Incidental Mutation 'R5053:Plxna1'
ID |
394744 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxna1
|
Ensembl Gene |
ENSMUSG00000030084 |
Gene Name |
plexin A1 |
Synonyms |
NOV, PlexA1, Plxn1, 2600013D04Rik |
MMRRC Submission |
042643-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.888)
|
Stock # |
R5053 (G1)
|
Quality Score |
163 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
89293295-89339595 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89299442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 1736
(H1736Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131840
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049845]
[ENSMUST00000163139]
|
AlphaFold |
P70206 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049845
AA Change: H1736Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000063066 Gene: ENSMUSG00000030084 AA Change: H1736Q
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: H1736Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000131840 Gene: ENSMUSG00000030084 AA Change: H1736Q
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 |
noncoding transcript
Transcript: ENSMUST00000181258
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205230
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.6%
|
Validation Efficiency |
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvrl1 |
A |
T |
15: 101,035,250 (GRCm39) |
I259F |
probably damaging |
Het |
Adgrf2 |
A |
G |
17: 43,021,334 (GRCm39) |
S497P |
probably damaging |
Het |
Adsl |
T |
C |
15: 80,844,651 (GRCm39) |
C180R |
probably damaging |
Het |
Ahctf1 |
A |
G |
1: 179,614,349 (GRCm39) |
I448T |
possibly damaging |
Het |
Alg9 |
G |
T |
9: 50,699,472 (GRCm39) |
G200W |
probably damaging |
Het |
Amhr2 |
G |
A |
15: 102,355,693 (GRCm39) |
V213I |
probably damaging |
Het |
Ankrd44 |
A |
T |
1: 54,774,248 (GRCm39) |
L200* |
probably null |
Het |
As3mt |
A |
G |
19: 46,697,493 (GRCm39) |
Y87C |
probably damaging |
Het |
Bcl11a |
C |
A |
11: 24,114,068 (GRCm39) |
F470L |
probably benign |
Het |
Cacna2d2 |
A |
T |
9: 107,392,063 (GRCm39) |
Y468F |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,804,848 (GRCm39) |
D71G |
possibly damaging |
Het |
Clca4b |
T |
C |
3: 144,616,882 (GRCm39) |
T923A |
probably benign |
Het |
Clec16a |
T |
C |
16: 10,394,461 (GRCm39) |
L273P |
probably damaging |
Het |
Comtd1 |
T |
C |
14: 21,897,764 (GRCm39) |
D123G |
probably damaging |
Het |
Cpa5 |
A |
T |
6: 30,623,271 (GRCm39) |
E144V |
probably damaging |
Het |
Cyp2c37 |
G |
A |
19: 39,990,331 (GRCm39) |
S343N |
probably benign |
Het |
Dennd6a |
C |
A |
14: 26,329,738 (GRCm39) |
T103K |
probably damaging |
Het |
Ect2l |
A |
G |
10: 18,016,093 (GRCm39) |
L733P |
probably damaging |
Het |
Erg |
T |
A |
16: 95,325,393 (GRCm39) |
H11L |
probably benign |
Het |
Ero1b |
T |
C |
13: 12,614,795 (GRCm39) |
L253P |
probably damaging |
Het |
Etfbkmt |
T |
A |
6: 149,048,766 (GRCm39) |
L135* |
probably null |
Het |
Frmd4a |
A |
T |
2: 4,608,732 (GRCm39) |
T867S |
probably damaging |
Het |
Gm815 |
C |
T |
19: 26,863,813 (GRCm39) |
A18V |
unknown |
Het |
Gna12 |
C |
A |
5: 140,746,482 (GRCm39) |
R321L |
probably benign |
Het |
Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
Irs1 |
A |
G |
1: 82,264,643 (GRCm39) |
L1191P |
probably benign |
Het |
Kcp |
G |
T |
6: 29,496,957 (GRCm39) |
Q551K |
probably benign |
Het |
Klhl11 |
C |
T |
11: 100,363,026 (GRCm39) |
V177M |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Llcfc1 |
A |
G |
6: 41,662,269 (GRCm39) |
H91R |
possibly damaging |
Het |
Lmnb2 |
A |
T |
10: 80,740,489 (GRCm39) |
M223K |
probably damaging |
Het |
Mbd6 |
C |
T |
10: 127,122,310 (GRCm39) |
V173I |
probably benign |
Het |
Mme |
T |
A |
3: 63,272,270 (GRCm39) |
V623E |
probably damaging |
Het |
Ndc1 |
T |
C |
4: 107,231,415 (GRCm39) |
S119P |
probably damaging |
Het |
Nfs1 |
A |
C |
2: 155,968,318 (GRCm39) |
C383G |
probably damaging |
Het |
Nphp4 |
A |
G |
4: 152,628,919 (GRCm39) |
|
probably null |
Het |
Oca2 |
C |
A |
7: 55,973,328 (GRCm39) |
Q411K |
probably benign |
Het |
Or10ab4 |
A |
G |
7: 107,654,741 (GRCm39) |
H184R |
probably benign |
Het |
Or11h23 |
T |
A |
14: 50,947,968 (GRCm39) |
Y60* |
probably null |
Het |
Or1ad1 |
G |
A |
11: 50,876,137 (GRCm39) |
G203D |
probably damaging |
Het |
Or4c15 |
C |
A |
2: 88,760,597 (GRCm39) |
V21F |
probably benign |
Het |
Or8k25 |
A |
G |
2: 86,243,682 (GRCm39) |
F238S |
probably damaging |
Het |
Pcdh7 |
A |
T |
5: 57,878,943 (GRCm39) |
T493S |
probably damaging |
Het |
Phf20 |
T |
C |
2: 156,115,782 (GRCm39) |
S368P |
probably benign |
Het |
Pla2g2e |
T |
G |
4: 138,607,686 (GRCm39) |
V22G |
possibly damaging |
Het |
Prlr |
C |
A |
15: 10,325,471 (GRCm39) |
Q215K |
probably benign |
Het |
Prpf6 |
T |
C |
2: 181,291,246 (GRCm39) |
V687A |
probably benign |
Het |
Ptprq |
T |
A |
10: 107,399,063 (GRCm39) |
T1951S |
probably damaging |
Het |
Sec31a |
G |
T |
5: 100,541,073 (GRCm39) |
Q345K |
possibly damaging |
Het |
Serpina3k |
T |
C |
12: 104,309,473 (GRCm39) |
|
probably null |
Het |
Sertad3 |
T |
A |
7: 27,175,947 (GRCm39) |
V127E |
probably benign |
Het |
Sf3b1 |
A |
T |
1: 55,036,336 (GRCm39) |
N912K |
probably benign |
Het |
Shq1 |
A |
G |
6: 100,632,220 (GRCm39) |
L202P |
probably damaging |
Het |
Sp8 |
C |
T |
12: 118,813,339 (GRCm39) |
T398M |
probably damaging |
Het |
Tmem150c |
A |
T |
5: 100,231,599 (GRCm39) |
D125E |
probably benign |
Het |
Trim3 |
G |
T |
7: 105,266,968 (GRCm39) |
D470E |
probably damaging |
Het |
Ubap1 |
T |
A |
4: 41,387,315 (GRCm39) |
C88* |
probably null |
Het |
Unc79 |
T |
A |
12: 103,071,007 (GRCm39) |
D1124E |
probably damaging |
Het |
Usf3 |
T |
C |
16: 44,037,550 (GRCm39) |
S677P |
probably benign |
Het |
Vmn1r76 |
T |
C |
7: 11,664,241 (GRCm39) |
|
probably null |
Het |
Zfp819 |
C |
T |
7: 43,266,570 (GRCm39) |
T275I |
probably damaging |
Het |
Zranb2 |
T |
A |
3: 157,246,796 (GRCm39) |
D161E |
probably damaging |
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 |
|
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 |
|
R7678:Plxna1
|
UTSW |
6 |
89,308,882 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- GTTTCTTACAAGGCAGCCCCTC -3'
(R):5'- AGAGCTCCTACAGACCTGTC -3'
Sequencing Primer
(F):5'- TCACCCATGGAATTCCTACAGG -3'
(R):5'- TCCAGGTCCTAGGAGGGTAG -3'
|
Posted On |
2016-06-15 |