Incidental Mutation 'R6271:Preb'
ID 507326
Institutional Source Beutler Lab
Gene Symbol Preb
Ensembl Gene ENSMUSG00000045302
Gene Name prolactin regulatory element binding
Synonyms
MMRRC Submission 044379-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 31109011-31117700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31115395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 255 (V255F)
Ref Sequence ENSEMBL: ENSMUSP00000144263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074840] [ENSMUST00000202567]
AlphaFold Q9WUQ2
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: V255F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074387
Gene: ENSMUSG00000045302
AA Change: V255F

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: V81F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201125
Predicted Effect probably damaging
Transcript: ENSMUST00000202567
AA Change: V255F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144263
Gene: ENSMUSG00000045302
AA Change: V255F

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: ENSMUST00000202445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202401
Predicted Effect probably benign
Transcript: ENSMUST00000201821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202904
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A probably benign Het
Other mutations in Preb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Preb APN 5 31,113,308 (GRCm39) missense probably damaging 1.00
IGL01344:Preb APN 5 31,113,388 (GRCm39) missense probably damaging 0.99
IGL03383:Preb APN 5 31,115,665 (GRCm39) missense probably damaging 1.00
R1520:Preb UTSW 5 31,115,868 (GRCm39) missense probably benign 0.14
R1987:Preb UTSW 5 31,116,157 (GRCm39) missense probably damaging 1.00
R2327:Preb UTSW 5 31,115,849 (GRCm39) missense probably damaging 0.99
R5607:Preb UTSW 5 31,117,307 (GRCm39) splice site probably benign
R5769:Preb UTSW 5 31,115,635 (GRCm39) nonsense probably null
R5831:Preb UTSW 5 31,116,208 (GRCm39) missense probably benign
R6539:Preb UTSW 5 31,113,420 (GRCm39) missense probably benign 0.03
R7575:Preb UTSW 5 31,115,839 (GRCm39) missense probably damaging 1.00
R7873:Preb UTSW 5 31,116,109 (GRCm39) missense probably benign 0.05
R8417:Preb UTSW 5 31,117,461 (GRCm39) start gained probably benign
R8515:Preb UTSW 5 31,116,722 (GRCm39) missense probably damaging 1.00
R8948:Preb UTSW 5 31,115,671 (GRCm39) missense probably damaging 0.96
R9037:Preb UTSW 5 31,116,590 (GRCm39) missense probably benign 0.00
R9062:Preb UTSW 5 31,116,196 (GRCm39) missense probably benign 0.00
R9332:Preb UTSW 5 31,113,673 (GRCm39) nonsense probably null
R9348:Preb UTSW 5 31,112,995 (GRCm39) missense probably benign 0.19
R9745:Preb UTSW 5 31,116,732 (GRCm39) missense probably benign
X0065:Preb UTSW 5 31,116,280 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTCACACCTGACACTGAGGC -3'
(R):5'- AGAGAATGGACCAGCCTCTTC -3'

Sequencing Primer
(F):5'- GCAGGAAATGACCTCATGGCC -3'
(R):5'- GAGAATGGACCAGCCTCTTCTAATAC -3'
Posted On 2018-03-15