Incidental Mutation 'IGL03257:Prl8a1'
ID414696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prl8a1
Ensembl Gene ENSMUSG00000019756
Gene Nameprolactin family 8, subfamily a, member 1
Synonyms3830403L08Rik, 1600017L04Rik, Plpcd, PLP-Cd, Prlpc4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL03257
Quality Score
Status
Chromosome13
Chromosomal Location27573922-27582171 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27575673 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 127 (I127T)
Ref Sequence ENSEMBL: ENSMUSP00000006664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006664] [ENSMUST00000095926]
Predicted Effect probably damaging
Transcript: ENSMUST00000006664
AA Change: I127T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006664
Gene: ENSMUSG00000019756
AA Change: I127T

DomainStartEndE-ValueType
Pfam:Hormone_1 16 240 7.2e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000095926
AA Change: I127T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093616
Gene: ENSMUSG00000019756
AA Change: I127T

DomainStartEndE-ValueType
Pfam:Hormone_1 16 193 1e-39 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C A 14: 118,615,211 V489L probably benign Het
Alpk2 C A 18: 65,349,874 E354D probably damaging Het
Ank1 A T 8: 23,122,898 K1060M probably damaging Het
Cand2 A G 6: 115,799,983 N1111D possibly damaging Het
Ccny A T 18: 9,386,747 S73T possibly damaging Het
Clps T C 17: 28,560,660 probably benign Het
Cnga1 C A 5: 72,610,862 W160C probably damaging Het
Col6a5 T C 9: 105,881,873 S2045G possibly damaging Het
Dennd4a T G 9: 64,871,874 N546K possibly damaging Het
Efcab5 A T 11: 77,188,770 M50K probably damaging Het
Fntb A G 12: 76,888,031 H228R probably damaging Het
Gm4787 C T 12: 81,378,052 C444Y probably damaging Het
Gpm6a A G 8: 55,037,472 Y61C probably damaging Het
Grm5 T A 7: 87,602,898 S119T possibly damaging Het
Igf1r T A 7: 68,214,940 I1162N probably damaging Het
Irx5 A G 8: 92,360,630 T397A probably benign Het
Kdm1b C T 13: 47,049,266 T59M probably damaging Het
Lrrc9 T A 12: 72,449,768 S57T probably benign Het
Nup210l A T 3: 90,180,148 probably null Het
Olfr1065 A T 2: 86,445,890 F31I probably damaging Het
Olfr472 T C 7: 107,902,756 I13T probably benign Het
Psme1 T C 14: 55,580,629 I142T probably damaging Het
Ptbp3 A T 4: 59,493,370 probably benign Het
Rnf20 T A 4: 49,645,687 N321K probably benign Het
Ttc23 T C 7: 67,711,378 S340P probably damaging Het
Txnrd1 A T 10: 82,885,271 K393I probably benign Het
Zfp365 A T 10: 67,889,038 F340Y possibly damaging Het
Zfp451 C A 1: 33,777,048 R607L possibly damaging Het
Zfp618 A G 4: 63,132,671 Y563C probably damaging Het
Other mutations in Prl8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02259:Prl8a1 APN 13 27582106 missense probably benign 0.23
IGL02369:Prl8a1 APN 13 27576941 missense possibly damaging 0.58
IGL02837:Prl8a1 UTSW 13 27575634 missense probably damaging 1.00
R0838:Prl8a1 UTSW 13 27574025 missense probably damaging 1.00
R1480:Prl8a1 UTSW 13 27574072 missense possibly damaging 0.84
R1973:Prl8a1 UTSW 13 27576934 missense probably benign 0.07
R2352:Prl8a1 UTSW 13 27575589 missense probably damaging 1.00
R2396:Prl8a1 UTSW 13 27574024 missense probably benign 0.00
R3732:Prl8a1 UTSW 13 27579733 missense probably damaging 0.98
R3874:Prl8a1 UTSW 13 27575458 missense possibly damaging 0.53
R4895:Prl8a1 UTSW 13 27575530 missense probably benign 0.20
R5135:Prl8a1 UTSW 13 27579819 splice site probably null
R5139:Prl8a1 UTSW 13 27574066 missense probably damaging 0.98
R5908:Prl8a1 UTSW 13 27574057 missense probably benign 0.00
R6232:Prl8a1 UTSW 13 27575574 missense possibly damaging 0.86
R6262:Prl8a1 UTSW 13 27574143 missense possibly damaging 0.95
R7203:Prl8a1 UTSW 13 27574189 missense probably damaging 0.99
R7243:Prl8a1 UTSW 13 27582103 missense probably damaging 1.00
R7372:Prl8a1 UTSW 13 27574106 missense probably damaging 0.97
R7485:Prl8a1 UTSW 13 27574085 missense probably damaging 1.00
Posted On2016-08-02