Mutagenetix > Incidental Mutation

Incidental Mutation 'R5729:Plxnd1'

452653

Institutional Source

Beutler Lab

Gene Symbol

Plxnd1

Ensembl Gene

ENSMUSG00000030123

Gene Name

plexin D1

Synonyms

6230425C21Rik, b2b1863Clo, b2b553Clo

MMRRC Submission

043346-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5729 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115931772-115971966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115942838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1282 (L1282P)

Ref Sequence

ENSEMBL: ENSMUSP00000015511 (fasta)

Gene Model

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

AlphaFold

Q3UH93

Predicted Effect

probably damaging
Transcript: ENSMUST00000015511
AA Change: L1282P

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

SMART Domains

Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: L1282P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131590

SMART Domains

Protein: ENSMUSP00000115650
Gene: ENSMUSG00000030123

Domain	Start	End	E-Value	Type
Blast:PSI	2	34	1e-13	BLAST
IPT	35	124	4.43e-20	SMART
Blast:IPT	125	177	3e-30	BLAST
Pfam:TIG	180	233	4.6e-6	PFAM

Meta Mutation Damage Score

0.7171

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (62/64)

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
Adss2	A	T	1: 177,623,824 (GRCm39)	V46E	possibly damaging	Het
Aldoart2	T	C	12: 55,612,690 (GRCm39)	V205A	probably benign	Het
Atp1a2	A	G	1: 172,120,938 (GRCm39)	S45P	probably damaging	Het
Atp4a	A	G	7: 30,411,851 (GRCm39)	K29E	possibly damaging	Het
AU040320	T	A	4: 126,724,208 (GRCm39)	D428E	probably damaging	Het
Bend7	T	C	2: 4,768,085 (GRCm39)	L347P	probably damaging	Het
Cacna2d1	T	A	5: 16,140,037 (GRCm39)	L9*	probably null	Het
Ccdc103	A	T	11: 102,773,904 (GRCm39)	I50F	probably damaging	Het
Cdc5l	T	C	17: 45,737,495 (GRCm39)	I88V	probably benign	Het
Cracr2a	T	C	6: 127,584,199 (GRCm39)	V86A	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dgkd	C	T	1: 87,864,054 (GRCm39)	Q90*	probably null	Het
Dnajc21	A	T	15: 10,449,682 (GRCm39)	D446E	probably benign	Het
Fam13a	T	G	6: 58,916,292 (GRCm39)	R648S	probably damaging	Het
Gabrg2	A	G	11: 41,858,450 (GRCm39)	V226A	probably damaging	Het
Gm5499	A	T	17: 87,385,944 (GRCm39)		noncoding transcript	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Irf2bp1	G	T	7: 18,739,172 (GRCm39)	E271*	probably null	Het
Krt86	T	G	15: 101,374,429 (GRCm39)	V274G	probably benign	Het
Lats2	A	T	14: 57,960,192 (GRCm39)	C151S	probably benign	Het
Mapk3	A	T	7: 126,363,979 (GRCm39)	T254S	probably benign	Het
Mat2b	A	T	11: 40,573,373 (GRCm39)	M202K	probably damaging	Het
Mos	A	G	4: 3,870,971 (GRCm39)	Y282H	probably benign	Het
Myo3b	A	G	2: 69,936,083 (GRCm39)	K108R	probably damaging	Het
Naa16	A	G	14: 79,593,220 (GRCm39)	Y417H	probably damaging	Het
Oat	A	T	7: 132,159,984 (GRCm39)	I412N	probably damaging	Het
Or4d11	A	T	19: 12,013,272 (GRCm39)	I278N	probably damaging	Het
Pcdh1	A	T	18: 38,335,999 (GRCm39)	V73D	probably damaging	Het
Pigv	A	T	4: 133,392,134 (GRCm39)	Y345*	probably null	Het
Pitpnc1	G	T	11: 107,228,264 (GRCm39)	F34L	probably benign	Het
Ppp1r3a	T	C	6: 14,719,762 (GRCm39)	D384G	probably benign	Het
Ppp2ca	G	A	11: 52,008,856 (GRCm39)	E119K	probably damaging	Het
Psg29	A	T	7: 16,944,459 (GRCm39)	N323I	probably damaging	Het
Rasa4	T	C	5: 136,122,016 (GRCm39)	V108A	probably benign	Het
Rbm14	A	G	19: 4,852,577 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,434,795 (GRCm39)	V657E	probably damaging	Het
Rhcg	A	T	7: 79,250,371 (GRCm39)	N237K	probably damaging	Het
Rpgrip1	A	G	14: 52,397,617 (GRCm39)	Q1302R	probably benign	Het
Rragc	A	G	4: 123,818,645 (GRCm39)	M287V	possibly damaging	Het
Scn7a	A	G	2: 66,572,301 (GRCm39)		probably null	Het
Sema6a	C	T	18: 47,414,410 (GRCm39)	C506Y	probably damaging	Het
Senp1	G	T	15: 97,964,412 (GRCm39)	H267Q	possibly damaging	Het
Skor2	A	G	18: 76,946,578 (GRCm39)	E100G	unknown	Het
Slc38a11	A	T	2: 65,147,365 (GRCm39)	C371S	probably benign	Het
Snai3	G	A	8: 123,181,629 (GRCm39)	A276V	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Spag6	C	T	2: 18,720,525 (GRCm39)	T99I	probably benign	Het
Spop	A	G	11: 95,376,675 (GRCm39)	I243V	possibly damaging	Het
Sra1	A	T	18: 36,800,496 (GRCm39)		probably benign	Het
Stag3	T	A	5: 138,288,485 (GRCm39)	S140T	possibly damaging	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Tbc1d2b	G	C	9: 90,089,925 (GRCm39)	A868G	probably benign	Het
Tead2	A	G	7: 44,870,166 (GRCm39)		probably benign	Het
Tmem53	C	A	4: 117,125,669 (GRCm39)	H261N	probably damaging	Het
Ube4a	A	T	9: 44,844,627 (GRCm39)	S932T	probably damaging	Het
Usp9y	A	T	Y: 1,381,339 (GRCm39)	D827E	probably damaging	Het
Vmn2r53	T	C	7: 12,334,733 (GRCm39)	E309G	probably damaging	Het
Wrn	T	C	8: 33,758,806 (GRCm39)	S1026G	probably benign	Het
Zfp646	G	A	7: 127,484,626 (GRCm39)	A1760T	probably damaging	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
IGL02272:Plxnd1	APN	6	115,970,589 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTTAGTAGCTCCCAAATTCGTCTGC -3'
(R):5'- TTGTCTGTGAGGCTCAGAGC -3'

Sequencing Primer
(F):5'- ATTCGTCTGCCTCACATCCAAAG -3'
(R):5'- GCTCAGAGCACACAACAGTAAGAAG -3'

Posted On

2017-01-03