Mutagenetix > Incidental Mutation

Incidental Mutation 'R0548:Plxna4'

44966

Institutional Source

Beutler Lab

Gene Symbol

Plxna4

Ensembl Gene

ENSMUSG00000029765

Gene Name

plexin A4

Synonyms

Plxa4

MMRRC Submission

038740-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.600) question?

Stock #

R0548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32121478-32565127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32134950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1751 (I1751N)

Ref Sequence

ENSEMBL: ENSMUSP00000110748 (fasta)

Gene Model

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

AlphaFold

Q80UG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000115096
AA Change: I1751N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110748
Gene: ENSMUSG00000029765
AA Change: I1751N

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

Meta Mutation Damage Score

0.8541

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (62/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	G	8: 41,279,504 (GRCm39)	C632G	probably damaging	Het
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Agfg1	A	G	1: 82,864,152 (GRCm39)	T447A	probably damaging	Het
Ankrd37	C	T	8: 46,451,433 (GRCm39)		probably null	Het
Apob	A	T	12: 8,056,282 (GRCm39)	D1555V	probably damaging	Het
Asxl3	T	A	18: 22,654,849 (GRCm39)		probably benign	Het
Brca2	C	A	5: 150,468,400 (GRCm39)	D2242E	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Cdk5rap2	A	T	4: 70,267,379 (GRCm39)		probably null	Het
Cox10	A	T	11: 63,867,178 (GRCm39)	Y273N	probably damaging	Het
Dcbld2	A	T	16: 58,275,508 (GRCm39)	D408V	probably damaging	Het
Enam	A	T	5: 88,650,964 (GRCm39)	E824D	probably damaging	Het
Epm2aip1	T	C	9: 111,102,409 (GRCm39)	Y461H	probably damaging	Het
Fam72a	T	A	1: 131,461,599 (GRCm39)	S95T	probably damaging	Het
Fiz1	A	T	7: 5,012,167 (GRCm39)	V117D	possibly damaging	Het
Gm10355	C	T	3: 101,214,376 (GRCm39)		noncoding transcript	Het
Gm11595	A	T	11: 99,662,967 (GRCm39)	C238S	unknown	Het
Gm7589	T	G	9: 59,053,439 (GRCm39)		noncoding transcript	Het
H6pd	A	T	4: 150,066,073 (GRCm39)	V771E	probably damaging	Het
Htt	T	C	5: 35,028,090 (GRCm39)	L1782P	probably damaging	Het
Il33	T	C	19: 29,932,047 (GRCm39)	S147P	probably benign	Het
Lct	T	C	1: 128,212,932 (GRCm39)	Y1907C	probably damaging	Het
Lrp2	G	A	2: 69,367,982 (GRCm39)		probably benign	Het
Maco1	T	C	4: 134,533,971 (GRCm39)	D550G	probably damaging	Het
Map1b	T	C	13: 99,568,191 (GRCm39)	K1510R	unknown	Het
Marco	T	C	1: 120,419,767 (GRCm39)	T187A	probably benign	Het
Mki67	A	T	7: 135,298,637 (GRCm39)	N2132K	possibly damaging	Het
Mki67	T	A	7: 135,296,985 (GRCm39)	K2683M	probably damaging	Het
Mmp15	T	C	8: 96,098,979 (GRCm39)	V602A	probably damaging	Het
Mphosph10	T	A	7: 64,028,548 (GRCm39)	M536L	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
N4bp2	G	T	5: 65,965,496 (GRCm39)	V1182L	probably benign	Het
Nlrc5	C	A	8: 95,248,411 (GRCm39)	F1715L	probably null	Het
Nsd2	T	A	5: 34,050,882 (GRCm39)	V1253E	probably damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or2a52	T	A	6: 43,144,121 (GRCm39)	I43K	probably benign	Het
Or4c120	C	A	2: 89,000,992 (GRCm39)	C188F	probably damaging	Het
Or8g18	A	T	9: 39,149,667 (GRCm39)	S18T	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,125,582 (GRCm39)	N4K	possibly damaging	Het
Postn	C	A	3: 54,274,997 (GRCm39)	S122*	probably null	Het
Ppp4r4	A	T	12: 103,579,074 (GRCm39)	R762*	probably null	Het
Rrm1	G	T	7: 102,116,274 (GRCm39)		probably null	Het
Rrp15	A	G	1: 186,468,431 (GRCm39)	V195A	probably benign	Het
Rtl1	T	A	12: 109,558,089 (GRCm39)	D1250V	probably damaging	Het
Rxrg	T	C	1: 167,458,788 (GRCm39)		probably benign	Het
Scn10a	T	C	9: 119,494,994 (GRCm39)	K416E	probably benign	Het
Serping1	T	C	2: 84,600,425 (GRCm39)		probably benign	Het
Slc12a6	T	C	2: 112,166,269 (GRCm39)		probably null	Het
Smo	A	T	6: 29,759,585 (GRCm39)	Q639L	possibly damaging	Het
Synrg	T	C	11: 83,873,014 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,649,971 (GRCm39)	D470G	probably damaging	Het
Tln1	T	C	4: 43,542,709 (GRCm39)	N1399S	possibly damaging	Het
Tmem131	A	G	1: 36,877,119 (GRCm39)	V240A	probably damaging	Het
Tmem232	G	A	17: 65,689,615 (GRCm39)	T500I	probably benign	Het
Toporsl	G	A	4: 52,612,140 (GRCm39)	V678M	possibly damaging	Het
Vmn1r7	A	T	6: 57,002,066 (GRCm39)	F65I	probably damaging	Het
Wdfy4	C	T	14: 32,764,578 (GRCm39)	M2257I	probably benign	Het
Wdr20rt	T	A	12: 65,274,089 (GRCm39)	D344E	probably benign	Het
Xirp2	C	T	2: 67,344,758 (GRCm39)	A2333V	probably benign	Het
Zfyve16	T	C	13: 92,631,452 (GRCm39)	K1381R	probably benign	Het
Zscan18	G	T	7: 12,508,103 (GRCm39)	P466T	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
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
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'- TCCAGACAGACACCCTCAGGTTTC -3'
(R):5'- TCAGGTTTCCCCAGTGGTACATCTC -3'

Sequencing Primer
(F):5'- CATGGGCCATACTCACCTC -3'
(R):5'- CCAGTGGTACATCTCTAGGTGAAC -3'

Posted On

2013-06-11