Mutagenetix > Incidental Mutation

Incidental Mutation 'R5153:Plxna4'

395511

Institutional Source

Beutler Lab

Gene Symbol

Plxna4

Ensembl Gene

ENSMUSG00000029765

Gene Name

plexin A4

Synonyms

Plxa4

MMRRC Submission

042735-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.600) question?

Stock #

R5153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32121478-32565127 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 32201094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115096]

AlphaFold

Q80UG2

Predicted Effect

probably null
Transcript: ENSMUST00000115096

SMART Domains

Protein: ENSMUSP00000110748
Gene: ENSMUSG00000029765

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Sema	50	490	2.3e-131	SMART
PSI	508	558	2.21e-14	SMART
PSI	654	701	2.44e-7	SMART
PSI	802	855	1.2e-6	SMART
IPT	856	950	7.25e-16	SMART
IPT	952	1036	4.1e-15	SMART
IPT	1038	1138	2.86e-14	SMART
IPT	1140	1229	6.88e-1	SMART
transmembrane domain	1237	1259	N/A	INTRINSIC
Pfam:Plexin_cytopl	1310	1863	1.8e-264	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200732

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice exhibit defective trajecotory and projection of peripheral sensory axons and sympathetic ganglion axons and the formation of the anterior commissure and the barrels. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,073 (GRCm39)	C257S	unknown	Het
4930596D02Rik	C	A	14: 35,532,212 (GRCm39)	R121L	probably benign	Het
Aadacl4fm1	T	A	4: 144,248,837 (GRCm39)	M68K	probably benign	Het
Acin1	A	G	14: 54,883,070 (GRCm39)	V194A	probably benign	Het
Acsm1	T	C	7: 119,239,950 (GRCm39)	I298T	possibly damaging	Het
Aoc1	A	G	6: 48,885,681 (GRCm39)	N729D	probably benign	Het
Apobr	C	T	7: 126,186,904 (GRCm39)	T20I	possibly damaging	Het
Arsb	A	G	13: 94,077,106 (GRCm39)	E491G	probably benign	Het
AW209491	C	G	13: 14,811,764 (GRCm39)	Q206E	probably benign	Het
Camsap1	A	T	2: 25,823,630 (GRCm39)	N1473K	probably damaging	Het
Casp8	A	G	1: 58,884,004 (GRCm39)	Q457R	probably benign	Het
Ccdc154	G	A	17: 25,387,315 (GRCm39)	A350T	probably damaging	Het
Cecr2	A	G	6: 120,711,521 (GRCm39)	E183G	probably benign	Het
Cep295	A	T	9: 15,268,925 (GRCm39)	S39T	probably benign	Het
Cep350	A	T	1: 155,811,692 (GRCm39)	I416K	probably damaging	Het
Cidea	C	T	18: 67,500,490 (GRCm39)	T184M	probably damaging	Het
Cnot10	G	A	9: 114,442,803 (GRCm39)	A468V	probably damaging	Het
Cstdc1	A	G	2: 148,625,360 (GRCm39)	Q98R	probably benign	Het
Defb22	A	T	2: 152,327,722 (GRCm39)	N154K	unknown	Het
Dnah17	A	T	11: 117,973,800 (GRCm39)	C1915*	probably null	Het
Dnah2	T	C	11: 69,411,759 (GRCm39)	T288A	possibly damaging	Het
Dop1b	T	A	16: 93,570,891 (GRCm39)	M1512K	probably damaging	Het
Dsp	T	G	13: 38,366,282 (GRCm39)	I572S	probably damaging	Het
Eepd1	A	G	9: 25,498,049 (GRCm39)	H378R	probably benign	Het
Elapor1	A	T	3: 108,380,063 (GRCm39)	Y349N	possibly damaging	Het
Emilin2	A	G	17: 71,580,497 (GRCm39)	M743T	possibly damaging	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
F2rl2	A	G	13: 95,833,620 (GRCm39)	T17A	probably benign	Het
Fbxl8	T	G	8: 105,993,739 (GRCm39)	C32G	probably damaging	Het
Fbxw17	A	G	13: 50,573,897 (GRCm39)	T38A	probably damaging	Het
Flii	A	T	11: 60,607,512 (GRCm39)	L882Q	possibly damaging	Het
Focad	T	G	4: 88,278,121 (GRCm39)	S1197A	unknown	Het
H1f11-ps	A	G	19: 47,159,356 (GRCm39)	V73A	probably damaging	Het
Heatr5b	G	A	17: 79,102,536 (GRCm39)	R1281*	probably null	Het
Khdc3	A	G	9: 73,010,720 (GRCm39)	Q190R	probably benign	Het
Krt9	T	A	11: 100,082,068 (GRCm39)	D244V	probably damaging	Het
Ldhd	T	C	8: 112,353,724 (GRCm39)	E463G	probably benign	Het
Lig4	A	T	8: 10,023,003 (GRCm39)	V259E	possibly damaging	Het
Luc7l3	A	T	11: 94,186,806 (GRCm39)		probably benign	Het
Man1a2	T	C	3: 100,563,579 (GRCm39)	E22G	probably damaging	Het
Mmp23	T	G	4: 155,735,797 (GRCm39)	D258A	probably damaging	Het
Msantd2	C	T	9: 37,434,509 (GRCm39)	R250*	probably null	Het
Mynn	T	C	3: 30,665,738 (GRCm39)	S457P	probably benign	Het
Nectin1	C	T	9: 43,714,795 (GRCm39)	H50Y	probably damaging	Het
Or10a3b	T	C	7: 108,444,906 (GRCm39)	I104V	probably benign	Het
Or2d3c	C	T	7: 106,525,776 (GRCm39)	V297M	possibly damaging	Het
Or4a47	G	A	2: 89,665,578 (GRCm39)	T237I	possibly damaging	Het
Or6c6c	A	G	10: 129,541,026 (GRCm39)	N93S	probably benign	Het
Pfkfb2	G	A	1: 130,629,527 (GRCm39)	T303M	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,705 (GRCm39)	D841G	probably benign	Het
Podnl1	C	T	8: 84,857,272 (GRCm39)	H294Y	probably benign	Het
Ppig	T	A	2: 69,579,994 (GRCm39)	D509E	unknown	Het
Ppp1r16a	T	A	15: 76,578,596 (GRCm39)	Y433*	probably null	Het
Prdm1	A	C	10: 44,326,221 (GRCm39)	V134G	possibly damaging	Het
Prx	T	C	7: 27,217,901 (GRCm39)	S940P	probably damaging	Het
Ptprd	C	T	4: 75,930,339 (GRCm39)	V731I	probably damaging	Het
Qki	A	G	17: 10,457,820 (GRCm39)		probably null	Het
Rassf6	T	C	5: 90,754,699 (GRCm39)	K206R	possibly damaging	Het
Rdh16f2	G	A	10: 127,712,124 (GRCm39)	E194K	possibly damaging	Het
Rims1	C	A	1: 22,522,328 (GRCm39)	G457*	probably null	Het
Ripk1	T	G	13: 34,197,279 (GRCm39)	I123R	probably damaging	Het
Rnf111	A	T	9: 70,383,422 (GRCm39)	S170R	probably benign	Het
Shc3	A	T	13: 51,615,413 (GRCm39)	F181L	probably damaging	Het
Siglec1	A	C	2: 130,927,497 (GRCm39)	V103G	probably damaging	Het
Slc26a11	G	T	11: 119,268,085 (GRCm39)	A488S	possibly damaging	Het
Smoc2	A	T	17: 14,556,841 (GRCm39)	T97S	probably damaging	Het
Son	T	C	16: 91,451,910 (GRCm39)	I219T	possibly damaging	Het
Sptbn1	A	T	11: 30,071,510 (GRCm39)	I1474N	possibly damaging	Het
Syt16	A	T	12: 74,269,542 (GRCm39)	D127V	possibly damaging	Het
Tet1	G	T	10: 62,714,357 (GRCm39)	N479K	possibly damaging	Het
Thsd7a	G	A	6: 12,338,654 (GRCm39)	A1192V	probably benign	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Traj57	A	G	14: 54,396,016 (GRCm39)		probably benign	Het
Trpv1	G	T	11: 73,129,342 (GRCm39)	R86S	probably benign	Het
Usp48	T	A	4: 137,343,673 (GRCm39)	F434L	possibly damaging	Het
Vmn2r59	A	C	7: 41,691,834 (GRCm39)		probably null	Het
Vmn2r71	T	A	7: 85,268,430 (GRCm39)	I211N	possibly damaging	Het
Vps13b	T	A	15: 35,422,599 (GRCm39)	D186E	probably damaging	Het
Vps33a	A	G	5: 123,696,691 (GRCm39)	S321P	probably damaging	Het
Wdr12	A	T	1: 60,133,670 (GRCm39)	D19E	probably benign	Het
Zc3h12c	A	G	9: 52,037,947 (GRCm39)	F278L	probably damaging	Het
Zpld1	T	C	16: 55,067,007 (GRCm39)	T183A	probably damaging	Het
Zswim2	G	T	2: 83,770,010 (GRCm39)	T68K	possibly damaging	Het

Other mutations in Plxna4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Plxna4	APN	6	32,139,026 (GRCm39)	missense	probably damaging	1.00
IGL01395:Plxna4	APN	6	32,216,368 (GRCm39)	missense	probably damaging	0.99
IGL01506:Plxna4	APN	6	32,493,470 (GRCm39)	missense	probably damaging	1.00
IGL01606:Plxna4	APN	6	32,134,936 (GRCm39)	missense	probably damaging	1.00
IGL01753:Plxna4	APN	6	32,287,413 (GRCm39)	missense	probably benign	0.06
IGL01767:Plxna4	APN	6	32,214,613 (GRCm39)	missense	possibly damaging	0.51
IGL01968:Plxna4	APN	6	32,192,139 (GRCm39)	missense	possibly damaging	0.81
IGL02109:Plxna4	APN	6	32,192,576 (GRCm39)	missense	probably benign
IGL02299:Plxna4	APN	6	32,142,091 (GRCm39)	missense	probably benign	0.01
IGL02306:Plxna4	APN	6	32,183,059 (GRCm39)	missense	probably benign	0.19
IGL02312:Plxna4	APN	6	32,142,052 (GRCm39)	missense	possibly damaging	0.79
IGL02326:Plxna4	APN	6	32,129,840 (GRCm39)	missense	probably damaging	0.99
IGL02658:Plxna4	APN	6	32,162,346 (GRCm39)	missense	probably damaging	1.00
IGL02683:Plxna4	APN	6	32,494,541 (GRCm39)	missense	probably benign	0.03
IGL02701:Plxna4	APN	6	32,494,494 (GRCm39)	missense	probably benign	0.01
IGL02995:Plxna4	APN	6	32,493,530 (GRCm39)	missense	probably damaging	1.00
IGL03030:Plxna4	APN	6	32,179,160 (GRCm39)	missense	probably benign	0.01
IGL03264:Plxna4	APN	6	32,155,337 (GRCm39)	missense	possibly damaging	0.64
IGL03304:Plxna4	APN	6	32,141,986 (GRCm39)	splice site	probably benign
IGL03382:Plxna4	APN	6	32,179,129 (GRCm39)	missense	probably benign	0.23
corona	UTSW	6	32,494,199 (GRCm39)	missense	probably damaging	1.00
Disposed	UTSW	6	32,493,440 (GRCm39)	missense	probably damaging	1.00
inclined	UTSW	6	32,214,658 (GRCm39)	nonsense	probably null
Slope	UTSW	6	32,211,541 (GRCm39)	missense	probably benign	0.00
G4846:Plxna4	UTSW	6	32,169,207 (GRCm39)	missense	probably damaging	1.00
R0133:Plxna4	UTSW	6	32,174,009 (GRCm39)	missense	probably benign	0.00
R0200:Plxna4	UTSW	6	32,174,023 (GRCm39)	missense	probably damaging	0.99
R0308:Plxna4	UTSW	6	32,214,703 (GRCm39)	missense	probably benign	0.01
R0468:Plxna4	UTSW	6	32,192,181 (GRCm39)	missense	probably damaging	1.00
R0505:Plxna4	UTSW	6	32,179,054 (GRCm39)	missense	probably benign
R0542:Plxna4	UTSW	6	32,169,232 (GRCm39)	missense	probably damaging	1.00
R0548:Plxna4	UTSW	6	32,134,950 (GRCm39)	missense	probably damaging	1.00
R0652:Plxna4	UTSW	6	32,162,436 (GRCm39)	missense	probably damaging	1.00
R1144:Plxna4	UTSW	6	32,174,091 (GRCm39)	missense	possibly damaging	0.58
R1190:Plxna4	UTSW	6	32,228,071 (GRCm39)	missense	probably damaging	1.00
R1228:Plxna4	UTSW	6	32,201,087 (GRCm39)	splice site	probably null
R1569:Plxna4	UTSW	6	32,162,410 (GRCm39)	missense	possibly damaging	0.78
R1803:Plxna4	UTSW	6	32,494,379 (GRCm39)	missense	probably damaging	0.98
R1832:Plxna4	UTSW	6	32,174,761 (GRCm39)	missense	probably benign	0.01
R2068:Plxna4	UTSW	6	32,494,551 (GRCm39)	missense	possibly damaging	0.66
R2157:Plxna4	UTSW	6	32,493,909 (GRCm39)	missense	probably benign	0.00
R2842:Plxna4	UTSW	6	32,192,566 (GRCm39)	critical splice donor site	probably null
R2849:Plxna4	UTSW	6	32,162,467 (GRCm39)	missense	probably damaging	1.00
R2892:Plxna4	UTSW	6	32,493,972 (GRCm39)	missense	probably damaging	1.00
R2930:Plxna4	UTSW	6	32,142,715 (GRCm39)	missense	probably damaging	1.00
R3892:Plxna4	UTSW	6	32,192,589 (GRCm39)	missense	probably damaging	1.00
R4065:Plxna4	UTSW	6	32,213,300 (GRCm39)	nonsense	probably null
R4276:Plxna4	UTSW	6	32,177,883 (GRCm39)	missense	probably benign	0.29
R4307:Plxna4	UTSW	6	32,140,444 (GRCm39)	missense	probably damaging	0.99
R4331:Plxna4	UTSW	6	32,127,480 (GRCm39)	nonsense	probably null
R4478:Plxna4	UTSW	6	32,173,068 (GRCm39)	missense	possibly damaging	0.89
R4529:Plxna4	UTSW	6	32,473,831 (GRCm39)	critical splice acceptor site	probably null
R4566:Plxna4	UTSW	6	32,494,338 (GRCm39)	missense	probably benign	0.00
R4568:Plxna4	UTSW	6	32,129,873 (GRCm39)	missense	probably damaging	1.00
R4664:Plxna4	UTSW	6	32,493,885 (GRCm39)	missense	possibly damaging	0.88
R4685:Plxna4	UTSW	6	32,142,779 (GRCm39)	missense	probably damaging	1.00
R4701:Plxna4	UTSW	6	32,493,623 (GRCm39)	missense	probably damaging	0.99
R4939:Plxna4	UTSW	6	32,142,697 (GRCm39)	missense	probably damaging	1.00
R5181:Plxna4	UTSW	6	32,493,932 (GRCm39)	missense	probably damaging	1.00
R5256:Plxna4	UTSW	6	32,228,007 (GRCm39)	missense	probably benign	0.03
R5259:Plxna4	UTSW	6	32,493,956 (GRCm39)	missense	possibly damaging	0.89
R5306:Plxna4	UTSW	6	32,183,056 (GRCm39)	missense	probably damaging	0.99
R5487:Plxna4	UTSW	6	32,494,218 (GRCm39)	missense	probably damaging	1.00
R5510:Plxna4	UTSW	6	32,155,293 (GRCm39)	missense	probably damaging	0.96
R5542:Plxna4	UTSW	6	32,183,165 (GRCm39)	missense	probably damaging	1.00
R5567:Plxna4	UTSW	6	32,134,915 (GRCm39)	missense	possibly damaging	0.61
R5634:Plxna4	UTSW	6	32,214,658 (GRCm39)	nonsense	probably null
R5653:Plxna4	UTSW	6	32,494,551 (GRCm39)	missense	possibly damaging	0.66
R5665:Plxna4	UTSW	6	32,192,657 (GRCm39)	missense	probably damaging	1.00
R5845:Plxna4	UTSW	6	32,214,711 (GRCm39)	missense	probably damaging	1.00
R5909:Plxna4	UTSW	6	32,494,181 (GRCm39)	missense	probably damaging	1.00
R5938:Plxna4	UTSW	6	32,211,541 (GRCm39)	missense	probably benign	0.00
R5973:Plxna4	UTSW	6	32,228,000 (GRCm39)	splice site	probably null
R6433:Plxna4	UTSW	6	32,192,613 (GRCm39)	missense	probably damaging	0.97
R6482:Plxna4	UTSW	6	32,493,672 (GRCm39)	missense	probably benign
R6560:Plxna4	UTSW	6	32,192,613 (GRCm39)	missense	probably damaging	0.97
R6721:Plxna4	UTSW	6	32,177,794 (GRCm39)	missense	probably benign	0.26
R6810:Plxna4	UTSW	6	32,287,457 (GRCm39)	missense	probably benign	0.18
R6985:Plxna4	UTSW	6	32,214,643 (GRCm39)	missense	probably damaging	1.00
R7024:Plxna4	UTSW	6	32,169,204 (GRCm39)	missense	probably damaging	1.00
R7046:Plxna4	UTSW	6	32,493,440 (GRCm39)	missense	probably damaging	1.00
R7137:Plxna4	UTSW	6	32,494,199 (GRCm39)	missense	probably damaging	1.00
R7163:Plxna4	UTSW	6	32,473,691 (GRCm39)	missense	probably benign	0.01
R7199:Plxna4	UTSW	6	32,192,113 (GRCm39)	nonsense	probably null
R7248:Plxna4	UTSW	6	32,139,095 (GRCm39)	missense	probably damaging	0.99
R7260:Plxna4	UTSW	6	32,216,455 (GRCm39)	missense	possibly damaging	0.79
R7361:Plxna4	UTSW	6	32,173,057 (GRCm39)	critical splice donor site	probably null
R7383:Plxna4	UTSW	6	32,129,734 (GRCm39)	critical splice donor site	probably null
R7405:Plxna4	UTSW	6	32,173,254 (GRCm39)	missense	probably benign	0.00
R7516:Plxna4	UTSW	6	32,214,703 (GRCm39)	missense	probably benign	0.00
R7635:Plxna4	UTSW	6	32,473,676 (GRCm39)	missense	probably damaging	0.98
R7754:Plxna4	UTSW	6	32,129,807 (GRCm39)	missense	probably damaging	1.00
R7763:Plxna4	UTSW	6	32,200,915 (GRCm39)	missense	probably damaging	0.99
R7789:Plxna4	UTSW	6	32,183,168 (GRCm39)	critical splice acceptor site	probably null
R8167:Plxna4	UTSW	6	32,493,981 (GRCm39)	missense	probably damaging	0.99
R8191:Plxna4	UTSW	6	32,493,885 (GRCm39)	missense	possibly damaging	0.88
R8225:Plxna4	UTSW	6	32,139,038 (GRCm39)	missense	probably damaging	1.00
R8284:Plxna4	UTSW	6	32,129,789 (GRCm39)	missense	probably benign	0.25
R8305:Plxna4	UTSW	6	32,188,000 (GRCm39)	missense	possibly damaging	0.81
R8438:Plxna4	UTSW	6	32,179,115 (GRCm39)	missense	probably damaging	1.00
R8493:Plxna4	UTSW	6	32,192,647 (GRCm39)	missense	probably benign	0.27
R8714:Plxna4	UTSW	6	32,140,379 (GRCm39)	nonsense	probably null
R8759:Plxna4	UTSW	6	32,169,276 (GRCm39)	missense	probably damaging	1.00
R8822:Plxna4	UTSW	6	32,127,431 (GRCm39)	missense	possibly damaging	0.89
R8844:Plxna4	UTSW	6	32,174,026 (GRCm39)	missense	probably benign	0.11
R8974:Plxna4	UTSW	6	32,216,447 (GRCm39)	missense	possibly damaging	0.79
R9020:Plxna4	UTSW	6	32,211,497 (GRCm39)	missense	possibly damaging	0.90
R9144:Plxna4	UTSW	6	32,162,496 (GRCm39)	missense	possibly damaging	0.77
R9206:Plxna4	UTSW	6	32,494,379 (GRCm39)	missense	probably damaging	0.98
R9208:Plxna4	UTSW	6	32,494,379 (GRCm39)	missense	probably damaging	0.98
R9257:Plxna4	UTSW	6	32,139,018 (GRCm39)	missense	probably damaging	0.99
R9269:Plxna4	UTSW	6	32,155,315 (GRCm39)	missense	probably benign	0.00
R9411:Plxna4	UTSW	6	32,159,682 (GRCm39)	missense	probably damaging	1.00
R9469:Plxna4	UTSW	6	32,494,526 (GRCm39)	missense	probably benign
R9583:Plxna4	UTSW	6	32,192,169 (GRCm39)	missense	possibly damaging	0.78
R9647:Plxna4	UTSW	6	32,228,044 (GRCm39)	missense	probably damaging	1.00
R9695:Plxna4	UTSW	6	32,183,056 (GRCm39)	missense	probably benign	0.02
R9801:Plxna4	UTSW	6	32,140,526 (GRCm39)	critical splice acceptor site	probably null
V1024:Plxna4	UTSW	6	32,211,509 (GRCm39)	missense	probably damaging	1.00
X0027:Plxna4	UTSW	6	32,493,979 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACACTGGAGCTGTTGAAG -3'
(R):5'- GAGCATCTTGGGTGGTATAAACTG -3'

Sequencing Primer
(F):5'- GCTGTTGAAGCGCAGAGC -3'
(R):5'- CTGGCACTAAAATTAACCTGAAGAG -3'

Posted On

2016-06-21