Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02015:Plxna1'

183713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plxna1

Ensembl Gene

ENSMUSG00000030084

Gene Name

plexin A1

Synonyms

NOV, PlexA1, Plxn1, 2600013D04Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

IGL02015

Quality Score

Status

Chromosome

Chromosomal Location

89293295-89339595 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89319433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 590 (L590P)

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: L590P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: L590P

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: L590P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: L590P

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: ENSMUST00000204568

Predicted Effect

unknown
Transcript: ENSMUST00000205121
AA Change: S13P

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9l	C	A	9: 44,420,098 (GRCm39)		probably null	Het
C1qtnf12	A	G	4: 156,047,201 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
D430041D05Rik	A	G	2: 104,060,749 (GRCm39)	Y1382H	probably damaging	Het
Fut1	A	T	7: 45,268,399 (GRCm39)	M118L	probably damaging	Het
Fzd5	A	T	1: 64,775,501 (GRCm39)	C87S	probably damaging	Het
Gmcl1	A	G	6: 86,684,439 (GRCm39)	V361A	possibly damaging	Het
Inpp4a	T	G	1: 37,428,793 (GRCm39)	F700V	probably damaging	Het
Klk1b21	A	T	7: 43,753,782 (GRCm39)	Q22L	probably benign	Het
Lrp2	T	A	2: 69,357,922 (GRCm39)	Q369L	probably benign	Het
Mtor	C	T	4: 148,624,570 (GRCm39)	Q2117*	probably null	Het
Naip2	A	T	13: 100,298,115 (GRCm39)	S640R	possibly damaging	Het
Nt5e	T	C	9: 88,249,290 (GRCm39)	I408T	probably damaging	Het
Or10ab5	T	A	7: 108,245,220 (GRCm39)	N188Y	probably damaging	Het
Or51h5	G	A	7: 102,577,399 (GRCm39)	R188H	probably benign	Het
Or8d2	T	C	9: 38,760,090 (GRCm39)	S227P	probably damaging	Het
Ppp1r35	T	C	5: 137,778,293 (GRCm39)		probably benign	Het
Prmt2	G	A	10: 76,062,089 (GRCm39)	Q39*	probably null	Het
Ptprg	A	T	14: 12,237,782 (GRCm38)	N1413I	possibly damaging	Het
Ranbp10	C	A	8: 106,506,622 (GRCm39)	G233C	probably damaging	Het
Rapgef2	A	G	3: 78,999,371 (GRCm39)		probably benign	Het
Rilpl2	T	C	5: 124,607,876 (GRCm39)	T115A	probably benign	Het
Scaf4	T	C	16: 90,055,734 (GRCm39)	S108G	unknown	Het
Scn10a	C	T	9: 119,494,017 (GRCm39)	V430M	probably benign	Het
Sf3b3	T	C	8: 111,542,922 (GRCm39)	E845G	possibly damaging	Het
Skint2	C	T	4: 112,481,325 (GRCm39)	R63*	probably null	Het
Slc35b4	A	T	6: 34,147,483 (GRCm39)	V35D	probably damaging	Het
Slc6a3	A	T	13: 73,692,833 (GRCm39)	Y151F	possibly damaging	Het
Susd1	G	A	4: 59,315,745 (GRCm39)	T689I	possibly damaging	Het
Tbx21	T	C	11: 96,989,740 (GRCm39)	D484G	probably benign	Het
Tln2	C	T	9: 67,268,721 (GRCm39)		probably benign	Het
Traf3	A	G	12: 111,219,174 (GRCm39)	N242S	probably benign	Het
Tut7	A	G	13: 59,937,072 (GRCm39)	Y790H	probably damaging	Het
Xiap	T	A	X: 41,185,487 (GRCm39)		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
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
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

Posted On

2014-05-07