Mutagenetix > Incidental Mutation

Incidental Mutation 'R7248:Plxna4'

563671

Institutional Source

Beutler Lab

Gene Symbol

Plxna4

Ensembl Gene

ENSMUSG00000029765

Gene Name

plexin A4

Synonyms

Plxa4

MMRRC Submission

045311-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.600) question?

Stock #

R7248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32121478-32565127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32139095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1691 (V1691E)

Ref Sequence

ENSEMBL: ENSMUSP00000110748 (fasta)

Gene Model

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

AlphaFold

Q80UG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000115096
AA Change: V1691E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110748
Gene: ENSMUSG00000029765
AA Change: V1691E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,207,959 (GRCm39)		probably null	Het
Aldh16a1	A	G	7: 44,795,018 (GRCm39)	Y484H	probably damaging	Het
Arhgap26	T	C	18: 39,439,907 (GRCm39)		probably null	Het
Atxn7l1	A	G	12: 33,417,194 (GRCm39)	T452A	probably benign	Het
Baz1a	C	T	12: 54,947,293 (GRCm39)	E1119K	probably damaging	Het
Btaf1	A	T	19: 36,922,714 (GRCm39)	E39D	possibly damaging	Het
Bud13	G	T	9: 46,194,413 (GRCm39)	E29*	probably null	Het
Ccdc150	C	T	1: 54,344,057 (GRCm39)	T530I	probably benign	Het
Chd6	G	A	2: 160,803,199 (GRCm39)	Q2160*	probably null	Het
Cluap1	T	A	16: 3,737,364 (GRCm39)	I172N	possibly damaging	Het
Cnot2	T	C	10: 116,334,278 (GRCm39)	N329S	probably benign	Het
Cog4	A	T	8: 111,608,834 (GRCm39)	T175S	unknown	Het
Coq7	C	A	7: 118,128,897 (GRCm39)	R46L	probably benign	Het
D630045J12Rik	A	T	6: 38,145,198 (GRCm39)	V1276E	probably damaging	Het
Dcaf15	A	G	8: 84,829,394 (GRCm39)	V116A	possibly damaging	Het
Ddr2	C	T	1: 169,822,198 (GRCm39)	V417I	probably benign	Het
Defa25	G	A	8: 21,575,216 (GRCm39)	C65Y	probably damaging	Het
Dhx38	T	C	8: 110,285,559 (GRCm39)	T425A	probably benign	Het
Diaph1	T	C	18: 38,022,829 (GRCm39)	T782A	probably benign	Het
Dnah7b	T	A	1: 46,181,245 (GRCm39)	M1044K	possibly damaging	Het
Dusp16	G	A	6: 134,695,940 (GRCm39)	T297M	probably benign	Het
Esyt2	A	G	12: 116,305,858 (GRCm39)	N363D	probably damaging	Het
Fasl	C	T	1: 161,615,760 (GRCm39)	C32Y	possibly damaging	Het
Flg	T	C	3: 93,189,041 (GRCm39)	V137A	probably benign	Het
Gm57858	T	A	3: 36,080,086 (GRCm39)	T224S	probably benign	Het
Gpr150	G	A	13: 76,204,126 (GRCm39)	A273V	probably benign	Het
Grk5	A	G	19: 60,879,045 (GRCm39)	T10A	probably benign	Het
Hivep2	A	G	10: 14,006,909 (GRCm39)	K1169R	possibly damaging	Het
Ido2	A	C	8: 25,030,657 (GRCm39)	Y224*	probably null	Het
Ido2	A	G	8: 25,038,839 (GRCm39)	I149T	probably damaging	Het
Iqca1l	C	T	5: 24,749,269 (GRCm39)	S743N	probably benign	Het
Kctd2	A	G	11: 115,312,845 (GRCm39)	T126A	possibly damaging	Het
Khdc4	T	C	3: 88,600,886 (GRCm39)	S228P	probably damaging	Het
Kif1a	T	C	1: 92,969,305 (GRCm39)	D1090G	probably benign	Het
Klrb1a	A	T	6: 128,586,697 (GRCm39)	H222Q	possibly damaging	Het
Kndc1	A	C	7: 139,500,699 (GRCm39)	H688P	probably damaging	Het
Lrriq1	C	A	10: 103,059,611 (GRCm39)	V141F	possibly damaging	Het
Malrd1	A	G	2: 16,106,722 (GRCm39)	I1845V	unknown	Het
Mob3c	G	A	4: 115,688,881 (GRCm39)	R138H	probably benign	Het
Mre11a	T	A	9: 14,723,209 (GRCm39)	D394E	possibly damaging	Het
Myh7b	A	T	2: 155,464,106 (GRCm39)	I536F	probably damaging	Het
Nacad	T	A	11: 6,548,589 (GRCm39)	K1382*	probably null	Het
Ncor1	T	C	11: 62,275,598 (GRCm39)	K128R	possibly damaging	Het
Or10am5	T	C	7: 6,517,520 (GRCm39)	N303D	probably damaging	Het
Ostn	T	A	16: 27,165,719 (GRCm39)		probably null	Het
Pacs1	G	A	19: 5,189,003 (GRCm39)	T793I	probably damaging	Het
Pcdhb2	T	C	18: 37,429,547 (GRCm39)	S507P	probably damaging	Het
Pde2a	A	G	7: 101,152,597 (GRCm39)	K393E	possibly damaging	Het
Pfkl	T	A	10: 77,825,423 (GRCm39)	N656Y	probably damaging	Het
Phf20	T	A	2: 156,135,331 (GRCm39)		probably null	Het
Plekha6	G	T	1: 133,203,586 (GRCm39)	E550*	probably null	Het
Rag1	A	T	2: 101,472,123 (GRCm39)	H1006Q	probably damaging	Het
Rfx4	C	T	10: 84,740,919 (GRCm39)	P679L	probably benign	Het
Ripor2	A	G	13: 24,878,128 (GRCm39)	H301R	probably damaging	Het
Rrp12	A	T	19: 41,871,877 (GRCm39)	I469N	possibly damaging	Het
Serpinb6b	A	G	13: 33,161,559 (GRCm39)	T211A	probably benign	Het
Sf1	A	T	19: 6,426,383 (GRCm39)	H547L	unknown	Het
Slc29a1	T	C	17: 45,903,108 (GRCm39)	D9G	probably damaging	Het
Sptan1	T	A	2: 29,892,311 (GRCm39)	M1075K	probably benign	Het
Syngap1	A	G	17: 27,176,741 (GRCm39)	D474G	probably damaging	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Timeless	A	G	10: 128,087,870 (GRCm39)	T1148A	probably benign	Het
Tmem116	A	T	5: 121,601,899 (GRCm39)		probably null	Het
Tmem158	A	T	9: 123,089,390 (GRCm39)	I74N	probably damaging	Het
Traf5	T	A	1: 191,743,432 (GRCm39)	D174V	probably benign	Het
Trim65	A	T	11: 116,018,534 (GRCm39)	I247N	probably benign	Het
Tsfm	A	T	10: 126,847,500 (GRCm39)	V197E	probably benign	Het
Utrn	A	G	10: 12,604,562 (GRCm39)	C539R	possibly damaging	Het
Vps13a	A	T	19: 16,655,406 (GRCm39)	F1874Y	probably benign	Het
Wdr6	A	G	9: 108,453,238 (GRCm39)	M215T	possibly damaging	Het
Wdr75	T	A	1: 45,856,560 (GRCm39)	W528R	probably damaging	Het
Zc3h7b	A	G	15: 81,655,988 (GRCm39)	D112G	possibly damaging	Het
Zc3hav1	C	T	6: 38,330,911 (GRCm39)	D83N	probably benign	Het
Zfp369	T	A	13: 65,443,931 (GRCm39)	V358E	probably damaging	Het
Zfp946	T	A	17: 22,672,489 (GRCm39)	C29*	probably null	Het
Zng1	A	G	19: 24,898,505 (GRCm39)	S318P	probably 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
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
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'- GTAGACAGAAGCCAGCTCAC -3'
(R):5'- AGAGTTGATGCACAGTGTCC -3'

Sequencing Primer
(F):5'- AGCTCACCTCTGGAAAGCCTG -3'
(R):5'- ACAGTGTCCCCGCACTC -3'

Posted On

2019-06-26