Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02272:Plxnd1'

287219

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plxnd1

Ensembl Gene

ENSMUSG00000030123

Gene Name

plexin D1

Synonyms

b2b553Clo, 6230425C21Rik, b2b1863Clo

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

115954811-115995005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115993628 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 393 (F393S)

Ref Sequence

ENSEMBL: ENSMUSP00000015511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015511]

AlphaFold

Q3UH93

Predicted Effect

probably damaging
Transcript: ENSMUST00000015511
AA Change: F393S

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

SMART Domains

Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: F393S

Domain	Start	End	E-Value	Type
signal peptide	1	48	N/A	INTRINSIC
Sema	61	531	6.52e-90	SMART
PSI	550	603	6.06e-12	SMART
PSI	703	755	1.06e-2	SMART
Blast:PSI	850	891	9e-20	BLAST
IPT	892	981	4.43e-20	SMART
IPT	982	1068	6.61e-19	SMART
IPT	1070	1149	6.13e-14	SMART
transmembrane domain	1271	1293	N/A	INTRINSIC
Pfam:Plexin_cytopl	1345	1888	5e-238	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display neonatal lethality, thin-walled atria, and vascular abnormalities including abnormal branchial arch artery development, cardiac outflow tract abnormalities, and reduced vascular smooth muscle around some vessels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,450,021 (GRCm38)	C759*	probably null	Het
Adgrg6	T	A	10: 14,468,829 (GRCm38)	M127L	probably damaging	Het
AI314180	A	T	4: 58,811,731 (GRCm38)	N1439K	probably benign	Het
Anxa9	A	G	3: 95,305,894 (GRCm38)	V47A	probably benign	Het
Arhgef12	T	A	9: 43,001,452 (GRCm38)	D483V	probably damaging	Het
Arrdc3	C	A	13: 80,891,650 (GRCm38)		probably benign	Het
Ccdc169	A	G	3: 55,150,748 (GRCm38)	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,960,022 (GRCm38)	V731D	possibly damaging	Het
Cdh3	G	T	8: 106,547,836 (GRCm38)		probably null	Het
Cntnap1	G	A	11: 101,178,316 (GRCm38)	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,757,411 (GRCm38)	V852E	probably damaging	Het
Csmd1	A	T	8: 16,199,893 (GRCm38)	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,993,265 (GRCm38)		probably benign	Het
Dusp6	T	A	10: 99,266,019 (GRCm38)	V289D	probably damaging	Het
Epha6	C	T	16: 59,818,937 (GRCm38)	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,779,704 (GRCm38)	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,269,803 (GRCm38)	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,164,781 (GRCm38)	V152E	probably benign	Het
Hmces	A	G	6: 87,917,855 (GRCm38)		probably null	Het
Hsph1	A	G	5: 149,617,530 (GRCm38)	S852P	probably benign	Het
Kat6b	A	C	14: 21,626,778 (GRCm38)	K394Q	probably damaging	Het
Kdr	G	A	5: 75,961,840 (GRCm38)	T475I	probably benign	Het
Klhl25	A	G	7: 75,866,620 (GRCm38)	T425A	probably benign	Het
Klk1b8	T	A	7: 43,952,793 (GRCm38)	C50S	probably damaging	Het
Kri1	T	C	9: 21,276,168 (GRCm38)	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,305,769 (GRCm38)	S953P	probably benign	Het
Lpin1	A	G	12: 16,547,600 (GRCm38)	V681A	probably damaging	Het
Lpin3	A	G	2: 160,901,661 (GRCm38)	T508A	probably benign	Het
Moxd1	T	A	10: 24,282,700 (GRCm38)	Y417*	probably null	Het
Mthfd1l	T	G	10: 4,041,812 (GRCm38)	I588S	probably damaging	Het
Myo5c	C	A	9: 75,266,160 (GRCm38)	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,884,600 (GRCm38)		probably benign	Het
Nme8	T	C	13: 19,658,826 (GRCm38)	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,567,979 (GRCm38)	N249T	probably damaging	Het
Pex11g	A	G	8: 3,465,898 (GRCm38)	V45A	probably benign	Het
Pkhd1	C	A	1: 20,209,260 (GRCm38)	G2945W	probably damaging	Het
Ppp3cc	A	G	14: 70,236,489 (GRCm38)	V353A	probably damaging	Het
Prss16	T	A	13: 22,003,035 (GRCm38)	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,721,208 (GRCm38)	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,716,566 (GRCm38)	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,598,782 (GRCm38)	L598F	probably damaging	Het
Sardh	T	G	2: 27,224,991 (GRCm38)	D550A	probably benign	Het
Serpinc1	T	G	1: 160,999,992 (GRCm38)	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,121,167 (GRCm38)	D650V	probably benign	Het
Sipa1l2	T	A	8: 125,492,011 (GRCm38)	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,583,568 (GRCm38)	T294A	probably benign	Het
Srrm2	T	C	17: 23,815,782 (GRCm38)		probably benign	Het
Steap2	T	A	5: 5,677,612 (GRCm38)	N241I	probably benign	Het
Tcaf3	T	C	6: 42,596,660 (GRCm38)	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,978,463 (GRCm38)	Q322L	probably damaging	Het
Tnni2	C	A	7: 142,443,429 (GRCm38)	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,735,028 (GRCm38)	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,976,153 (GRCm38)	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071 (GRCm38)	K331N	probably damaging	Het
Usp50	G	A	2: 126,769,944 (GRCm38)	T232I	probably damaging	Het
Vmn2r116	T	A	17: 23,386,004 (GRCm38)	L97Q	probably damaging	Het
Vmn2r116	G	A	17: 23,385,999 (GRCm38)	M95I	probably benign	Het
Vmn2r24	A	T	6: 123,786,884 (GRCm38)	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,750,693 (GRCm38)	R383G	probably benign	Het

Other mutations in Plxnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Plxnd1	APN	6	115,967,972 (GRCm38)	missense	possibly damaging	0.51
IGL01099:Plxnd1	APN	6	115,969,945 (GRCm38)	missense	probably benign
IGL01323:Plxnd1	APN	6	115,966,799 (GRCm38)	missense	possibly damaging	0.81
IGL01382:Plxnd1	APN	6	115,960,527 (GRCm38)	missense	probably damaging	1.00
IGL01786:Plxnd1	APN	6	115,959,935 (GRCm38)	missense	probably damaging	1.00
IGL02244:Plxnd1	APN	6	115,978,257 (GRCm38)	missense	probably benign	0.39
IGL02293:Plxnd1	APN	6	115,963,913 (GRCm38)	missense	probably damaging	1.00
IGL02465:Plxnd1	APN	6	115,955,742 (GRCm38)	makesense	probably null
IGL02873:Plxnd1	APN	6	115,959,976 (GRCm38)	missense	probably damaging	1.00
IGL03209:Plxnd1	APN	6	115,962,357 (GRCm38)	missense	probably damaging	1.00
Hiss	UTSW	6	115,969,929 (GRCm38)	missense	possibly damaging	0.94
murmer	UTSW	6	115,968,793 (GRCm38)	missense	probably benign	0.00
mutter	UTSW	6	115,968,044 (GRCm38)	missense	probably benign	0.27
rattle	UTSW	6	115,959,794 (GRCm38)	missense	probably damaging	0.96
R0238:Plxnd1	UTSW	6	115,968,793 (GRCm38)	missense	probably benign	0.00
R0238:Plxnd1	UTSW	6	115,968,793 (GRCm38)	missense	probably benign	0.00
R0239:Plxnd1	UTSW	6	115,968,793 (GRCm38)	missense	probably benign	0.00
R0239:Plxnd1	UTSW	6	115,968,793 (GRCm38)	missense	probably benign	0.00
R0357:Plxnd1	UTSW	6	115,969,460 (GRCm38)	missense	probably benign	0.00
R0646:Plxnd1	UTSW	6	115,958,699 (GRCm38)	splice site	probably benign
R0648:Plxnd1	UTSW	6	115,994,001 (GRCm38)	missense	possibly damaging	0.86
R0718:Plxnd1	UTSW	6	115,966,638 (GRCm38)	missense	possibly damaging	0.68
R1116:Plxnd1	UTSW	6	115,967,005 (GRCm38)	splice site	probably null
R1292:Plxnd1	UTSW	6	115,962,683 (GRCm38)	unclassified	probably benign
R1715:Plxnd1	UTSW	6	115,968,681 (GRCm38)	missense	probably benign	0.02
R1760:Plxnd1	UTSW	6	115,967,779 (GRCm38)	missense	possibly damaging	0.95
R1799:Plxnd1	UTSW	6	115,994,057 (GRCm38)	missense	probably damaging	1.00
R1817:Plxnd1	UTSW	6	115,980,601 (GRCm38)	missense	possibly damaging	0.83
R1848:Plxnd1	UTSW	6	115,966,546 (GRCm38)	missense	probably damaging	1.00
R1851:Plxnd1	UTSW	6	115,963,914 (GRCm38)	missense	probably damaging	1.00
R1864:Plxnd1	UTSW	6	115,969,441 (GRCm38)	splice site	probably null
R1865:Plxnd1	UTSW	6	115,969,441 (GRCm38)	splice site	probably null
R1875:Plxnd1	UTSW	6	115,978,084 (GRCm38)	splice site	probably null
R1899:Plxnd1	UTSW	6	115,969,363 (GRCm38)	missense	probably benign
R1913:Plxnd1	UTSW	6	115,978,017 (GRCm38)	missense	possibly damaging	0.50
R1970:Plxnd1	UTSW	6	115,962,517 (GRCm38)	missense	probably damaging	1.00
R2007:Plxnd1	UTSW	6	115,967,255 (GRCm38)	missense	probably damaging	1.00
R2134:Plxnd1	UTSW	6	115,957,548 (GRCm38)	missense	probably damaging	1.00
R2202:Plxnd1	UTSW	6	115,962,764 (GRCm38)	missense	probably benign	0.45
R2230:Plxnd1	UTSW	6	115,964,144 (GRCm38)	missense	probably damaging	1.00
R2267:Plxnd1	UTSW	6	115,962,743 (GRCm38)	missense	probably benign	0.29
R2427:Plxnd1	UTSW	6	115,967,748 (GRCm38)	critical splice donor site	probably null
R4108:Plxnd1	UTSW	6	115,959,315 (GRCm38)	missense	probably damaging	1.00
R4233:Plxnd1	UTSW	6	115,965,953 (GRCm38)	missense	probably benign	0.30
R4280:Plxnd1	UTSW	6	115,956,095 (GRCm38)	splice site	probably null
R4280:Plxnd1	UTSW	6	115,956,094 (GRCm38)	splice site	probably benign
R4346:Plxnd1	UTSW	6	115,977,980 (GRCm38)	missense	probably benign	0.16
R4439:Plxnd1	UTSW	6	115,993,976 (GRCm38)	missense	probably damaging	0.99
R4572:Plxnd1	UTSW	6	115,955,756 (GRCm38)	missense	probably damaging	1.00
R4576:Plxnd1	UTSW	6	115,968,044 (GRCm38)	missense	probably benign	0.27
R4599:Plxnd1	UTSW	6	115,994,276 (GRCm38)	missense	probably damaging	1.00
R4614:Plxnd1	UTSW	6	115,972,525 (GRCm38)	missense	possibly damaging	0.83
R4700:Plxnd1	UTSW	6	115,958,615 (GRCm38)	missense	probably damaging	1.00
R4705:Plxnd1	UTSW	6	115,958,620 (GRCm38)	missense	probably damaging	1.00
R4806:Plxnd1	UTSW	6	115,960,855 (GRCm38)	missense	probably damaging	1.00
R4944:Plxnd1	UTSW	6	115,955,765 (GRCm38)	missense	probably damaging	1.00
R4977:Plxnd1	UTSW	6	115,994,376 (GRCm38)	missense	probably damaging	1.00
R5069:Plxnd1	UTSW	6	115,965,901 (GRCm38)	missense	probably damaging	0.98
R5155:Plxnd1	UTSW	6	115,958,988 (GRCm38)	critical splice donor site	probably null
R5460:Plxnd1	UTSW	6	115,957,648 (GRCm38)	missense	probably damaging	1.00
R5729:Plxnd1	UTSW	6	115,965,877 (GRCm38)	missense	probably damaging	1.00
R5909:Plxnd1	UTSW	6	115,968,688 (GRCm38)	missense	probably benign	0.00
R5992:Plxnd1	UTSW	6	115,967,787 (GRCm38)	critical splice acceptor site	probably null
R6129:Plxnd1	UTSW	6	115,978,174 (GRCm38)	missense	probably damaging	1.00
R6254:Plxnd1	UTSW	6	115,977,960 (GRCm38)	missense	probably benign	0.01
R6273:Plxnd1	UTSW	6	115,978,492 (GRCm38)	missense	probably damaging	1.00
R6310:Plxnd1	UTSW	6	115,976,736 (GRCm38)	missense	possibly damaging	0.94
R6732:Plxnd1	UTSW	6	115,969,929 (GRCm38)	missense	possibly damaging	0.94
R6857:Plxnd1	UTSW	6	115,993,763 (GRCm38)	missense	probably benign	0.05
R7243:Plxnd1	UTSW	6	115,972,507 (GRCm38)	missense	probably benign	0.00
R7282:Plxnd1	UTSW	6	115,960,837 (GRCm38)	missense	probably damaging	1.00
R7632:Plxnd1	UTSW	6	115,976,639 (GRCm38)	missense	probably benign
R7699:Plxnd1	UTSW	6	115,959,794 (GRCm38)	missense	probably damaging	0.96
R7915:Plxnd1	UTSW	6	115,966,918 (GRCm38)	missense	probably benign	0.00
R8090:Plxnd1	UTSW	6	115,956,617 (GRCm38)	missense	probably damaging	1.00
R8382:Plxnd1	UTSW	6	115,972,472 (GRCm38)	missense	probably benign
R8507:Plxnd1	UTSW	6	115,966,905 (GRCm38)	missense	probably damaging	0.97
R8539:Plxnd1	UTSW	6	115,962,807 (GRCm38)	missense	possibly damaging	0.94
R8548:Plxnd1	UTSW	6	115,957,597 (GRCm38)	missense	probably damaging	1.00
R8963:Plxnd1	UTSW	6	115,972,545 (GRCm38)	nonsense	probably null
R9119:Plxnd1	UTSW	6	115,955,871 (GRCm38)	splice site	probably benign
R9177:Plxnd1	UTSW	6	115,966,508 (GRCm38)	missense	probably benign	0.00
R9182:Plxnd1	UTSW	6	115,993,785 (GRCm38)	missense	probably damaging	0.98
R9185:Plxnd1	UTSW	6	115,957,565 (GRCm38)	missense	probably damaging	1.00
R9226:Plxnd1	UTSW	6	115,957,563 (GRCm38)	missense	probably damaging	1.00
R9433:Plxnd1	UTSW	6	115,968,793 (GRCm38)	missense	probably benign	0.00
R9449:Plxnd1	UTSW	6	115,955,769 (GRCm38)	missense	probably damaging	1.00
R9451:Plxnd1	UTSW	6	115,963,316 (GRCm38)	missense	possibly damaging	0.72
R9599:Plxnd1	UTSW	6	115,963,313 (GRCm38)	missense	possibly damaging	0.78
R9627:Plxnd1	UTSW	6	115,963,313 (GRCm38)	missense	possibly damaging	0.78
R9644:Plxnd1	UTSW	6	115,963,313 (GRCm38)	missense	possibly damaging	0.78
R9672:Plxnd1	UTSW	6	115,963,313 (GRCm38)	missense	possibly damaging	0.78
X0024:Plxnd1	UTSW	6	115,963,310 (GRCm38)	missense	probably benign	0.02
X0026:Plxnd1	UTSW	6	115,966,784 (GRCm38)	missense	possibly damaging	0.88
Z1088:Plxnd1	UTSW	6	115,967,510 (GRCm38)	missense	probably benign	0.02

Posted On

2015-04-16