Incidental Mutation 'IGL00826:Prl7a1'
ID13173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prl7a1
Ensembl Gene ENSMUSG00000006488
Gene Nameprolactin family 7, subfamily a, member 1
SynonymsPLP-G, Prlpg, Prlpe, PLP-E
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL00826
Quality Score
Status
Chromosome13
Chromosomal Location27633366-27642493 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27640795 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 19 (V19A)
Ref Sequence ENSEMBL: ENSMUSP00000093614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006659] [ENSMUST00000095924] [ENSMUST00000224852]
Predicted Effect possibly damaging
Transcript: ENSMUST00000006659
AA Change: V18A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006659
Gene: ENSMUSG00000006488
AA Change: V18A

DomainStartEndE-ValueType
Pfam:Hormone_1 16 82 9.9e-8 PFAM
Pfam:Hormone_1 82 256 2.6e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000095924
AA Change: V19A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093614
Gene: ENSMUSG00000006488
AA Change: V19A

DomainStartEndE-ValueType
Pfam:Hormone_1 17 257 7.8e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224852
AA Change: V18A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars T G 8: 111,040,300 S105A probably damaging Het
Adamtsl1 C T 4: 86,156,804 P136L probably damaging Het
Akap13 C A 7: 75,677,447 N376K probably damaging Het
Casp2 T A 6: 42,269,285 Y192* probably null Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cyp2c68 A G 19: 39,739,505 Y68H possibly damaging Het
Cyp2j9 A T 4: 96,585,930 I91K possibly damaging Het
Diablo T C 5: 123,512,688 I179M probably benign Het
Dnah9 C T 11: 65,989,942 V2610M probably damaging Het
Dsc2 C T 18: 20,035,315 A696T probably damaging Het
Eaf2 A T 16: 36,800,676 M218K probably benign Het
Emc9 G T 14: 55,584,920 L64I possibly damaging Het
Epb41l2 T C 10: 25,441,722 S46P probably benign Het
Galnt7 A T 8: 57,540,071 Y405* probably null Het
Gnl3 A G 14: 31,012,796 probably benign Het
Map1a A G 2: 121,302,276 Q1191R possibly damaging Het
Map2k2 G A 10: 81,118,218 V173I probably benign Het
Nbeal2 A G 9: 110,626,903 V2408A probably benign Het
Npepps T C 11: 97,236,058 probably benign Het
Osbpl8 A T 10: 111,272,320 probably benign Het
Phf12 G T 11: 78,015,506 R282L probably damaging Het
Phf21a T G 2: 92,344,536 probably benign Het
Plin2 T C 4: 86,664,446 N98D possibly damaging Het
Slfn10-ps T C 11: 83,035,259 noncoding transcript Het
Spag11b T G 8: 19,141,407 V33G possibly damaging Het
Trappc13 A T 13: 104,144,508 S349T probably benign Het
Trim34a T C 7: 104,260,933 probably null Het
Other mutations in Prl7a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02862:Prl7a1 APN 13 27639889 missense probably benign 0.05
R0841:Prl7a1 UTSW 13 27642410 splice site probably benign
R1005:Prl7a1 UTSW 13 27642446 missense possibly damaging 0.75
R1641:Prl7a1 UTSW 13 27633629 missense probably damaging 1.00
R1991:Prl7a1 UTSW 13 27633672 missense probably damaging 0.96
R2233:Prl7a1 UTSW 13 27642419 critical splice donor site probably null
R4061:Prl7a1 UTSW 13 27635849 missense possibly damaging 0.83
R4239:Prl7a1 UTSW 13 27637566 missense possibly damaging 0.92
R4817:Prl7a1 UTSW 13 27635764 missense probably damaging 0.99
R4976:Prl7a1 UTSW 13 27633581 missense possibly damaging 0.52
R4992:Prl7a1 UTSW 13 27635686 splice site probably null
R5119:Prl7a1 UTSW 13 27633581 missense possibly damaging 0.52
R5857:Prl7a1 UTSW 13 27640701 missense probably damaging 0.99
R6060:Prl7a1 UTSW 13 27637588 missense probably damaging 1.00
R6164:Prl7a1 UTSW 13 27637643 missense probably benign 0.00
R6581:Prl7a1 UTSW 13 27633629 missense probably damaging 1.00
R7126:Prl7a1 UTSW 13 27642419 critical splice donor site probably null
R7892:Prl7a1 UTSW 13 27633678 missense not run
R7908:Prl7a1 UTSW 13 27642450 start codon destroyed probably null 0.91
R8376:Prl7a1 UTSW 13 27637655 missense probably benign 0.00
Posted On2012-12-06