Incidental Mutation 'R1166:Prl8a2'
ID101040
Institutional Source Beutler Lab
Gene Symbol Prl8a2
Ensembl Gene ENSMUSG00000018259
Gene Nameprolactin family 8, subfamily a, member 2
SynonymsDPRP, Dtprp, D/tPRP, mdPRP
MMRRC Submission 039239-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.155) question?
Stock #R1166 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location27345673-27354216 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 27353952 bp
ZygosityHeterozygous
Amino Acid Change Serine to Isoleucine at position 204 (S204I)
Ref Sequence ENSEMBL: ENSMUSP00000018403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018403] [ENSMUST00000110363]
Predicted Effect possibly damaging
Transcript: ENSMUST00000018403
AA Change: S204I

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018403
Gene: ENSMUSG00000018259
AA Change: S204I

DomainStartEndE-ValueType
Pfam:Hormone_1 16 240 6.4e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110363
AA Change: S203I

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105992
Gene: ENSMUSG00000018259
AA Change: S203I

DomainStartEndE-ValueType
Pfam:Hormone_1 15 239 2.1e-46 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000223918
AA Change: S64I
Meta Mutation Damage Score 0.0684 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.0%
  • 20x: 86.3%
Validation Efficiency 96% (43/45)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit reduced pregnancy success when exposed to hypoxic conditions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,570,917 K286R probably benign Het
Arhgef10l T C 4: 140,575,270 probably benign Het
Ccdc175 T G 12: 72,105,932 K733T probably damaging Het
Cenpn T G 8: 116,926,207 I39R probably damaging Het
Cfap53 A T 18: 74,300,180 Y112F possibly damaging Het
Cngb1 C A 8: 95,260,181 C361F probably damaging Het
Ctf2 T C 7: 127,719,513 T105A probably benign Het
Dnah7b A T 1: 46,325,810 T3584S probably damaging Het
Ebf3 C T 7: 137,313,167 probably benign Het
Ep300 A G 15: 81,630,064 probably benign Het
Fbxo17 T A 7: 28,733,528 V158E probably damaging Het
Fbxw24 T C 9: 109,606,998 E322G probably benign Het
Gm5698 G T 1: 30,977,285 D228E probably damaging Het
Gm884 A G 11: 103,615,383 S1920P probably benign Het
Hfm1 A T 5: 106,911,411 D248E probably benign Het
Insm2 T C 12: 55,600,496 S342P probably benign Het
Krt36 G A 11: 100,102,828 R395C probably benign Het
Lsm14b T A 2: 180,031,541 probably benign Het
Map1a A G 2: 121,300,260 E519G probably damaging Het
Mfsd14a T C 3: 116,633,894 probably benign Het
Mfsd4b5 T C 10: 39,970,423 Y387C probably damaging Het
Mybpc2 T C 7: 44,505,025 N1063D possibly damaging Het
Nlrp10 T A 7: 108,925,010 H421L probably damaging Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Olfr1254 A G 2: 89,789,331 V7A possibly damaging Het
Pacrg A T 17: 10,403,339 Y235* probably null Het
Pde4dip T A 3: 97,713,196 D1629V possibly damaging Het
Sec24a A T 11: 51,733,467 M356K possibly damaging Het
Sh3tc2 A C 18: 61,991,176 S972R probably damaging Het
Shc2 C T 10: 79,621,112 V557M probably damaging Het
Slc2a9 A G 5: 38,382,041 probably null Het
Tcaf1 T C 6: 42,678,678 I455V probably benign Het
Umodl1 T G 17: 31,002,798 probably benign Het
Wdr27 T C 17: 14,892,471 T658A probably damaging Het
Zfp318 T C 17: 46,409,692 Y1119H possibly damaging Het
Zfp939 C A 7: 39,473,339 noncoding transcript Het
Other mutations in Prl8a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02654:Prl8a2 APN 13 27352797 missense possibly damaging 0.56
IGL03268:Prl8a2 APN 13 27353955 missense probably benign 0.09
R0557:Prl8a2 UTSW 13 27352892 nonsense probably null
R0574:Prl8a2 UTSW 13 27348900 missense probably damaging 1.00
R1401:Prl8a2 UTSW 13 27353996 missense possibly damaging 0.55
R1875:Prl8a2 UTSW 13 27351054 missense probably benign 0.02
R2420:Prl8a2 UTSW 13 27348913 missense possibly damaging 0.46
R4152:Prl8a2 UTSW 13 27351002 missense possibly damaging 0.86
R5285:Prl8a2 UTSW 13 27350133 unclassified probably null
R6452:Prl8a2 UTSW 13 27352797 missense probably benign 0.08
R6906:Prl8a2 UTSW 13 27348917 missense probably benign 0.03
Predicted Primers
Posted On2014-01-15