Incidental Mutation 'IGL02332:Pdcl2'
ID288717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdcl2
Ensembl Gene ENSMUSG00000029235
Gene Namephosducin-like 2
Synonyms1700010B22Rik, 1700016K07Rik, Mgcphlp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL02332
Quality Score
Status
Chromosome5
Chromosomal Location76312115-76331156 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 76319135 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 70 (Y70*)
Ref Sequence ENSEMBL: ENSMUSP00000113699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031145] [ENSMUST00000122213]
Predicted Effect probably null
Transcript: ENSMUST00000031145
AA Change: Y118*
SMART Domains Protein: ENSMUSP00000031145
Gene: ENSMUSG00000029235
AA Change: Y118*

DomainStartEndE-ValueType
Pfam:Phosducin 8 208 3.8e-20 PFAM
low complexity region 229 236 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000122213
AA Change: Y70*
SMART Domains Protein: ENSMUSP00000113699
Gene: ENSMUSG00000029235
AA Change: Y70*

DomainStartEndE-ValueType
Pfam:Phosducin 1 178 2.3e-19 PFAM
low complexity region 181 188 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.] This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B24Rik A G 3: 48,608,888 noncoding transcript Het
Abca13 A T 11: 9,291,482 Y1115F probably damaging Het
Adam29 T A 8: 55,871,740 I560F probably damaging Het
Bivm T C 1: 44,128,720 probably benign Het
Brinp1 C A 4: 68,904,884 R24L probably benign Het
Cnga1 A G 5: 72,604,486 Y562H probably damaging Het
Cr2 C A 1: 195,160,322 Q256H probably benign Het
Dhcr7 A T 7: 143,843,128 N119I probably damaging Het
Dio1 A T 4: 107,293,781 Y169N probably damaging Het
Dmbt1 C T 7: 131,066,613 probably benign Het
Eogt T G 6: 97,125,605 H249P probably damaging Het
Ermard A C 17: 14,990,545 probably null Het
Exoc4 T C 6: 33,249,240 probably null Het
Fxr2 G T 11: 69,649,838 probably null Het
Glyr1 G T 16: 5,018,953 T443N probably damaging Het
Gm14137 T G 2: 119,175,326 L122R probably damaging Het
Gm4845 C A 1: 141,256,597 noncoding transcript Het
Gm8258 A G 5: 104,775,902 noncoding transcript Het
Gmps G A 3: 63,990,569 R258H probably benign Het
Itga6 T G 2: 71,838,373 L552R possibly damaging Het
Itgam T A 7: 128,085,674 probably null Het
Itgb5 G T 16: 33,920,130 E224* probably null Het
Itih4 C A 14: 30,887,860 A49D probably damaging Het
Itpr2 A T 6: 146,426,542 N64K probably damaging Het
Moap1 T C 12: 102,742,807 Y161C probably benign Het
Mst1r G T 9: 107,907,826 G228* probably null Het
Myo1g T C 11: 6,520,766 D30G possibly damaging Het
Ndn T A 7: 62,348,825 C140S probably damaging Het
Nek5 G T 8: 22,095,261 Q367K probably benign Het
Nrd1 A T 4: 109,000,988 R52S probably damaging Het
Nup133 A T 8: 123,907,832 L1007Q probably damaging Het
Olfr1105 T C 2: 87,034,212 D3G probably benign Het
Olfr633 T C 7: 103,946,920 M118T probably damaging Het
Olfr74 A T 2: 87,974,065 L200Q probably damaging Het
P2rx2 T C 5: 110,341,805 S116G probably benign Het
Pcdhb13 G A 18: 37,443,582 V338M probably benign Het
Ppm1e T C 11: 87,231,742 H463R probably benign Het
Ppm1f T A 16: 16,914,087 C134S possibly damaging Het
Ppp2r3a A G 9: 101,180,403 F180L possibly damaging Het
Pxn A G 5: 115,544,926 S96G probably benign Het
Rasa4 G T 5: 136,095,599 Q167H probably benign Het
Rfx8 T C 1: 39,718,480 I43V possibly damaging Het
Sez6 C T 11: 77,954,742 probably benign Het
Slc39a6 A T 18: 24,589,823 D473E probably benign Het
Spocd1 A G 4: 129,949,092 D68G probably damaging Het
Syt13 T C 2: 92,940,804 F79L probably benign Het
Tas2r103 A T 6: 133,036,512 M197K probably benign Het
Tbrg4 A G 11: 6,618,492 V429A probably damaging Het
Tuft1 A C 3: 94,615,768 probably null Het
Uqcrc1 A G 9: 108,947,869 T80A probably damaging Het
Vps18 A G 2: 119,293,810 N406S probably benign Het
Xrn2 T A 2: 147,026,590 W188R probably damaging Het
Zzef1 T G 11: 72,916,509 S2738A probably benign Het
Other mutations in Pdcl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Pdcl2 APN 5 76325112 missense probably damaging 1.00
IGL00796:Pdcl2 APN 5 76319175 missense probably damaging 0.99
IGL02310:Pdcl2 APN 5 76317881 missense probably damaging 1.00
IGL02562:Pdcl2 APN 5 76319191 missense probably damaging 1.00
R0288:Pdcl2 UTSW 5 76312497 missense possibly damaging 0.80
R0606:Pdcl2 UTSW 5 76312481 missense probably benign
R2070:Pdcl2 UTSW 5 76324991 critical splice donor site probably null
R6384:Pdcl2 UTSW 5 76331008 splice site probably null
R7055:Pdcl2 UTSW 5 76317924 missense probably benign 0.00
R7414:Pdcl2 UTSW 5 76312512 missense possibly damaging 0.74
R7638:Pdcl2 UTSW 5 76317828 missense probably damaging 1.00
R7688:Pdcl2 UTSW 5 76317923 missense probably benign 0.44
R7718:Pdcl2 UTSW 5 76317999 missense probably damaging 1.00
R7766:Pdcl2 UTSW 5 76317896 missense probably benign 0.00
Z1177:Pdcl2 UTSW 5 76317932 missense possibly damaging 0.87
Posted On2015-04-16