Incidental Mutation 'IGL03024:Prl2c1'
ID 408059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prl2c1
Ensembl Gene ENSMUSG00000062551
Gene Name Prolactin family 2, subfamily c, member 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL03024
Quality Score
Status
Chromosome 13
Chromosomal Location 28033325-28041771 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 28040524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 139 (D139A)
Ref Sequence ENSEMBL: ENSMUSP00000105964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054932] [ENSMUST00000110335]
AlphaFold Q5SVL9
Predicted Effect probably benign
Transcript: ENSMUST00000054932
AA Change: D139A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000053446
Gene: ENSMUSG00000062551
AA Change: D139A

DomainStartEndE-ValueType
Pfam:Hormone_1 16 226 1.8e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079228
AA Change: D103A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000078221
Gene: ENSMUSG00000062551
AA Change: D103A

DomainStartEndE-ValueType
Pfam:Hormone_1 16 72 7.1e-14 PFAM
Pfam:Hormone_1 70 192 4.1e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110335
AA Change: D139A

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105964
Gene: ENSMUSG00000062551
AA Change: D139A

DomainStartEndE-ValueType
Pfam:Hormone_1 16 228 1.9e-77 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,212,464 (GRCm39) F257L probably benign Het
Aaas A G 15: 102,258,926 (GRCm39) probably benign Het
AI661453 C T 17: 47,757,513 (GRCm39) R57W probably damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Bahd1 T C 2: 118,746,597 (GRCm39) V72A probably damaging Het
Bcl3 A G 7: 19,543,059 (GRCm39) probably benign Het
Blnk A T 19: 40,982,445 (GRCm39) probably benign Het
Cd81 T C 7: 142,621,089 (GRCm39) I230T probably benign Het
Cdc20b A T 13: 113,227,576 (GRCm39) R485S possibly damaging Het
Cenpp C A 13: 49,617,730 (GRCm39) A273S probably benign Het
Cep295 A G 9: 15,236,868 (GRCm39) V2022A probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cfap61 C A 2: 145,781,919 (GRCm39) probably benign Het
Col8a1 T A 16: 57,448,727 (GRCm39) H261L unknown Het
Cyp2j5 A T 4: 96,517,760 (GRCm39) M484K probably benign Het
D930020B18Rik T C 10: 121,521,527 (GRCm39) probably benign Het
Dhdds A T 4: 133,710,160 (GRCm39) L203Q probably damaging Het
Dusp6 A G 10: 99,102,156 (GRCm39) T381A probably damaging Het
Elp1 A G 4: 56,774,686 (GRCm39) probably null Het
Fnbp4 A G 2: 90,581,523 (GRCm39) D192G probably benign Het
Gbp2 G T 3: 142,337,780 (GRCm39) V299F probably damaging Het
Gfpt1 G T 6: 87,030,813 (GRCm39) V66F probably damaging Het
Heatr1 T C 13: 12,422,390 (GRCm39) probably benign Het
Irf8 T A 8: 121,480,097 (GRCm39) S112T probably damaging Het
Jmy G T 13: 93,635,707 (GRCm39) N36K probably damaging Het
Kcnt2 T C 1: 140,498,193 (GRCm39) I866T probably benign Het
Kif1c A T 11: 70,596,015 (GRCm39) M210L probably damaging Het
Kng1 G A 16: 22,893,442 (GRCm39) V272I possibly damaging Het
Lrig2 A C 3: 104,401,389 (GRCm39) M166R probably damaging Het
Mastl A G 2: 23,029,931 (GRCm39) L265P probably damaging Het
Mmp27 A G 9: 7,581,377 (GRCm39) T547A probably benign Het
Myh4 T C 11: 67,139,305 (GRCm39) C541R probably damaging Het
Naip2 A T 13: 100,325,862 (GRCm39) F15L possibly damaging Het
Nipal1 G T 5: 72,820,968 (GRCm39) probably null Het
Nrp2 A T 1: 62,810,893 (GRCm39) N645Y probably damaging Het
Or1j19 T A 2: 36,676,858 (GRCm39) F107Y possibly damaging Het
Or4g17 T A 2: 111,209,935 (GRCm39) F197I possibly damaging Het
Or7d9 T A 9: 20,197,280 (GRCm39) M103K probably benign Het
Plcl1 T A 1: 55,734,946 (GRCm39) S96T probably damaging Het
Prmt5 A T 14: 54,754,055 (GRCm39) M43K possibly damaging Het
Ptpn21 T A 12: 98,646,315 (GRCm39) M1048L probably benign Het
Ptprq T C 10: 107,521,427 (GRCm39) E653G possibly damaging Het
Rbm6 A G 9: 107,664,567 (GRCm39) S689P probably damaging Het
Rtn3 A G 19: 7,460,455 (GRCm39) probably benign Het
Shoc2 T C 19: 53,991,458 (GRCm39) I241T probably benign Het
Sipa1 A T 19: 5,706,189 (GRCm39) D380E probably damaging Het
Slc1a6 T C 10: 78,650,442 (GRCm39) V560A probably benign Het
Speer2 T C 16: 69,655,003 (GRCm39) H154R possibly damaging Het
Tlk1 A T 2: 70,576,380 (GRCm39) C247* probably null Het
Trim15 A G 17: 37,177,785 (GRCm39) L70P probably damaging Het
Ttc9b T C 7: 27,354,358 (GRCm39) L148P probably damaging Het
Vwa8 C T 14: 79,232,538 (GRCm39) P627S probably benign Het
Other mutations in Prl2c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02630:Prl2c1 APN 13 28,041,480 (GRCm39) splice site probably benign
IGL02648:Prl2c1 APN 13 28,041,542 (GRCm39) missense probably benign 0.44
IGL02823:Prl2c1 APN 13 28,040,416 (GRCm39) splice site probably benign
IGL03229:Prl2c1 APN 13 28,040,612 (GRCm39) splice site probably benign
R4739:Prl2c1 UTSW 13 28,041,661 (GRCm39) missense probably damaging 1.00
R4978:Prl2c1 UTSW 13 28,041,553 (GRCm39) missense probably benign 0.00
R6860:Prl2c1 UTSW 13 28,035,724 (GRCm39) missense probably benign 0.31
R7719:Prl2c1 UTSW 13 28,035,780 (GRCm39) missense probably damaging 1.00
R7984:Prl2c1 UTSW 13 28,039,310 (GRCm39) critical splice donor site probably null
R8795:Prl2c1 UTSW 13 28,033,390 (GRCm39) missense probably benign 0.02
R8795:Prl2c1 UTSW 13 28,033,389 (GRCm39) missense possibly damaging 0.86
Posted On 2016-08-02