Incidental Mutation 'R2567:Plxdc2'
ID254523
Institutional Source Beutler Lab
Gene Symbol Plxdc2
Ensembl Gene ENSMUSG00000026748
Gene Nameplexin domain containing 2
Synonyms5430431D22Rik, 1200007L24Rik, Tem7r
MMRRC Submission 040426-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2567 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location16356304-16755839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 16712184 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 360 (R360G)
Ref Sequence ENSEMBL: ENSMUSP00000110351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028081] [ENSMUST00000114702] [ENSMUST00000114703]
Predicted Effect probably benign
Transcript: ENSMUST00000028081
AA Change: R411G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028081
Gene: ENSMUSG00000026748
AA Change: R411G

DomainStartEndE-ValueType
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: R409G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110350
Gene: ENSMUSG00000026748
AA Change: R409G

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000114703
AA Change: R360G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110351
Gene: ENSMUSG00000026748
AA Change: R360G

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,870,251 D409G probably benign Het
Akap10 A G 11: 61,893,349 probably benign Het
Akap6 G T 12: 52,938,373 S863I probably damaging Het
Ap1s3 T C 1: 79,625,204 K29E possibly damaging Het
Atm T A 9: 53,457,470 I2341L possibly damaging Het
Atp12a A T 14: 56,386,927 D944V probably damaging Het
Baz2b A T 2: 59,913,911 S1417T possibly damaging Het
C130079G13Rik A G 3: 59,929,054 probably benign Het
Cacna1a T A 8: 84,549,725 M613K probably damaging Het
Ccdc191 A C 16: 43,943,967 probably null Het
Cd209d T A 8: 3,876,327 N96I probably damaging Het
Cdh15 G A 8: 122,862,024 R279Q probably damaging Het
Cdk4 T G 10: 127,064,276 V14G probably benign Het
Chrna10 C A 7: 102,112,069 M438I probably benign Het
Clec10a T C 11: 70,169,532 probably null Het
Cog3 A G 14: 75,754,290 V40A probably benign Het
Creb3l3 T C 10: 81,086,049 H315R probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,741,236 probably null Het
Cubn A G 2: 13,278,356 probably null Het
Cygb T C 11: 116,649,866 D98G probably damaging Het
Dmbx1 T C 4: 115,920,292 K120E probably damaging Het
Dnah3 T A 7: 119,952,697 I2800F possibly damaging Het
Dntt G T 19: 41,041,336 R245L possibly damaging Het
Dock1 T G 7: 135,145,484 V1508G probably damaging Het
Enpp4 A C 17: 44,101,845 I266R probably damaging Het
Fhl4 T C 10: 85,098,780 I46V possibly damaging Het
Fn1 G A 1: 71,597,736 Q1995* probably null Het
Foxo1 T A 3: 52,269,334 L178H probably damaging Het
Galnt18 C T 7: 111,554,616 R267H probably damaging Het
Gm1110 T C 9: 26,920,696 D53G probably benign Het
Gm12666 T C 4: 92,191,323 E87G probably benign Het
Gm5294 A G 5: 138,820,185 S36G probably null Het
Gm7104 A T 12: 88,285,472 noncoding transcript Het
H2-M11 C T 17: 36,548,150 T194I possibly damaging Het
Haus6 C A 4: 86,585,885 E501* probably null Het
Ifna5 T C 4: 88,835,910 V129A probably benign Het
Kdelr3 A G 15: 79,522,831 I38V probably benign Het
Lamb1 A G 12: 31,269,055 probably null Het
Mgat4c T A 10: 102,378,262 F35L probably benign Het
Mmab A T 5: 114,433,317 M166K probably benign Het
Mrpl2 A G 17: 46,647,501 T70A probably benign Het
Naa11 C T 5: 97,391,759 G180D probably benign Het
Npy6r T C 18: 44,275,821 V103A possibly damaging Het
Nup188 A T 2: 30,341,782 R1463W possibly damaging Het
Nusap1 T A 2: 119,643,830 S336R possibly damaging Het
Olfr876 T A 9: 37,804,213 F101I probably damaging Het
Pabpc4 T A 4: 123,297,951 L589Q probably damaging Het
Pcdh12 T A 18: 38,282,096 N659Y probably damaging Het
Perm1 T C 4: 156,217,118 S40P probably damaging Het
Phldb1 T C 9: 44,726,025 T114A probably damaging Het
Pirt C T 11: 66,926,159 L99F probably damaging Het
Rhpn2 G A 7: 35,381,532 probably null Het
Rpusd2 T A 2: 119,037,075 I268N probably damaging Het
Sds G T 5: 120,481,581 W185L probably damaging Het
Serpinb5 A G 1: 106,875,146 K137R probably benign Het
Sh3pxd2a A G 19: 47,424,569 V25A possibly damaging Het
Slc1a2 C T 2: 102,767,010 T454I probably damaging Het
Slc25a40 T C 5: 8,430,459 C70R probably damaging Het
Smoc1 G A 12: 81,167,590 E260K probably damaging Het
Sparcl1 A T 5: 104,085,088 F616I probably damaging Het
Ssc5d A T 7: 4,936,335 D590V probably damaging Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Trpm2 C T 10: 77,941,174 V430M probably damaging Het
Ttn T C 2: 76,744,328 D25407G probably damaging Het
Vmn2r68 T C 7: 85,234,595 I101V probably benign Het
Xrcc4 A T 13: 90,062,142 M61K probably damaging Het
Zfp648 A G 1: 154,204,949 T285A probably damaging Het
Other mutations in Plxdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Plxdc2 APN 2 16650139 missense probably damaging 1.00
IGL01700:Plxdc2 APN 2 16512115 missense probably benign 0.00
IGL02306:Plxdc2 APN 2 16660774 missense probably benign 0.06
IGL02555:Plxdc2 APN 2 16729341 missense probably benign 0.02
IGL02558:Plxdc2 APN 2 16669598 splice site probably benign
IGL03031:Plxdc2 APN 2 16650232 splice site probably null
IGL03114:Plxdc2 APN 2 16650124 missense probably damaging 1.00
R1024:Plxdc2 UTSW 2 16712106 missense probably benign 0.00
R1449:Plxdc2 UTSW 2 16660781 missense possibly damaging 0.82
R1840:Plxdc2 UTSW 2 16669856 missense probably benign 0.11
R2091:Plxdc2 UTSW 2 16713683 missense probably damaging 1.00
R2129:Plxdc2 UTSW 2 16512091 missense probably benign
R2192:Plxdc2 UTSW 2 16565336 missense probably damaging 0.99
R2287:Plxdc2 UTSW 2 16512190 missense probably benign 0.00
R3964:Plxdc2 UTSW 2 16660840 missense probably damaging 0.98
R4167:Plxdc2 UTSW 2 16565385 missense probably damaging 0.99
R4496:Plxdc2 UTSW 2 16512229 missense probably damaging 1.00
R4876:Plxdc2 UTSW 2 16703318 missense probably damaging 1.00
R4891:Plxdc2 UTSW 2 16712146 missense probably benign
R5238:Plxdc2 UTSW 2 16650215 missense probably damaging 1.00
R5389:Plxdc2 UTSW 2 16650187 missense probably damaging 1.00
R5984:Plxdc2 UTSW 2 16660855 missense probably benign 0.28
R6675:Plxdc2 UTSW 2 16712121 missense probably benign
R6751:Plxdc2 UTSW 2 16548141 missense probably benign 0.14
R7676:Plxdc2 UTSW 2 16712083 missense probably benign 0.01
R7757:Plxdc2 UTSW 2 16729376 missense probably benign 0.37
R7813:Plxdc2 UTSW 2 16660867 missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- ACAGGTGAAGATGATTCCAAGTATC -3'
(R):5'- GGAAGTTAATTTGCCAAACAGC -3'

Sequencing Primer
(F):5'- TCCAGTCCAATTTCTTTGATGTAAC -3'
(R):5'- AATTTGCCAAACAGCATTCTATTCCC -3'
Posted On2014-12-04