Mutagenetix > Incidental Mutation

Incidental Mutation 'R1449:Plxdc2'

159101

Institutional Source

Beutler Lab

Gene Symbol

Plxdc2

Ensembl Gene

ENSMUSG00000026748

Gene Name

plexin domain containing 2

Synonyms

1200007L24Rik, Tem7r, 5430431D22Rik

MMRRC Submission

039504-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1449 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16361115-16760650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16665592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 215 (V215A)

Ref Sequence

ENSEMBL: ENSMUSP00000110351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028081] [ENSMUST00000114702] [ENSMUST00000114703]

AlphaFold

Q9DC11

Predicted Effect

probably benign
Transcript: ENSMUST00000028081
AA Change: V264A

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028081
Gene: ENSMUSG00000026748
AA Change: V264A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
PSI	327	372	1.52e-3	SMART
low complexity region	390	401	N/A	INTRINSIC
transmembrane domain	455	477	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114702
AA Change: V264A

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110350
Gene: ENSMUSG00000026748
AA Change: V264A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
PSI	327	372	1.52e-3	SMART
low complexity region	388	399	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114703
AA Change: V215A

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110351
Gene: ENSMUSG00000026748
AA Change: V215A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
PSI	278	323	1.52e-3	SMART
low complexity region	339	350	N/A	INTRINSIC
transmembrane domain	404	426	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126173

Coding Region Coverage

1x: 98.8%
3x: 97.9%
10x: 94.7%
20x: 87.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic reporter allele are viable and behaviorally normal with no apparent abnormalities in the developing and mature nervous system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	G	4: 137,182,666 (GRCm39)	N274D	possibly damaging	Het
6430571L13Rik	T	A	9: 107,219,689 (GRCm39)	N47K	probably damaging	Het
Aasdh	C	T	5: 77,034,136 (GRCm39)	A472T	probably benign	Het
Abca13	A	G	11: 9,248,580 (GRCm39)	T2776A	probably damaging	Het
Adamts10	T	A	17: 33,764,613 (GRCm39)	V711D	probably damaging	Het
Adrb3	G	A	8: 27,717,415 (GRCm39)	R345C	probably damaging	Het
Ak7	T	C	12: 105,708,520 (GRCm39)	V325A	possibly damaging	Het
Armc6	G	A	8: 70,677,943 (GRCm39)	L129F	probably benign	Het
Bend6	T	C	1: 33,917,424 (GRCm39)	N10S	probably benign	Het
Bmpr1b	T	C	3: 141,577,134 (GRCm39)	E59G	possibly damaging	Het
Brd3	A	G	2: 27,340,263 (GRCm39)		probably null	Het
Brd3	A	G	2: 27,347,028 (GRCm39)	Y369H	probably damaging	Het
Cacna1e	C	T	1: 154,361,408 (GRCm39)		probably null	Het
Camk4	A	G	18: 33,072,528 (GRCm39)	D27G	probably damaging	Het
Camkk1	T	G	11: 72,924,710 (GRCm39)	S308A	probably damaging	Het
Catsperb	A	G	12: 101,554,456 (GRCm39)	T717A	probably benign	Het
Cdh23	A	T	10: 60,212,730 (GRCm39)	S1563R	probably damaging	Het
Cep44	A	T	8: 56,993,985 (GRCm39)	S197R	probably benign	Het
Col3a1	T	A	1: 45,360,771 (GRCm39)	I67N	unknown	Het
Dcaf12l1	T	C	X: 43,878,304 (GRCm39)	T165A	probably benign	Het
Dicer1	T	C	12: 104,695,502 (GRCm39)	Y143C	possibly damaging	Het
Dlg5	A	G	14: 24,185,711 (GRCm39)	I1898T	possibly damaging	Het
Dnah1	T	C	14: 30,985,908 (GRCm39)	N3762D	probably damaging	Het
Dscaml1	A	T	9: 45,653,521 (GRCm39)	T1382S	possibly damaging	Het
Entpd3	A	T	9: 120,395,555 (GRCm39)	R513W	probably damaging	Het
Foxred1	A	G	9: 35,120,738 (GRCm39)	S132P	probably damaging	Het
Ftsj3	T	C	11: 106,143,826 (GRCm39)	I273V	probably benign	Het
Hsd17b7	C	T	1: 169,787,251 (GRCm39)		probably null	Het
Iars1	T	A	13: 49,887,186 (GRCm39)	V1253D	probably damaging	Het
Iqsec1	T	A	6: 90,667,790 (GRCm39)	K216*	probably null	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Kcnk2	G	A	1: 189,072,223 (GRCm39)	S35L	probably benign	Het
Kif13a	T	C	13: 46,966,212 (GRCm39)	Y402C	probably damaging	Het
Lamc1	A	G	1: 153,126,241 (GRCm39)	S484P	probably benign	Het
Lap3	T	C	5: 45,666,861 (GRCm39)		probably null	Het
Lhx8	G	T	3: 154,033,742 (GRCm39)	S46*	probably null	Het
Lin7a	T	C	10: 107,159,813 (GRCm39)	S42P	probably damaging	Het
Lrba	G	A	3: 86,261,585 (GRCm39)	R1513Q	probably damaging	Het
Maml2	C	A	9: 13,531,980 (GRCm39)	P398Q	possibly damaging	Het
Mast2	T	C	4: 116,166,210 (GRCm39)	I1201V	probably damaging	Het
Mmp20	A	T	9: 7,642,769 (GRCm39)	D201V	probably damaging	Het
Morn5	T	A	2: 35,947,092 (GRCm39)	C123*	probably null	Het
Mrpl4	A	G	9: 20,918,807 (GRCm39)	K175E	possibly damaging	Het
Nav3	A	T	10: 109,689,372 (GRCm39)	S302T	probably benign	Het
Ndrg2	T	C	14: 52,145,591 (GRCm39)	Y217C	probably damaging	Het
Nfx1	A	G	4: 40,976,803 (GRCm39)	D159G	probably damaging	Het
Nlrp9b	A	T	7: 19,757,089 (GRCm39)	T109S	possibly damaging	Het
Npepps	A	G	11: 97,097,980 (GRCm39)	Y909H	probably benign	Het
Or10g1	A	G	14: 52,648,024 (GRCm39)	C102R	probably damaging	Het
Or11g7	A	G	14: 50,691,378 (GRCm39)	N290D	probably damaging	Het
Or51a25	A	T	7: 102,373,397 (GRCm39)	F100Y	probably damaging	Het
Or6c211	T	A	10: 129,506,238 (GRCm39)	D50V	probably damaging	Het
Or6c69b	A	C	10: 129,626,723 (GRCm39)	V245G	probably damaging	Het
Pcdh1	T	C	18: 38,322,929 (GRCm39)	H968R	probably damaging	Het
Pde1b	T	A	15: 103,433,470 (GRCm39)	I296N	probably damaging	Het
Phldb1	T	A	9: 44,627,930 (GRCm39)	T172S	probably benign	Het
Poln	A	G	5: 34,171,682 (GRCm39)	I695T	probably damaging	Het
Pou6f2	G	T	13: 18,347,000 (GRCm39)	Q31K	probably damaging	Het
Psd	T	A	19: 46,313,250 (GRCm39)	Y40F	probably damaging	Het
Rnf126	T	C	10: 79,597,448 (GRCm39)	N155D	probably benign	Het
Rpl36-ps3	C	A	12: 12,962,032 (GRCm39)		noncoding transcript	Het
Rrp15	C	A	1: 186,468,465 (GRCm39)	V184F	possibly damaging	Het
Rslcan18	G	T	13: 67,250,164 (GRCm39)	L24M	possibly damaging	Het
Sall1	A	G	8: 89,759,111 (GRCm39)	I331T	probably benign	Het
Slamf7	A	T	1: 171,468,606 (GRCm39)	N95K	possibly damaging	Het
Slc1a6	T	C	10: 78,635,951 (GRCm39)	Y339H	probably damaging	Het
Slc39a8	A	G	3: 135,532,446 (GRCm39)	N72D	probably benign	Het
Slf1	A	G	13: 77,231,568 (GRCm39)	S604P	probably damaging	Het
Slfn4	C	T	11: 83,079,819 (GRCm39)	T110M	probably benign	Het
Tnpo1	T	C	13: 99,015,220 (GRCm39)	T116A	probably damaging	Het
Tor1b	T	C	2: 30,845,893 (GRCm39)	I190T	probably damaging	Het
Ttn	C	A	2: 76,800,138 (GRCm39)	E357*	probably null	Het
Tubg2	G	T	11: 101,047,699 (GRCm39)	E95*	probably null	Het
Ubap2	A	G	4: 41,209,351 (GRCm39)		probably null	Het
Ube2i	T	C	17: 25,487,538 (GRCm39)	D67G	possibly damaging	Het
Ubxn11	A	G	4: 133,852,203 (GRCm39)	E50G	probably damaging	Het
Wnk1	A	G	6: 119,929,779 (GRCm39)	V1246A	probably damaging	Het
Zcchc7	A	G	4: 44,929,124 (GRCm39)	T38A	possibly damaging	Het
Zfp236	A	G	18: 82,664,130 (GRCm39)	S552P	probably damaging	Het

Other mutations in Plxdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Plxdc2	APN	2	16,654,950 (GRCm39)	missense	probably damaging	1.00
IGL01700:Plxdc2	APN	2	16,516,926 (GRCm39)	missense	probably benign	0.00
IGL02306:Plxdc2	APN	2	16,665,585 (GRCm39)	missense	probably benign	0.06
IGL02555:Plxdc2	APN	2	16,734,152 (GRCm39)	missense	probably benign	0.02
IGL02558:Plxdc2	APN	2	16,674,409 (GRCm39)	splice site	probably benign
IGL03031:Plxdc2	APN	2	16,655,043 (GRCm39)	splice site	probably null
IGL03114:Plxdc2	APN	2	16,654,935 (GRCm39)	missense	probably damaging	1.00
R1024:Plxdc2	UTSW	2	16,716,917 (GRCm39)	missense	probably benign	0.00
R1840:Plxdc2	UTSW	2	16,674,667 (GRCm39)	missense	probably benign	0.11
R2091:Plxdc2	UTSW	2	16,718,494 (GRCm39)	missense	probably damaging	1.00
R2129:Plxdc2	UTSW	2	16,516,902 (GRCm39)	missense	probably benign
R2192:Plxdc2	UTSW	2	16,570,147 (GRCm39)	missense	probably damaging	0.99
R2287:Plxdc2	UTSW	2	16,517,001 (GRCm39)	missense	probably benign	0.00
R2567:Plxdc2	UTSW	2	16,716,995 (GRCm39)	missense	probably benign	0.00
R3964:Plxdc2	UTSW	2	16,665,651 (GRCm39)	missense	probably damaging	0.98
R4167:Plxdc2	UTSW	2	16,570,196 (GRCm39)	missense	probably damaging	0.99
R4496:Plxdc2	UTSW	2	16,517,040 (GRCm39)	missense	probably damaging	1.00
R4876:Plxdc2	UTSW	2	16,708,129 (GRCm39)	missense	probably damaging	1.00
R4891:Plxdc2	UTSW	2	16,716,957 (GRCm39)	missense	probably benign
R5238:Plxdc2	UTSW	2	16,655,026 (GRCm39)	missense	probably damaging	1.00
R5389:Plxdc2	UTSW	2	16,654,998 (GRCm39)	missense	probably damaging	1.00
R5984:Plxdc2	UTSW	2	16,665,666 (GRCm39)	missense	probably benign	0.28
R6675:Plxdc2	UTSW	2	16,716,932 (GRCm39)	missense	probably benign
R6751:Plxdc2	UTSW	2	16,552,952 (GRCm39)	missense	probably benign	0.14
R7676:Plxdc2	UTSW	2	16,716,894 (GRCm39)	missense	probably benign	0.01
R7757:Plxdc2	UTSW	2	16,734,187 (GRCm39)	missense	probably benign	0.37
R7813:Plxdc2	UTSW	2	16,665,678 (GRCm39)	missense	possibly damaging	0.56
R7919:Plxdc2	UTSW	2	16,553,036 (GRCm39)	missense	probably damaging	0.98
R9783:Plxdc2	UTSW	2	16,674,349 (GRCm39)	nonsense	probably null
Z1176:Plxdc2	UTSW	2	16,570,214 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GCCCAACACATGACCTGATGCTTT -3'
(R):5'- ATGGGACACTGTAGGACTGTCAACT -3'

Sequencing Primer
(F):5'- GCGTTAAACAGATGTAATTTGAGGC -3'
(R):5'- CTGCTGTTGTTAGTACAGAACTC -3'

Posted On

2014-03-14