Mutagenetix > Incidental Mutation

Incidental Mutation 'R6638:Plxna1'

525580

Institutional Source

Beutler Lab

Gene Symbol

Plxna1

Ensembl Gene

ENSMUSG00000030084

Gene Name

plexin A1

Synonyms

NOV, PlexA1, Plxn1, 2600013D04Rik

MMRRC Submission

044759-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

R6638 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89293295-89339595 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89301382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1506 (V1506E)

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: V1506E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: V1506E

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: V1506E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: V1506E

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,451,521 (GRCm39)	N868K	probably benign	Het
Cep112	T	C	11: 108,746,696 (GRCm39)	S980P	probably damaging	Het
Dlk1	A	G	12: 109,426,204 (GRCm39)	E95G	probably damaging	Het
Dnah6	A	T	6: 73,012,263 (GRCm39)		probably null	Het
Dppa2	A	T	16: 48,134,523 (GRCm39)	H118L	possibly damaging	Het
Eif4enif1	T	C	11: 3,192,463 (GRCm39)	S740P	probably damaging	Het
Eva1b	T	C	4: 126,043,265 (GRCm39)	S102P	probably benign	Het
Fndc3a	G	A	14: 72,796,688 (GRCm39)	R637*	probably null	Het
Fras1	A	T	5: 96,905,953 (GRCm39)	D3119V	possibly damaging	Het
Hmgcr	T	C	13: 96,795,490 (GRCm39)	T360A	probably benign	Het
Kif21a	A	G	15: 90,850,610 (GRCm39)	V1017A	probably damaging	Het
Lats2	A	G	14: 57,936,822 (GRCm39)	S556P	probably damaging	Het
Lrrc7	A	G	3: 157,840,940 (GRCm39)	F1366S	probably benign	Het
Mtmr2	C	A	9: 13,707,429 (GRCm39)	A327E	probably damaging	Het
Naip6	C	A	13: 100,436,909 (GRCm39)	S538I	probably benign	Het
Or9r3	T	C	10: 129,947,739 (GRCm39)	T307A	probably benign	Het
Ovch2	A	T	7: 107,388,301 (GRCm39)	H426Q	probably benign	Het
Poldip3	A	T	15: 83,017,401 (GRCm39)	S225T	probably damaging	Het
Polr3h	A	G	15: 81,802,505 (GRCm39)	L108P	possibly damaging	Het
Prss44	G	A	9: 110,646,271 (GRCm39)	V333M	probably damaging	Het
Ptprk	C	T	10: 28,471,807 (GRCm39)	R1432C	probably damaging	Het
Rpl36al	A	G	12: 69,229,708 (GRCm39)	L68P	probably damaging	Het
Tagap	T	C	17: 8,145,906 (GRCm39)	S26P	possibly damaging	Het
Vapb	A	G	2: 173,613,362 (GRCm39)	K87R	probably damaging	Het
Vmn1r35	G	A	6: 66,655,848 (GRCm39)	T274I	possibly damaging	Het
Wdsub1	A	T	2: 59,700,785 (GRCm39)		probably benign	Het
Xrcc5	C	T	1: 72,422,521 (GRCm39)	S651L	possibly damaging	Het
Zfyve27	T	A	19: 42,169,936 (GRCm39)		probably null	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
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'- GCAAACCCTAGCTTACCCTG -3'
(R):5'- TCATTCGGCAGCAGATTGAC -3'

Sequencing Primer
(F):5'- CTACCATAGGACAGCATCAAGGG -3'
(R):5'- TTGACTACAAGACCCTGGTGAGC -3'

Posted On

2018-06-22