Mutagenetix > Incidental Mutation

Incidental Mutation 'R6561:Plxna1'

523131

Institutional Source

Beutler Lab

Gene Symbol

Plxna1

Ensembl Gene

ENSMUSG00000030084

Gene Name

plexin A1

Synonyms

NOV, PlexA1, Plxn1, 2600013D04Rik

MMRRC Submission

044685-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R6561 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89293295-89339595 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89333960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 223 (V223A)

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: V223A

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

SMART Domains

Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: V223A

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: V223A

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

SMART Domains

Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: V223A

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

Meta Mutation Damage Score

0.2731

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

97% (30/31)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,977,825 (GRCm39)	I468F	probably benign	Het
Ahsa2	T	A	11: 23,441,036 (GRCm39)	I202F	possibly damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Anapc1	A	G	2: 128,505,919 (GRCm39)	V639A	probably damaging	Het
Cdh12	A	G	15: 21,492,680 (GRCm39)	Y233C	probably damaging	Het
Dchs2	G	T	3: 83,036,476 (GRCm39)	V408F	probably benign	Het
Dnmt3c	T	A	2: 153,561,950 (GRCm39)	L551Q	probably damaging	Het
Dock2	A	G	11: 34,578,365 (GRCm39)	F746S	probably damaging	Het
Fastkd3	C	T	13: 68,732,149 (GRCm39)	R157C	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ier3ip1	T	A	18: 77,027,344 (GRCm39)	S58T	probably damaging	Het
Itpr2	A	G	6: 146,135,504 (GRCm39)	V1809A	probably damaging	Het
Kif22	T	A	7: 126,630,225 (GRCm39)	N437I	probably benign	Het
Klri1	A	G	6: 129,693,964 (GRCm39)	V41A	probably benign	Het
Lrrc14	T	A	15: 76,597,646 (GRCm39)	D125E	possibly damaging	Het
Nek10	A	T	14: 14,828,448 (GRCm38)	N90I	possibly damaging	Het
Nostrin	G	A	2: 69,011,201 (GRCm39)	A331T	probably benign	Het
Or4k2	T	C	14: 50,423,775 (GRCm39)	K300E	probably damaging	Het
Or5b109	A	G	19: 13,212,394 (GRCm39)	Y260C	probably damaging	Het
Or8b12i	T	C	9: 20,082,073 (GRCm39)	T265A	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Skic3	T	A	13: 76,298,638 (GRCm39)	S1115T	probably damaging	Het
Smg1	A	T	7: 117,765,300 (GRCm39)		probably benign	Het
Sorbs1	A	G	19: 40,314,496 (GRCm39)	I772T	probably benign	Het
Sptbn2	A	G	19: 4,797,954 (GRCm39)	N1927S	probably benign	Het
Tab1	T	C	15: 80,033,031 (GRCm39)	V105A	probably benign	Het
Trbv15	A	T	6: 41,118,414 (GRCm39)	T57S	probably benign	Het
Vmn1r78	A	T	7: 11,886,826 (GRCm39)	I146F	probably damaging	Het
Vmn2r39	T	A	7: 9,018,092 (GRCm39)	Y748F	probably damaging	Het
Zfp493	T	A	13: 67,934,338 (GRCm39)	V65D	possibly 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
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
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'- AACTTGGGGTCATTCACGC -3'
(R):5'- CTACCTGTCCAGTGTTCGAG -3'

Sequencing Primer
(F):5'- CAGCCGCACAATCTTGGAG -3'
(R):5'- CCAGTGTTCGAGAGGCTG -3'

Posted On

2018-06-06