Incidental Mutation 'IGL01735:Prl7d1'
ID105670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prl7d1
Ensembl Gene ENSMUSG00000021348
Gene Nameprolactin family 7, subfamily d, member 1
SynonymsPlfr, PRP, PLF-RP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL01735
Quality Score
Status
Chromosome13
Chromosomal Location27706337-27716736 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27714389 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 47 (F47L)
Ref Sequence ENSEMBL: ENSMUSP00000153033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021776] [ENSMUST00000224026]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021776
AA Change: F46L

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021776
Gene: ENSMUSG00000021348
AA Change: F46L

DomainStartEndE-ValueType
Pfam:Hormone_1 17 240 1.1e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145879
Predicted Effect possibly damaging
Transcript: ENSMUST00000224026
AA Change: F47L

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A T 12: 4,201,213 M612L probably benign Het
Adhfe1 C A 1: 9,548,148 T19K possibly damaging Het
Atxn1 C T 13: 45,566,722 V566M probably damaging Het
Bag6 T C 17: 35,145,761 probably benign Het
Cdkl1 T G 12: 69,750,740 Y258S probably benign Het
Chil6 A T 3: 106,388,688 probably null Het
Clcn7 T C 17: 25,151,116 F326L probably benign Het
Cngb3 A G 4: 19,415,648 Y386C probably damaging Het
Dnah6 C A 6: 73,076,660 E2916* probably null Het
Dnhd1 A G 7: 105,713,754 E3841G probably benign Het
Fat1 G T 8: 45,036,239 V3493L probably benign Het
Gm13103 A G 4: 143,851,831 I220M probably damaging Het
Irx5 A T 8: 92,360,703 H421L probably damaging Het
Kbtbd6 T C 14: 79,453,449 V465A probably damaging Het
Kcp T A 6: 29,498,879 N340I probably damaging Het
Klhdc2 A G 12: 69,300,279 M73V probably benign Het
Lpar1 A G 4: 58,437,407 S341P probably damaging Het
Lrba G A 3: 86,327,661 V838I probably benign Het
Med12l A G 3: 59,263,254 I1652V probably damaging Het
Myo5c A T 9: 75,301,438 D1677V probably damaging Het
Ncoa2 A T 1: 13,164,903 N935K probably benign Het
Nfrkb T C 9: 31,410,139 S711P possibly damaging Het
Olfr1140 A G 2: 87,746,306 I37V probably benign Het
Olfr352 C A 2: 36,869,686 T40K possibly damaging Het
Olfr608 T C 7: 103,470,323 F95L probably damaging Het
Ptprd A C 4: 76,136,820 probably null Het
Rsph14 C A 10: 75,025,160 G103C probably damaging Het
Slco1a4 A G 6: 141,817,751 F413S probably benign Het
Slfn9 A G 11: 82,982,332 Y582H probably damaging Het
Tcirg1 A T 19: 3,904,210 probably benign Het
Trac G A 14: 54,222,981 probably benign Het
Wbp2nl G T 15: 82,313,816 V185L probably benign Het
Other mutations in Prl7d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:Prl7d1 APN 13 27710166 missense possibly damaging 0.91
IGL02139:Prl7d1 APN 13 27712083 missense probably damaging 1.00
PIT4305001:Prl7d1 UTSW 13 27714337 missense possibly damaging 0.90
PIT4531001:Prl7d1 UTSW 13 27710178 missense probably damaging 1.00
R0555:Prl7d1 UTSW 13 27712055 missense probably benign 0.13
R0625:Prl7d1 UTSW 13 27710140 missense probably benign 0.10
R0631:Prl7d1 UTSW 13 27710182 missense probably benign 0.32
R0837:Prl7d1 UTSW 13 27714338 missense probably benign 0.06
R1403:Prl7d1 UTSW 13 27709197 missense possibly damaging 0.89
R1403:Prl7d1 UTSW 13 27709197 missense possibly damaging 0.89
R1459:Prl7d1 UTSW 13 27709257 missense possibly damaging 0.81
R1643:Prl7d1 UTSW 13 27712131 missense possibly damaging 0.53
R1691:Prl7d1 UTSW 13 27709382 missense probably damaging 0.97
R2016:Prl7d1 UTSW 13 27710173 missense probably damaging 1.00
R3873:Prl7d1 UTSW 13 27716668 start codon destroyed probably null 0.92
R3874:Prl7d1 UTSW 13 27716668 start codon destroyed probably null 0.92
R5251:Prl7d1 UTSW 13 27709244 missense probably benign 0.33
R5275:Prl7d1 UTSW 13 27709247 missense probably damaging 0.99
R5295:Prl7d1 UTSW 13 27709247 missense probably damaging 0.99
R5398:Prl7d1 UTSW 13 27710074 missense probably damaging 1.00
R6798:Prl7d1 UTSW 13 27709397 critical splice acceptor site probably null
R6818:Prl7d1 UTSW 13 27714471 missense probably benign 0.07
R6825:Prl7d1 UTSW 13 27710142 missense probably benign 0.01
Posted On2014-01-21