Incidental Mutation 'IGL03383:Preb'
ID420772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Preb
Ensembl Gene ENSMUSG00000045302
Gene Nameprolactin regulatory element binding
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock #IGL03383
Quality Score
Status
Chromosome5
Chromosomal Location30950853-30960361 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 30958321 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 222 (W222R)
Ref Sequence ENSEMBL: ENSMUSP00000144263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074840] [ENSMUST00000202567]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000006814
SMART Domains Protein: ENSMUSP00000143649
Gene: ENSMUSG00000006638

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Hydrolase_4 127 371 1.3e-9 PFAM
Pfam:Abhydrolase_1 131 373 1.4e-12 PFAM
Pfam:Abhydrolase_5 132 367 2.8e-8 PFAM
Pfam:Abhydrolase_6 133 377 1.1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000074840
AA Change: W222R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074387
Gene: ENSMUSG00000045302
AA Change: W222R

DomainStartEndE-ValueType
low complexity region 24 41 N/A INTRINSIC
low complexity region 99 114 N/A INTRINSIC
WD40 143 182 4.48e-2 SMART
WD40 185 223 4.88e-3 SMART
WD40 289 328 4.42e1 SMART
Blast:WD40 332 382 5e-26 BLAST
transmembrane domain 391 413 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200836
Predicted Effect unknown
Transcript: ENSMUST00000201002
AA Change: W48R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201730
Predicted Effect probably benign
Transcript: ENSMUST00000201821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201967
Predicted Effect probably damaging
Transcript: ENSMUST00000202567
AA Change: W222R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144263
Gene: ENSMUSG00000045302
AA Change: W222R

DomainStartEndE-ValueType
low complexity region 24 41 N/A INTRINSIC
low complexity region 99 114 N/A INTRINSIC
WD40 143 182 4.48e-2 SMART
WD40 185 223 4.88e-3 SMART
WD40 289 328 4.42e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202590
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 protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 C T 4: 111,657,423 probably benign Het
Cit T C 5: 115,873,845 probably benign Het
Clmp A G 9: 40,774,441 N211S probably damaging Het
Cnot2 A G 10: 116,494,817 probably benign Het
Cntn6 A G 6: 104,776,457 probably benign Het
Dnajb9 C T 12: 44,208,313 probably benign Het
Ece2 T A 16: 20,633,097 N411K possibly damaging Het
Fam208a A G 14: 27,441,961 I235V possibly damaging Het
Fshr A G 17: 89,046,699 I77T possibly damaging Het
Fshr A G 17: 88,985,693 M519T probably damaging Het
Gm10654 G A 8: 70,932,131 noncoding transcript Het
Gm5093 A G 17: 46,439,591 I170T probably benign Het
Meis3 A G 7: 16,183,819 K299R probably damaging Het
Nxf1 T C 19: 8,763,697 F15L probably damaging Het
Nxpe3 T C 16: 55,849,713 D343G probably benign Het
Olfr1246 A T 2: 89,590,312 Y268N probably benign Het
Polr3k A G 2: 181,866,027 T65A probably damaging Het
Psmd11 T C 11: 80,469,845 I56T probably damaging Het
Rtkn2 A G 10: 68,017,837 T232A probably damaging Het
Scaf11 T C 15: 96,420,183 probably null Het
Slc4a10 A T 2: 62,267,436 K493M probably damaging Het
Stard10 A G 7: 101,342,570 K112E probably damaging Het
Sugp1 A T 8: 70,069,567 probably benign Het
Tmem156 T C 5: 65,075,697 E139G probably damaging Het
Tubd1 C T 11: 86,549,008 probably benign Het
Uap1 G A 1: 170,158,891 T174M probably damaging Het
Vmn2r13 T C 5: 109,156,532 T678A probably damaging Het
Vmn2r84 A T 10: 130,386,687 C555S probably damaging Het
Vps13d T C 4: 145,168,319 probably null Het
Vps8 T C 16: 21,435,823 probably null Het
Wee1 A G 7: 110,139,692 N590S probably damaging Het
Zfp112 C A 7: 24,125,678 S357Y probably damaging Het
Zfp423 T A 8: 87,859,452 K48* probably null Het
Zscan4d A G 7: 11,162,765 V226A probably benign Het
Other mutations in Preb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Preb APN 5 30955964 missense probably damaging 1.00
IGL01344:Preb APN 5 30956044 missense probably damaging 0.99
R1520:Preb UTSW 5 30958524 missense probably benign 0.14
R1987:Preb UTSW 5 30958813 missense probably damaging 1.00
R2327:Preb UTSW 5 30958505 missense probably damaging 0.99
R5607:Preb UTSW 5 30959963 splice site probably benign
R5769:Preb UTSW 5 30958291 nonsense probably null
R5831:Preb UTSW 5 30958864 missense probably benign
R6271:Preb UTSW 5 30958051 missense probably damaging 0.99
R6539:Preb UTSW 5 30956076 missense probably benign 0.03
R7575:Preb UTSW 5 30958495 missense probably damaging 1.00
R7873:Preb UTSW 5 30958765 missense probably benign 0.05
R8417:Preb UTSW 5 30960117 start gained probably benign
R8515:Preb UTSW 5 30959378 missense probably damaging 1.00
X0065:Preb UTSW 5 30958936 missense probably benign 0.01
Posted On2016-08-02