Incidental Mutation 'R0683:Nrp2'
| ID |
61034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp2
|
| Ensembl Gene |
ENSMUSG00000025969 |
| Gene Name |
neuropilin 2 |
| Synonyms |
1110048P06Rik, NP-2, Npn-2, NP2, Npn2 |
| MMRRC Submission |
038868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R0683 (G1)
|
| Quality Score |
128 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
62742476-62857851 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62783477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 193
(T193A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027112]
[ENSMUST00000063594]
[ENSMUST00000075144]
[ENSMUST00000102822]
[ENSMUST00000114155]
[ENSMUST00000114157]
|
| AlphaFold |
O35375 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027112
AA Change: T193A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027112
Gene: ENSMUSG00000025969
AA Change: T193A
| 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 benign
Transcript: ENSMUST00000063594
AA Change: T193A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000069379
Gene: ENSMUSG00000025969
AA Change: T193A
| 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 benign
Transcript: ENSMUST00000075144
AA Change: T193A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074642
Gene: ENSMUSG00000025969
AA Change: T193A
| 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 benign
Transcript: ENSMUST00000102822
AA Change: T193A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099886
Gene: ENSMUSG00000025969
AA Change: T193A
| 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 benign
Transcript: ENSMUST00000114155
AA Change: T193A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109792
Gene: ENSMUSG00000025969
AA Change: T193A
| 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 benign
Transcript: ENSMUST00000114157
AA Change: T193A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109794
Gene: ENSMUSG00000025969
AA Change: T193A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126344
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,939,591 (GRCm39) |
D533G |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Eif3i |
G |
T |
4: 129,487,328 (GRCm39) |
N162K |
probably benign |
Het |
| Exoc8 |
A |
G |
8: 125,622,372 (GRCm39) |
I665T |
probably damaging |
Het |
| Ggt7 |
A |
G |
2: 155,348,428 (GRCm39) |
S75P |
probably benign |
Het |
| Gjd3 |
A |
T |
11: 102,691,237 (GRCm39) |
F255L |
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,758,901 (GRCm39) |
F88L |
unknown |
Het |
| Maml3 |
G |
A |
3: 51,764,173 (GRCm39) |
Q264* |
probably null |
Het |
| Ncoa4-ps |
T |
C |
12: 119,224,813 (GRCm39) |
|
noncoding transcript |
Het |
| Neu1 |
A |
T |
17: 35,153,301 (GRCm39) |
|
probably null |
Het |
| Or4c12b |
C |
G |
2: 89,647,522 (GRCm39) |
P278R |
probably damaging |
Het |
| P4ha1 |
A |
G |
10: 59,172,969 (GRCm39) |
T23A |
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,818,740 (GRCm39) |
I112V |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,721,086 (GRCm39) |
V1385D |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,751 (GRCm39) |
N249S |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,255,950 (GRCm39) |
T923A |
probably benign |
Het |
| Speg |
G |
A |
1: 75,405,762 (GRCm39) |
A2989T |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tcp11l1 |
A |
T |
2: 104,512,237 (GRCm39) |
V465E |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,768,653 (GRCm39) |
T2973I |
unknown |
Het |
| Vav3 |
C |
A |
3: 109,559,129 (GRCm39) |
Q110K |
probably benign |
Het |
| Xcr1 |
T |
C |
9: 123,684,940 (GRCm39) |
D274G |
probably benign |
Het |
| Zfp763 |
G |
A |
17: 33,237,892 (GRCm39) |
P418S |
probably damaging |
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 |
|
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 |
|
R9646:Nrp2
|
UTSW |
1 |
62,777,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9752:Nrp2
|
UTSW |
1 |
62,851,726 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCAAGGATGTGTTGTTCCAAG -3'
(R):5'- GCTGGGTTGTACGTCAGAGAGATTC -3'
Sequencing Primer
(F):5'- ttctctctctccttctctccc -3'
(R):5'- gttaatcgaagtgggaagatgtg -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation