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

6230425C21Rik, b2b1863Clo, b2b553Clo

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

115931772-115971966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115970589 bp (GRCm39)

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: 57,757,021 (GRCm39)	C759*	probably null	Het
Adgrg6	T	A	10: 14,344,573 (GRCm39)	M127L	probably damaging	Het
Anxa9	A	G	3: 95,213,205 (GRCm39)	V47A	probably benign	Het
Arhgef12	T	A	9: 42,912,748 (GRCm39)	D483V	probably damaging	Het
Arrdc3	C	A	13: 81,039,769 (GRCm39)		probably benign	Het
Ccdc169	A	G	3: 55,058,169 (GRCm39)	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,780,385 (GRCm39)	V731D	possibly damaging	Het
Cdh3	G	T	8: 107,274,468 (GRCm39)		probably null	Het
Cntnap1	G	A	11: 101,069,142 (GRCm39)	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,905,225 (GRCm39)	V852E	probably damaging	Het
Csmd1	A	T	8: 16,249,907 (GRCm39)	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,930,075 (GRCm39)		probably benign	Het
Dusp6	T	A	10: 99,101,881 (GRCm39)	V289D	probably damaging	Het
Ecpas	A	T	4: 58,811,731 (GRCm39)	N1439K	probably benign	Het
Epha6	C	T	16: 59,639,300 (GRCm39)	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,746,478 (GRCm39)	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,258,242 (GRCm39)	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,475,707 (GRCm39)	V152E	probably benign	Het
Hmces	A	G	6: 87,894,837 (GRCm39)		probably null	Het
Hsph1	A	G	5: 149,540,995 (GRCm39)	S852P	probably benign	Het
Kat6b	A	C	14: 21,676,846 (GRCm39)	K394Q	probably damaging	Het
Kdr	G	A	5: 76,122,500 (GRCm39)	T475I	probably benign	Het
Klhl25	A	G	7: 75,516,368 (GRCm39)	T425A	probably benign	Het
Klk1b8	T	A	7: 43,602,217 (GRCm39)	C50S	probably damaging	Het
Kri1	T	C	9: 21,187,464 (GRCm39)	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,355,768 (GRCm39)	S953P	probably benign	Het
Lpin1	A	G	12: 16,597,601 (GRCm39)	V681A	probably damaging	Het
Lpin3	A	G	2: 160,743,581 (GRCm39)	T508A	probably benign	Het
Moxd1	T	A	10: 24,158,598 (GRCm39)	Y417*	probably null	Het
Mthfd1l	T	G	10: 3,991,812 (GRCm39)	I588S	probably damaging	Het
Myo5c	C	A	9: 75,173,442 (GRCm39)	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,791,883 (GRCm39)		probably benign	Het
Nme8	T	C	13: 19,842,996 (GRCm39)	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,443,975 (GRCm39)	N249T	probably damaging	Het
Pex11g	A	G	8: 3,515,898 (GRCm39)	V45A	probably benign	Het
Pkhd1	C	A	1: 20,279,484 (GRCm39)	G2945W	probably damaging	Het
Ppp3cc	A	G	14: 70,473,938 (GRCm39)	V353A	probably damaging	Het
Prss16	T	A	13: 22,187,205 (GRCm39)	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,698,171 (GRCm39)	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,443,877 (GRCm39)	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,836,239 (GRCm39)	L598F	probably damaging	Het
Sardh	T	G	2: 27,115,003 (GRCm39)	D550A	probably benign	Het
Serpinc1	T	G	1: 160,827,562 (GRCm39)	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,028,474 (GRCm39)	D650V	probably benign	Het
Sipa1l2	T	A	8: 126,218,750 (GRCm39)	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,716,621 (GRCm39)	T294A	probably benign	Het
Srrm2	T	C	17: 24,034,756 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,727,612 (GRCm39)	N241I	probably benign	Het
Tcaf3	T	C	6: 42,573,594 (GRCm39)	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,814,297 (GRCm39)	Q322L	probably damaging	Het
Tnni2	C	A	7: 141,997,166 (GRCm39)	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,565,372 (GRCm39)	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,853,352 (GRCm39)	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071 (GRCm39)	K331N	probably damaging	Het
Usp50	G	A	2: 126,611,864 (GRCm39)	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,604,973 (GRCm39)	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,604,978 (GRCm39)	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,763,843 (GRCm39)	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,399,901 (GRCm39)	R383G	probably benign	Het

Other mutations in Plxnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Plxnd1	APN	6	115,944,933 (GRCm39)	missense	possibly damaging	0.51
IGL01099:Plxnd1	APN	6	115,946,906 (GRCm39)	missense	probably benign
IGL01323:Plxnd1	APN	6	115,943,760 (GRCm39)	missense	possibly damaging	0.81
IGL01382:Plxnd1	APN	6	115,937,488 (GRCm39)	missense	probably damaging	1.00
IGL01786:Plxnd1	APN	6	115,936,896 (GRCm39)	missense	probably damaging	1.00
IGL02244:Plxnd1	APN	6	115,955,218 (GRCm39)	missense	probably benign	0.39
IGL02293:Plxnd1	APN	6	115,940,874 (GRCm39)	missense	probably damaging	1.00
IGL02465:Plxnd1	APN	6	115,932,703 (GRCm39)	makesense	probably null
IGL02873:Plxnd1	APN	6	115,936,937 (GRCm39)	missense	probably damaging	1.00
IGL03209:Plxnd1	APN	6	115,939,318 (GRCm39)	missense	probably damaging	1.00
Hiss	UTSW	6	115,946,890 (GRCm39)	missense	possibly damaging	0.94
murmer	UTSW	6	115,945,754 (GRCm39)	missense	probably benign	0.00
mutter	UTSW	6	115,945,005 (GRCm39)	missense	probably benign	0.27
rattle	UTSW	6	115,936,755 (GRCm39)	missense	probably damaging	0.96
R0238:Plxnd1	UTSW	6	115,945,754 (GRCm39)	missense	probably benign	0.00
R0238:Plxnd1	UTSW	6	115,945,754 (GRCm39)	missense	probably benign	0.00
R0239:Plxnd1	UTSW	6	115,945,754 (GRCm39)	missense	probably benign	0.00
R0239:Plxnd1	UTSW	6	115,945,754 (GRCm39)	missense	probably benign	0.00
R0357:Plxnd1	UTSW	6	115,946,421 (GRCm39)	missense	probably benign	0.00
R0646:Plxnd1	UTSW	6	115,935,660 (GRCm39)	splice site	probably benign
R0648:Plxnd1	UTSW	6	115,970,962 (GRCm39)	missense	possibly damaging	0.86
R0718:Plxnd1	UTSW	6	115,943,599 (GRCm39)	missense	possibly damaging	0.68
R1116:Plxnd1	UTSW	6	115,943,966 (GRCm39)	splice site	probably null
R1292:Plxnd1	UTSW	6	115,939,644 (GRCm39)	unclassified	probably benign
R1715:Plxnd1	UTSW	6	115,945,642 (GRCm39)	missense	probably benign	0.02
R1760:Plxnd1	UTSW	6	115,944,740 (GRCm39)	missense	possibly damaging	0.95
R1799:Plxnd1	UTSW	6	115,971,018 (GRCm39)	missense	probably damaging	1.00
R1817:Plxnd1	UTSW	6	115,957,562 (GRCm39)	missense	possibly damaging	0.83
R1848:Plxnd1	UTSW	6	115,943,507 (GRCm39)	missense	probably damaging	1.00
R1851:Plxnd1	UTSW	6	115,940,875 (GRCm39)	missense	probably damaging	1.00
R1864:Plxnd1	UTSW	6	115,946,402 (GRCm39)	splice site	probably null
R1865:Plxnd1	UTSW	6	115,946,402 (GRCm39)	splice site	probably null
R1875:Plxnd1	UTSW	6	115,955,045 (GRCm39)	splice site	probably null
R1899:Plxnd1	UTSW	6	115,946,324 (GRCm39)	missense	probably benign
R1913:Plxnd1	UTSW	6	115,954,978 (GRCm39)	missense	possibly damaging	0.50
R1970:Plxnd1	UTSW	6	115,939,478 (GRCm39)	missense	probably damaging	1.00
R2007:Plxnd1	UTSW	6	115,944,216 (GRCm39)	missense	probably damaging	1.00
R2134:Plxnd1	UTSW	6	115,934,509 (GRCm39)	missense	probably damaging	1.00
R2202:Plxnd1	UTSW	6	115,939,725 (GRCm39)	missense	probably benign	0.45
R2230:Plxnd1	UTSW	6	115,941,105 (GRCm39)	missense	probably damaging	1.00
R2267:Plxnd1	UTSW	6	115,939,704 (GRCm39)	missense	probably benign	0.29
R2427:Plxnd1	UTSW	6	115,944,709 (GRCm39)	critical splice donor site	probably null
R4108:Plxnd1	UTSW	6	115,936,276 (GRCm39)	missense	probably damaging	1.00
R4233:Plxnd1	UTSW	6	115,942,914 (GRCm39)	missense	probably benign	0.30
R4280:Plxnd1	UTSW	6	115,933,056 (GRCm39)	splice site	probably null
R4280:Plxnd1	UTSW	6	115,933,055 (GRCm39)	splice site	probably benign
R4346:Plxnd1	UTSW	6	115,954,941 (GRCm39)	missense	probably benign	0.16
R4439:Plxnd1	UTSW	6	115,970,937 (GRCm39)	missense	probably damaging	0.99
R4572:Plxnd1	UTSW	6	115,932,717 (GRCm39)	missense	probably damaging	1.00
R4576:Plxnd1	UTSW	6	115,945,005 (GRCm39)	missense	probably benign	0.27
R4599:Plxnd1	UTSW	6	115,971,237 (GRCm39)	missense	probably damaging	1.00
R4614:Plxnd1	UTSW	6	115,949,486 (GRCm39)	missense	possibly damaging	0.83
R4700:Plxnd1	UTSW	6	115,935,576 (GRCm39)	missense	probably damaging	1.00
R4705:Plxnd1	UTSW	6	115,935,581 (GRCm39)	missense	probably damaging	1.00
R4806:Plxnd1	UTSW	6	115,937,816 (GRCm39)	missense	probably damaging	1.00
R4944:Plxnd1	UTSW	6	115,932,726 (GRCm39)	missense	probably damaging	1.00
R4977:Plxnd1	UTSW	6	115,971,337 (GRCm39)	missense	probably damaging	1.00
R5069:Plxnd1	UTSW	6	115,942,862 (GRCm39)	missense	probably damaging	0.98
R5155:Plxnd1	UTSW	6	115,935,949 (GRCm39)	critical splice donor site	probably null
R5460:Plxnd1	UTSW	6	115,934,609 (GRCm39)	missense	probably damaging	1.00
R5729:Plxnd1	UTSW	6	115,942,838 (GRCm39)	missense	probably damaging	1.00
R5909:Plxnd1	UTSW	6	115,945,649 (GRCm39)	missense	probably benign	0.00
R5992:Plxnd1	UTSW	6	115,944,748 (GRCm39)	critical splice acceptor site	probably null
R6129:Plxnd1	UTSW	6	115,955,135 (GRCm39)	missense	probably damaging	1.00
R6254:Plxnd1	UTSW	6	115,954,921 (GRCm39)	missense	probably benign	0.01
R6273:Plxnd1	UTSW	6	115,955,453 (GRCm39)	missense	probably damaging	1.00
R6310:Plxnd1	UTSW	6	115,953,697 (GRCm39)	missense	possibly damaging	0.94
R6732:Plxnd1	UTSW	6	115,946,890 (GRCm39)	missense	possibly damaging	0.94
R6857:Plxnd1	UTSW	6	115,970,724 (GRCm39)	missense	probably benign	0.05
R7243:Plxnd1	UTSW	6	115,949,468 (GRCm39)	missense	probably benign	0.00
R7282:Plxnd1	UTSW	6	115,937,798 (GRCm39)	missense	probably damaging	1.00
R7632:Plxnd1	UTSW	6	115,953,600 (GRCm39)	missense	probably benign
R7699:Plxnd1	UTSW	6	115,936,755 (GRCm39)	missense	probably damaging	0.96
R7915:Plxnd1	UTSW	6	115,943,879 (GRCm39)	missense	probably benign	0.00
R8090:Plxnd1	UTSW	6	115,933,578 (GRCm39)	missense	probably damaging	1.00
R8382:Plxnd1	UTSW	6	115,949,433 (GRCm39)	missense	probably benign
R8507:Plxnd1	UTSW	6	115,943,866 (GRCm39)	missense	probably damaging	0.97
R8539:Plxnd1	UTSW	6	115,939,768 (GRCm39)	missense	possibly damaging	0.94
R8548:Plxnd1	UTSW	6	115,934,558 (GRCm39)	missense	probably damaging	1.00
R8963:Plxnd1	UTSW	6	115,949,506 (GRCm39)	nonsense	probably null
R9119:Plxnd1	UTSW	6	115,932,832 (GRCm39)	splice site	probably benign
R9177:Plxnd1	UTSW	6	115,943,469 (GRCm39)	missense	probably benign	0.00
R9182:Plxnd1	UTSW	6	115,970,746 (GRCm39)	missense	probably damaging	0.98
R9185:Plxnd1	UTSW	6	115,934,526 (GRCm39)	missense	probably damaging	1.00
R9226:Plxnd1	UTSW	6	115,934,524 (GRCm39)	missense	probably damaging	1.00
R9433:Plxnd1	UTSW	6	115,945,754 (GRCm39)	missense	probably benign	0.00
R9449:Plxnd1	UTSW	6	115,932,730 (GRCm39)	missense	probably damaging	1.00
R9451:Plxnd1	UTSW	6	115,940,277 (GRCm39)	missense	possibly damaging	0.72
R9599:Plxnd1	UTSW	6	115,940,274 (GRCm39)	missense	possibly damaging	0.78
R9627:Plxnd1	UTSW	6	115,940,274 (GRCm39)	missense	possibly damaging	0.78
R9644:Plxnd1	UTSW	6	115,940,274 (GRCm39)	missense	possibly damaging	0.78
R9672:Plxnd1	UTSW	6	115,940,274 (GRCm39)	missense	possibly damaging	0.78
X0024:Plxnd1	UTSW	6	115,940,271 (GRCm39)	missense	probably benign	0.02
X0026:Plxnd1	UTSW	6	115,943,745 (GRCm39)	missense	possibly damaging	0.88
Z1088:Plxnd1	UTSW	6	115,944,471 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16