Incidental Mutation 'R5943:Pnma8b'
ID 460416
Institutional Source Beutler Lab
Gene Symbol Pnma8b
Ensembl Gene ENSMUSG00000070802
Gene Name PNMA family member 8B
Synonyms Pnmal2, EG434128
MMRRC Submission 044135-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R5943 (G1)
Quality Score 146
Status Not validated
Chromosome 7
Chromosomal Location 16678607-16682753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16680362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 449 (S449P)
Ref Sequence ENSEMBL: ENSMUSP00000092401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094807]
AlphaFold G3X9N3
Predicted Effect probably benign
Transcript: ENSMUST00000094807
AA Change: S449P

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092401
Gene: ENSMUSG00000070802
AA Change: S449P

DomainStartEndE-ValueType
Pfam:PNMA 1 152 4.1e-36 PFAM
low complexity region 172 196 N/A INTRINSIC
internal_repeat_1 239 296 1.86e-6 PROSPERO
SCOP:d1qbkb_ 309 331 2e-3 SMART
internal_repeat_1 343 402 1.86e-6 PROSPERO
low complexity region 445 454 N/A INTRINSIC
low complexity region 466 475 N/A INTRINSIC
low complexity region 483 498 N/A INTRINSIC
low complexity region 518 551 N/A INTRINSIC
low complexity region 571 596 N/A INTRINSIC
low complexity region 612 636 N/A INTRINSIC
low complexity region 646 659 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C A 17: 45,828,637 (GRCm39) Q671K probably benign Het
Acaa2 A G 18: 74,925,453 (GRCm39) H72R probably damaging Het
Acad8 A G 9: 26,910,740 (GRCm39) L18P probably benign Het
Acap3 T C 4: 155,983,879 (GRCm39) V115A possibly damaging Het
Adamts9 T C 6: 92,880,767 (GRCm39) T503A probably benign Het
Adcy1 T C 11: 7,111,337 (GRCm39) F876S probably damaging Het
Adgrv1 T C 13: 81,534,985 (GRCm39) E5760G probably damaging Het
Ankrd26 A T 6: 118,482,707 (GRCm39) I1631K probably damaging Het
Ccdc150 A G 1: 54,339,526 (GRCm39) T457A probably benign Het
Cd163 T C 6: 124,306,561 (GRCm39) *1160R probably null Het
Cdc6 T C 11: 98,811,589 (GRCm39) S517P probably damaging Het
Cenpf A T 1: 189,392,166 (GRCm39) D555E possibly damaging Het
Cfap251 A G 5: 123,424,420 (GRCm39) T205A probably benign Het
Clcn1 T A 6: 42,269,900 (GRCm39) I241N probably damaging Het
Clrn2 A T 5: 45,621,061 (GRCm39) I152F probably benign Het
Col4a4 A G 1: 82,502,737 (GRCm39) I349T unknown Het
Coq8b T A 7: 26,933,428 (GRCm39) F96L probably damaging Het
Cp A T 3: 20,018,470 (GRCm39) N58I probably benign Het
Dcst1 A T 3: 89,263,718 (GRCm39) probably null Het
Dhrs3 A T 4: 144,646,546 (GRCm39) M199L possibly damaging Het
Dido1 A T 2: 180,303,675 (GRCm39) S1410T probably benign Het
Dnase1l2 C T 17: 24,661,721 (GRCm39) A13T probably damaging Het
Duox1 G A 2: 122,163,916 (GRCm39) R861Q probably benign Het
Eya2 A G 2: 165,566,609 (GRCm39) H220R probably damaging Het
Fas T G 19: 34,297,987 (GRCm39) probably null Het
Fezf1 T A 6: 23,246,948 (GRCm39) K295* probably null Het
Gldn T G 9: 54,245,721 (GRCm39) I424R possibly damaging Het
Gnptab T C 10: 88,269,376 (GRCm39) V693A probably benign Het
Gsdma A T 11: 98,563,852 (GRCm39) T269S probably benign Het
Hectd4 A T 5: 121,460,357 (GRCm39) T2209S probably benign Het
Hoxd3 A G 2: 74,577,173 (GRCm39) N351S probably benign Het
Itpkc T A 7: 26,912,404 (GRCm39) N581I possibly damaging Het
Kank3 G T 17: 34,037,375 (GRCm39) E226D probably damaging Het
Krtap5-1 A G 7: 141,850,788 (GRCm39) S7P unknown Het
Lrriq3 A G 3: 154,869,587 (GRCm39) Y304C probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mdn1 T C 4: 32,678,330 (GRCm39) S653P probably damaging Het
Mri1 A T 8: 84,980,948 (GRCm39) L194* probably null Het
Mtus1 T C 8: 41,537,302 (GRCm39) E138G probably benign Het
Myo3b G A 2: 70,117,285 (GRCm39) R906Q probably benign Het
Nckipsd C T 9: 108,689,435 (GRCm39) P199S possibly damaging Het
Or52n5 T A 7: 104,587,850 (GRCm39) I39N possibly damaging Het
Or9i16 C T 19: 13,865,116 (GRCm39) V153I possibly damaging Het
Pacsin1 T C 17: 27,925,045 (GRCm39) L253P probably damaging Het
Pcca T A 14: 122,896,188 (GRCm39) I268N probably damaging Het
Pcdhga8 A G 18: 37,949,565 (GRCm39) D327G probably damaging Het
Pcnx4 A G 12: 72,626,232 (GRCm39) H1146R probably damaging Het
Psmb9 T C 17: 34,403,265 (GRCm39) E61G probably damaging Het
Pxylp1 A G 9: 96,721,203 (GRCm39) Y101H probably damaging Het
Radil A G 5: 142,471,213 (GRCm39) I1044T probably damaging Het
Rnf43 G A 11: 87,622,561 (GRCm39) R554H probably damaging Het
Sp5 A T 2: 70,305,659 (GRCm39) Q17L probably null Het
Spmip1 T A 6: 29,471,908 (GRCm39) L128Q possibly damaging Het
Strn C A 17: 78,977,276 (GRCm39) V211F probably damaging Het
Sult3a1 A G 10: 33,742,637 (GRCm39) D88G probably damaging Het
Trim14 T C 4: 46,522,136 (GRCm39) I180M probably benign Het
Tsnax C A 8: 125,751,278 (GRCm39) S90* probably null Het
Ttn A G 2: 76,798,780 (GRCm39) M498T probably benign Het
Vmn1r198 T A 13: 22,539,367 (GRCm39) Y195* probably null Het
Vmn2r70 T C 7: 85,215,199 (GRCm39) T112A probably benign Het
Wwc2 T C 8: 48,443,137 (GRCm39) N32S possibly damaging Het
Yme1l1 G T 2: 23,058,342 (GRCm39) R158L probably damaging Het
Zc2hc1c C A 12: 85,336,483 (GRCm39) H47N probably damaging Het
Zc3h10 C A 10: 128,381,396 (GRCm39) probably benign Het
Zfp825 T C 13: 74,629,007 (GRCm39) R170G probably benign Het
Other mutations in Pnma8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Pnma8b APN 7 16,679,088 (GRCm39) missense unknown
IGL02023:Pnma8b APN 7 16,679,616 (GRCm39) missense probably damaging 0.97
FR4737:Pnma8b UTSW 7 16,679,931 (GRCm39) small deletion probably benign
R0085:Pnma8b UTSW 7 16,679,474 (GRCm39) missense unknown
R2069:Pnma8b UTSW 7 16,679,714 (GRCm39) missense probably damaging 0.99
R2151:Pnma8b UTSW 7 16,679,837 (GRCm39) missense probably benign 0.00
R2321:Pnma8b UTSW 7 16,679,490 (GRCm39) missense unknown
R2929:Pnma8b UTSW 7 16,680,617 (GRCm39) missense possibly damaging 0.93
R3738:Pnma8b UTSW 7 16,680,521 (GRCm39) missense probably benign 0.00
R3739:Pnma8b UTSW 7 16,680,521 (GRCm39) missense probably benign 0.00
R5185:Pnma8b UTSW 7 16,679,901 (GRCm39) missense probably damaging 1.00
R5259:Pnma8b UTSW 7 16,679,199 (GRCm39) missense unknown
R5908:Pnma8b UTSW 7 16,680,968 (GRCm39) missense unknown
R6101:Pnma8b UTSW 7 16,680,493 (GRCm39) missense probably benign 0.20
R6260:Pnma8b UTSW 7 16,680,158 (GRCm39) missense probably benign 0.03
R6583:Pnma8b UTSW 7 16,679,844 (GRCm39) missense probably damaging 0.97
R7007:Pnma8b UTSW 7 16,680,181 (GRCm39) missense possibly damaging 0.68
R7497:Pnma8b UTSW 7 16,678,874 (GRCm39) start gained probably benign
R8231:Pnma8b UTSW 7 16,680,515 (GRCm39) missense probably benign 0.01
R8278:Pnma8b UTSW 7 16,680,263 (GRCm39) missense probably damaging 0.99
R8685:Pnma8b UTSW 7 16,679,965 (GRCm39) missense unknown
R9211:Pnma8b UTSW 7 16,679,589 (GRCm39) missense unknown
R9236:Pnma8b UTSW 7 16,679,964 (GRCm39) missense unknown
R9245:Pnma8b UTSW 7 16,680,843 (GRCm39) missense probably benign 0.19
R9267:Pnma8b UTSW 7 16,679,159 (GRCm39) missense unknown
RF003:Pnma8b UTSW 7 16,679,941 (GRCm39) small insertion probably benign
Z1176:Pnma8b UTSW 7 16,680,735 (GRCm39) missense possibly damaging 0.93
Z1177:Pnma8b UTSW 7 16,680,893 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGATGTCCTTCCTCAAGTCCTG -3'
(R):5'- TCTAGATTCTCCTGGGAGGC -3'

Sequencing Primer
(F):5'- AAGTCCTGTCCGTCATGGCTAAG -3'
(R):5'- TCAGATAAACCACCTTGGCTATGGTC -3'
Posted On 2017-02-28