Incidental Mutation 'R7230:Prl8a6'
ID 562430
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 045302-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R7230 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 27616664-27622671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27617021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 223 (Y223F)
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: Y222F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000018392
Gene: ENSMUSG00000021345
AA Change: Y222F

DomainStartEndE-ValueType
Pfam:Hormone_1 16 239 2.8e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080762
AA Change: Y188F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000079584
Gene: ENSMUSG00000021345
AA Change: Y188F

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: Y223F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105984
Gene: ENSMUSG00000021345
AA Change: Y223F

DomainStartEndE-ValueType
Pfam:Hormone_1 17 240 1e-58 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A C 7: 45,766,812 (GRCm39) D989E probably benign Het
Adad1 A G 3: 37,119,315 (GRCm39) Y132C probably damaging Het
Adam33 A T 2: 130,895,483 (GRCm39) C579S probably damaging Het
Adam6a A C 12: 113,509,202 (GRCm39) Q525P probably damaging Het
Alpk3 C T 7: 80,743,042 (GRCm39) P953L probably damaging Het
Arb2a G A 13: 77,907,591 (GRCm39) E5K probably damaging Het
Atat1 A G 17: 36,220,331 (GRCm39) S54P probably damaging Het
Bpgm A G 6: 34,464,502 (GRCm39) E73G possibly damaging Het
Cab39 T A 1: 85,775,880 (GRCm39) probably null Het
Ccdc162 A G 10: 41,554,809 (GRCm39) L285P probably damaging Het
Ccdc30 T C 4: 119,196,979 (GRCm39) E429G possibly damaging Het
Cct3 C T 3: 88,220,567 (GRCm39) R260W probably damaging Het
Chd1 C A 17: 15,927,199 (GRCm39) probably null Het
Cxcr4 T G 1: 128,517,527 (GRCm39) T45P probably damaging Het
Disp2 G T 2: 118,622,286 (GRCm39) R1006L probably damaging Het
Dlec1 T G 9: 118,953,606 (GRCm39) probably null Het
Dram2 T G 3: 106,480,294 (GRCm39) Y202* probably null Het
Etl4 C A 2: 20,802,799 (GRCm39) T1035K probably damaging Het
F5 T C 1: 164,012,522 (GRCm39) F479L probably benign Het
Frrs1l C A 4: 56,972,372 (GRCm39) G110W probably damaging Het
Gpbp1l1 T A 4: 116,445,807 (GRCm39) I303N probably damaging Het
Grik5 A G 7: 24,722,495 (GRCm39) F538S probably damaging Het
Hgsnat C A 8: 26,444,860 (GRCm39) probably null Het
Hs2st1 T C 3: 144,140,307 (GRCm39) D338G probably benign Het
Impdh1 T C 6: 29,206,062 (GRCm39) probably null Het
Ipo9 T C 1: 135,334,496 (GRCm39) probably benign Het
Kdm4b T G 17: 56,676,155 (GRCm39) L220R probably damaging Het
Map1a T A 2: 121,131,299 (GRCm39) F705Y probably damaging Het
Med22 C T 2: 26,798,223 (GRCm39) D99N probably benign Het
Muc6 T C 7: 141,235,479 (GRCm39) Y519C probably damaging Het
Myt1l A G 12: 29,833,873 (GRCm39) I25M probably damaging Het
Ncam1 T A 9: 49,421,123 (GRCm39) I731F probably benign Het
Nlrp4f T A 13: 65,342,715 (GRCm39) H310L probably benign Het
Or2ag1b A T 7: 106,288,731 (GRCm39) M69K possibly damaging Het
Or2ag2b C A 7: 106,417,386 (GRCm39) T32K possibly damaging Het
Or4f14 T A 2: 111,742,906 (GRCm39) Y123F probably damaging Het
Or4k40 A T 2: 111,251,261 (GRCm39) F12I probably damaging Het
Prss39 A G 1: 34,541,228 (GRCm39) D244G probably damaging Het
Ptx4 A T 17: 25,342,077 (GRCm39) Q184L possibly damaging Het
Slc26a1 A T 5: 108,819,611 (GRCm39) D545E probably damaging Het
Slc7a12 T C 3: 14,570,441 (GRCm39) S398P probably damaging Het
Slc9a4 T C 1: 40,639,931 (GRCm39) V241A probably damaging Het
Snw1 T C 12: 87,511,324 (GRCm39) D109G probably damaging Het
Syne2 T A 12: 75,980,674 (GRCm39) I1477K probably benign Het
Timd4 A T 11: 46,701,691 (GRCm39) Y18F probably benign Het
Tmprss2 A G 16: 97,379,797 (GRCm39) Y168H probably benign Het
Ttn A T 2: 76,569,044 (GRCm39) I27283K probably damaging Het
Tulp4 C T 17: 6,282,055 (GRCm39) H695Y probably damaging Het
Vasn C T 16: 4,467,486 (GRCm39) R478C probably benign Het
Zfp58 A T 13: 67,640,082 (GRCm39) C136* probably null 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
R2329:Prl8a6 UTSW 13 27,621,050 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- GGACAGCCTGAATGTTATGGAG -3'
(R):5'- CTGATTGCACACAGACAATATAAGG -3'

Sequencing Primer
(F):5'- TAGGATACATGTATCAGCTGATGAG -3'
(R):5'- TGCACACAGACAATATAAGGAGAAAG -3'
Posted On 2019-06-26