Incidental Mutation 'R7549:Prl6a1'
ID 584416
Institutional Source Beutler Lab
Gene Symbol Prl6a1
Ensembl Gene ENSMUSG00000069259
Gene Name prolactin family 6, subfamily a, member 1
Synonyms PLP-B, Prlpb
MMRRC Submission 045620-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7549 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 27496610-27503235 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27502954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 183 (E183D)
Ref Sequence ENSEMBL: ENSMUSP00000089269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091679] [ENSMUST00000091680]
AlphaFold O35257
Predicted Effect probably damaging
Transcript: ENSMUST00000091679
AA Change: E188D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089268
Gene: ENSMUSG00000069259
AA Change: E188D

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:Hormone_1 21 235 8e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091680
AA Change: E183D

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000089269
Gene: ENSMUSG00000069259
AA Change: E183D

DomainStartEndE-ValueType
Pfam:Hormone_1 16 230 1.1e-61 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Adam1b A G 5: 121,639,981 (GRCm39) C355R probably damaging Het
Adamtsl3 T C 7: 82,223,117 (GRCm39) L966P probably damaging Het
Aldh18a1 A G 19: 40,553,291 (GRCm39) C486R probably damaging Het
Aqp11 C A 7: 97,387,284 (GRCm39) probably benign Het
Arhgap28 A G 17: 68,178,961 (GRCm39) L350P probably damaging Het
Art3 A G 5: 92,551,514 (GRCm39) Q291R probably benign Het
Asb15 A G 6: 24,559,029 (GRCm39) probably null Het
Bmp8b T C 4: 122,999,448 (GRCm39) I102T possibly damaging Het
Bsn T C 9: 107,992,014 (GRCm39) D1246G probably benign Het
Cass4 G A 2: 172,268,718 (GRCm39) G267S probably benign Het
Cass4 G T 2: 172,268,719 (GRCm39) G267V probably benign Het
Ccr7 T C 11: 99,036,727 (GRCm39) Y65C probably damaging Het
Clstn2 A C 9: 97,464,597 (GRCm39) I186S probably benign Het
Cyp2r1 A G 7: 114,153,879 (GRCm39) I105T possibly damaging Het
Efr3a T A 15: 65,687,262 (GRCm39) probably null Het
Erg A C 16: 95,170,179 (GRCm39) probably null Het
Eya4 A T 10: 22,987,557 (GRCm39) V524E probably damaging Het
Farp1 C A 14: 121,472,589 (GRCm39) N241K possibly damaging Het
Fat1 A T 8: 45,442,031 (GRCm39) Y1111F probably benign Het
Fbn1 T C 2: 125,185,947 (GRCm39) E1607G probably damaging Het
Fbn2 A T 18: 58,153,536 (GRCm39) C2575* probably null Het
Fsip2 A T 2: 82,824,337 (GRCm39) D6690V probably damaging Het
Fzd4 T C 7: 89,056,346 (GRCm39) V131A possibly damaging Het
Gfral T A 9: 76,106,257 (GRCm39) N110I probably benign Het
Glce T C 9: 61,968,275 (GRCm39) D292G probably damaging Het
Gm19410 T A 8: 36,266,500 (GRCm39) I1051K probably benign Het
Gm5773 A T 3: 93,680,323 (GRCm39) probably benign Het
Hcn3 A T 3: 89,057,307 (GRCm39) H430Q probably null Het
Hspa8 T A 9: 40,714,255 (GRCm39) probably null Het
Ifna7 A T 4: 88,734,664 (GRCm39) D67V possibly damaging Het
Kif5c T A 2: 49,591,105 (GRCm39) M319K probably benign Het
Klk7 G T 7: 43,462,197 (GRCm39) probably null Het
Kmt2c T C 5: 25,619,968 (GRCm39) K102E possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrp1b C T 2: 40,765,134 (GRCm39) M2897I Het
Lysmd2 T C 9: 75,544,519 (GRCm39) S211P probably damaging Het
Magi1 T G 6: 93,685,095 (GRCm39) E761A probably benign Het
Mbd5 T A 2: 49,141,355 (GRCm39) I106N probably damaging Het
Mdc1 G A 17: 36,159,749 (GRCm39) A669T probably null Het
Mmp1b A G 9: 7,384,753 (GRCm39) I265T probably benign Het
Mmp2 T A 8: 93,563,594 (GRCm39) L356Q probably null Het
Mroh8 A G 2: 157,111,492 (GRCm39) L154P probably benign Het
Muc13 T C 16: 33,619,806 (GRCm39) S185P unknown Het
Nuak1 T A 10: 84,210,403 (GRCm39) I562F probably benign Het
Obscn C A 11: 58,933,664 (GRCm39) probably null Het
Or51t4 T C 7: 102,597,798 (GRCm39) I42T possibly damaging Het
Or5w14 A T 2: 87,542,115 (GRCm39) M45K probably damaging Het
Or9k7 T C 10: 130,046,853 (GRCm39) M49V probably benign Het
Pex3 T C 10: 13,418,414 (GRCm39) M81V probably benign Het
Pex5l T A 3: 33,136,184 (GRCm39) I12F probably benign Het
Phf3 G T 1: 30,870,556 (GRCm39) T164N probably benign Het
Phpt1 G T 2: 25,464,844 (GRCm39) A3E probably benign Het
Pja2 A T 17: 64,616,410 (GRCm39) L162M probably damaging Het
Pkdrej T A 15: 85,703,994 (GRCm39) K647N probably damaging Het
Ppp2r1a T C 17: 21,182,944 (GRCm39) S543P possibly damaging Het
Prdm13 C A 4: 21,679,072 (GRCm39) D473Y probably damaging Het
Psmd3 C T 11: 98,581,787 (GRCm39) T304M probably benign Het
Ptpn5 C T 7: 46,735,874 (GRCm39) probably null Het
Rassf6 T G 5: 90,754,661 (GRCm39) I206L probably damaging Het
Rif1 A G 2: 51,968,519 (GRCm39) H234R possibly damaging Het
Rint1 T C 5: 24,020,702 (GRCm39) V575A probably benign Het
Ros1 G A 10: 52,021,930 (GRCm39) T639I probably damaging Het
Ryr2 A G 13: 11,752,871 (GRCm39) F1817L probably benign Het
Ska1 T C 18: 74,333,088 (GRCm39) D110G probably benign Het
Slc25a41 G A 17: 57,340,791 (GRCm39) T227I probably damaging Het
Slc6a15 T C 10: 103,224,998 (GRCm39) S29P probably benign Het
Slc8a3 A T 12: 81,361,544 (GRCm39) I425K probably benign Het
Sox8 T A 17: 25,786,935 (GRCm39) Q256L probably damaging Het
Tars3 T C 7: 65,297,341 (GRCm39) V152A probably damaging Het
Tbx10 A T 19: 4,046,651 (GRCm39) T44S probably benign Het
Terb1 T A 8: 105,224,716 (GRCm39) I52F possibly damaging Het
Tes AGCCGGCC AGCC 6: 17,099,740 (GRCm39) probably null Het
Tgm1 A G 14: 55,943,360 (GRCm39) V527A probably benign Het
Tmed10 G T 12: 85,391,036 (GRCm39) Y167* probably null Het
Tmem165 T G 5: 76,356,415 (GRCm39) S318R possibly damaging Het
Trim9 G T 12: 70,393,715 (GRCm39) S76R probably damaging Het
Tti1 A G 2: 157,849,088 (GRCm39) V717A probably damaging Het
Vmn2r86 T A 10: 130,282,697 (GRCm39) I640F probably damaging Het
Vwf A G 6: 125,603,230 (GRCm39) N860S Het
Xirp2 A G 2: 67,339,241 (GRCm39) K494R possibly damaging Het
Zkscan4 G A 13: 21,668,419 (GRCm39) S319N probably damaging Het
Other mutations in Prl6a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Prl6a1 APN 13 27,500,347 (GRCm39) missense possibly damaging 0.72
IGL01688:Prl6a1 APN 13 27,501,969 (GRCm39) missense probably damaging 1.00
IGL01922:Prl6a1 APN 13 27,499,343 (GRCm39) missense possibly damaging 0.57
IGL02059:Prl6a1 APN 13 27,499,348 (GRCm39) missense probably benign 0.02
IGL03170:Prl6a1 APN 13 27,499,406 (GRCm39) missense possibly damaging 0.95
R0027:Prl6a1 UTSW 13 27,502,011 (GRCm39) missense probably damaging 1.00
R0027:Prl6a1 UTSW 13 27,502,011 (GRCm39) missense probably damaging 1.00
R0049:Prl6a1 UTSW 13 27,501,980 (GRCm39) missense probably damaging 0.99
R0606:Prl6a1 UTSW 13 27,498,177 (GRCm39) intron probably benign
R0944:Prl6a1 UTSW 13 27,502,149 (GRCm39) splice site probably benign
R1518:Prl6a1 UTSW 13 27,502,911 (GRCm39) missense probably null 0.19
R1518:Prl6a1 UTSW 13 27,502,910 (GRCm39) missense possibly damaging 0.72
R1566:Prl6a1 UTSW 13 27,499,410 (GRCm39) missense possibly damaging 0.84
R1621:Prl6a1 UTSW 13 27,501,993 (GRCm39) missense probably benign 0.01
R2011:Prl6a1 UTSW 13 27,499,352 (GRCm39) missense probably benign 0.00
R2058:Prl6a1 UTSW 13 27,503,081 (GRCm39) missense probably benign 0.05
R2937:Prl6a1 UTSW 13 27,499,303 (GRCm39) missense probably damaging 0.98
R3079:Prl6a1 UTSW 13 27,502,983 (GRCm39) missense possibly damaging 0.71
R4685:Prl6a1 UTSW 13 27,500,307 (GRCm39) missense probably benign 0.00
R4856:Prl6a1 UTSW 13 27,502,983 (GRCm39) missense probably damaging 0.98
R4886:Prl6a1 UTSW 13 27,502,983 (GRCm39) missense probably damaging 0.98
R5495:Prl6a1 UTSW 13 27,496,654 (GRCm39) missense possibly damaging 0.95
R5923:Prl6a1 UTSW 13 27,500,346 (GRCm39) missense probably benign 0.08
R6772:Prl6a1 UTSW 13 27,503,031 (GRCm39) missense probably damaging 1.00
R7411:Prl6a1 UTSW 13 27,502,125 (GRCm39) missense probably damaging 1.00
R7501:Prl6a1 UTSW 13 27,500,282 (GRCm39) missense possibly damaging 0.69
R7563:Prl6a1 UTSW 13 27,498,221 (GRCm39) critical splice donor site probably null
R7773:Prl6a1 UTSW 13 27,502,125 (GRCm39) missense probably damaging 1.00
R8024:Prl6a1 UTSW 13 27,502,678 (GRCm39) intron probably benign
R8994:Prl6a1 UTSW 13 27,499,417 (GRCm39) missense probably benign 0.01
R9129:Prl6a1 UTSW 13 27,502,064 (GRCm39) missense
R9395:Prl6a1 UTSW 13 27,499,400 (GRCm39) missense possibly damaging 0.71
Z1177:Prl6a1 UTSW 13 27,499,304 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACACTACTTTGGCATAGAGAC -3'
(R):5'- GTATTACAGGGTGAAATGAGATGTC -3'

Sequencing Primer
(F):5'- CATCCCAAGAGTTCTTTCAAT -3'
(R):5'- AGACATCAACATGTTTAAAGAGTCTG -3'
Posted On 2019-10-17