Mutagenetix > Incidental Mutation

Incidental Mutation 'V8831:Plxna1'

44614

Institutional Source

Beutler Lab

Gene Symbol

Plxna1

Ensembl Gene

ENSMUSG00000030084

Gene Name

plexin A1

Synonyms

NOV, PlexA1, Plxn1, 2600013D04Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

V8831 () of strain 710

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89293295-89339595 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89334119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 170 (V170A)

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: V170A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: V170A

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: V170A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: V170A

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsa1	A	G	12: 87,316,697 (GRCm39)	N107S	probably damaging	Het
Arhgap23	A	G	11: 97,347,371 (GRCm39)	I690V	probably benign	Het
Bard1	G	A	1: 71,127,376 (GRCm39)	P78S	probably damaging	Het
Ccar1	G	A	10: 62,583,185 (GRCm39)	T976I	unknown	Het
Cdc7	T	A	5: 107,116,776 (GRCm39)	N50K	probably benign	Het
Cep85	C	T	4: 133,883,380 (GRCm39)	E170K	possibly damaging	Het
Cpsf2	C	T	12: 101,969,400 (GRCm39)	R757C	probably damaging	Het
Csmd3	A	T	15: 48,321,092 (GRCm39)	D239E	probably damaging	Het
Dnah7b	T	G	1: 46,412,458 (GRCm39)	Y4022*	probably null	Het
Elmo3	A	G	8: 106,033,693 (GRCm39)	N179S	probably benign	Het
H2bc11	G	C	13: 22,227,451 (GRCm39)		probably benign	Het
H2-T24	T	A	17: 36,328,216 (GRCm39)	Q89L	probably damaging	Het
Irak4	T	C	15: 94,459,365 (GRCm39)	I327T	probably damaging	Het
Itpr2	A	T	6: 146,287,380 (GRCm39)	L157Q	probably damaging	Het
Lama1	G	A	17: 68,059,878 (GRCm39)	D656N	probably benign	Het
Lrrc72	G	T	12: 36,258,656 (GRCm39)	T67K	possibly damaging	Het
Map2	T	G	1: 66,455,004 (GRCm39)	I1298S	probably damaging	Het
Mroh2a	T	TN	1: 88,183,889 (GRCm39)		probably null	Het
Ndst1	G	A	18: 60,835,999 (GRCm39)	A428V	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Or2w1b	T	C	13: 21,300,173 (GRCm39)	Y104H	possibly damaging	Het
Or5k14	G	T	16: 58,693,438 (GRCm39)	T25K	probably benign	Het
Or5p4	C	T	7: 107,680,742 (GRCm39)	A247V	probably benign	Het
Rfx6	G	A	10: 51,594,304 (GRCm39)		probably null	Het
Shprh	G	A	10: 11,062,606 (GRCm39)	D1238N	probably damaging	Het
Slc15a2	A	G	16: 36,772,445 (GRCm38)	M179T	probably benign	Het
Slc9c1	A	T	16: 45,398,262 (GRCm39)	I676F	possibly damaging	Het
Smoc1	A	G	12: 81,215,029 (GRCm39)	D305G	probably damaging	Het
Spdef	C	T	17: 27,937,051 (GRCm39)	R184H	probably damaging	Het
Stxbp4	C	T	11: 90,371,497 (GRCm39)	A535T	probably benign	Het
Tcp11l1	C	G	2: 104,515,829 (GRCm39)	V345L	probably benign	Het
Ticam1	TC	T	17: 56,576,969 (GRCm39)	708	probably null	Het
Ttc28	A	T	5: 111,248,578 (GRCm39)	Y177F	probably benign	Het
Ugt2b34	A	T	5: 87,054,533 (GRCm39)	Y83N	probably benign	Het
Vmn2r30	G	A	7: 7,337,148 (GRCm39)	R163C	probably benign	Het
Xirp1	T	G	9: 120,016,907 (GRCm38)	Q970P	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
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
Z1176:Plxna1	UTSW	6	89,298,034 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAAGGCTGGGAACTTGGACAATG -3'
(R):5'- GTGACAGGCCCTGTAGAAGACAATG -3'

Sequencing Primer
(F):5'- ACTTGGACAATGTGTCTGAAGG -3'
(R):5'- TACAGTCCTGCCCACATGG -3'

Posted On

2013-06-11