Incidental Mutation 'R2329:Prl8a6'
ID 245812
Institutional Source Beutler Lab
Gene Symbol Prl8a6
Ensembl Gene ENSMUSG00000021345
Gene Name prolactin family 8, subfamily a, member 6
Synonyms Prlpc, PLP-Ca, PLP-calpha, Prlpc1
MMRRC Submission 040320-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R2329 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 27616664-27622671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27621050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 60 (H60R)
Ref Sequence ENSEMBL: ENSMUSP00000105984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018392] [ENSMUST00000080762] [ENSMUST00000110355]
AlphaFold Q9DAY2
Predicted Effect probably benign
Transcript: ENSMUST00000018392
AA Change: H59R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018392
Gene: ENSMUSG00000021345
AA Change: H59R

DomainStartEndE-ValueType
Pfam:Hormone_1 16 239 2.8e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080762
AA Change: H60R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079584
Gene: ENSMUSG00000021345
AA Change: H60R

DomainStartEndE-ValueType
Pfam:Hormone_1 17 86 1.9e-13 PFAM
Pfam:Hormone_1 83 205 2.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110355
AA Change: H60R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105984
Gene: ENSMUSG00000021345
AA Change: H60R

DomainStartEndE-ValueType
Pfam:Hormone_1 17 240 1e-58 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A C 13: 77,451,444 (GRCm39) S843R probably benign Het
Adamts15 G T 9: 30,813,781 (GRCm39) R795S probably damaging Het
Adora2a T A 10: 75,162,017 (GRCm39) V52E probably damaging Het
Amph T A 13: 19,323,520 (GRCm39) L594Q probably benign Het
Batf3 A T 1: 190,840,646 (GRCm39) probably null Het
Ccdc146 C T 5: 21,513,610 (GRCm39) probably null Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Csn3 A G 5: 88,077,862 (GRCm39) T123A possibly damaging Het
Cspg4 A G 9: 56,795,834 (GRCm39) T1190A probably benign Het
Dab2 C A 15: 6,459,044 (GRCm39) Q298K possibly damaging Het
Dpp6 T C 5: 27,656,286 (GRCm39) probably null Het
Efcab6 C T 15: 83,834,249 (GRCm39) R453Q possibly damaging Het
Ern2 C T 7: 121,772,710 (GRCm39) M610I possibly damaging Het
Fnip1 A G 11: 54,356,933 (GRCm39) D38G probably damaging Het
Fosb T C 7: 19,041,110 (GRCm39) T128A probably benign Het
Gad2 G A 2: 22,558,301 (GRCm39) V340M probably damaging Het
Gm19684 T A 17: 36,439,345 (GRCm39) probably benign Het
Gstk1 T A 6: 42,223,848 (GRCm39) D86E possibly damaging Het
Hus1 A G 11: 8,957,492 (GRCm39) probably null Het
Kbtbd8 T C 6: 95,103,761 (GRCm39) I547T probably benign Het
Mrpl38 T A 11: 116,022,845 (GRCm39) H373L possibly damaging Het
Nostrin A T 2: 68,991,438 (GRCm39) T144S probably damaging Het
Ros1 A G 10: 52,038,983 (GRCm39) I329T probably damaging Het
Scd2 T A 19: 44,286,492 (GRCm39) Y107* probably null Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc34a3 T C 2: 25,119,422 (GRCm39) T483A possibly damaging Het
Slc35c1 A T 2: 92,289,040 (GRCm39) Y155* probably null Het
Susd1 T C 4: 59,379,715 (GRCm39) D304G possibly damaging Het
Taf5 C T 19: 47,063,563 (GRCm39) S371L probably benign Het
Tenm4 A G 7: 96,545,069 (GRCm39) T2362A probably benign Het
Tsg101 A T 7: 46,540,868 (GRCm39) D158E probably damaging Het
Ttn G A 2: 76,599,786 (GRCm39) P19102S probably damaging Het
Ttn A G 2: 76,608,412 (GRCm39) V17837A probably damaging Het
Uhrf1 C A 17: 56,617,671 (GRCm39) probably null Het
Ulk4 C T 9: 121,101,953 (GRCm39) E42K probably damaging Het
Vmn1r184 A T 7: 25,966,387 (GRCm39) L44F probably damaging Het
Zfp932 A T 5: 110,157,406 (GRCm39) H368L probably benign Het
Other mutations in Prl8a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0157:Prl8a6 UTSW 13 27,620,162 (GRCm39) splice site probably benign
R0115:Prl8a6 UTSW 13 27,617,084 (GRCm39) missense probably benign 0.07
R0481:Prl8a6 UTSW 13 27,617,084 (GRCm39) missense probably benign 0.07
R0514:Prl8a6 UTSW 13 27,616,990 (GRCm39) nonsense probably null
R2209:Prl8a6 UTSW 13 27,619,369 (GRCm39) missense probably benign 0.03
R3876:Prl8a6 UTSW 13 27,617,015 (GRCm39) nonsense probably null
R5259:Prl8a6 UTSW 13 27,620,179 (GRCm39) nonsense probably null
R5800:Prl8a6 UTSW 13 27,619,453 (GRCm39) missense probably benign
R5921:Prl8a6 UTSW 13 27,621,171 (GRCm39) missense probably damaging 1.00
R6901:Prl8a6 UTSW 13 27,621,030 (GRCm39) missense possibly damaging 0.87
R7182:Prl8a6 UTSW 13 27,621,153 (GRCm39) missense probably damaging 1.00
R7230:Prl8a6 UTSW 13 27,617,021 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CATGATACTGTCCAATTGGTCTTGTC -3'
(R):5'- ATACAACTTTCCTGCGCCTAAGAG -3'

Sequencing Primer
(F):5'- CCTTGTTTCAGTAGTTGGAGCATC -3'
(R):5'- TTTCCTGCGCCTAAGAGAACTCAG -3'
Posted On 2014-10-30