Mutagenetix > Incidental Mutation

Incidental Mutation 'R8822:Plxna4'

673109

Institutional Source

Beutler Lab

Gene Symbol

Plxna4

Ensembl Gene

ENSMUSG00000029765

Gene Name

plexin A4

Synonyms

Plxa4

MMRRC Submission

068655-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.600) question?

Stock #

R8822 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32121478-32565127 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32127431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1892 (D1892G)

Ref Sequence

ENSEMBL: ENSMUSP00000110748 (fasta)

Gene Model

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

AlphaFold

Q80UG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115096
AA Change: D1892G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110748
Gene: ENSMUSG00000029765
AA Change: D1892G

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: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb1	T	C	19: 56,711,849 (GRCm39)	V349A	probably damaging	Het
Atp2a2	A	G	5: 122,629,772 (GRCm39)	V99A	possibly damaging	Het
Bank1	T	A	3: 135,809,640 (GRCm39)	D418V	possibly damaging	Het
Cacna1d	A	G	14: 29,900,692 (GRCm39)	V331A	probably benign	Het
Cd28	A	T	1: 60,808,820 (GRCm39)	N178I	possibly damaging	Het
Cdcp3	A	T	7: 130,843,706 (GRCm39)		probably null	Het
Ceacam12	T	C	7: 17,803,378 (GRCm39)		probably benign	Het
Cfap54	G	A	10: 92,875,003 (GRCm39)	A494V	probably benign	Het
Chpt1	A	G	10: 88,324,268 (GRCm39)	V180A	probably damaging	Het
Cplane1	T	C	15: 8,201,262 (GRCm39)	I13T	probably damaging	Het
Cplx3	A	G	9: 57,514,471 (GRCm39)	V493A	probably benign	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Fam151a	A	T	4: 106,602,842 (GRCm39)	M254L	probably benign	Het
Fyco1	A	T	9: 123,648,184 (GRCm39)	I1250N	probably damaging	Het
Gm6685	T	G	11: 28,289,768 (GRCm39)	Q16P	probably benign	Het
Gpr26	A	G	7: 131,568,997 (GRCm39)	Y114C	probably damaging	Het
Helb	A	T	10: 119,941,389 (GRCm39)	V433D	probably benign	Het
Hps3	A	G	3: 20,057,391 (GRCm39)	W930R	probably benign	Het
Igdcc4	C	T	9: 65,031,298 (GRCm39)	T412I	possibly damaging	Het
Klhl35	T	C	7: 99,122,055 (GRCm39)	V485A	probably benign	Het
Lmo7	A	G	14: 102,121,610 (GRCm39)	D225G	probably damaging	Het
Myo15a	C	T	11: 60,367,740 (GRCm39)	R167C	probably damaging	Het
Obp2a	A	T	2: 25,590,188 (GRCm39)	D29V	probably damaging	Het
Or10d3	C	A	9: 39,461,812 (GRCm39)	M118I	probably benign	Het
Or13a22	A	G	7: 140,072,926 (GRCm39)	Y125C	possibly damaging	Het
Or52b2	A	G	7: 104,986,809 (GRCm39)	V38A	probably benign	Het
Or5d47	A	G	2: 87,804,785 (GRCm39)	S75P	possibly damaging	Het
Or8g4	A	G	9: 39,661,700 (GRCm39)	Y6C	probably benign	Het
Pde6b	A	G	5: 108,551,328 (GRCm39)	E204G	probably benign	Het
Pkd1	T	C	17: 24,784,615 (GRCm39)	V387A	probably benign	Het
Pkd1l1	A	T	11: 8,806,312 (GRCm39)	I2054K		Het
Pkp1	T	A	1: 135,807,661 (GRCm39)	M536L	probably benign	Het
Platr25	T	C	13: 62,848,658 (GRCm39)	E68G	probably benign	Het
Pramel30	A	G	4: 144,057,092 (GRCm39)	K92E	probably benign	Het
Prr12	A	G	7: 44,699,763 (GRCm39)	L76P	unknown	Het
Ptprz1	T	A	6: 23,002,588 (GRCm39)	N1559K	probably damaging	Het
Rbl2	A	T	8: 91,833,346 (GRCm39)	N750I	possibly damaging	Het
Rhpn2	A	T	7: 35,090,228 (GRCm39)	M617L	probably benign	Het
Rprd2	A	G	3: 95,691,613 (GRCm39)	S221P	probably damaging	Het
S100a4	T	C	3: 90,512,358 (GRCm39)	S14P	probably benign	Het
Samd11	A	T	4: 156,336,764 (GRCm39)	L25Q	probably damaging	Het
Sash1	G	A	10: 8,761,615 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,370,979 (GRCm39)	S534P	probably damaging	Het
Sec31b	C	A	19: 44,507,702 (GRCm39)	V781F	probably benign	Het
Setd1a	C	T	7: 127,385,332 (GRCm39)	L680F	possibly damaging	Het
Slc10a2	T	G	8: 5,139,149 (GRCm39)	Q265P	probably damaging	Het
Slc27a1	T	A	8: 72,033,308 (GRCm39)	D283E	probably damaging	Het
Slc38a4	G	A	15: 96,906,952 (GRCm39)	T262M	probably benign	Het
Slc52a3	T	G	2: 151,846,513 (GRCm39)	V158G	probably benign	Het
Snx16	T	C	3: 10,484,125 (GRCm39)	V64A	probably benign	Het
Stox1	A	T	10: 62,499,900 (GRCm39)	W887R	probably damaging	Het
Tcap	G	A	11: 98,275,264 (GRCm39)	V133M	probably benign	Het
Ticam1	A	G	17: 56,578,444 (GRCm39)	L217P	probably damaging	Het
Tnfrsf12a	T	C	17: 23,895,188 (GRCm39)	S87G	probably benign	Het
Tyr	G	A	7: 87,142,330 (GRCm39)	R77C	probably damaging	Het
Uba6	A	G	5: 86,294,932 (GRCm39)		probably benign	Het
Usp24	G	A	4: 106,269,410 (GRCm39)	V2107M	probably benign	Het
Wdr64	T	C	1: 175,544,920 (GRCm39)	S118P	probably damaging	Het
Zbtb21	G	A	16: 97,752,516 (GRCm39)	T589I	probably damaging	Het
Zfp263	G	T	16: 3,562,004 (GRCm39)		probably benign	Het
Zfp318	A	G	17: 46,723,831 (GRCm39)	T1945A	probably benign	Het
Zfp644	G	T	5: 106,783,087 (GRCm39)	R1065S	possibly damaging	Het
Zfp668	A	T	7: 127,466,315 (GRCm39)	S290T	probably damaging	Het
Zfp808	T	A	13: 62,320,869 (GRCm39)	D699E	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
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
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'- TCAGTGGTGTGGTCCAATCC -3'
(R):5'- TGCCCTGACAATATCCATACTATC -3'

Sequencing Primer
(F):5'- TGTGGTCCAATCCCGCTG -3'
(R):5'- TCTTTATGTACCCTAGAATCACAGG -3'

Posted On

2021-04-30