Incidental Mutation 'R7678:Plxna1'
ID |
592577 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxna1
|
Ensembl Gene |
ENSMUSG00000030084 |
Gene Name |
plexin A1 |
Synonyms |
NOV, PlexA1, Plxn1, 2600013D04Rik |
MMRRC Submission |
045745-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.895)
|
Stock # |
R7678 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
89293295-89339595 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 89308882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 1199
(V1199M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063066
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049845]
[ENSMUST00000163139]
|
AlphaFold |
P70206 |
PDB Structure |
The Plexin A1 intracellular region in complex with Rac1 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049845
AA Change: V1199M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000063066 Gene: ENSMUSG00000030084 AA Change: V1199M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Sema
|
49 |
494 |
7.43e-126 |
SMART |
PSI
|
512 |
562 |
6.4e-11 |
SMART |
PSI
|
658 |
705 |
9.78e-7 |
SMART |
low complexity region
|
759 |
772 |
N/A |
INTRINSIC |
PSI
|
806 |
860 |
7.24e-10 |
SMART |
IPT
|
861 |
957 |
3.2e-26 |
SMART |
IPT
|
958 |
1043 |
1.59e-21 |
SMART |
IPT
|
1045 |
1145 |
6.86e-26 |
SMART |
IPT
|
1147 |
1242 |
1.64e-5 |
SMART |
transmembrane domain
|
1243 |
1265 |
N/A |
INTRINSIC |
Pfam:Plexin_cytopl
|
1316 |
1864 |
8.8e-263 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163139
AA Change: V1199M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000131840 Gene: ENSMUSG00000030084 AA Change: V1199M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Sema
|
49 |
494 |
7.43e-126 |
SMART |
PSI
|
512 |
562 |
6.4e-11 |
SMART |
PSI
|
658 |
705 |
9.78e-7 |
SMART |
low complexity region
|
759 |
772 |
N/A |
INTRINSIC |
PSI
|
806 |
860 |
7.24e-10 |
SMART |
IPT
|
861 |
957 |
3.2e-26 |
SMART |
IPT
|
958 |
1043 |
1.59e-21 |
SMART |
IPT
|
1045 |
1145 |
6.86e-26 |
SMART |
IPT
|
1147 |
1242 |
1.64e-5 |
SMART |
transmembrane domain
|
1243 |
1265 |
N/A |
INTRINSIC |
Pfam:Plexin_cytopl
|
1315 |
1864 |
2.5e-264 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205121
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (67/68) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit bone cellularity abnormalities, altered dendritic cell physiology, abnormal proprioceptive and oligodendrocyte morphology, and increased lymphatic branching complexity and LEC numbers. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
C |
A |
5: 8,137,750 (GRCm39) |
|
probably null |
Het |
Ank1 |
A |
G |
8: 23,607,074 (GRCm39) |
D1325G |
probably damaging |
Het |
Asxl1 |
T |
C |
2: 153,242,572 (GRCm39) |
S1042P |
probably damaging |
Het |
Bpifb1 |
C |
T |
2: 154,044,649 (GRCm39) |
H39Y |
possibly damaging |
Het |
Capn13 |
C |
A |
17: 73,622,300 (GRCm39) |
M663I |
probably damaging |
Het |
Cemip2 |
C |
A |
19: 21,775,480 (GRCm39) |
T241K |
probably damaging |
Het |
Clec2g |
A |
G |
6: 128,956,400 (GRCm39) |
E72G |
probably damaging |
Het |
Col12a1 |
T |
A |
9: 79,558,768 (GRCm39) |
Y1899F |
probably damaging |
Het |
Ctbp2 |
A |
G |
7: 132,616,353 (GRCm39) |
V194A |
probably benign |
Het |
Cttnbp2 |
G |
T |
6: 18,382,809 (GRCm39) |
L1320I |
probably damaging |
Het |
E2f2 |
T |
A |
4: 135,920,137 (GRCm39) |
L374* |
probably null |
Het |
Echdc3 |
C |
T |
2: 6,217,687 (GRCm39) |
G29S |
probably benign |
Het |
Ecm1 |
A |
G |
3: 95,643,494 (GRCm39) |
S269P |
probably damaging |
Het |
Elmo2 |
G |
A |
2: 165,133,664 (GRCm39) |
P775S |
unknown |
Het |
Eno3 |
T |
A |
11: 70,549,993 (GRCm39) |
|
probably null |
Het |
Faf1 |
G |
A |
4: 109,687,061 (GRCm39) |
R267K |
probably benign |
Het |
Fam162a |
G |
A |
16: 35,870,307 (GRCm39) |
|
probably benign |
Het |
Fam178b |
T |
A |
1: 36,603,532 (GRCm39) |
D473V |
probably damaging |
Het |
Fat2 |
G |
A |
11: 55,173,156 (GRCm39) |
T2519I |
probably damaging |
Het |
Foxc2 |
A |
G |
8: 121,844,834 (GRCm39) |
Y494C |
probably damaging |
Het |
Gcnt2 |
C |
A |
13: 41,107,195 (GRCm39) |
Q355K |
probably benign |
Het |
Glg1 |
G |
T |
8: 111,905,497 (GRCm39) |
H595N |
probably benign |
Het |
Gm9913 |
A |
T |
2: 125,348,480 (GRCm39) |
H97L |
unknown |
Het |
Hbegf |
T |
A |
18: 36,640,601 (GRCm39) |
N152I |
possibly damaging |
Het |
Hipk1 |
G |
A |
3: 103,667,866 (GRCm39) |
T567I |
probably damaging |
Het |
Idh3a |
C |
T |
9: 54,502,453 (GRCm39) |
P78S |
probably damaging |
Het |
Igsf10 |
A |
T |
3: 59,226,761 (GRCm39) |
M2304K |
possibly damaging |
Het |
Inf2 |
A |
G |
12: 112,573,428 (GRCm39) |
T723A |
unknown |
Het |
Itpr2 |
A |
T |
6: 146,089,048 (GRCm39) |
F2220Y |
probably benign |
Het |
Kpnb1 |
C |
T |
11: 97,059,999 (GRCm39) |
R557Q |
probably damaging |
Het |
Lefty1 |
A |
G |
1: 180,764,325 (GRCm39) |
D155G |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,409,922 (GRCm39) |
C1554R |
probably damaging |
Het |
Lrrc10 |
A |
G |
10: 116,881,662 (GRCm39) |
D112G |
probably benign |
Het |
Med12l |
A |
G |
3: 58,984,141 (GRCm39) |
E439G |
probably damaging |
Het |
Ms4a7 |
A |
T |
19: 11,301,868 (GRCm39) |
F185Y |
probably benign |
Het |
Mtmr6 |
T |
A |
14: 60,527,101 (GRCm39) |
M234K |
probably damaging |
Het |
Myh7b |
C |
A |
2: 155,459,698 (GRCm39) |
|
probably null |
Het |
Myo1d |
T |
C |
11: 80,567,719 (GRCm39) |
M254V |
possibly damaging |
Het |
Nbas |
T |
C |
12: 13,465,662 (GRCm39) |
V1368A |
probably damaging |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Neb |
A |
G |
2: 52,096,714 (GRCm39) |
V4999A |
probably damaging |
Het |
Npbwr1 |
G |
T |
1: 5,986,927 (GRCm39) |
Q196K |
probably benign |
Het |
Nsd3 |
A |
T |
8: 26,149,833 (GRCm39) |
E339D |
possibly damaging |
Het |
Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
Or11g1 |
T |
C |
14: 50,651,471 (GRCm39) |
F157L |
probably damaging |
Het |
Or6c206 |
A |
G |
10: 129,096,937 (GRCm39) |
S36G |
probably damaging |
Het |
Or7d11 |
T |
C |
9: 19,965,901 (GRCm39) |
N168S |
probably damaging |
Het |
Ppfibp2 |
T |
A |
7: 107,315,873 (GRCm39) |
M285K |
probably damaging |
Het |
Ppip5k1 |
A |
G |
2: 121,168,142 (GRCm39) |
Y704H |
probably damaging |
Het |
Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
Sbspon |
T |
C |
1: 15,929,282 (GRCm39) |
M170V |
probably benign |
Het |
Scfd2 |
A |
C |
5: 74,619,297 (GRCm39) |
F440V |
probably benign |
Het |
Slc22a19 |
T |
A |
19: 7,688,302 (GRCm39) |
D86V |
possibly damaging |
Het |
Smg5 |
A |
G |
3: 88,261,202 (GRCm39) |
N685S |
possibly damaging |
Het |
Spata46 |
A |
G |
1: 170,139,333 (GRCm39) |
R111G |
possibly damaging |
Het |
Sry |
A |
T |
Y: 2,663,248 (GRCm39) |
D137E |
possibly damaging |
Het |
Tbkbp1 |
T |
C |
11: 97,040,309 (GRCm39) |
D35G |
probably damaging |
Het |
Tcf20 |
A |
T |
15: 82,735,766 (GRCm39) |
V1895D |
possibly damaging |
Het |
Tfap4 |
G |
T |
16: 4,369,630 (GRCm39) |
Q112K |
possibly damaging |
Het |
Trmt10c |
T |
A |
16: 55,855,302 (GRCm39) |
D111V |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,688,881 (GRCm39) |
I2415T |
probably benign |
Het |
Vmn2r107 |
A |
T |
17: 20,576,901 (GRCm39) |
M300L |
probably benign |
Het |
Vmn2r5 |
A |
T |
3: 64,416,943 (GRCm39) |
F72I |
probably benign |
Het |
Vmn2r53 |
T |
A |
7: 12,332,425 (GRCm39) |
H408L |
probably benign |
Het |
Zan |
C |
T |
5: 137,461,802 (GRCm39) |
V1126M |
unknown |
Het |
Zfp493 |
A |
T |
13: 67,927,814 (GRCm39) |
|
probably benign |
Het |
Zfp618 |
C |
A |
4: 63,004,858 (GRCm39) |
A86E |
probably benign |
Het |
|
Other mutations in Plxna1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00427:Plxna1
|
APN |
6 |
89,297,980 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01358:Plxna1
|
APN |
6 |
89,299,732 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01475:Plxna1
|
APN |
6 |
89,331,870 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01480:Plxna1
|
APN |
6 |
89,321,078 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01585:Plxna1
|
APN |
6 |
89,306,538 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01804:Plxna1
|
APN |
6 |
89,306,628 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01909:Plxna1
|
APN |
6 |
89,309,066 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01989:Plxna1
|
APN |
6 |
89,306,396 (GRCm39) |
nonsense |
probably null |
|
IGL02015:Plxna1
|
APN |
6 |
89,319,433 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02023:Plxna1
|
APN |
6 |
89,334,314 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02668:Plxna1
|
APN |
6 |
89,334,251 (GRCm39) |
nonsense |
probably null |
|
IGL02703:Plxna1
|
APN |
6 |
89,333,925 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02954:Plxna1
|
APN |
6 |
89,301,649 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03212:Plxna1
|
APN |
6 |
89,308,885 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4544001:Plxna1
|
UTSW |
6 |
89,334,411 (GRCm39) |
missense |
probably benign |
0.14 |
R0055:Plxna1
|
UTSW |
6 |
89,306,721 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0055:Plxna1
|
UTSW |
6 |
89,306,721 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0147:Plxna1
|
UTSW |
6 |
89,297,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0149:Plxna1
|
UTSW |
6 |
89,297,595 (GRCm39) |
missense |
probably null |
0.95 |
R0166:Plxna1
|
UTSW |
6 |
89,310,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R0200:Plxna1
|
UTSW |
6 |
89,300,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R0415:Plxna1
|
UTSW |
6 |
89,334,318 (GRCm39) |
missense |
probably benign |
0.12 |
R0841:Plxna1
|
UTSW |
6 |
89,309,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R1018:Plxna1
|
UTSW |
6 |
89,319,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R1240:Plxna1
|
UTSW |
6 |
89,298,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R1355:Plxna1
|
UTSW |
6 |
89,297,748 (GRCm39) |
unclassified |
probably benign |
|
R1700:Plxna1
|
UTSW |
6 |
89,333,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R1776:Plxna1
|
UTSW |
6 |
89,312,446 (GRCm39) |
missense |
probably benign |
0.00 |
R1957:Plxna1
|
UTSW |
6 |
89,308,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R2314:Plxna1
|
UTSW |
6 |
89,301,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R2968:Plxna1
|
UTSW |
6 |
89,319,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R3118:Plxna1
|
UTSW |
6 |
89,333,958 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3522:Plxna1
|
UTSW |
6 |
89,314,335 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3619:Plxna1
|
UTSW |
6 |
89,334,435 (GRCm39) |
missense |
probably damaging |
0.97 |
R3766:Plxna1
|
UTSW |
6 |
89,311,757 (GRCm39) |
unclassified |
probably benign |
|
R3847:Plxna1
|
UTSW |
6 |
89,333,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R3849:Plxna1
|
UTSW |
6 |
89,333,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R3872:Plxna1
|
UTSW |
6 |
89,309,674 (GRCm39) |
nonsense |
probably null |
|
R4555:Plxna1
|
UTSW |
6 |
89,300,310 (GRCm39) |
missense |
probably damaging |
0.99 |
R4709:Plxna1
|
UTSW |
6 |
89,311,733 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4726:Plxna1
|
UTSW |
6 |
89,299,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Plxna1
|
UTSW |
6 |
89,309,657 (GRCm39) |
splice site |
probably null |
|
R5053:Plxna1
|
UTSW |
6 |
89,299,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R5221:Plxna1
|
UTSW |
6 |
89,297,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R5449:Plxna1
|
UTSW |
6 |
89,300,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R5480:Plxna1
|
UTSW |
6 |
89,301,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R5575:Plxna1
|
UTSW |
6 |
89,301,523 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5743:Plxna1
|
UTSW |
6 |
89,333,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R5744:Plxna1
|
UTSW |
6 |
89,311,664 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5754:Plxna1
|
UTSW |
6 |
89,310,087 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5868:Plxna1
|
UTSW |
6 |
89,299,704 (GRCm39) |
splice site |
probably benign |
|
R5988:Plxna1
|
UTSW |
6 |
89,334,522 (GRCm39) |
nonsense |
probably null |
|
R6190:Plxna1
|
UTSW |
6 |
89,333,586 (GRCm39) |
nonsense |
probably null |
|
R6425:Plxna1
|
UTSW |
6 |
89,311,647 (GRCm39) |
missense |
probably benign |
0.00 |
R6561:Plxna1
|
UTSW |
6 |
89,333,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R6623:Plxna1
|
UTSW |
6 |
89,299,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R6638:Plxna1
|
UTSW |
6 |
89,301,382 (GRCm39) |
missense |
probably damaging |
0.97 |
R6701:Plxna1
|
UTSW |
6 |
89,296,430 (GRCm39) |
missense |
probably damaging |
0.99 |
R6825:Plxna1
|
UTSW |
6 |
89,297,597 (GRCm39) |
missense |
probably benign |
0.01 |
R6911:Plxna1
|
UTSW |
6 |
89,297,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R7073:Plxna1
|
UTSW |
6 |
89,334,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R7177:Plxna1
|
UTSW |
6 |
89,300,311 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7235:Plxna1
|
UTSW |
6 |
89,317,573 (GRCm39) |
missense |
probably damaging |
0.97 |
R7419:Plxna1
|
UTSW |
6 |
89,334,584 (GRCm39) |
missense |
unknown |
|
R7511:Plxna1
|
UTSW |
6 |
89,318,889 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7543:Plxna1
|
UTSW |
6 |
89,299,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R7665:Plxna1
|
UTSW |
6 |
89,301,520 (GRCm39) |
critical splice donor site |
probably null |
|
R7748:Plxna1
|
UTSW |
6 |
89,314,335 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7748:Plxna1
|
UTSW |
6 |
89,314,334 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7877:Plxna1
|
UTSW |
6 |
89,300,241 (GRCm39) |
missense |
probably damaging |
0.99 |
R8025:Plxna1
|
UTSW |
6 |
89,308,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R8171:Plxna1
|
UTSW |
6 |
89,334,102 (GRCm39) |
missense |
probably benign |
0.20 |
R8277:Plxna1
|
UTSW |
6 |
89,334,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R8782:Plxna1
|
UTSW |
6 |
89,300,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R8867:Plxna1
|
UTSW |
6 |
89,310,079 (GRCm39) |
missense |
probably benign |
0.00 |
R9245:Plxna1
|
UTSW |
6 |
89,314,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R9253:Plxna1
|
UTSW |
6 |
89,334,522 (GRCm39) |
nonsense |
probably null |
|
R9269:Plxna1
|
UTSW |
6 |
89,306,541 (GRCm39) |
missense |
probably null |
1.00 |
R9273:Plxna1
|
UTSW |
6 |
89,296,364 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9281:Plxna1
|
UTSW |
6 |
89,300,313 (GRCm39) |
missense |
probably damaging |
1.00 |
R9368:Plxna1
|
UTSW |
6 |
89,314,138 (GRCm39) |
missense |
probably benign |
|
R9440:Plxna1
|
UTSW |
6 |
89,318,912 (GRCm39) |
missense |
probably benign |
0.00 |
R9526:Plxna1
|
UTSW |
6 |
89,319,633 (GRCm39) |
missense |
probably benign |
|
R9601:Plxna1
|
UTSW |
6 |
89,308,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R9714:Plxna1
|
UTSW |
6 |
89,296,440 (GRCm39) |
missense |
probably damaging |
0.99 |
R9782:Plxna1
|
UTSW |
6 |
89,333,817 (GRCm39) |
missense |
probably benign |
0.01 |
S24628:Plxna1
|
UTSW |
6 |
89,334,318 (GRCm39) |
missense |
probably benign |
0.12 |
V8831:Plxna1
|
UTSW |
6 |
89,334,119 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Plxna1
|
UTSW |
6 |
89,298,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCCATGGGGATTTTCTCAGAG -3'
(R):5'- GCTCATCCTCAAGGTAGGTCTC -3'
Sequencing Primer
(F):5'- CTCAGAGGTGGGGTTGCTCTAG -3'
(R):5'- TCAAGGTAGGTCTCAGCCACTG -3'
|
Posted On |
2019-11-12 |