Mutagenetix > Incidental Mutation

Incidental Mutation 'R5542:Plxna4'

501167

Institutional Source

Beutler Lab

Gene Symbol

Plxna4

Ensembl Gene

ENSMUSG00000029765

Gene Name

plexin A4

Synonyms

Plxa4

MMRRC Submission

043100-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.600) question?

Stock #

R5542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32121478-32565127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32183165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 913 (I913F)

Ref Sequence

ENSEMBL: ENSMUSP00000110748 (fasta)

Gene Model

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

AlphaFold

Q80UG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000115096
AA Change: I913F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110748
Gene: ENSMUSG00000029765
AA Change: I913F

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,932,484 (GRCm39)	T333I	probably damaging	Het
Acacb	C	T	5: 114,333,798 (GRCm39)	R574C	probably damaging	Het
Actr10	T	C	12: 71,001,430 (GRCm39)		probably benign	Het
Ankdd1a	T	A	9: 65,411,472 (GRCm39)		probably null	Het
Anks4b	C	T	7: 119,781,646 (GRCm39)	Q226*	probably null	Het
AW146154	C	A	7: 41,130,801 (GRCm39)	G105V	probably benign	Het
Cdh4	T	A	2: 179,502,019 (GRCm39)	N326K	probably damaging	Het
Cnbd1	T	C	4: 18,860,517 (GRCm39)	T410A	possibly damaging	Het
Cndp2	A	T	18: 84,690,201 (GRCm39)	M247K	probably damaging	Het
Crx	G	A	7: 15,602,262 (GRCm39)	R139C	probably damaging	Het
Ctrc	A	G	4: 141,571,037 (GRCm39)	Y68H	probably damaging	Het
Ddx4	T	C	13: 112,757,779 (GRCm39)	D326G	probably damaging	Het
Edem1	C	T	6: 108,831,290 (GRCm39)	R584C	possibly damaging	Het
Emcn	A	G	3: 137,085,638 (GRCm39)	T79A	probably benign	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Fbrsl1	C	T	5: 110,526,307 (GRCm39)	G437R	probably damaging	Het
Fbxo7	A	C	10: 85,869,149 (GRCm39)	Q201P	probably benign	Het
Fbxo9	T	C	9: 78,008,938 (GRCm39)	M12V	possibly damaging	Het
Fcgbpl1	A	T	7: 27,854,914 (GRCm39)	I1847F	probably damaging	Het
Flii	A	G	11: 60,609,688 (GRCm39)	S640P	probably benign	Het
Fsip2	A	T	2: 82,812,207 (GRCm39)	N2842I	possibly damaging	Het
Fst	G	T	13: 114,592,241 (GRCm39)	Q159K	probably damaging	Het
Fuom	A	T	7: 139,680,025 (GRCm39)	*109R	probably null	Het
Hhipl2	A	G	1: 183,214,055 (GRCm39)	D377G	probably damaging	Het
Hspa14	A	G	2: 3,503,560 (GRCm39)	V116A	possibly damaging	Het
Ighm	A	G	12: 113,382,601 (GRCm39)		probably benign	Het
Ighv1-85	T	A	12: 115,963,847 (GRCm39)	Y51F	probably benign	Het
Ighv2-3	A	T	12: 113,574,833 (GRCm39)	D107E	probably benign	Het
Ighv2-6-8	T	A	12: 113,760,187 (GRCm39)	M1L	probably benign	Het
Ipo5	T	C	14: 121,163,683 (GRCm39)	V247A	probably benign	Het
Itga9	T	C	9: 118,672,729 (GRCm39)	F154L	possibly damaging	Het
Itprid1	C	A	6: 55,955,380 (GRCm39)	P996Q	probably damaging	Het
Knl1	T	A	2: 118,898,829 (GRCm39)	C177S	possibly damaging	Het
Lrrc17	G	A	5: 21,780,156 (GRCm39)	G377S	probably damaging	Het
Marveld3	A	T	8: 110,675,249 (GRCm39)	I189K	probably benign	Het
Msantd2	G	A	9: 37,428,555 (GRCm39)	G185R	probably damaging	Het
Mtcl1	G	A	17: 66,691,354 (GRCm39)		probably benign	Het
Muc21	T	C	17: 35,933,395 (GRCm39)		probably benign	Het
Mycbpap	A	T	11: 94,398,572 (GRCm39)		probably null	Het
Nbeal1	A	G	1: 60,316,353 (GRCm39)	D1852G	probably benign	Het
Ndc80	A	T	17: 71,807,276 (GRCm39)	V560D	probably benign	Het
Nscme3l	A	T	19: 5,553,463 (GRCm39)	V106D	probably damaging	Het
Or1e25	T	A	11: 73,494,030 (GRCm39)	V208E	possibly damaging	Het
Or2t48	A	C	11: 58,420,710 (GRCm39)	V34G	probably benign	Het
Or56a3	A	T	7: 104,735,565 (GRCm39)	D214V	probably damaging	Het
Or6a2	A	T	7: 106,600,286 (GRCm39)	S260R	probably damaging	Het
Or9i1b	T	C	19: 13,896,411 (GRCm39)	V9A	probably benign	Het
Pcdhga4	A	T	18: 37,819,651 (GRCm39)	Y400F	probably damaging	Het
Pkd2	A	G	5: 104,634,515 (GRCm39)		silent	Het
Psmc1	T	C	12: 100,086,399 (GRCm39)		probably null	Het
Robo2	G	A	16: 73,695,853 (GRCm39)	T1430I	probably benign	Het
Safb2	G	A	17: 56,882,647 (GRCm39)	R329C	probably damaging	Het
Septin14	T	C	5: 129,774,926 (GRCm39)	H83R	probably damaging	Het
Slc16a10	A	G	10: 39,952,784 (GRCm39)	F237L	probably benign	Het
Slc37a1	A	T	17: 31,559,236 (GRCm39)	T439S	probably damaging	Het
Slc6a6	T	C	6: 91,712,170 (GRCm39)	F233S	probably damaging	Het
Smyd3	A	T	1: 179,238,024 (GRCm39)	D114E	probably benign	Het
Sned1	T	C	1: 93,199,324 (GRCm39)	I468T	probably benign	Het
Speer4a1	T	A	5: 26,241,736 (GRCm39)	N130I	probably damaging	Het
Tdrd7	T	C	4: 46,029,757 (GRCm39)	V1030A	probably benign	Het
Trip12	A	T	1: 84,727,065 (GRCm39)	D1135E	probably damaging	Het
Tsga10	T	A	1: 37,800,598 (GRCm39)	D542V	probably damaging	Het
Ubqlnl	G	A	7: 103,798,904 (GRCm39)	Q198*	probably null	Het
Unc93a2	A	T	17: 7,637,187 (GRCm39)	C334S	probably benign	Het
Usp46	A	T	5: 74,189,902 (GRCm39)	M43K	probably benign	Het
Vmn1r175	A	T	7: 23,508,531 (GRCm39)	I32N	possibly damaging	Het
Vmn1r29	C	T	6: 58,285,108 (GRCm39)	T276I	probably benign	Het
Vmn1r81	A	T	7: 11,994,034 (GRCm39)	D191E	probably damaging	Het
Zbtb5	C	A	4: 44,995,052 (GRCm39)	V111F	probably damaging	Het
Zfp12	C	T	5: 143,230,240 (GRCm39)	P189L	possibly damaging	Het
Zfp729b	A	G	13: 67,739,140 (GRCm39)	F1042L	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
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
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'- ACCATTTCTGTGGCCTGCAC -3'
(R):5'- ATATGCAGAGCCTAGATGGAATC -3'

Sequencing Primer
(F):5'- TGCACCCAGAAAGGCCTTTG -3'
(R):5'- ACTGGTATTTAGAACAGTGTGTATGC -3'

Posted On

2017-12-01