125N |
probably damaging |
Het |
Eif4enif1 |
T |
C |
11: 3,170,280 (GRCm39) |
V111A |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,802,724 (GRCm39) |
I1010K |
probably benign |
Het |
Faf1 |
T |
A |
4: 109,652,016 (GRCm39) |
W236R |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,035,813 (GRCm39) |
D3155G |
probably damaging |
Het |
Fhip2b |
T |
C |
14: 70,827,808 (GRCm39) |
H125R |
probably damaging |
Het |
Firrm |
A |
G |
1: 163,822,195 (GRCm39) |
V32A |
probably damaging |
Het |
Galnt12 |
T |
C |
4: 47,120,390 (GRCm39) |
I491T |
probably damaging |
Het |
Gm10553 |
T |
A |
1: 85,077,901 (GRCm39) |
L6Q |
probably damaging |
Het |
H2-T10 |
A |
T |
17: 36,431,157 (GRCm39) |
I168N |
probably damaging |
Het |
Hdac9 |
T |
A |
12: 34,487,167 (GRCm39) |
Q78L |
probably damaging |
Het |
Hmx1 |
C |
T |
5: 35,549,400 (GRCm39) |
T231M |
probably damaging |
Het |
Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
Hsd17b13 |
T |
C |
5: 104,124,973 (GRCm39) |
K70R |
probably null |
Het |
Hykk |
C |
T |
9: 54,853,521 (GRCm39) |
T281I |
probably benign |
Het |
Il1r2 |
A |
G |
1: 40,162,362 (GRCm39) |
D335G |
probably damaging |
Het |
Insig2 |
A |
C |
1: 121,240,040 (GRCm39) |
L87V |
probably damaging |
Het |
Insrr |
A |
T |
3: 87,721,805 (GRCm39) |
Y1193F |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,371,845 (GRCm39) |
Y1173C |
probably damaging |
Het |
Kcnh8 |
A |
G |
17: 53,104,573 (GRCm39) |
N190S |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,897,119 (GRCm39) |
F161L |
probably benign |
Het |
Lilra5 |
T |
C |
7: 4,244,907 (GRCm39) |
L226P |
probably damaging |
Het |
Muc2 |
C |
T |
7: 141,276,643 (GRCm39) |
A11V |
probably benign |
Het |
Or52e4 |
T |
C |
7: 104,706,374 (GRCm39) |
I307T |
probably benign |
Het |
Or5m11b |
T |
A |
2: 85,806,446 (GRCm39) |
N286K |
probably benign |
Het |
Or5w15 |
T |
A |
2: 87,568,512 (GRCm39) |
D52V |
probably damaging |
Het |
Or8c19-ps1 |
T |
A |
9: 38,220,114 (GRCm39) |
S8T |
probably damaging |
Het |
Pcdhb17 |
A |
T |
18: 37,618,471 (GRCm39) |
N87I |
possibly damaging |
Het |
Pdgfrb |
T |
A |
18: 61,211,721 (GRCm39) |
|
probably null |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pepd |
A |
T |
7: 34,620,882 (GRCm39) |
Q49L |
possibly damaging |
Het |
Pigo |
C |
A |
4: 43,017,967 (GRCm39) |
R1083L |
probably damaging |
Het |
Pitpnm1 |
G |
A |
19: 4,153,269 (GRCm39) |
D142N |
probably damaging |
Het |
Plod1 |
C |
T |
4: 148,016,112 (GRCm39) |
E93K |
probably benign |
Het |
Pramel11 |
A |
T |
4: 143,623,634 (GRCm39) |
V180E |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,698,440 (GRCm39) |
I979T |
probably damaging |
Het |
Scrib |
C |
T |
15: 75,932,492 (GRCm39) |
G743D |
probably damaging |
Het |
Septin3 |
T |
C |
15: 82,170,088 (GRCm39) |
S205P |
probably benign |
Het |
Sez6 |
A |
G |
11: 77,867,632 (GRCm39) |
K850E |
probably damaging |
Het |
Sfxn5 |
T |
A |
6: 85,266,195 (GRCm39) |
T101S |
probably damaging |
Het |
Slc6a5 |
A |
T |
7: 49,567,496 (GRCm39) |
K317* |
probably null |
Het |
Sox8 |
A |
T |
17: 25,786,871 (GRCm39) |
D277E |
probably benign |
Het |
Sptbn2 |
G |
T |
19: 4,795,341 (GRCm39) |
A1600S |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,179,187 (GRCm39) |
V4429A |
possibly damaging |
Het |
Tnrc6b |
T |
A |
15: 80,773,266 (GRCm39) |
F1137L |
possibly damaging |
Het |
Trim43a |
A |
G |
9: 88,466,392 (GRCm39) |
R238G |
probably benign |
Het |
Triobp |
T |
C |
15: 78,887,934 (GRCm39) |
L1943P |
probably damaging |
Het |
Vmn1r125 |
T |
C |
7: 21,006,261 (GRCm39) |
V53A |
possibly damaging |
Het |
Vwa5b1 |
T |
A |
4: 138,319,420 (GRCm39) |
N412I |
probably damaging |
Het |
Yipf7 |
T |
A |
5: 69,678,424 (GRCm39) |
T122S |
probably benign |
Het |
Zfp1005 |
C |
T |
2: 150,110,104 (GRCm39) |
H265Y |
probably benign |
Het |
|
Other mutations in Nrp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00765:Nrp2
|
APN |
1 |
62,743,410 (GRCm39) |
nonsense |
probably null |
|
IGL01912:Nrp2
|
APN |
1 |
62,810,896 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01996:Nrp2
|
APN |
1 |
62,788,419 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02184:Nrp2
|
APN |
1 |
62,758,099 (GRCm39) |
nonsense |
probably null |
|
IGL02682:Nrp2
|
APN |
1 |
62,810,996 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02928:Nrp2
|
APN |
1 |
62,854,605 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03024:Nrp2
|
APN |
1 |
62,810,893 (GRCm39) |
missense |
probably damaging |
1.00 |
Euphorbia
|
UTSW |
1 |
62,801,972 (GRCm39) |
missense |
probably benign |
0.02 |
Sabra
|
UTSW |
1 |
62,822,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Nrp2
|
UTSW |
1 |
62,784,536 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0068:Nrp2
|
UTSW |
1 |
62,784,536 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0683:Nrp2
|
UTSW |
1 |
62,783,477 (GRCm39) |
missense |
probably benign |
0.41 |
R0789:Nrp2
|
UTSW |
1 |
62,784,609 (GRCm39) |
missense |
probably benign |
0.44 |
R1418:Nrp2
|
UTSW |
1 |
62,822,491 (GRCm39) |
nonsense |
probably null |
|
R1468:Nrp2
|
UTSW |
1 |
62,777,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Nrp2
|
UTSW |
1 |
62,777,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R1544:Nrp2
|
UTSW |
1 |
62,802,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R1645:Nrp2
|
UTSW |
1 |
62,824,283 (GRCm39) |
missense |
probably damaging |
0.97 |
R1677:Nrp2
|
UTSW |
1 |
62,822,479 (GRCm39) |
missense |
probably benign |
0.18 |
R1752:Nrp2
|
UTSW |
1 |
62,777,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R1840:Nrp2
|
UTSW |
1 |
62,777,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R1916:Nrp2
|
UTSW |
1 |
62,801,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Nrp2
|
UTSW |
1 |
62,758,090 (GRCm39) |
missense |
probably benign |
0.03 |
R2108:Nrp2
|
UTSW |
1 |
62,783,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R2164:Nrp2
|
UTSW |
1 |
62,783,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R2216:Nrp2
|
UTSW |
1 |
62,802,077 (GRCm39) |
nonsense |
probably null |
|
R2679:Nrp2
|
UTSW |
1 |
62,824,237 (GRCm39) |
missense |
probably benign |
0.00 |
R4349:Nrp2
|
UTSW |
1 |
62,777,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R4351:Nrp2
|
UTSW |
1 |
62,777,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R4352:Nrp2
|
UTSW |
1 |
62,777,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Nrp2
|
UTSW |
1 |
62,777,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R4811:Nrp2
|
UTSW |
1 |
62,758,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R5362:Nrp2
|
UTSW |
1 |
62,808,221 (GRCm39) |
missense |
probably benign |
0.01 |
R5387:Nrp2
|
UTSW |
1 |
62,801,972 (GRCm39) |
missense |
probably benign |
0.02 |
R5461:Nrp2
|
UTSW |
1 |
62,786,370 (GRCm39) |
nonsense |
probably null |
|
R5704:Nrp2
|
UTSW |
1 |
62,824,267 (GRCm39) |
missense |
probably benign |
0.00 |
R6143:Nrp2
|
UTSW |
1 |
62,799,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R6303:Nrp2
|
UTSW |
1 |
62,784,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R6304:Nrp2
|
UTSW |
1 |
62,784,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R6376:Nrp2
|
UTSW |
1 |
62,758,176 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6945:Nrp2
|
UTSW |
1 |
62,799,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R7347:Nrp2
|
UTSW |
1 |
62,784,663 (GRCm39) |
missense |
probably benign |
0.04 |
R7393:Nrp2
|
UTSW |
1 |
62,784,583 (GRCm39) |
missense |
probably damaging |
0.98 |
R7593:Nrp2
|
UTSW |
1 |
62,758,203 (GRCm39) |
missense |
probably damaging |
0.96 |
R7881:Nrp2
|
UTSW |
1 |
62,810,990 (GRCm39) |
missense |
probably benign |
0.42 |
R7882:Nrp2
|
UTSW |
1 |
62,822,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R7948:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R7958:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R7959:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R7960:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R7961:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R8009:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R8012:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R8014:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R8015:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R8068:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R8070:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R8071:Nrp2
|
UTSW |
1 |
62,784,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R8206:Nrp2
|
UTSW |
1 |
62,786,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R8791:Nrp2
|
UTSW |
1 |
62,788,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R9090:Nrp2
|
UTSW |
1 |
62,784,670 (GRCm39) |
missense |
probably benign |
0.21 |
R9271:Nrp2
|
UTSW |
1 |
62,784,670 (GRCm39) |
missense |
probably benign |
0.21 |
R9287:Nrp2
|
UTSW |
1 |
62,835,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R9469:Nrp2
|
UTSW |
1 |
62,804,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R9752:Nrp2
|
UTSW |
1 |
62,851,726 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGATAAAGGTCCCTTTCCAGGC -3'
(R):5'- GGCTCACTGTAGGTGTCACTTC -3'
Sequencing Primer
(F):5'- CAGGCCTTCAGACTGTTCG -3'
(R):5'- CACCATAGTGGGGCCAGATGAC -3'
|
Posted On |
2022-10-06 |