Mutagenetix > Incidental Mutation

Incidental Mutation 'R2134:Plxnd1'

233627

Institutional Source

Beutler Lab

Gene Symbol

Plxnd1

Ensembl Gene

ENSMUSG00000030123

Gene Name

plexin D1

Synonyms

6230425C21Rik, b2b1863Clo, b2b553Clo

MMRRC Submission

040137-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2134 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

115931772-115971966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115934509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1808 (I1808N)

Ref Sequence

ENSEMBL: ENSMUSP00000015511 (fasta)

Gene Model

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

AlphaFold

Q3UH93

Predicted Effect

probably damaging
Transcript: ENSMUST00000015511
AA Change: I1808N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015511
Gene: ENSMUSG00000030123
AA Change: I1808N

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

noncoding transcript
Transcript: ENSMUST00000123165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205003

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,921,743 (GRCm39)	V1437E	probably null	Het
Adam12	G	A	7: 133,614,017 (GRCm39)	R80*	probably null	Het
Adgrb3	G	T	1: 25,133,038 (GRCm39)	F479L	probably damaging	Het
Atf7ip	T	A	6: 136,582,485 (GRCm39)	V1165E	possibly damaging	Het
Atm	C	T	9: 53,379,264 (GRCm39)		probably null	Het
Atp11c	A	G	X: 59,322,143 (GRCm39)	Y593H	probably damaging	Het
Btnl1	A	G	17: 34,604,608 (GRCm39)	D463G	possibly damaging	Het
Cdc34b	T	G	11: 94,633,252 (GRCm39)	W151G	probably damaging	Het
Cdkal1	A	G	13: 29,538,660 (GRCm39)	S500P	possibly damaging	Het
Cenpf	T	C	1: 189,390,839 (GRCm39)	N998D	probably benign	Het
Ces2e	T	A	8: 105,659,171 (GRCm39)		probably null	Het
Chd7	A	G	4: 8,753,147 (GRCm39)	Q548R	probably damaging	Het
Chfr	T	A	5: 110,292,627 (GRCm39)		probably null	Het
Clu	A	G	14: 66,212,290 (GRCm39)		probably null	Het
Cntnap5c	A	G	17: 58,714,717 (GRCm39)	D1235G	probably damaging	Het
Col6a4	T	C	9: 105,943,860 (GRCm39)	S1205G	probably benign	Het
Ddx47	G	T	6: 134,992,313 (GRCm39)	E113*	probably null	Het
Dock4	A	G	12: 40,795,667 (GRCm39)	Y828C	probably benign	Het
Dync1h1	T	A	12: 110,623,065 (GRCm39)	N3553K	possibly damaging	Het
Egflam	C	T	15: 7,263,760 (GRCm39)	C730Y	probably damaging	Het
Fam83b	T	C	9: 76,398,298 (GRCm39)	Y935C	probably damaging	Het
Fam83g	A	G	11: 61,594,510 (GRCm39)	I681M	probably benign	Het
Fastk	T	C	5: 24,650,139 (GRCm39)	R3G	probably damaging	Het
Fxr1	A	T	3: 34,112,196 (GRCm39)	E367D	probably damaging	Het
Gatb	A	G	3: 85,518,677 (GRCm39)	D261G	probably damaging	Het
Gm5617	T	C	9: 48,407,117 (GRCm39)	S84P	possibly damaging	Het
Hecw1	C	T	13: 14,552,285 (GRCm39)	E104K	probably damaging	Het
Il31ra	T	C	13: 112,680,422 (GRCm39)	K265R	possibly damaging	Het
Khsrp	GTCATT	GT	17: 57,331,410 (GRCm39)		probably null	Het
Lrp2	T	A	2: 69,341,411 (GRCm39)	D923V	probably damaging	Het
Ltn1	A	G	16: 87,179,601 (GRCm39)	L1520P	probably damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Map1s	T	G	8: 71,366,526 (GRCm39)	V477G	probably benign	Het
Mical1	T	C	10: 41,358,708 (GRCm39)	L542P	probably damaging	Het
Mtcl3	T	A	10: 29,072,395 (GRCm39)	Y562*	probably null	Het
Mycbp2	T	C	14: 103,446,329 (GRCm39)	Y1800C	probably damaging	Het
Mylk	A	T	16: 34,806,846 (GRCm39)	D1697V	probably benign	Het
Nlrp1a	A	T	11: 71,015,014 (GRCm39)	F79I	probably benign	Het
Or52d3	T	C	7: 104,228,848 (GRCm39)		probably benign	Het
Pde9a	A	G	17: 31,605,284 (GRCm39)	Y6C	probably damaging	Het
Ppp1r13b	T	A	12: 111,800,167 (GRCm39)	T537S	probably benign	Het
Ppp2r2a	A	G	14: 67,253,924 (GRCm39)	F415L	possibly damaging	Het
Rabgap1	C	T	2: 37,453,499 (GRCm39)	R976*	probably null	Het
Rbfox3	T	C	11: 118,387,842 (GRCm39)	H195R	probably damaging	Het
Ripk4	A	T	16: 97,544,933 (GRCm39)	D571E	probably damaging	Het
Sdhaf4	T	A	1: 24,044,634 (GRCm39)	R16S	probably benign	Het
Slc17a1	G	T	13: 24,059,658 (GRCm39)	G130*	probably null	Het
Slc6a1	G	T	6: 114,278,977 (GRCm39)	A23S	probably benign	Het
Slco1a8	T	C	6: 141,926,704 (GRCm39)	I541V	probably damaging	Het
Spock1	T	A	13: 57,583,952 (GRCm39)	Q321L	probably damaging	Het
Syne2	A	G	12: 75,999,560 (GRCm39)	I2318V	probably damaging	Het
Terf2ip	T	C	8: 112,738,271 (GRCm39)	V53A	possibly damaging	Het
Thrb	T	C	14: 18,033,487 (GRCm38)	F403L	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Uqcrfs1	T	C	13: 30,724,787 (GRCm39)	K251R	probably benign	Het
Vmn2r111	T	C	17: 22,792,085 (GRCm39)	E57G	possibly damaging	Het
Vmn2r114	T	A	17: 23,510,737 (GRCm39)	Y581F	probably damaging	Het
Vps13d	A	G	4: 144,874,909 (GRCm39)	V1866A	probably benign	Het
Washc5	A	T	15: 59,241,083 (GRCm39)	F84Y	probably damaging	Het
Yars1	T	A	4: 129,090,992 (GRCm39)	Y28*	probably null	Het
Zfp638	A	G	6: 83,905,964 (GRCm39)	Y43C	probably damaging	Het
Zfp750	T	A	11: 121,404,758 (GRCm39)	H39L	probably damaging	Het
Zfr2	C	A	10: 81,078,735 (GRCm39)	S322R	probably damaging	Het
Zzef1	A	G	11: 72,771,450 (GRCm39)	D1644G	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACTGAACCGGCATATCCTC -3'
(R):5'- CCACATATCCAGAGGCTTCAG -3'

Sequencing Primer
(F):5'- GCATATCCTCTGCCCTTGG -3'
(R):5'- GAGGACCAGCATTGTCTACCTC -3'

Posted On

2014-10-01