Incidental Mutation 'IGL01688:Prl6a1'
ID104035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prl6a1
Ensembl Gene ENSMUSG00000069259
Gene Nameprolactin family 6, subfamily a, member 1
SynonymsPLP-B, Prlpb
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL01688
Quality Score
Status
Chromosome13
Chromosomal Location27312627-27319252 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 27317986 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 117 (V117E)
Ref Sequence ENSEMBL: ENSMUSP00000089268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091679] [ENSMUST00000091680]
Predicted Effect probably damaging
Transcript: ENSMUST00000091679
AA Change: V117E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000089268
Gene: ENSMUSG00000069259
AA Change: V117E

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:Hormone_1 21 235 8e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091680
AA Change: V112E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089269
Gene: ENSMUSG00000069259
AA Change: V112E

DomainStartEndE-ValueType
Pfam:Hormone_1 16 230 1.1e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119758
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,165,123 L59P probably damaging Het
Ccin A T 4: 43,984,985 E464V possibly damaging Het
Cfap58 A G 19: 47,974,567 D472G probably benign Het
Col28a1 C T 6: 7,998,517 E1131K probably damaging Het
Cpne2 A G 8: 94,554,753 T196A possibly damaging Het
Cul4a A T 8: 13,146,571 R742* probably null Het
Cyp21a1 T A 17: 34,802,220 I370F probably damaging Het
Ddx51 T C 5: 110,655,647 F332L probably benign Het
Gm8232 A G 14: 44,433,722 D29G unknown Het
Got1 A G 19: 43,524,336 probably null Het
Gpat4 A G 8: 23,181,845 I58T probably benign Het
Hdac3 T A 18: 37,954,879 D12V possibly damaging Het
Helb T C 10: 120,108,980 H217R probably damaging Het
Hpf1 A T 8: 60,896,796 I153L probably benign Het
Lgsn G A 1: 31,204,405 D523N probably damaging Het
Lrrc63 A G 14: 75,084,982 S561P possibly damaging Het
Myh6 G A 14: 54,963,960 T94I possibly damaging Het
Mzt2 T C 16: 15,862,929 probably benign Het
Ndufb5 T A 3: 32,746,464 L62* probably null Het
Nek1 A T 8: 61,105,597 R970* probably null Het
Nepro T C 16: 44,736,006 L509P probably damaging Het
Pank1 T A 19: 34,840,852 I96F probably damaging Het
Parp11 C A 6: 127,471,606 T62K probably benign Het
Pla2g2e T A 4: 138,879,470 probably benign Het
Plekha5 T A 6: 140,569,389 Y207N probably damaging Het
Pomt2 T A 12: 87,147,520 I37F probably benign Het
Prmt3 T A 7: 49,848,732 probably null Het
Rcor3 T A 1: 192,123,600 E20V probably damaging Het
Rere A G 4: 150,618,436 D1449G probably damaging Het
Ric1 T C 19: 29,577,614 V376A probably benign Het
Rims1 G A 1: 22,397,540 T873I probably benign Het
Rras2 T C 7: 114,060,397 D44G probably damaging Het
Sbk2 C T 7: 4,957,717 probably benign Het
Slit1 A G 19: 41,729,106 I73T probably damaging Het
Spice1 T A 16: 44,384,710 M793K probably benign Het
Suco T C 1: 161,863,911 probably null Het
Tarbp1 A T 8: 126,447,551 W839R probably damaging Het
Trpc4 T A 3: 54,266,074 probably benign Het
Tubgcp5 T C 7: 55,815,018 V549A possibly damaging Het
Ubap2 T A 4: 41,226,308 T182S probably benign Het
Wrn A C 8: 33,310,702 probably benign Het
Zc3h15 A G 2: 83,662,192 Y337C probably damaging Het
Zfp292 T A 4: 34,807,855 I1730F possibly damaging Het
Zfp609 A G 9: 65,704,025 V552A probably benign Het
Other mutations in Prl6a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Prl6a1 APN 13 27316364 missense possibly damaging 0.72
IGL01922:Prl6a1 APN 13 27315360 missense possibly damaging 0.57
IGL02059:Prl6a1 APN 13 27315365 missense probably benign 0.02
IGL03170:Prl6a1 APN 13 27315423 missense possibly damaging 0.95
R0027:Prl6a1 UTSW 13 27318028 missense probably damaging 1.00
R0027:Prl6a1 UTSW 13 27318028 missense probably damaging 1.00
R0049:Prl6a1 UTSW 13 27317997 missense probably damaging 0.99
R0606:Prl6a1 UTSW 13 27314194 intron probably benign
R0944:Prl6a1 UTSW 13 27318166 splice site probably benign
R1518:Prl6a1 UTSW 13 27318927 missense possibly damaging 0.72
R1518:Prl6a1 UTSW 13 27318928 missense probably null 0.19
R1566:Prl6a1 UTSW 13 27315427 missense possibly damaging 0.84
R1621:Prl6a1 UTSW 13 27318010 missense probably benign 0.01
R2011:Prl6a1 UTSW 13 27315369 missense probably benign 0.00
R2058:Prl6a1 UTSW 13 27319098 missense probably benign 0.05
R2937:Prl6a1 UTSW 13 27315320 missense probably damaging 0.98
R3079:Prl6a1 UTSW 13 27319000 missense possibly damaging 0.71
R4685:Prl6a1 UTSW 13 27316324 missense probably benign 0.00
R4856:Prl6a1 UTSW 13 27319000 missense probably damaging 0.98
R4886:Prl6a1 UTSW 13 27319000 missense probably damaging 0.98
R5495:Prl6a1 UTSW 13 27312671 missense possibly damaging 0.95
R5923:Prl6a1 UTSW 13 27316363 missense probably benign 0.08
R6772:Prl6a1 UTSW 13 27319048 missense probably damaging 1.00
Posted On2014-01-21