Mutagenetix > Incidental Mutation

Incidental Mutation 'R2157:Plxna4'

234902

Institutional Source

Beutler Lab

Gene Symbol

Plxna4

Ensembl Gene

ENSMUSG00000029765

Gene Name

plexin A4

Synonyms

Plxa4

MMRRC Submission

040160-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.616) question?

Stock #

R2157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32121478-32565127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32493909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 236 (I236V)

Ref Sequence

ENSEMBL: ENSMUSP00000110748 (fasta)

Gene Model

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

AlphaFold

Q80UG2

Predicted Effect

probably benign
Transcript: ENSMUST00000115096
AA Change: I236V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000110748
Gene: ENSMUSG00000029765
AA Change: I236V

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: ENSMUST00000150314

Meta Mutation Damage Score

0.0579

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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
2310022B05Rik	A	T	8: 125,378,168 (GRCm39)		probably benign	Het
4930590J08Rik	T	A	6: 91,919,468 (GRCm39)	M709K	possibly damaging	Het
4930590J08Rik	A	G	6: 91,894,679 (GRCm39)		probably null	Het
A930011G23Rik	T	G	5: 99,379,956 (GRCm39)	I394L	probably damaging	Het
Abca13	A	C	11: 9,527,170 (GRCm39)	M4528L	probably damaging	Het
Abcb1b	G	A	5: 8,874,791 (GRCm39)	A484T	probably benign	Het
Actn1	A	T	12: 80,219,891 (GRCm39)	M660K	probably benign	Het
Adgra3	G	T	5: 50,159,283 (GRCm39)	N322K	possibly damaging	Het
Ahnak	A	G	19: 8,978,048 (GRCm39)	I56V	possibly damaging	Het
Amotl2	A	G	9: 102,607,788 (GRCm39)		probably benign	Het
Apoa1	T	C	9: 46,140,471 (GRCm39)	V34A	probably damaging	Het
Arrdc1	G	A	2: 24,816,987 (GRCm39)	A113V	probably damaging	Het
As3mt	A	G	19: 46,696,231 (GRCm39)	D13G	probably benign	Het
Cald1	A	G	6: 34,662,976 (GRCm39)	Q13R	possibly damaging	Het
Ccdc28a	G	A	10: 18,106,203 (GRCm39)	T41I	probably benign	Het
Ccdc30	A	T	4: 119,190,921 (GRCm39)		probably benign	Het
Cct2	T	C	10: 116,898,714 (GRCm39)		probably benign	Het
Cdh12	T	C	15: 21,583,873 (GRCm39)	I571T	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Ckm	T	C	7: 19,155,279 (GRCm39)	S372P	probably benign	Het
Comp	C	T	8: 70,832,220 (GRCm39)	Q554*	probably null	Het
Csf2ra	T	C	19: 61,215,509 (GRCm39)	T70A	probably benign	Het
Csmd3	T	C	15: 47,559,183 (GRCm39)	E2256G	probably damaging	Het
Dicer1	A	T	12: 104,669,208 (GRCm39)	V1158D	probably benign	Het
Dner	A	G	1: 84,361,659 (GRCm39)	F650S	possibly damaging	Het
Dnm3	T	C	1: 162,135,462 (GRCm39)	N437S	possibly damaging	Het
Dpy19l2	T	C	9: 24,592,076 (GRCm39)	I176V	probably benign	Het
Dpy19l2	A	T	9: 24,495,928 (GRCm39)	C597S	probably benign	Het
Edf1	T	C	2: 25,448,043 (GRCm39)		probably null	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Enpp3	A	G	10: 24,652,776 (GRCm39)	F727S	probably damaging	Het
Epb42	C	T	2: 120,852,243 (GRCm39)	M583I	probably benign	Het
Foxred1	A	G	9: 35,116,659 (GRCm39)	F117S	probably damaging	Het
Fstl5	T	A	3: 76,615,372 (GRCm39)	M811K	possibly damaging	Het
Gm5117	A	T	8: 32,228,222 (GRCm39)		noncoding transcript	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
Grik1	G	A	16: 87,853,012 (GRCm39)	A57V	probably damaging	Het
Hdgfl2	G	A	17: 56,405,691 (GRCm39)	V476I	possibly damaging	Het
Il17b	G	T	18: 61,823,439 (GRCm39)	W91L	probably damaging	Het
Jph4	C	A	14: 55,350,984 (GRCm39)	R344L	probably benign	Het
Map3k21	A	G	8: 126,664,005 (GRCm39)	D522G	probably benign	Het
Mast2	A	G	4: 116,179,480 (GRCm39)	L398S	probably damaging	Het
Mbtd1	A	G	11: 93,801,214 (GRCm39)	T132A	probably benign	Het
Mbtps1	G	T	8: 120,269,466 (GRCm39)	T208K	probably benign	Het
Mr1	A	G	1: 155,022,376 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,828,240 (GRCm39)	L140F	probably damaging	Het
Mybpc2	C	G	7: 44,159,269 (GRCm39)	D594H	possibly damaging	Het
Nalcn	T	C	14: 123,647,164 (GRCm39)	M570V	probably benign	Het
Ncam2	T	C	16: 81,287,277 (GRCm39)	I397T	probably damaging	Het
Ndufs4	C	T	13: 114,453,514 (GRCm39)	V75I	probably damaging	Het
Nek4	T	A	14: 30,701,925 (GRCm39)		probably null	Het
Nfatc1	G	T	18: 80,679,060 (GRCm39)	A762D	possibly damaging	Het
Nhsl3	C	T	4: 129,117,917 (GRCm39)	R249H	possibly damaging	Het
Npc1	A	G	18: 12,324,866 (GRCm39)	I1209T	probably damaging	Het
Or10k2	T	C	8: 84,268,250 (GRCm39)	I159T	probably benign	Het
Or4c11	A	T	2: 88,695,213 (GRCm39)	N88I	probably benign	Het
Pak5	T	C	2: 135,942,877 (GRCm39)	D421G	probably damaging	Het
Pias1	A	G	9: 62,820,112 (GRCm39)	V285A	possibly damaging	Het
Pigg	T	A	5: 108,466,755 (GRCm39)	I212N	probably damaging	Het
Plcd3	A	T	11: 102,961,974 (GRCm39)	C711S	probably benign	Het
Plscr5	G	A	9: 92,080,550 (GRCm39)	R12K	probably benign	Het
Ppp1r26	T	C	2: 28,342,370 (GRCm39)	F667L	probably benign	Het
Prkx	A	G	X: 76,814,920 (GRCm39)	F247L	probably benign	Het
Qpct	G	A	17: 79,378,115 (GRCm39)	R95Q	probably benign	Het
Ralgapb	G	T	2: 158,279,392 (GRCm39)	M159I	probably benign	Het
Rnf145	T	C	11: 44,445,997 (GRCm39)	L277P	probably damaging	Het
Scn9a	A	G	2: 66,366,669 (GRCm39)	S705P	probably damaging	Het
Slc4a8	A	G	15: 100,704,254 (GRCm39)	T750A	probably damaging	Het
Slc66a1	A	T	4: 139,029,166 (GRCm39)	V106D	probably damaging	Het
Syne2	A	G	12: 76,141,230 (GRCm39)	E6114G	probably damaging	Het
Tat	T	C	8: 110,724,236 (GRCm39)	M375T	probably damaging	Het
Tex10	C	T	4: 48,436,522 (GRCm39)		probably benign	Het
Tmprss11e	T	C	5: 86,861,587 (GRCm39)	K320E	probably benign	Het
Tnr	T	C	1: 159,685,840 (GRCm39)	I357T	probably damaging	Het
Vmn1r229	A	T	17: 21,035,638 (GRCm39)	R294S	possibly damaging	Het
Vmn2r116	G	A	17: 23,620,443 (GRCm39)	D726N	probably damaging	Het
Vpreb1b	T	A	16: 17,798,934 (GRCm39)	L140*	probably null	Het
Wfs1	G	A	5: 37,125,286 (GRCm39)	P535L	probably damaging	Het
Xdh	A	G	17: 74,229,532 (GRCm39)	L307P	probably damaging	Het
Zfp160	A	G	17: 21,241,090 (GRCm39)	S53G	probably benign	Het
Zfp319	A	G	8: 96,054,659 (GRCm39)	C515R	probably damaging	Het
Zfp747	A	G	7: 126,974,929 (GRCm39)	F24L	possibly damaging	Het
Zzef1	A	T	11: 72,739,460 (GRCm39)		probably benign	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
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
R5153:Plxna4	UTSW	6	32,201,094 (GRCm39)	splice site	probably null
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'- ATTGCGCTCACAGCCAATG -3'
(R):5'- ACGAGAGTGGCTCAGTCTTTG -3'

Sequencing Primer
(F):5'- GGCACCTCTACGTAGGAGTTAAAG -3'
(R):5'- GGTGATTGTTTCCTACAGCAAC -3'

Posted On

2014-10-01