Incidental Mutation 'IGL01348:Pcgf2'
ID75152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcgf2
Ensembl Gene ENSMUSG00000018537
Gene Namepolycomb group ring finger 2
Synonymsmel-18, Rnf110, Zfp144
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01348
Quality Score
Status
Chromosome11
Chromosomal Location97688823-97700497 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97690240 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 259 (V259A)
Ref Sequence ENSEMBL: ENSMUSP00000137517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018681] [ENSMUST00000044730] [ENSMUST00000103148] [ENSMUST00000103149] [ENSMUST00000107583] [ENSMUST00000107584] [ENSMUST00000107585] [ENSMUST00000107586] [ENSMUST00000169807] [ENSMUST00000179765]
Predicted Effect probably benign
Transcript: ENSMUST00000018681
AA Change: V259A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000018681
Gene: ENSMUSG00000018537
AA Change: V259A

DomainStartEndE-ValueType
RING 18 56 4.99e-5 SMART
low complexity region 263 318 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000044730
SMART Domains Protein: ENSMUSP00000045445
Gene: ENSMUSG00000038437

DomainStartEndE-ValueType
PHD 7 55 5.92e-7 SMART
PHD 119 178 5e-5 SMART
low complexity region 190 224 N/A INTRINSIC
low complexity region 271 284 N/A INTRINSIC
low complexity region 290 330 N/A INTRINSIC
low complexity region 358 380 N/A INTRINSIC
low complexity region 398 412 N/A INTRINSIC
low complexity region 487 498 N/A INTRINSIC
low complexity region 502 516 N/A INTRINSIC
low complexity region 520 536 N/A INTRINSIC
low complexity region 559 573 N/A INTRINSIC
low complexity region 579 601 N/A INTRINSIC
low complexity region 649 666 N/A INTRINSIC
coiled coil region 703 744 N/A INTRINSIC
low complexity region 746 756 N/A INTRINSIC
low complexity region 773 782 N/A INTRINSIC
low complexity region 802 848 N/A INTRINSIC
low complexity region 860 901 N/A INTRINSIC
coiled coil region 915 942 N/A INTRINSIC
low complexity region 995 1018 N/A INTRINSIC
low complexity region 1026 1037 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103148
AA Change: V259A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099437
Gene: ENSMUSG00000018537
AA Change: V259A

DomainStartEndE-ValueType
RING 18 56 4.99e-5 SMART
low complexity region 263 318 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103149
AA Change: V75A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099438
Gene: ENSMUSG00000018537
AA Change: V75A

DomainStartEndE-ValueType
low complexity region 79 134 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107583
SMART Domains Protein: ENSMUSP00000103209
Gene: ENSMUSG00000078695

DomainStartEndE-ValueType
ZnF_CDGSH 54 88 3.39e-9 SMART
ZnF_CDGSH 92 129 5.55e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107584
SMART Domains Protein: ENSMUSP00000103210
Gene: ENSMUSG00000078695

DomainStartEndE-ValueType
ZnF_CDGSH 32 66 3.39e-9 SMART
ZnF_CDGSH 70 107 5.55e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107585
SMART Domains Protein: ENSMUSP00000103211
Gene: ENSMUSG00000078695

DomainStartEndE-ValueType
low complexity region 18 29 N/A INTRINSIC
ZnF_CDGSH 51 85 3.39e-9 SMART
ZnF_CDGSH 89 126 5.55e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107586
SMART Domains Protein: ENSMUSP00000103212
Gene: ENSMUSG00000038437

DomainStartEndE-ValueType
PHD 7 55 5.92e-7 SMART
PHD 119 178 5e-5 SMART
low complexity region 190 224 N/A INTRINSIC
low complexity region 271 284 N/A INTRINSIC
low complexity region 290 330 N/A INTRINSIC
low complexity region 336 356 N/A INTRINSIC
low complexity region 388 410 N/A INTRINSIC
low complexity region 428 442 N/A INTRINSIC
low complexity region 517 528 N/A INTRINSIC
low complexity region 532 546 N/A INTRINSIC
low complexity region 550 566 N/A INTRINSIC
low complexity region 589 603 N/A INTRINSIC
low complexity region 609 631 N/A INTRINSIC
low complexity region 679 696 N/A INTRINSIC
coiled coil region 733 774 N/A INTRINSIC
low complexity region 776 786 N/A INTRINSIC
low complexity region 803 812 N/A INTRINSIC
low complexity region 832 878 N/A INTRINSIC
low complexity region 890 931 N/A INTRINSIC
coiled coil region 945 972 N/A INTRINSIC
low complexity region 1025 1048 N/A INTRINSIC
low complexity region 1056 1067 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134003
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145623
Predicted Effect probably benign
Transcript: ENSMUST00000169807
AA Change: V259A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000126967
Gene: ENSMUSG00000018537
AA Change: V259A

DomainStartEndE-ValueType
RING 18 56 4.99e-5 SMART
Pfam:RAWUL 146 228 1.9e-26 PFAM
low complexity region 263 318 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179765
AA Change: V259A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000137517
Gene: ENSMUSG00000018537
AA Change: V259A

DomainStartEndE-ValueType
RING 18 56 4.99e-5 SMART
low complexity region 263 318 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit multiple abnormalities of the axial skeleton (including homeotic transformations), grow markedly slower, and die either perinatally or between 3-6 weeks of age depending on genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,517,213 E140G probably null Het
8030462N17Rik A G 18: 77,673,917 I233T possibly damaging Het
Adgrl3 A G 5: 81,726,723 T956A probably damaging Het
Aff4 G A 11: 53,402,500 S772N probably benign Het
Atad5 A G 11: 80,095,564 I492M probably benign Het
Atf4 T C 15: 80,256,527 probably benign Het
Atrip A G 9: 109,069,295 S219P probably damaging Het
Axl G A 7: 25,763,309 R656W probably damaging Het
B3gnt3 T A 8: 71,693,004 Q240L possibly damaging Het
Baz2b A G 2: 59,933,687 V915A possibly damaging Het
C330027C09Rik A G 16: 49,013,188 I551V probably damaging Het
Cacna1s T C 1: 136,075,152 V329A possibly damaging Het
Celf3 C A 3: 94,488,228 Q388K possibly damaging Het
Ciita T C 16: 10,510,727 S292P probably damaging Het
Clec18a G A 8: 111,071,613 A423V probably damaging Het
Clnk T C 5: 38,713,207 D336G probably damaging Het
Csmd1 T G 8: 15,910,596 H3273P probably damaging Het
Cyp3a11 A T 5: 145,869,007 V157E possibly damaging Het
Dcp1b T C 6: 119,183,718 I87T probably damaging Het
Ell3 A G 2: 121,441,796 S66P probably damaging Het
Ercc4 T C 16: 13,132,934 F631L probably damaging Het
Etl4 T A 2: 20,806,973 V1289D probably damaging Het
Gm16372 T C 12: 24,493,607 probably benign Het
Gm4553 C T 7: 142,165,172 C173Y unknown Het
Gm8989 T A 7: 106,329,835 H285L unknown Het
Gykl1 A T 18: 52,694,736 I339F possibly damaging Het
H60b A C 10: 22,286,179 N101T possibly damaging Het
Inpp4a C T 1: 37,388,905 T407I probably damaging Het
Itga11 A G 9: 62,744,579 N331S possibly damaging Het
Kbtbd6 T A 14: 79,453,343 C430S probably damaging Het
Mfsd4a T C 1: 132,067,826 S1G probably null Het
Mybpc2 C A 7: 44,515,928 M372I probably benign Het
Myh10 A T 11: 68,811,803 T1768S probably benign Het
Myh8 A G 11: 67,297,780 K1063E probably damaging Het
Nat8f5 A T 6: 85,817,880 F33I probably damaging Het
Nbeal2 T G 9: 110,629,146 N2119T probably damaging Het
Nek11 C T 9: 105,392,913 G37S probably damaging Het
Npc1l1 T C 11: 6,227,974 N479D probably damaging Het
Nup160 A G 2: 90,700,428 T477A probably benign Het
Olfr121 A T 17: 37,752,286 H144L probably benign Het
Olfr186 T A 16: 59,027,794 T38S probably damaging Het
Pmm1 A G 15: 81,952,018 V131A probably damaging Het
Polr3a A T 14: 24,461,763 D908E probably damaging Het
Psg29 A C 7: 17,210,673 R369S probably benign Het
Ptprq T A 10: 107,711,904 D211V probably damaging Het
Rdh9 A G 10: 127,776,792 N103S probably benign Het
Riok3 T C 18: 12,152,963 probably benign Het
Serpinb1b A T 13: 33,091,415 Q174H probably benign Het
Sgip1 G T 4: 102,915,156 probably null Het
Sgpp1 A T 12: 75,734,993 Y191N probably damaging Het
Slc12a1 A G 2: 125,194,131 N641S probably damaging Het
Slc5a4b T C 10: 76,070,588 N399S probably damaging Het
Snx16 C T 3: 10,419,159 A335T probably damaging Het
Sos2 C T 12: 69,618,092 R355H probably damaging Het
Szt2 A G 4: 118,393,624 probably benign Het
Tbcd T A 11: 121,497,076 D344E probably benign Het
Tek C A 4: 94,859,658 Q988K probably damaging Het
Tgm6 A G 2: 130,137,379 D143G probably damaging Het
Tpx2 A G 2: 152,893,591 K713R probably damaging Het
Trappc9 T A 15: 72,937,009 E556V possibly damaging Het
Trpm6 A T 19: 18,877,651 K1891N probably damaging Het
Trpv1 G A 11: 73,238,252 probably null Het
Usp37 T C 1: 74,461,702 S567G probably damaging Het
Zfp773 A T 7: 7,135,315 V107D possibly damaging Het
Other mutations in Pcgf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01877:Pcgf2 APN 11 97692533 missense probably damaging 1.00
IGL02473:Pcgf2 APN 11 97691921 splice site probably benign
R0243:Pcgf2 UTSW 11 97692418 splice site probably null
R0522:Pcgf2 UTSW 11 97692047 missense probably benign 0.31
R0712:Pcgf2 UTSW 11 97691004 missense probably damaging 1.00
R0781:Pcgf2 UTSW 11 97691850 splice site probably benign
R1110:Pcgf2 UTSW 11 97691850 splice site probably benign
R4295:Pcgf2 UTSW 11 97693456 nonsense probably null
R4959:Pcgf2 UTSW 11 97691689 missense possibly damaging 0.85
R5569:Pcgf2 UTSW 11 97692367 critical splice donor site probably null
R5622:Pcgf2 UTSW 11 97690252 missense probably damaging 1.00
R5779:Pcgf2 UTSW 11 97690291 missense probably damaging 1.00
R6001:Pcgf2 UTSW 11 97692780 missense possibly damaging 0.91
R6090:Pcgf2 UTSW 11 97690991 missense possibly damaging 0.71
R6360:Pcgf2 UTSW 11 97692409 splice site probably null
R8228:Pcgf2 UTSW 11 97692039 missense probably benign 0.00
R8309:Pcgf2 UTSW 11 97691743 missense probably benign 0.09
Z1176:Pcgf2 UTSW 11 97690021 missense probably damaging 1.00
Posted On2013-10-07