Incidental Mutation 'R5837:Pramef6'
ID449639
Institutional Source Beutler Lab
Gene Symbol Pramef6
Ensembl Gene ENSMUSG00000078512
Gene NamePRAME family member 6
SynonymsGm13099
MMRRC Submission 044057-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #R5837 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location143894237-143900380 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 143896920 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 228 (V228A)
Ref Sequence ENSEMBL: ENSMUSP00000080350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081645] [ENSMUST00000105767]
Predicted Effect probably benign
Transcript: ENSMUST00000081645
AA Change: V228A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000080350
Gene: ENSMUSG00000078512
AA Change: V228A

DomainStartEndE-ValueType
SCOP:d1a4ya_ 204 412 6e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105767
AA Change: V228A

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101393
Gene: ENSMUSG00000078512
AA Change: V228A

DomainStartEndE-ValueType
SCOP:d1a4ya_ 204 412 1e-11 SMART
Meta Mutation Damage Score 0.1132 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,433,359 R113Q probably benign Het
Ank1 A G 8: 23,104,790 N605D probably damaging Het
Apob A G 12: 8,003,277 M1240V probably benign Het
Atf1 T A 15: 100,254,384 I86N probably damaging Het
Best1 T A 19: 9,989,119 probably null Het
Bet1l C A 7: 140,854,781 R51L probably benign Het
Bpifa5 A G 2: 154,163,678 Y60C probably damaging Het
Ccdc141 G T 2: 77,108,437 Q275K possibly damaging Het
Cep295 T A 9: 15,346,984 H241L probably damaging Het
Commd7 A G 2: 153,629,224 V36A possibly damaging Het
Cyld G A 8: 88,741,404 S555N probably damaging Het
Cyp2j13 A T 4: 96,071,682 I79N probably damaging Het
Dact2 A G 17: 14,196,253 S562P probably damaging Het
Diexf A T 1: 193,118,393 F373Y probably damaging Het
Dnajc13 T A 9: 104,176,666 I1664F possibly damaging Het
Ehmt1 A G 2: 24,863,914 V277A probably damaging Het
Fbn1 A T 2: 125,379,134 probably null Het
Galnt6 G A 15: 100,694,646 T560M possibly damaging Het
Glra1 G T 11: 55,536,507 probably null Het
Gm10762 C T 2: 128,967,157 probably benign Het
Greb1 C T 12: 16,688,585 R1459H probably damaging Het
Ift140 A G 17: 25,089,540 K1048E probably damaging Het
Ilk T C 7: 105,741,171 probably null Het
Lgi4 C T 7: 31,070,783 probably benign Het
Loxhd1 A G 18: 77,286,409 T59A possibly damaging Het
Lzic G T 4: 149,486,000 probably null Het
Mef2d A G 3: 88,161,781 T286A probably benign Het
Mycbp2 C A 14: 103,124,403 C4447F probably damaging Het
Ncoa2 A G 1: 13,224,706 probably benign Het
Nolc1 T C 19: 46,083,183 probably benign Het
Npl T C 1: 153,503,525 T271A probably benign Het
Nudt1 A G 5: 140,334,540 R25G probably damaging Het
Nudt19 T C 7: 35,551,636 E226G possibly damaging Het
Oc90 T C 15: 65,876,446 D405G probably benign Het
Olfr1111 A T 2: 87,150,355 F102Y probably benign Het
Olfr1491 T A 19: 13,704,960 C44* probably null Het
Olfr376 A G 11: 73,375,648 M300V probably benign Het
Olfr826 A T 10: 130,180,397 L161H probably damaging Het
Pcdhb1 T C 18: 37,265,827 I277T possibly damaging Het
Pcdhb9 C A 18: 37,402,798 A615E probably damaging Het
Phrf1 C G 7: 141,260,061 D1056E probably benign Het
Phyhip C A 14: 70,467,010 A223E probably damaging Het
Polr2h T A 16: 20,717,932 I4N probably damaging Het
Ppp1r12c C A 7: 4,497,404 probably benign Het
Psg17 T A 7: 18,820,215 T37S possibly damaging Het
Ptprz1 T C 6: 23,001,418 V1169A probably benign Het
Rabgap1l T C 1: 160,307,222 probably benign Het
Rapgef3 C T 15: 97,757,342 probably benign Het
Rbp3 C A 14: 33,954,273 H59Q probably benign Het
Robo3 T A 9: 37,429,816 probably null Het
Slco4c1 C T 1: 96,818,982 E712K probably benign Het
Ssh3 T C 19: 4,266,400 T168A probably benign Het
Stoml2 G T 4: 43,028,989 N248K probably damaging Het
Tmigd1 A G 11: 76,916,085 probably benign Het
Tnc T A 4: 64,013,214 D753V probably damaging Het
Tnik A T 3: 28,668,053 probably benign Het
Treml1 A G 17: 48,360,152 S22G possibly damaging Het
Trmt2a C T 16: 18,249,462 probably benign Het
Ttn T C 2: 76,717,374 T32151A probably damaging Het
Vmn1r67 T C 7: 10,447,022 I10T probably benign Het
Vmn2r116 T C 17: 23,387,080 F322S probably damaging Het
Wdr19 A G 5: 65,202,957 D35G probably benign Het
Zfp365 A T 10: 67,889,040 H339Q probably damaging Het
Zfp677 A T 17: 21,397,386 H235L probably damaging Het
Zpbp2 G A 11: 98,551,271 probably benign Het
Other mutations in Pramef6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01704:Pramef6 APN 4 143895631 missense probably benign
IGL01917:Pramef6 APN 4 143897714 missense probably benign 0.15
IGL02222:Pramef6 APN 4 143895846 missense possibly damaging 0.94
IGL02315:Pramef6 APN 4 143897928 start gained probably benign
R0488:Pramef6 UTSW 4 143895403 missense probably benign 0.00
R0755:Pramef6 UTSW 4 143897729 missense probably damaging 0.96
R0972:Pramef6 UTSW 4 143896963 missense probably benign 0.02
R1444:Pramef6 UTSW 4 143896891 missense probably benign 0.01
R1551:Pramef6 UTSW 4 143895693 missense probably benign 0.00
R1907:Pramef6 UTSW 4 143895491 missense possibly damaging 0.89
R2068:Pramef6 UTSW 4 143896912 missense probably damaging 1.00
R2182:Pramef6 UTSW 4 143897190 missense possibly damaging 0.60
R2246:Pramef6 UTSW 4 143897220 missense probably benign 0.19
R4483:Pramef6 UTSW 4 143895840 missense probably damaging 1.00
R5123:Pramef6 UTSW 4 143897136 missense probably benign 0.00
R5291:Pramef6 UTSW 4 143895667 missense probably damaging 1.00
R5643:Pramef6 UTSW 4 143895767 missense probably damaging 0.98
R5683:Pramef6 UTSW 4 143895853 missense probably damaging 1.00
R5836:Pramef6 UTSW 4 143896920 missense probably benign 0.30
R5838:Pramef6 UTSW 4 143896920 missense probably benign 0.30
R5853:Pramef6 UTSW 4 143896920 missense probably benign 0.30
R6340:Pramef6 UTSW 4 143897307 missense possibly damaging 0.69
R6572:Pramef6 UTSW 4 143895373 missense possibly damaging 0.79
R6791:Pramef6 UTSW 4 143895682 missense probably benign 0.02
R6972:Pramef6 UTSW 4 143896902 missense probably damaging 1.00
R7265:Pramef6 UTSW 4 143895421 missense probably benign 0.00
R7307:Pramef6 UTSW 4 143896775 nonsense probably null
R7342:Pramef6 UTSW 4 143896950 missense probably benign 0.26
R7361:Pramef6 UTSW 4 143895886 missense possibly damaging 0.88
R7480:Pramef6 UTSW 4 143895495 missense probably benign
Predicted Primers PCR Primer
(F):5'- CACCCTTGGATAAAGCTCTCTC -3'
(R):5'- ATTTGTATCGGTGGGCCAAG -3'

Sequencing Primer
(F):5'- ACCTGAGCATTTGGTCCAG -3'
(R):5'- TATCGGTGGGCCAAGGAGAG -3'
Posted On2016-12-20