Incidental Mutation 'IGL03268:Prl8a2'
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ID415165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prl8a2
Ensembl Gene ENSMUSG00000018259
Gene Nameprolactin family 8, subfamily a, member 2
SynonymsDPRP, Dtprp, D/tPRP, mdPRP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL03268
Quality Score
Status
Chromosome13
Chromosomal Location27345673-27354216 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27353955 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 204 (K204R)
Ref Sequence ENSEMBL: ENSMUSP00000105992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018403] [ENSMUST00000110363]
Predicted Effect probably benign
Transcript: ENSMUST00000018403
AA Change: K205R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000018403
Gene: ENSMUSG00000018259
AA Change: K205R

DomainStartEndE-ValueType
Pfam:Hormone_1 16 240 6.4e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110363
AA Change: K204R

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000105992
Gene: ENSMUSG00000018259
AA Change: K204R

DomainStartEndE-ValueType
Pfam:Hormone_1 15 239 2.1e-46 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000223918
AA Change: K65R
Coding Region Coverage
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,191 probably benign Het
Acvrl1 A T 15: 101,135,922 I162F possibly damaging Het
Adprhl1 A G 8: 13,246,170 probably benign Het
Anapc7 G A 5: 122,429,606 probably null Het
Ankrd13a T C 5: 114,792,235 L227P probably damaging Het
Anxa5 T C 3: 36,450,679 I245V probably benign Het
Arf1 A T 11: 59,212,837 V123E possibly damaging Het
Catsperg1 G A 7: 29,200,243 R338C probably damaging Het
Cc2d1a A C 8: 84,133,525 L855R probably damaging Het
Cdh18 G A 15: 23,366,867 A220T probably damaging Het
Cep350 T C 1: 155,953,549 H203R probably benign Het
Cep78 G T 19: 15,974,442 S333* probably null Het
Chrna2 T A 14: 66,150,946 probably benign Het
Dact1 T C 12: 71,317,483 V346A probably damaging Het
Dcn A G 10: 97,483,378 I6V probably benign Het
Dlg3 A G X: 100,809,887 Y600C probably damaging Het
Dmd A G X: 83,806,208 E1084G probably damaging Het
Epb41 A C 4: 131,928,495 D825E probably damaging Het
Galc T A 12: 98,222,593 probably benign Het
Hmcn1 T A 1: 150,772,510 D675V probably damaging Het
Igkv2-137 A G 6: 67,556,108 D85G probably benign Het
Kxd1 A G 8: 70,508,486 I78T probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lama2 A T 10: 27,422,653 I149N probably damaging Het
Mbnl2 G T 14: 120,379,157 C61F probably damaging Het
Mcts1 T C X: 38,601,982 I22T possibly damaging Het
Olfr594 T G 7: 103,220,641 F308V probably benign Het
Olfr725 T C 14: 50,034,567 T279A probably damaging Het
Pde12 T A 14: 26,668,459 E365V probably benign Het
Rnf25 A T 1: 74,599,058 probably benign Het
Rragb A G X: 153,140,497 D5G unknown Het
Rsrc2 T A 5: 123,740,727 K56* probably null Het
Scn5a T C 9: 119,521,231 Q859R probably damaging Het
Sept4 G A 11: 87,589,703 V388M probably damaging Het
Slc29a2 C T 19: 5,024,503 probably benign Het
Slc30a5 G A 13: 100,806,703 T549I probably damaging Het
Slc7a2 A G 8: 40,912,517 T462A probably benign Het
Spsb2 A G 6: 124,809,487 E61G probably damaging Het
Srr A G 11: 74,913,117 Y5H probably benign Het
Suclg2 T C 6: 95,569,592 D301G probably damaging Het
Syt14 A G 1: 192,986,834 V37A probably benign Het
Syt9 A G 7: 107,436,405 N210D probably benign Het
Tenm3 T C 8: 48,235,523 D2343G probably damaging Het
Tma7 A G 9: 109,078,382 probably benign Het
Tor3a T C 1: 156,669,450 D175G probably damaging Het
Tpo G T 12: 30,094,965 A595D possibly damaging Het
Tpst2 T C 5: 112,308,225 V210A probably damaging Het
Uchl1 A T 5: 66,682,481 E122V probably benign Het
Vmn1r210 A T 13: 22,827,235 F294I probably benign Het
Other mutations in Prl8a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02654:Prl8a2 APN 13 27352797 missense possibly damaging 0.56
R0557:Prl8a2 UTSW 13 27352892 nonsense probably null
R0574:Prl8a2 UTSW 13 27348900 missense probably damaging 1.00
R1166:Prl8a2 UTSW 13 27353952 missense possibly damaging 0.53
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 splice site probably null
R6452:Prl8a2 UTSW 13 27352797 missense probably benign 0.08
R6906:Prl8a2 UTSW 13 27348917 missense probably benign 0.03
R7217:Prl8a2 UTSW 13 27351015 missense possibly damaging 0.89
R7490:Prl8a2 UTSW 13 27352770 missense possibly damaging 0.47
R8170:Prl8a2 UTSW 13 27352811 missense probably benign
Posted On2016-08-02