Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02312:Plxna4'

287836

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plxna4

Ensembl Gene

ENSMUSG00000029765

Gene Name

plexin A4

Synonyms

Plxa4

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.546) question?

Stock #

IGL02312

Quality Score

Status

Chromosome

Chromosomal Location

32144268-32588192 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32165117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1602 (T1602A)

Ref Sequence

ENSEMBL: ENSMUSP00000110748 (fasta)

Gene Model

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

AlphaFold

Q80UG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115096
AA Change: T1602A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110748
Gene: ENSMUSG00000029765
AA Change: T1602A

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 58,927,297 (GRCm38)	V454E	probably damaging	Het
Atp7b	G	T	8: 21,994,770 (GRCm38)	Q1424K	probably damaging	Het
Bicra	T	C	7: 15,993,141 (GRCm38)	D30G	possibly damaging	Het
Cdhr2	A	G	13: 54,717,888 (GRCm38)	D233G	probably null	Het
Clint1	C	T	11: 45,894,056 (GRCm38)	T294M	probably damaging	Het
Cntnap5c	C	T	17: 58,138,699 (GRCm38)	T578I	probably benign	Het
Col12a1	G	T	9: 79,681,515 (GRCm38)	T1106N	probably damaging	Het
Csta3	A	G	16: 36,210,477 (GRCm38)		probably benign	Het
Dnah10	A	G	5: 124,819,366 (GRCm38)	Y3598C	probably damaging	Het
Dnaja3	A	G	16: 4,694,436 (GRCm38)	T235A	probably benign	Het
Eif2s1	T	C	12: 78,880,016 (GRCm38)	I180T	probably damaging	Het
Ergic1	C	A	17: 26,629,627 (GRCm38)	P108Q	probably damaging	Het
Fat2	T	A	11: 55,270,259 (GRCm38)	D3215V	probably damaging	Het
Galnt17	A	T	5: 131,306,533 (GRCm38)	I23N	probably benign	Het
Gm8909	T	C	17: 36,165,407 (GRCm38)	I350V	probably benign	Het
Gpr20	C	T	15: 73,696,426 (GRCm38)	R38Q	probably benign	Het
Grin2b	T	C	6: 135,739,090 (GRCm38)	D743G	probably damaging	Het
Hmbs	A	G	9: 44,341,213 (GRCm38)		probably null	Het
Hunk	T	C	16: 90,475,941 (GRCm38)	Y302H	probably damaging	Het
Mybph	A	T	1: 134,197,450 (GRCm38)	I239F	probably damaging	Het
Ncoa3	G	A	2: 166,057,200 (GRCm38)	A821T	probably benign	Het
Nf1	A	G	11: 79,444,648 (GRCm38)	I979V	possibly damaging	Het
Or5w14	T	C	2: 87,711,009 (GRCm38)	E299G	probably benign	Het
Or7h8	A	T	9: 20,213,081 (GRCm38)	H244L	probably damaging	Het
Pdilt	G	A	7: 119,519,667 (GRCm38)	T53M	probably benign	Het
Pdlim1	T	C	19: 40,223,061 (GRCm38)	T263A	probably benign	Het
Pik3cg	A	T	12: 32,194,821 (GRCm38)	M878K	possibly damaging	Het
Plod1	T	C	4: 147,926,157 (GRCm38)	K279R	probably benign	Het
Rb1cc1	T	A	1: 6,265,623 (GRCm38)		probably null	Het
Rnls	G	A	19: 33,168,383 (GRCm38)	T112I	probably benign	Het
Ropn1	G	A	16: 34,677,277 (GRCm38)	V180I	probably benign	Het
Rptor	T	C	11: 119,846,915 (GRCm38)	Y605H	possibly damaging	Het
Sidt2	T	C	9: 45,947,001 (GRCm38)	Y80C	probably benign	Het
Slit1	A	T	19: 41,601,680 (GRCm38)	V1389E	possibly damaging	Het
Spz1	G	A	13: 92,575,885 (GRCm38)	P28S	probably benign	Het
Sult1c1	T	A	17: 53,962,430 (GRCm38)	M257L	probably benign	Het
Tent2	C	T	13: 93,175,533 (GRCm38)	V220I	probably benign	Het
Tm2d3	T	C	7: 65,699,169 (GRCm38)		probably null	Het
Uqcr10	T	C	11: 4,704,153 (GRCm38)		probably null	Het

Other mutations in Plxna4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Plxna4	APN	6	32,162,091 (GRCm38)	missense	probably damaging	1.00
IGL01395:Plxna4	APN	6	32,239,433 (GRCm38)	missense	probably damaging	0.99
IGL01506:Plxna4	APN	6	32,516,535 (GRCm38)	missense	probably damaging	1.00
IGL01606:Plxna4	APN	6	32,158,001 (GRCm38)	missense	probably damaging	1.00
IGL01753:Plxna4	APN	6	32,310,478 (GRCm38)	missense	probably benign	0.06
IGL01767:Plxna4	APN	6	32,237,678 (GRCm38)	missense	possibly damaging	0.51
IGL01968:Plxna4	APN	6	32,215,204 (GRCm38)	missense	possibly damaging	0.81
IGL02109:Plxna4	APN	6	32,215,641 (GRCm38)	missense	probably benign
IGL02299:Plxna4	APN	6	32,165,156 (GRCm38)	missense	probably benign	0.01
IGL02306:Plxna4	APN	6	32,206,124 (GRCm38)	missense	probably benign	0.19
IGL02326:Plxna4	APN	6	32,152,905 (GRCm38)	missense	probably damaging	0.99
IGL02658:Plxna4	APN	6	32,185,411 (GRCm38)	missense	probably damaging	1.00
IGL02683:Plxna4	APN	6	32,517,606 (GRCm38)	missense	probably benign	0.03
IGL02701:Plxna4	APN	6	32,517,559 (GRCm38)	missense	probably benign	0.01
IGL02995:Plxna4	APN	6	32,516,595 (GRCm38)	missense	probably damaging	1.00
IGL03030:Plxna4	APN	6	32,202,225 (GRCm38)	missense	probably benign	0.01
IGL03264:Plxna4	APN	6	32,178,402 (GRCm38)	missense	possibly damaging	0.64
IGL03304:Plxna4	APN	6	32,165,051 (GRCm38)	splice site	probably benign
IGL03382:Plxna4	APN	6	32,202,194 (GRCm38)	missense	probably benign	0.23
corona	UTSW	6	32,517,264 (GRCm38)	missense	probably damaging	1.00
Disposed	UTSW	6	32,516,505 (GRCm38)	missense	probably damaging	1.00
inclined	UTSW	6	32,237,723 (GRCm38)	nonsense	probably null
Slope	UTSW	6	32,234,606 (GRCm38)	missense	probably benign	0.00
G4846:Plxna4	UTSW	6	32,192,272 (GRCm38)	missense	probably damaging	1.00
R0133:Plxna4	UTSW	6	32,197,074 (GRCm38)	missense	probably benign	0.00
R0200:Plxna4	UTSW	6	32,197,088 (GRCm38)	missense	probably damaging	0.99
R0308:Plxna4	UTSW	6	32,237,768 (GRCm38)	missense	probably benign	0.01
R0468:Plxna4	UTSW	6	32,215,246 (GRCm38)	missense	probably damaging	1.00
R0505:Plxna4	UTSW	6	32,202,119 (GRCm38)	missense	probably benign
R0542:Plxna4	UTSW	6	32,192,297 (GRCm38)	missense	probably damaging	1.00
R0548:Plxna4	UTSW	6	32,158,015 (GRCm38)	missense	probably damaging	1.00
R0652:Plxna4	UTSW	6	32,185,501 (GRCm38)	missense	probably damaging	1.00
R1144:Plxna4	UTSW	6	32,197,156 (GRCm38)	missense	possibly damaging	0.58
R1190:Plxna4	UTSW	6	32,251,136 (GRCm38)	missense	probably damaging	1.00
R1228:Plxna4	UTSW	6	32,224,152 (GRCm38)	splice site	probably null
R1569:Plxna4	UTSW	6	32,185,475 (GRCm38)	missense	possibly damaging	0.78
R1803:Plxna4	UTSW	6	32,517,444 (GRCm38)	missense	probably damaging	0.98
R1832:Plxna4	UTSW	6	32,197,826 (GRCm38)	missense	probably benign	0.01
R2068:Plxna4	UTSW	6	32,517,616 (GRCm38)	missense	possibly damaging	0.66
R2157:Plxna4	UTSW	6	32,516,974 (GRCm38)	missense	probably benign	0.00
R2842:Plxna4	UTSW	6	32,215,631 (GRCm38)	critical splice donor site	probably null
R2849:Plxna4	UTSW	6	32,185,532 (GRCm38)	missense	probably damaging	1.00
R2892:Plxna4	UTSW	6	32,517,037 (GRCm38)	missense	probably damaging	1.00
R2930:Plxna4	UTSW	6	32,165,780 (GRCm38)	missense	probably damaging	1.00
R3892:Plxna4	UTSW	6	32,215,654 (GRCm38)	missense	probably damaging	1.00
R4065:Plxna4	UTSW	6	32,236,365 (GRCm38)	nonsense	probably null
R4276:Plxna4	UTSW	6	32,200,948 (GRCm38)	missense	probably benign	0.29
R4307:Plxna4	UTSW	6	32,163,509 (GRCm38)	missense	probably damaging	0.99
R4331:Plxna4	UTSW	6	32,150,545 (GRCm38)	nonsense	probably null
R4478:Plxna4	UTSW	6	32,196,133 (GRCm38)	missense	possibly damaging	0.89
R4529:Plxna4	UTSW	6	32,496,896 (GRCm38)	critical splice acceptor site	probably null
R4566:Plxna4	UTSW	6	32,517,403 (GRCm38)	missense	probably benign	0.00
R4568:Plxna4	UTSW	6	32,152,938 (GRCm38)	missense	probably damaging	1.00
R4664:Plxna4	UTSW	6	32,516,950 (GRCm38)	missense	possibly damaging	0.88
R4685:Plxna4	UTSW	6	32,165,844 (GRCm38)	missense	probably damaging	1.00
R4701:Plxna4	UTSW	6	32,516,688 (GRCm38)	missense	probably damaging	0.99
R4939:Plxna4	UTSW	6	32,165,762 (GRCm38)	missense	probably damaging	1.00
R5153:Plxna4	UTSW	6	32,224,159 (GRCm38)	splice site	probably null
R5181:Plxna4	UTSW	6	32,516,997 (GRCm38)	missense	probably damaging	1.00
R5256:Plxna4	UTSW	6	32,251,072 (GRCm38)	missense	probably benign	0.03
R5259:Plxna4	UTSW	6	32,517,021 (GRCm38)	missense	possibly damaging	0.89
R5306:Plxna4	UTSW	6	32,206,121 (GRCm38)	missense	probably damaging	0.99
R5487:Plxna4	UTSW	6	32,517,283 (GRCm38)	missense	probably damaging	1.00
R5510:Plxna4	UTSW	6	32,178,358 (GRCm38)	missense	probably damaging	0.96
R5542:Plxna4	UTSW	6	32,206,230 (GRCm38)	missense	probably damaging	1.00
R5567:Plxna4	UTSW	6	32,157,980 (GRCm38)	missense	possibly damaging	0.61
R5634:Plxna4	UTSW	6	32,237,723 (GRCm38)	nonsense	probably null
R5653:Plxna4	UTSW	6	32,517,616 (GRCm38)	missense	possibly damaging	0.66
R5665:Plxna4	UTSW	6	32,215,722 (GRCm38)	missense	probably damaging	1.00
R5845:Plxna4	UTSW	6	32,237,776 (GRCm38)	missense	probably damaging	1.00
R5909:Plxna4	UTSW	6	32,517,246 (GRCm38)	missense	probably damaging	1.00
R5938:Plxna4	UTSW	6	32,234,606 (GRCm38)	missense	probably benign	0.00
R5973:Plxna4	UTSW	6	32,251,065 (GRCm38)	splice site	probably null
R6433:Plxna4	UTSW	6	32,215,678 (GRCm38)	missense	probably damaging	0.97
R6482:Plxna4	UTSW	6	32,516,737 (GRCm38)	missense	probably benign
R6560:Plxna4	UTSW	6	32,215,678 (GRCm38)	missense	probably damaging	0.97
R6721:Plxna4	UTSW	6	32,200,859 (GRCm38)	missense	probably benign	0.26
R6810:Plxna4	UTSW	6	32,310,522 (GRCm38)	missense	probably benign	0.18
R6985:Plxna4	UTSW	6	32,237,708 (GRCm38)	missense	probably damaging	1.00
R7024:Plxna4	UTSW	6	32,192,269 (GRCm38)	missense	probably damaging	1.00
R7046:Plxna4	UTSW	6	32,516,505 (GRCm38)	missense	probably damaging	1.00
R7137:Plxna4	UTSW	6	32,517,264 (GRCm38)	missense	probably damaging	1.00
R7163:Plxna4	UTSW	6	32,496,756 (GRCm38)	missense	probably benign	0.01
R7199:Plxna4	UTSW	6	32,215,178 (GRCm38)	nonsense	probably null
R7248:Plxna4	UTSW	6	32,162,160 (GRCm38)	missense	probably damaging	0.99
R7260:Plxna4	UTSW	6	32,239,520 (GRCm38)	missense	possibly damaging	0.79
R7361:Plxna4	UTSW	6	32,196,122 (GRCm38)	critical splice donor site	probably null
R7383:Plxna4	UTSW	6	32,152,799 (GRCm38)	critical splice donor site	probably null
R7405:Plxna4	UTSW	6	32,196,319 (GRCm38)	missense	probably benign	0.00
R7516:Plxna4	UTSW	6	32,237,768 (GRCm38)	missense	probably benign	0.00
R7635:Plxna4	UTSW	6	32,496,741 (GRCm38)	missense	probably damaging	0.98
R7754:Plxna4	UTSW	6	32,152,872 (GRCm38)	missense	probably damaging	1.00
R7763:Plxna4	UTSW	6	32,223,980 (GRCm38)	missense	probably damaging	0.99
R7789:Plxna4	UTSW	6	32,206,233 (GRCm38)	critical splice acceptor site	probably null
R8167:Plxna4	UTSW	6	32,517,046 (GRCm38)	missense	probably damaging	0.99
R8191:Plxna4	UTSW	6	32,516,950 (GRCm38)	missense	possibly damaging	0.88
R8225:Plxna4	UTSW	6	32,162,103 (GRCm38)	missense	probably damaging	1.00
R8284:Plxna4	UTSW	6	32,152,854 (GRCm38)	missense	probably benign	0.25
R8305:Plxna4	UTSW	6	32,211,065 (GRCm38)	missense	possibly damaging	0.81
R8438:Plxna4	UTSW	6	32,202,180 (GRCm38)	missense	probably damaging	1.00
R8493:Plxna4	UTSW	6	32,215,712 (GRCm38)	missense	probably benign	0.27
R8714:Plxna4	UTSW	6	32,163,444 (GRCm38)	nonsense	probably null
R8759:Plxna4	UTSW	6	32,192,341 (GRCm38)	missense	probably damaging	1.00
R8822:Plxna4	UTSW	6	32,150,496 (GRCm38)	missense	possibly damaging	0.89
R8844:Plxna4	UTSW	6	32,197,091 (GRCm38)	missense	probably benign	0.11
R8974:Plxna4	UTSW	6	32,239,512 (GRCm38)	missense	possibly damaging	0.79
R9020:Plxna4	UTSW	6	32,234,562 (GRCm38)	missense	possibly damaging	0.90
R9144:Plxna4	UTSW	6	32,185,561 (GRCm38)	missense	possibly damaging	0.77
R9206:Plxna4	UTSW	6	32,517,444 (GRCm38)	missense	probably damaging	0.98
R9208:Plxna4	UTSW	6	32,517,444 (GRCm38)	missense	probably damaging	0.98
R9257:Plxna4	UTSW	6	32,162,083 (GRCm38)	missense	probably damaging	0.99
R9269:Plxna4	UTSW	6	32,178,380 (GRCm38)	missense	probably benign	0.00
R9411:Plxna4	UTSW	6	32,182,747 (GRCm38)	missense	probably damaging	1.00
R9469:Plxna4	UTSW	6	32,517,591 (GRCm38)	missense	probably benign
R9583:Plxna4	UTSW	6	32,215,234 (GRCm38)	missense	possibly damaging	0.78
R9647:Plxna4	UTSW	6	32,251,109 (GRCm38)	missense	probably damaging	1.00
R9695:Plxna4	UTSW	6	32,206,121 (GRCm38)	missense	probably benign	0.02
R9801:Plxna4	UTSW	6	32,163,591 (GRCm38)	critical splice acceptor site	probably null
V1024:Plxna4	UTSW	6	32,234,574 (GRCm38)	missense	probably damaging	1.00
X0027:Plxna4	UTSW	6	32,517,044 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16