Incidental Mutation 'IGL02992:Prl3d2'
ID406965
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prl3d2
Ensembl Gene ENSMUSG00000062737
Gene Nameprolactin family 3, subfamily d, member 1
SynonymsPlib, PL-Ib
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL02992
Quality Score
Status
Chromosome13
Chromosomal Location27121698-27127555 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 27127283 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 179 (E179D)
Ref Sequence ENSEMBL: ENSMUSP00000079579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080755] [ENSMUST00000164964]
Predicted Effect probably benign
Transcript: ENSMUST00000080755
AA Change: E179D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000079579
Gene: ENSMUSG00000062737
AA Change: E179D

DomainStartEndE-ValueType
Pfam:Hormone_1 17 224 4.5e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164964
AA Change: E180D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130458
Gene: ENSMUSG00000062737
AA Change: E180D

DomainStartEndE-ValueType
Pfam:Hormone_1 16 223 3e-69 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik T A 1: 105,719,464 L684M possibly damaging Het
Abca4 A G 3: 122,128,286 K1164E probably damaging Het
Arhgap42 G A 9: 8,998,248 probably benign Het
Arhgef12 T C 9: 42,999,077 D612G probably damaging Het
Cpne3 T C 4: 19,532,486 D309G probably benign Het
Daw1 T C 1: 83,197,213 probably benign Het
Daxx T A 17: 33,911,748 C246S probably damaging Het
Dpp7 T C 2: 25,354,577 D264G possibly damaging Het
Dync2h1 T A 9: 7,137,074 H1472L probably benign Het
Fastkd2 T C 1: 63,737,924 probably benign Het
Fcrls T G 3: 87,259,466 R73S probably damaging Het
Gatb A G 3: 85,618,916 D367G probably damaging Het
Gm20547 T A 17: 34,857,119 E654V probably damaging Het
Gm839 T A 6: 89,212,527 noncoding transcript Het
Gtf2ird2 A T 5: 134,217,614 M905L possibly damaging Het
Hoxb2 A T 11: 96,353,084 I174F probably damaging Het
Hrh3 A G 2: 180,100,815 V308A probably benign Het
Ints9 A G 14: 64,980,164 K47E probably benign Het
Irak3 A T 10: 120,182,661 Y61N probably damaging Het
Itpr1 A G 6: 108,381,315 E614G probably damaging Het
Lgals3 A T 14: 47,385,525 I214L probably benign Het
Msh4 G T 3: 153,872,325 T444K possibly damaging Het
Myh7b C A 2: 155,621,410 Q521K probably damaging Het
Naip5 T A 13: 100,223,028 I567F probably damaging Het
Nf1 A G 11: 79,434,933 probably benign Het
Nlrc3 C T 16: 3,954,023 probably benign Het
Nlrc5 A C 8: 94,506,573 E1353A possibly damaging Het
Nr1h3 T A 2: 91,190,566 I260F probably damaging Het
Pcnx G A 12: 81,964,120 R1211Q probably damaging Het
Pde10a A G 17: 8,949,461 K605E probably damaging Het
Pdzd2 T C 15: 12,382,622 E1215G possibly damaging Het
Pex12 A G 11: 83,297,927 S81P probably damaging Het
Pik3c2b C A 1: 133,066,980 Y227* probably null Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Prkg2 T G 5: 99,024,506 S117R probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Scn10a T C 9: 119,609,560 T1748A possibly damaging Het
Sept10 T C 10: 59,192,178 N107S possibly damaging Het
Smu1 T A 4: 40,739,550 N420I probably damaging Het
Sos1 A G 17: 80,419,016 F835L probably benign Het
Spg11 T C 2: 122,058,398 D2164G probably damaging Het
Svbp A G 4: 119,195,930 E8G probably damaging Het
Tgm3 T A 2: 130,041,979 M519K probably damaging Het
Tspan12 A G 6: 21,799,877 probably null Het
Vps52 T C 17: 33,958,350 V122A probably damaging Het
Wipf1 T C 2: 73,434,083 Y458C probably damaging Het
Zfp369 T A 13: 65,294,451 D286E possibly damaging Het
Other mutations in Prl3d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Prl3d2 APN 13 27122349 missense probably damaging 1.00
IGL01362:Prl3d2 APN 13 27122455 nonsense probably null
IGL02647:Prl3d2 APN 13 27126016 missense probably benign 0.06
IGL02751:Prl3d2 APN 13 27126031 critical splice donor site probably null
R1116:Prl3d2 UTSW 13 27126002 missense probably damaging 1.00
R1500:Prl3d2 UTSW 13 27121706 unclassified probably benign
R4713:Prl3d2 UTSW 13 27122396 missense probably benign
R5193:Prl3d2 UTSW 13 27122329 missense possibly damaging 0.87
R6386:Prl3d2 UTSW 13 27127303 missense probably damaging 0.97
R7830:Prl3d2 UTSW 13 27126017 missense probably benign 0.00
R7999:Prl3d2 UTSW 13 27123966 missense not run
Posted On2016-08-02