Incidental Mutation 'R2058:Prl6a1'
ID 228398
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 040063-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R2058 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 27496610-27503235 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27503081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 231 (Y231H)
Ref Sequence ENSEMBL: ENSMUSP00000089268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091679] [ENSMUST00000091680]
AlphaFold O35257
Predicted Effect probably benign
Transcript: ENSMUST00000091679
AA Change: Y231H

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000089268
Gene: ENSMUSG00000069259
AA Change: Y231H

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:Hormone_1 21 235 8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091680
AA Change: Y226H

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000089269
Gene: ENSMUSG00000069259
AA Change: Y226H

DomainStartEndE-ValueType
Pfam:Hormone_1 16 230 1.1e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119758
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 99% (94/95)
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A T 8: 25,162,082 (GRCm39) probably benign Het
Adgrf5 A G 17: 43,739,477 (GRCm39) Y72C possibly damaging Het
Alas1 T C 9: 106,118,489 (GRCm39) E211G probably damaging Het
Alkbh1 C T 12: 87,490,520 (GRCm39) probably benign Het
Ano1 A G 7: 144,201,789 (GRCm39) V334A probably damaging Het
Arhgap18 C T 10: 26,730,904 (GRCm39) T122I probably benign Het
Arhgef4 A G 1: 34,761,458 (GRCm39) K238R unknown Het
Atf6b A T 17: 34,867,549 (GRCm39) probably null Het
Atp2a1 G A 7: 126,046,844 (GRCm39) A847V possibly damaging Het
Baz1b T A 5: 135,246,079 (GRCm39) N509K probably benign Het
BC051076 A T 5: 88,111,844 (GRCm39) noncoding transcript Het
Cage1 A G 13: 38,207,356 (GRCm39) V163A probably benign Het
Canx T C 11: 50,195,252 (GRCm39) N272S probably damaging Het
Cd302 T A 2: 60,082,767 (GRCm39) I186F possibly damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cep112 T A 11: 108,410,087 (GRCm39) probably null Het
Cmtm4 A C 8: 105,081,920 (GRCm39) F156V probably damaging Het
Col4a1 T A 8: 11,260,792 (GRCm39) D1330V probably damaging Het
Ctsa T G 2: 164,676,822 (GRCm39) M136R probably null Het
Cyp2d10 T A 15: 82,288,015 (GRCm39) I363F probably damaging Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Dmwd T A 7: 18,814,652 (GRCm39) L434Q probably damaging Het
Fat4 T A 3: 38,945,319 (GRCm39) M1404K possibly damaging Het
Gcc2 T A 10: 58,121,779 (GRCm39) S1102T probably benign Het
Gcm2 T C 13: 41,263,430 (GRCm39) M1V probably null Het
Gna14 G C 19: 16,585,505 (GRCm39) probably benign Het
Gsk3b T A 16: 38,008,271 (GRCm39) D192E probably benign Het
Gulo A G 14: 66,228,608 (GRCm39) V270A possibly damaging Het
Hps5 T A 7: 46,417,475 (GRCm39) D904V probably damaging Het
Il7 A T 3: 7,638,975 (GRCm39) N130K probably damaging Het
Jak3 A T 8: 72,138,027 (GRCm39) probably null Het
Klhl6 T G 16: 19,801,681 (GRCm39) T25P probably benign Het
Kremen2 T C 17: 23,961,691 (GRCm39) E272G possibly damaging Het
Map3k21 A G 8: 126,665,461 (GRCm39) K550R probably benign Het
Mphosph10 T A 7: 64,026,499 (GRCm39) L650F probably damaging Het
Mrpl48 T C 7: 100,198,540 (GRCm39) E204G probably damaging Het
Msh5 A C 17: 35,248,732 (GRCm39) V738G probably damaging Het
Mybph G A 1: 134,127,857 (GRCm39) C473Y probably damaging Het
Nid1 A C 13: 13,675,058 (GRCm39) H926P probably benign Het
Nlrp9a T A 7: 26,256,787 (GRCm39) I46K possibly damaging Het
Notch3 T C 17: 32,362,618 (GRCm39) T1336A probably benign Het
Nsun4 T C 4: 115,910,877 (GRCm39) probably null Het
Or1e30 A G 11: 73,678,100 (GRCm39) N112S probably benign Het
Or5m10 A T 2: 85,717,296 (GRCm39) T51S possibly damaging Het
Osgin1 A G 8: 120,172,412 (GRCm39) D402G possibly damaging Het
Patl1 A G 19: 11,909,511 (GRCm39) E479G possibly damaging Het
Pbsn T C X: 76,891,582 (GRCm39) K72E probably damaging Het
Pcdhb13 A G 18: 37,577,620 (GRCm39) Q666R possibly damaging Het
Pi4k2b G A 5: 52,908,022 (GRCm39) V131I probably benign Het
Pkn2 G A 3: 142,559,232 (GRCm39) H98Y possibly damaging Het
Pms1 A G 1: 53,314,327 (GRCm39) Y73H probably benign Het
Ppt2 A T 17: 34,841,818 (GRCm39) probably benign Het
Prkdc A G 16: 15,545,469 (GRCm39) T1862A probably benign Het
Ranbp3l T A 15: 9,029,641 (GRCm39) V41D probably damaging Het
Rhobtb2 T C 14: 70,031,488 (GRCm39) T546A possibly damaging Het
Ripk4 A T 16: 97,545,342 (GRCm39) L372* probably null Het
Rnf126 A G 10: 79,594,971 (GRCm39) probably benign Het
S100pbp A G 4: 129,075,893 (GRCm39) V144A probably benign Het
Saal1 T C 7: 46,348,880 (GRCm39) Q317R probably damaging Het
Sap25 G A 5: 137,641,034 (GRCm39) G277R probably damaging Het
Senp2 C T 16: 21,832,949 (GRCm39) T79I probably damaging Het
Serpinb9c A T 13: 33,340,854 (GRCm39) C81* probably null Het
Set A G 2: 29,959,048 (GRCm39) K70E possibly damaging Het
Setd3 A G 12: 108,073,600 (GRCm39) I559T probably benign Het
Sik1 A G 17: 32,067,771 (GRCm39) S435P probably benign Het
Skint3 A T 4: 112,112,980 (GRCm39) K197* probably null Het
Skint5 T A 4: 113,727,897 (GRCm39) I402F possibly damaging Het
Slc18a1 G A 8: 69,496,613 (GRCm39) T350M probably damaging Het
Slc19a3 A T 1: 82,992,512 (GRCm39) I403K probably damaging Het
Slc1a7 C T 4: 107,861,636 (GRCm39) T225I probably benign Het
Slc38a4 T C 15: 96,906,606 (GRCm39) I336V probably benign Het
Smarcc1 A G 9: 109,947,411 (GRCm39) probably benign Het
St8sia5 A T 18: 77,342,459 (GRCm39) I390F probably damaging Het
Strc A T 2: 121,209,368 (GRCm39) W290R probably damaging Het
Svep1 T C 4: 58,084,554 (GRCm39) D1858G possibly damaging Het
Sympk G A 7: 18,777,454 (GRCm39) R568Q probably damaging Het
Tex44 A C 1: 86,354,728 (GRCm39) K212N probably damaging Het
Tgm4 T C 9: 122,890,835 (GRCm39) I54T probably damaging Het
Thrap3 C T 4: 126,073,967 (GRCm39) V260I probably damaging Het
Thsd7a A T 6: 12,318,105 (GRCm39) probably benign Het
Trim12c A G 7: 103,997,398 (GRCm39) F53L possibly damaging Het
Ttc6 T A 12: 57,784,479 (GRCm39) D1849E probably benign Het
Ubap2l A T 3: 89,938,683 (GRCm39) probably benign Het
Umodl1 G A 17: 31,227,740 (GRCm39) probably null Het
Usp17la A C 7: 104,510,378 (GRCm39) T328P probably damaging Het
Vmn2r113 T A 17: 23,177,223 (GRCm39) L669* probably null Het
Vps13b T A 15: 35,841,593 (GRCm39) V2541E probably damaging Het
Wnt3 T C 11: 103,703,111 (GRCm39) I198T probably damaging Het
Zfp316 T C 5: 143,249,161 (GRCm39) E158G unknown Het
Zfp362 T G 4: 128,680,780 (GRCm39) I182L possibly damaging Het
Zfp804a A G 2: 82,087,710 (GRCm39) D513G probably benign Het
Zfp879 C T 11: 50,723,428 (GRCm39) E543K probably benign Het
Zfp97 T A 17: 17,365,018 (GRCm39) N172K possibly damaging Het
Zmym6 A T 4: 126,982,208 (GRCm39) K82* probably null 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
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
R7549:Prl6a1 UTSW 13 27,502,954 (GRCm39) missense probably damaging 0.96
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'- GTGATTAGATTCAGCCTGGACC -3'
(R):5'- TGATACCTACAACTCCATACTAGTG -3'

Sequencing Primer
(F):5'- TGGACCCCCAGAAAATGAGAGATATC -3'
(R):5'- TGTATTACAGGGTGAAATGAGATGTC -3'
Posted On 2014-09-17