Incidental Mutation 'IGL01325:Pygo2'
ID74247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pygo2
Ensembl Gene ENSMUSG00000047824
Gene Namepygopus 2
Synonyms1190004M21Rik, mpygo2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01325
Quality Score
Status
Chromosome3
Chromosomal Location89430214-89435128 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 89432446 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038942] [ENSMUST00000039110] [ENSMUST00000060061] [ENSMUST00000094378] [ENSMUST00000107413] [ENSMUST00000107417] [ENSMUST00000130858] [ENSMUST00000145753] [ENSMUST00000146630] [ENSMUST00000191485]
Predicted Effect probably benign
Transcript: ENSMUST00000038942
SMART Domains Protein: ENSMUSP00000040429
Gene: ENSMUSG00000042613

DomainStartEndE-ValueType
low complexity region 142 152 N/A INTRINSIC
low complexity region 162 177 N/A INTRINSIC
transmembrane domain 187 209 N/A INTRINSIC
coiled coil region 270 350 N/A INTRINSIC
coiled coil region 379 405 N/A INTRINSIC
low complexity region 672 691 N/A INTRINSIC
low complexity region 692 703 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000039110
SMART Domains Protein: ENSMUSP00000035361
Gene: ENSMUSG00000042626

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
PTB 47 211 2.15e-31 SMART
SH2 372 451 1.71e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060061
SMART Domains Protein: ENSMUSP00000053672
Gene: ENSMUSG00000047824

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
Blast:SH2 52 78 1e-9 BLAST
low complexity region 115 163 N/A INTRINSIC
low complexity region 177 193 N/A INTRINSIC
low complexity region 200 214 N/A INTRINSIC
low complexity region 242 261 N/A INTRINSIC
low complexity region 288 302 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
PHD 328 382 3.3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000094378
SMART Domains Protein: ENSMUSP00000091940
Gene: ENSMUSG00000042626

DomainStartEndE-ValueType
low complexity region 16 55 N/A INTRINSIC
low complexity region 85 98 N/A INTRINSIC
low complexity region 116 127 N/A INTRINSIC
PTB 157 321 2.15e-31 SMART
SH2 482 561 1.71e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107413
SMART Domains Protein: ENSMUSP00000103036
Gene: ENSMUSG00000047824

DomainStartEndE-ValueType
Blast:SH2 15 41 1e-9 BLAST
low complexity region 78 126 N/A INTRINSIC
low complexity region 140 156 N/A INTRINSIC
low complexity region 163 177 N/A INTRINSIC
low complexity region 205 224 N/A INTRINSIC
low complexity region 251 265 N/A INTRINSIC
low complexity region 272 287 N/A INTRINSIC
PHD 291 345 3.3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107417
SMART Domains Protein: ENSMUSP00000103040
Gene: ENSMUSG00000042626

DomainStartEndE-ValueType
PTB 2 166 2.15e-31 SMART
SH2 327 406 1.71e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125830
Predicted Effect probably benign
Transcript: ENSMUST00000130858
SMART Domains Protein: ENSMUSP00000118496
Gene: ENSMUSG00000042613

DomainStartEndE-ValueType
low complexity region 149 159 N/A INTRINSIC
low complexity region 169 184 N/A INTRINSIC
transmembrane domain 194 216 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141340
Predicted Effect probably benign
Transcript: ENSMUST00000145753
SMART Domains Protein: ENSMUSP00000121658
Gene: ENSMUSG00000042613

DomainStartEndE-ValueType
low complexity region 142 152 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146037
Predicted Effect probably benign
Transcript: ENSMUST00000146630
Predicted Effect probably benign
Transcript: ENSMUST00000191485
SMART Domains Protein: ENSMUSP00000140336
Gene: ENSMUSG00000042626

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
PTB 47 211 2.15e-31 SMART
SH2 372 451 1.71e-26 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, have small or absent lens, abnormal optic cup morphology, and impaired mammary gland epithelium proliferation. Mice homozygous for a knock-in allele exhibit normal development and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 60,853,533 T127A probably damaging Het
Acrv1 T A 9: 36,698,514 M227K probably benign Het
Adam22 T C 5: 8,127,333 N592S probably benign Het
Adamts15 T A 9: 30,921,688 I184F possibly damaging Het
Adcy1 T C 11: 7,064,102 V168A possibly damaging Het
Arl6ip5 T C 6: 97,232,540 F179L probably benign Het
Asxl2 G T 12: 3,427,172 R6L probably damaging Het
Btaf1 T A 19: 37,004,649 probably benign Het
Ccdc136 T C 6: 29,412,950 F445L probably benign Het
Cpne3 T C 4: 19,535,229 S268G probably benign Het
Crtc3 C T 7: 80,677,368 R70Q probably damaging Het
Fam169a C A 13: 97,122,699 A421E probably benign Het
Fhod1 A T 8: 105,331,649 M825K probably benign Het
Gjb2 T C 14: 57,100,221 T177A probably benign Het
Gm6576 A G 15: 27,025,884 noncoding transcript Het
Herpud2 A G 9: 25,113,911 V175A probably benign Het
Hmgxb3 T C 18: 61,134,006 D1052G probably damaging Het
Itpr1 T A 6: 108,381,208 F578L probably benign Het
Kdm7a T G 6: 39,158,309 probably benign Het
Krt76 A T 15: 101,884,888 S572T unknown Het
Lrrcc1 T C 3: 14,536,541 probably null Het
March9 A C 10: 127,057,590 V183G probably damaging Het
Mkl2 T C 16: 13,401,224 V578A probably damaging Het
Ndufaf6 A T 4: 11,070,251 D123E probably benign Het
Nhlh2 T G 3: 102,013,026 Y125D probably damaging Het
Nol4l A G 2: 153,436,351 probably benign Het
Npas1 C T 7: 16,463,322 G206D probably benign Het
Olfr651 T C 7: 104,553,689 F257L probably damaging Het
Olfr994 C A 2: 85,430,295 C178F possibly damaging Het
Pcdhb4 T A 18: 37,309,623 V662E probably damaging Het
Plxna3 G A X: 74,335,794 G758S probably damaging Het
Prdm15 T A 16: 97,806,517 N709Y probably damaging Het
Ranbp2 T A 10: 58,476,298 S947T probably damaging Het
Rasgrp1 T A 2: 117,298,529 H203L probably damaging Het
Rbbp6 G A 7: 122,988,618 G270R probably damaging Het
Rcl1 A G 19: 29,121,262 probably null Het
Rpl23a-ps1 T C 1: 45,981,633 noncoding transcript Het
Serpinb7 T G 1: 107,435,380 H91Q probably damaging Het
Shd C T 17: 55,972,839 P111S possibly damaging Het
Slc35e1 G T 8: 72,483,758 probably benign Het
Srgap3 C T 6: 112,775,686 R279H probably damaging Het
Sstr4 G A 2: 148,395,552 E28K probably benign Het
Stip1 T C 19: 7,021,096 probably benign Het
Syne2 A G 12: 75,926,514 E1097G probably benign Het
Tbcd T A 11: 121,540,993 V489E probably damaging Het
Tnks2 T A 19: 36,871,633 S516R probably benign Het
Trmt44 T A 5: 35,568,803 R343S possibly damaging Het
Trps1 A G 15: 50,846,814 S47P probably benign Het
Ubr3 A C 2: 69,917,097 K235Q possibly damaging Het
Uckl1 G A 2: 181,574,961 Q48* probably null Het
Vat1 T C 11: 101,465,715 D140G probably benign Het
Vmn2r80 A G 10: 79,194,247 T636A possibly damaging Het
Zfp423 A T 8: 87,781,611 probably null Het
Zfp667 C A 7: 6,290,546 T15N probably damaging Het
Other mutations in Pygo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0147:Pygo2 UTSW 3 89433303 missense probably damaging 1.00
R0330:Pygo2 UTSW 3 89433154 missense possibly damaging 0.72
R2046:Pygo2 UTSW 3 89433148 missense possibly damaging 0.72
R4093:Pygo2 UTSW 3 89433264 missense probably damaging 0.98
R5341:Pygo2 UTSW 3 89432760 missense probably damaging 0.98
R7172:Pygo2 UTSW 3 89432636 missense probably benign 0.23
R7386:Pygo2 UTSW 3 89432821 missense probably benign 0.18
Posted On2013-10-07