Mutagenetix > Incidental Mutation

Incidental Mutation 'R9269:Plxna1'

702750

Institutional Source

Beutler Lab

Gene Symbol

Plxna1

Ensembl Gene

ENSMUSG00000030084

Gene Name

plexin A1

Synonyms

NOV, Plxn1, PlexA1, 2600013D04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R9269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89316314-89362620 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89329559 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1430 (R1430G)

Ref Sequence

ENSEMBL: ENSMUSP00000063066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049845] [ENSMUST00000163139]

AlphaFold

P70206

PDB Structure

The Plexin A1 intracellular region in complex with Rac1 [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000049845
AA Change: R1430G

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

SMART Domains

Protein: ENSMUSP00000063066
Gene: ENSMUSG00000030084
AA Change: R1430G

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: R1430G

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

SMART Domains

Protein: ENSMUSP00000131840
Gene: ENSMUSG00000030084
AA Change: R1430G

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

probably benign
Transcript: ENSMUST00000204468

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	C	15: 8,219,016	Q1683P	probably damaging	Het
A2m	T	C	6: 121,660,906	S845P	probably benign	Het
Actn1	T	A	12: 80,172,971	N709Y	probably benign	Het
Alox5ap	A	G	5: 149,279,196	Y64C	probably damaging	Het
Anapc4	T	A	5: 52,861,278	S521T	possibly damaging	Het
Ap3b1	C	A	13: 94,404,062	P164Q	probably damaging	Het
Arhgef26	A	G	3: 62,340,499	N335D	probably damaging	Het
Arrdc2	G	A	8: 70,836,329	A354V	probably benign	Het
Atg2b	A	G	12: 105,652,100	S898P	probably damaging	Het
Atxn1	T	A	13: 45,557,204	T751S	probably benign	Het
Begain	T	A	12: 109,033,193	R551W	possibly damaging	Het
Borcs8	C	A	8: 70,141,871	D15E	probably benign	Het
Btbd16	C	T	7: 130,815,786	R344C	probably damaging	Het
Card11	A	T	5: 140,906,761	M183K	probably damaging	Het
Cldn3	T	C	5: 134,986,725	L94P	probably damaging	Het
Clvs2	A	T	10: 33,543,426	Y211N	probably damaging	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Cop1	C	T	1: 159,288,983	P409L	probably benign	Het
Crhbp	C	A	13: 95,436,516	A241S	probably benign	Het
Cyfip1	C	A	7: 55,907,431	S794*	probably null	Het
D17Wsu92e	A	C	17: 27,786,075	Y169*	probably null	Het
Dlg5	T	A	14: 24,192,813	H172L	probably damaging	Het
Doc2a	T	A	7: 126,850,987	I199N	probably benign	Het
Dock3	T	C	9: 106,941,323	T1191A	probably benign	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Fcgr1	C	T	3: 96,285,838	R281H	probably benign	Het
Fndc10	T	C	4: 155,694,748	V83A	possibly damaging	Het
Galnt2	T	A	8: 124,338,463	I444K	probably benign	Het
Gcnt3	T	C	9: 70,034,008	Y426C	probably damaging	Het
Gm5580	C	T	6: 116,552,356	T398I	probably damaging	Het
Gtpbp1	C	T	15: 79,717,654	R533C	probably damaging	Het
Hid1	T	C	11: 115,361,676	E60G	probably damaging	Het
Ighv1-81	A	T	12: 115,920,541	L30Q	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,654,945		probably null	Het
Klf10	A	G	15: 38,297,758	L44P	probably damaging	Het
Lamc3	T	C	2: 31,923,005	V1001A	probably benign	Het
Lamc3	C	A	2: 31,928,896	S1211*	probably null	Het
Lmx1a	T	A	1: 167,830,625	H192Q	probably benign	Het
Nkx2-4	T	C	2: 147,084,264	H226R	possibly damaging	Het
Olfr1046	T	C	2: 86,216,903	H269R	probably damaging	Het
Olfr1179	G	A	2: 88,402,242	R231C	probably benign	Het
Olfr1240	T	A	2: 89,439,932	M116L	probably damaging	Het
Olfr1281	T	C	2: 111,328,952	F178L	probably damaging	Het
Olfr1453	T	C	19: 13,027,630	H233R	probably benign	Het
Olfr1468-ps1	A	T	19: 13,375,640	N226I	unknown	Het
Olfr472	T	A	7: 107,903,320	I201N	possibly damaging	Het
Olfr715	T	C	7: 107,128,626	I256V	probably benign	Het
Olfr869	T	C	9: 20,137,461	M115T	probably damaging	Het
Orai3	G	T	7: 127,774,022	A232S	probably benign	Het
Pak1ip1	G	A	13: 41,009,251	G177R	probably benign	Het
Pcp4l1	T	C	1: 171,174,406	R62G	possibly damaging	Het
Phox2b	T	A	5: 67,098,721	Q74L	probably benign	Het
Pi4kb	A	G	3: 94,984,486	Y159C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plxna4	T	C	6: 32,178,380	H1543R	probably benign	Het
Prcc	A	T	3: 87,869,731	F312Y	probably damaging	Het
Ranbp6	A	G	19: 29,809,988	L988P	probably damaging	Het
Rbm27	A	G	18: 42,327,507	T840A	probably benign	Het
Rchy1	G	T	5: 91,957,972	T39N	probably benign	Het
Rmi1	C	T	13: 58,409,026	T363I	probably benign	Het
Rnpc3	A	C	3: 113,611,246	I420S	probably damaging	Het
Rsph4a	T	A	10: 33,909,398	V435E	probably benign	Het
Rwdd1	T	C	10: 34,012,099	T38A	probably damaging	Het
S100a13	G	T	3: 90,515,863	D54Y	unknown	Het
Sel1l3	T	C	5: 53,154,286	Y619C	probably damaging	Het
Sf3b3	T	C	8: 110,812,026	T1121A	probably damaging	Het
Sgk3	T	C	1: 9,872,309	V102A	probably benign	Het
Sh2b1	T	C	7: 126,469,182	T486A	probably damaging	Het
Slc22a5	C	T	11: 53,876,155	R169H	probably damaging	Het
Slc4a5	T	C	6: 83,289,241	V889A	possibly damaging	Het
Spast	C	A	17: 74,339,074	S13*	probably null	Het
Srek1	T	C	13: 103,753,146		probably null	Het
Sugp1	G	T	8: 70,056,570	E164D	probably benign	Het
Synpo2	T	C	3: 123,117,324	D224G	probably benign	Het
Tanc1	A	G	2: 59,800,088	D804G	probably damaging	Het
Tep1	C	T	14: 50,844,309	C1228Y	probably damaging	Het
Tes	T	A	6: 17,100,342	C325S	probably benign	Het
Themis	T	C	10: 28,863,394	V620A	probably benign	Het
Trim17	T	C	11: 58,971,431	S430P	probably damaging	Het
Tubgcp5	T	C	7: 55,795,945	I65T	possibly damaging	Het
Unc13b	T	C	4: 43,171,955	S928P	unknown	Het
Vat1l	C	T	8: 114,289,432	A354V	probably damaging	Het
Vmn1r170	T	A	7: 23,606,838	S222T	probably benign	Het
Vmn2r112	A	T	17: 22,601,232	M29L	probably benign	Het
Vmn2r72	T	C	7: 85,751,203	I213V	probably benign	Het
Wdr89	T	A	12: 75,632,790	Q230L	possibly damaging	Het
Zfp386	A	G	12: 116,059,663	T334A	probably benign	Het
Zfp442	T	A	2: 150,409,367	H205L	probably benign	Het
Zfyve26	A	T	12: 79,276,302	I890N	possibly damaging	Het
Zic1	T	C	9: 91,364,320	E233G	probably damaging	Het

Other mutations in Plxna1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Plxna1	APN	6	89320998	missense	probably damaging	1.00
IGL01358:Plxna1	APN	6	89322750	missense	probably damaging	1.00
IGL01475:Plxna1	APN	6	89354888	missense	possibly damaging	0.92
IGL01480:Plxna1	APN	6	89344096	missense	possibly damaging	0.70
IGL01585:Plxna1	APN	6	89329556	critical splice donor site	probably null
IGL01804:Plxna1	APN	6	89329646	missense	probably damaging	1.00
IGL01909:Plxna1	APN	6	89332084	critical splice donor site	probably null
IGL01989:Plxna1	APN	6	89329414	nonsense	probably null
IGL02015:Plxna1	APN	6	89342451	missense	probably damaging	1.00
IGL02023:Plxna1	APN	6	89357332	missense	possibly damaging	0.88
IGL02668:Plxna1	APN	6	89357269	nonsense	probably null
IGL02703:Plxna1	APN	6	89356943	missense	probably damaging	1.00
IGL02954:Plxna1	APN	6	89324667	missense	probably damaging	1.00
IGL03212:Plxna1	APN	6	89331903	missense	probably damaging	1.00
PIT4544001:Plxna1	UTSW	6	89357429	missense	probably benign	0.14
R0055:Plxna1	UTSW	6	89329739	missense	possibly damaging	0.94
R0055:Plxna1	UTSW	6	89329739	missense	possibly damaging	0.94
R0147:Plxna1	UTSW	6	89320710	missense	possibly damaging	0.95
R0149:Plxna1	UTSW	6	89320613	missense	probably null	0.95
R0166:Plxna1	UTSW	6	89333019	missense	probably damaging	1.00
R0200:Plxna1	UTSW	6	89323593	missense	probably damaging	1.00
R0415:Plxna1	UTSW	6	89357336	missense	probably benign	0.12
R0841:Plxna1	UTSW	6	89332204	missense	probably damaging	1.00
R1018:Plxna1	UTSW	6	89342960	missense	probably damaging	1.00
R1240:Plxna1	UTSW	6	89321050	missense	probably damaging	1.00
R1355:Plxna1	UTSW	6	89320766	unclassified	probably benign
R1700:Plxna1	UTSW	6	89357008	missense	probably damaging	1.00
R1776:Plxna1	UTSW	6	89335464	missense	probably benign	0.00
R1957:Plxna1	UTSW	6	89331291	missense	probably damaging	1.00
R2314:Plxna1	UTSW	6	89324316	missense	probably damaging	1.00
R2968:Plxna1	UTSW	6	89342608	missense	probably damaging	1.00
R3118:Plxna1	UTSW	6	89356976	missense	possibly damaging	0.89
R3522:Plxna1	UTSW	6	89337353	critical splice acceptor site	probably null
R3619:Plxna1	UTSW	6	89357453	missense	probably damaging	0.97
R3766:Plxna1	UTSW	6	89334775	unclassified	probably benign
R3847:Plxna1	UTSW	6	89356519	missense	probably damaging	1.00
R3849:Plxna1	UTSW	6	89356519	missense	probably damaging	1.00
R3872:Plxna1	UTSW	6	89332692	nonsense	probably null
R4555:Plxna1	UTSW	6	89323328	missense	probably damaging	0.99
R4709:Plxna1	UTSW	6	89334751	missense	possibly damaging	0.72
R4726:Plxna1	UTSW	6	89322816	missense	probably damaging	1.00
R4739:Plxna1	UTSW	6	89332675	splice site	probably null
R5053:Plxna1	UTSW	6	89322460	missense	probably damaging	1.00
R5221:Plxna1	UTSW	6	89321016	missense	probably damaging	1.00
R5449:Plxna1	UTSW	6	89323608	missense	probably damaging	1.00
R5480:Plxna1	UTSW	6	89324634	missense	probably damaging	1.00
R5575:Plxna1	UTSW	6	89324541	missense	possibly damaging	0.83
R5743:Plxna1	UTSW	6	89356529	missense	probably damaging	1.00
R5744:Plxna1	UTSW	6	89334682	missense	possibly damaging	0.67
R5754:Plxna1	UTSW	6	89333105	missense	possibly damaging	0.96
R5868:Plxna1	UTSW	6	89322722	splice site	probably benign
R5988:Plxna1	UTSW	6	89357540	nonsense	probably null
R6190:Plxna1	UTSW	6	89356604	nonsense	probably null
R6425:Plxna1	UTSW	6	89334665	missense	probably benign	0.00
R6561:Plxna1	UTSW	6	89356978	missense	probably damaging	1.00
R6623:Plxna1	UTSW	6	89322771	missense	probably damaging	1.00
R6638:Plxna1	UTSW	6	89324400	missense	probably damaging	0.97
R6701:Plxna1	UTSW	6	89319448	missense	probably damaging	0.99
R6825:Plxna1	UTSW	6	89320615	missense	probably benign	0.01
R6911:Plxna1	UTSW	6	89320974	missense	probably damaging	1.00
R7073:Plxna1	UTSW	6	89357329	missense	probably damaging	1.00
R7177:Plxna1	UTSW	6	89323329	missense	possibly damaging	0.50
R7235:Plxna1	UTSW	6	89340591	missense	probably damaging	0.97
R7419:Plxna1	UTSW	6	89357602	missense	unknown
R7511:Plxna1	UTSW	6	89341907	missense	possibly damaging	0.71
R7543:Plxna1	UTSW	6	89322855	missense	probably damaging	1.00
R7665:Plxna1	UTSW	6	89324538	critical splice donor site	probably null
R7678:Plxna1	UTSW	6	89331900	missense	probably damaging	0.99
R7748:Plxna1	UTSW	6	89337352	critical splice acceptor site	probably null
R7748:Plxna1	UTSW	6	89337353	critical splice acceptor site	probably null
R7877:Plxna1	UTSW	6	89323259	missense	probably damaging	0.99
R8025:Plxna1	UTSW	6	89331272	missense	probably damaging	1.00
R8171:Plxna1	UTSW	6	89357120	missense	probably benign	0.20
R8277:Plxna1	UTSW	6	89357180	missense	probably damaging	1.00
R8782:Plxna1	UTSW	6	89323238	missense	probably damaging	1.00
R8867:Plxna1	UTSW	6	89333097	missense	probably benign	0.00
R9245:Plxna1	UTSW	6	89337338	missense	probably damaging	1.00
R9253:Plxna1	UTSW	6	89357540	nonsense	probably null
R9273:Plxna1	UTSW	6	89319382	missense	possibly damaging	0.77
R9281:Plxna1	UTSW	6	89323331	missense	probably damaging	1.00
R9368:Plxna1	UTSW	6	89337156	missense	probably benign
R9440:Plxna1	UTSW	6	89341930	missense	probably benign	0.00
R9526:Plxna1	UTSW	6	89342651	missense	probably benign
R9601:Plxna1	UTSW	6	89331271	missense	probably damaging	1.00
R9714:Plxna1	UTSW	6	89319458	missense	probably damaging	0.99
R9782:Plxna1	UTSW	6	89356835	missense	probably benign	0.01
S24628:Plxna1	UTSW	6	89357336	missense	probably benign	0.12
V8831:Plxna1	UTSW	6	89357137	missense	probably damaging	0.99
Z1176:Plxna1	UTSW	6	89321052	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTACCTTGAGGAACTTATACAAAAG -3'
(R):5'- GACAGCTGTTGACCAAGAAGC -3'

Sequencing Primer
(F):5'- CTTATACAAAAGGAAGGTGAACCAG -3'
(R):5'- GCTGTTGACCAAGAAGCATTTCC -3'

Posted On

2022-03-25