Mutagenetix > Incidental Mutation

Incidental Mutation 'R1018:Plxna1'

96579

Institutional Source

Beutler Lab

Gene Symbol

Plxna1

Ensembl Gene

ENSMUSG00000030084

Gene Name

plexin A1

Synonyms

NOV, PlexA1, Plxn1, 2600013D04Rik

MMRRC Submission

039122-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R1018 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

89293295-89339595 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89319942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 535 (L535P)

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: L535P

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

SMART Domains

Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: L535P

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: L535P

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

SMART Domains

Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: L535P

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

probably benign
Transcript: ENSMUST00000205121

Meta Mutation Damage Score

0.9532

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.7%

Validation Efficiency

100% (50/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,837,325 (GRCm39)	C403F	probably damaging	Het
Adam20	C	T	8: 41,249,146 (GRCm39)	Q419*	probably null	Het
Ankrd36	C	T	11: 5,596,876 (GRCm39)		probably benign	Het
Arl8b	T	A	6: 108,795,572 (GRCm39)	I170K	probably damaging	Het
Atp5pb	A	T	3: 105,861,488 (GRCm39)	V78E	possibly damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cgnl1	A	G	9: 71,633,340 (GRCm39)	Y4H	probably damaging	Het
Cnn2	T	C	10: 79,829,397 (GRCm39)	C176R	probably damaging	Het
Dst	A	G	1: 34,233,174 (GRCm39)	D3392G	probably damaging	Het
Eed	T	C	7: 89,617,019 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,412,221 (GRCm39)	V870E	possibly damaging	Het
Epx	T	C	11: 87,760,129 (GRCm39)	N495S	probably benign	Het
Fbxw20	T	A	9: 109,050,404 (GRCm39)	Y407F	probably benign	Het
Gbp9	T	A	5: 105,228,126 (GRCm39)	Q552L	probably benign	Het
Hspa13	C	A	16: 75,558,164 (GRCm39)	V134L	possibly damaging	Het
Il16	T	C	7: 83,323,746 (GRCm39)	N268S	probably damaging	Het
Kif14	G	A	1: 136,423,579 (GRCm39)		probably benign	Het
Lrig1	G	A	6: 94,599,583 (GRCm39)		probably benign	Het
Myo7a	T	A	7: 97,756,212 (GRCm39)	D29V	probably damaging	Het
Nsd2	A	G	5: 34,000,585 (GRCm39)	K34R	probably damaging	Het
Or4a15	C	A	2: 89,193,523 (GRCm39)	L83F	possibly damaging	Het
P3h1	C	A	4: 119,095,104 (GRCm39)	T287K	probably damaging	Het
Pkhd1	A	T	1: 20,271,483 (GRCm39)	H3023Q	possibly damaging	Het
Prom1	A	T	5: 44,187,056 (GRCm39)	S400R	probably benign	Het
Psap	T	G	10: 60,136,590 (GRCm39)	L523R	probably damaging	Het
Psme4	C	T	11: 30,754,310 (GRCm39)	T189I	probably damaging	Het
Ptpn12	A	T	5: 21,234,867 (GRCm39)	S39T	possibly damaging	Het
Qtrt2	T	A	16: 43,698,363 (GRCm39)	H98L	possibly damaging	Het
Rad54l2	C	A	9: 106,589,589 (GRCm39)	C601F	probably benign	Het
Saxo4	A	T	19: 10,456,824 (GRCm39)		probably benign	Het
Sfswap	A	G	5: 129,631,640 (GRCm39)	K756R	possibly damaging	Het
Slc24a5	T	C	2: 124,910,827 (GRCm39)	V86A	probably damaging	Het
Srrm2	T	C	17: 24,041,514 (GRCm39)	S2575P	probably damaging	Het
Stam	T	C	2: 14,122,185 (GRCm39)		probably benign	Het
Tbx6	T	A	7: 126,382,364 (GRCm39)		probably benign	Het
Tmem131	A	C	1: 36,833,900 (GRCm39)	F1727V	probably damaging	Het
Tpr	T	A	1: 150,317,934 (GRCm39)	H2147Q	possibly damaging	Het
Trio	T	A	15: 27,871,257 (GRCm39)	H620L	probably damaging	Het
Uba5	T	C	9: 103,927,102 (GRCm39)	T292A	probably benign	Het
Unc5a	T	A	13: 55,138,765 (GRCm39)	V48E	possibly damaging	Het
Upf1	G	T	8: 70,791,556 (GRCm39)	H514Q	possibly damaging	Het
Usp9y	A	G	Y: 1,341,414 (GRCm39)		probably benign	Het
Vmn2r6	T	A	3: 64,464,261 (GRCm39)	D191V	probably benign	Het
Wapl	T	C	14: 34,413,863 (GRCm39)	Y242H	possibly damaging	Het
Zfp341	A	T	2: 154,487,972 (GRCm39)	N812Y	probably damaging	Het
Zfp358	C	A	8: 3,546,843 (GRCm39)	S475*	probably null	Het
Zfp957	C	A	14: 79,450,182 (GRCm39)	C539F	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
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

Predicted Primers

PCR Primer
(F):5'- GGGACATGGTGACTGACACATTGC -3'
(R):5'- TAGCTGCCTGCCTTGGAACTCTTG -3'

Sequencing Primer
(F):5'- TATAGGTCCAGAGTCTCCAGG -3'
(R):5'- ATTGACCCACTTGGCCTGG -3'

Posted On

2014-01-05