Mutagenetix > Incidental Mutation

Incidental Mutation 'R5909:Plxna4'

460840

Institutional Source

Beutler Lab

Gene Symbol

Plxna4

Ensembl Gene

ENSMUSG00000029765

Gene Name

plexin A4

Synonyms

Plxa4

MMRRC Submission

044106-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.600) question?

Stock #

R5909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32121478-32565127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32494181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 145 (L145P)

Ref Sequence

ENSEMBL: ENSMUSP00000110748 (fasta)

Gene Model

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

AlphaFold

Q80UG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000115096
AA Change: L145P

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

SMART Domains

Protein: ENSMUSP00000110748
Gene: ENSMUSG00000029765
AA Change: L145P

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	T	C	9: 30,873,224 (GRCm39)	S810P	probably benign	Het
Adcy7	A	T	8: 89,052,124 (GRCm39)	I931F	probably damaging	Het
Alcam	G	T	16: 52,111,356 (GRCm39)	Q248K	probably benign	Het
Astn1	A	C	1: 158,429,507 (GRCm39)	R750S	probably damaging	Het
Atp1a2	A	T	1: 172,114,797 (GRCm39)	N329K	probably damaging	Het
Bcl6	A	G	16: 23,791,556 (GRCm39)	V266A	probably benign	Het
Bdp1	A	G	13: 100,228,794 (GRCm39)	V278A	probably benign	Het
Ccdc162	T	C	10: 41,437,111 (GRCm39)	E493G	probably damaging	Het
Cpvl	T	C	6: 53,909,413 (GRCm39)	Y241C	probably damaging	Het
Ddx55	T	C	5: 124,704,913 (GRCm39)	M390T	probably benign	Het
Ero1b	A	G	13: 12,594,139 (GRCm39)	E102G	probably benign	Het
Etnk1	A	G	6: 143,143,164 (GRCm39)	D273G	probably benign	Het
Exoc3	A	G	13: 74,347,643 (GRCm39)	V109A	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,091 (GRCm39)	I58N	probably damaging	Het
Fancd2	T	A	6: 113,538,672 (GRCm39)	V589E	probably benign	Het
Fbll1	G	A	11: 35,689,159 (GRCm39)	R35C	unknown	Het
Fnbp1	A	G	2: 30,938,211 (GRCm39)		probably null	Het
Glce	G	T	9: 61,967,426 (GRCm39)	A575D	probably damaging	Het
Ift20	T	A	11: 78,430,867 (GRCm39)	M70K	possibly damaging	Het
Impg2	T	C	16: 56,078,499 (GRCm39)	V487A	probably damaging	Het
Isx	A	G	8: 75,619,426 (GRCm39)	D206G	probably benign	Het
Jak3	A	G	8: 72,136,875 (GRCm39)	I684V	possibly damaging	Het
Kdm5d	G	A	Y: 941,306 (GRCm39)	S1169N	probably benign	Het
Krt35	A	T	11: 99,986,639 (GRCm39)	L125Q	probably damaging	Het
Lama4	G	A	10: 38,948,855 (GRCm39)	A873T	probably benign	Het
Lrch4	T	C	5: 137,632,127 (GRCm39)	S74P	possibly damaging	Het
Maneal	A	T	4: 124,750,966 (GRCm39)	Y263*	probably null	Het
Mcat	C	T	15: 83,432,116 (GRCm39)	A251T	probably benign	Het
Mup3	T	G	4: 62,004,244 (GRCm39)	T90P	probably benign	Het
Mybpc2	G	A	7: 44,156,515 (GRCm39)	A812V	probably damaging	Het
Naa15	T	C	3: 51,367,485 (GRCm39)	F503L	probably damaging	Het
Nudt8	T	C	19: 4,050,727 (GRCm39)	L25S	possibly damaging	Het
Oas1e	A	T	5: 120,926,972 (GRCm39)	V245D	probably damaging	Het
Ofcc1	A	G	13: 40,417,054 (GRCm39)	M109T	possibly damaging	Het
Or4c58	A	G	2: 89,674,735 (GRCm39)	V194A	possibly damaging	Het
Or4p18	A	T	2: 88,232,535 (GRCm39)	F248I	probably damaging	Het
Phkb	G	T	8: 86,748,076 (GRCm39)		probably null	Het
Pidd1	A	C	7: 141,021,183 (GRCm39)	L365R	probably damaging	Het
Pira12	G	A	7: 3,900,621 (GRCm39)	T43I	probably damaging	Het
Pkd1l2	G	A	8: 117,750,795 (GRCm39)	R1739C	probably benign	Het
Pkdrej	A	T	15: 85,702,497 (GRCm39)	D1146E	possibly damaging	Het
Pkhd1l1	G	T	15: 44,390,159 (GRCm39)	W1425L	probably damaging	Het
Plxnd1	G	T	6: 115,945,649 (GRCm39)	D941E	probably benign	Het
Prdm13	G	T	4: 21,683,894 (GRCm39)	Q126K	unknown	Het
Rbm25	T	A	12: 83,728,362 (GRCm39)	V837E	probably damaging	Het
Rcc2	T	A	4: 140,444,379 (GRCm39)	Y357N	probably damaging	Het
Siglec1	A	T	2: 130,919,884 (GRCm39)	N882K	probably damaging	Het
Sox13	A	G	1: 133,311,627 (GRCm39)	I535T	probably benign	Het
Srrm2	T	C	17: 24,040,291 (GRCm39)	S2408P	probably benign	Het
Stat3	G	A	11: 100,794,556 (GRCm39)	T251I	probably benign	Het
Sulf1	A	T	1: 12,929,039 (GRCm39)	D102V	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmem145	G	T	7: 25,007,618 (GRCm39)	L208F	possibly damaging	Het
Trim17	A	T	11: 58,859,506 (GRCm39)	E240V	probably damaging	Het
Trim43b	A	T	9: 88,967,451 (GRCm39)	I395K	possibly damaging	Het
Trmt61a	C	A	12: 111,647,292 (GRCm39)	H130N	probably damaging	Het
Unc5b	A	C	10: 60,608,138 (GRCm39)	L654R	probably damaging	Het
Vmn1r66	A	T	7: 10,008,269 (GRCm39)	S255T	probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zbtb10	T	C	3: 9,345,109 (GRCm39)	F677S	probably benign	Het
Zfp493	T	A	13: 67,934,717 (GRCm39)	C223*	probably null	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
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'- GGCCTCAGAGTTCTTAGTCAGC -3'
(R):5'- TGACCTCAAAGTCTTGGTGAC -3'

Sequencing Primer
(F):5'- AGAGTTCTTAGTCAGCTTCCTG -3'
(R):5'- CTTGGTGACTCATCAGACAGG -3'

Posted On

2017-02-28