Incidental Mutation 'R7756:Pnma8a'
ID 597550
Institutional Source Beutler Lab
Gene Symbol Pnma8a
Ensembl Gene ENSMUSG00000041141
Gene Name PNMA family member 8A
Synonyms 0710005I19Rik, Pnmal1, 4930488B01Rik
MMRRC Submission 045812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R7756 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 16693604-16698532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16695224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 360 (T360S)
Ref Sequence ENSEMBL: ENSMUSP00000040929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038163]
AlphaFold Q80VM8
Predicted Effect probably benign
Transcript: ENSMUST00000038163
AA Change: T360S

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000040929
Gene: ENSMUSG00000041141
AA Change: T360S

DomainStartEndE-ValueType
Pfam:PNMA 5 364 6.9e-108 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd60 T C 2: 173,410,562 (GRCm39) *319W probably null Het
Bpnt2 A T 4: 4,769,385 (GRCm39) H243Q probably damaging Het
Brd4 A G 17: 32,417,956 (GRCm39) I1157T unknown Het
Btbd2 T C 10: 80,484,440 (GRCm39) I159V probably benign Het
Card6 G A 15: 5,129,378 (GRCm39) Q673* probably null Het
Cdyl T A 13: 36,056,624 (GRCm39) Y585N probably damaging Het
Cep192 A C 18: 67,989,384 (GRCm39) I1844L possibly damaging Het
Cfap99 G T 5: 34,459,952 (GRCm39) C105F probably damaging Het
Clcn6 T C 4: 148,113,896 (GRCm39) D54G probably damaging Het
Dennd5a T C 7: 109,520,714 (GRCm39) N381S possibly damaging Het
Disp1 A C 1: 182,871,298 (GRCm39) V374G probably damaging Het
Dock4 C T 12: 40,760,878 (GRCm39) T522I probably benign Het
Fcer1a A G 1: 173,049,142 (GRCm39) L223P probably damaging Het
Fstl4 C A 11: 53,059,123 (GRCm39) D527E possibly damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Gm5460 A T 14: 33,757,114 (GRCm39) T64S probably benign Het
Gys1 T C 7: 45,097,726 (GRCm39) V491A probably benign Het
Hoxa9 A T 6: 52,202,542 (GRCm39) N181K probably benign Het
Ift81 A T 5: 122,689,088 (GRCm39) L676H probably damaging Het
Inava A G 1: 136,144,171 (GRCm39) S422P probably benign Het
Itga1 T A 13: 115,128,996 (GRCm39) D554V probably benign Het
Lin7c T A 2: 109,726,717 (GRCm39) I122K probably damaging Het
Malt1 A G 18: 65,606,190 (GRCm39) I622V probably benign Het
Megf8 T C 7: 25,041,850 (GRCm39) probably null Het
Morc2b A G 17: 33,355,981 (GRCm39) V597A probably damaging Het
Nr1h5 T C 3: 102,856,925 (GRCm39) I196V probably benign Het
Or10d4 T C 9: 39,580,371 (GRCm39) M6T probably benign Het
Or2a20 T A 6: 43,193,950 (GRCm39) Y34* probably null Het
Or8g2 T G 9: 39,821,621 (GRCm39) I174S possibly damaging Het
Pdlim1 G A 19: 40,231,986 (GRCm39) P131S probably benign Het
Plekhh1 T C 12: 79,117,578 (GRCm39) I858T probably benign Het
Pls1 T C 9: 95,658,897 (GRCm39) N197S probably benign Het
Pon1 A T 6: 5,168,344 (GRCm39) D354E probably benign Het
Rbp3 G A 14: 33,676,732 (GRCm39) V227M probably benign Het
Shcbp1 T C 8: 4,794,545 (GRCm39) K416R probably damaging Het
Slc20a2 T G 8: 23,025,508 (GRCm39) I70S probably damaging Het
Slc7a11 A G 3: 50,326,809 (GRCm39) I484T probably benign Het
Snrpa A G 7: 26,892,371 (GRCm39) V63A possibly damaging Het
Stat2 CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC 10: 128,126,597 (GRCm39) probably benign Het
Strc T C 2: 121,201,427 (GRCm39) E1259G probably benign Het
Suds3 T G 5: 117,253,802 (GRCm39) D26A unknown Het
Tnrc18 A G 5: 142,772,907 (GRCm39) S641P Het
Tspan32 A G 7: 142,570,959 (GRCm39) N189D probably benign Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 (GRCm39) probably benign Het
Usp40 G T 1: 87,894,922 (GRCm39) T866K probably damaging Het
Vmn1r220 G A 13: 23,367,877 (GRCm39) T273I probably benign Het
Yes1 C T 5: 32,842,024 (GRCm39) T516I probably damaging Het
Zbtb4 A G 11: 69,669,368 (GRCm39) E697G probably benign Het
Zfp994 T C 17: 22,419,828 (GRCm39) T374A possibly damaging Het
Other mutations in Pnma8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4737:Pnma8a UTSW 7 16,695,350 (GRCm39) small insertion probably benign
R0116:Pnma8a UTSW 7 16,694,625 (GRCm39) missense probably damaging 0.97
R0140:Pnma8a UTSW 7 16,694,147 (GRCm39) start codon destroyed probably null 0.00
R1109:Pnma8a UTSW 7 16,695,392 (GRCm39) nonsense probably null
R1306:Pnma8a UTSW 7 16,695,950 (GRCm39) missense probably benign 0.00
R1426:Pnma8a UTSW 7 16,694,909 (GRCm39) missense possibly damaging 0.56
R2000:Pnma8a UTSW 7 16,694,964 (GRCm39) missense probably benign 0.01
R2404:Pnma8a UTSW 7 16,694,316 (GRCm39) missense probably damaging 1.00
R3415:Pnma8a UTSW 7 16,694,879 (GRCm39) missense possibly damaging 0.74
R3708:Pnma8a UTSW 7 16,694,150 (GRCm39) missense probably damaging 1.00
R4009:Pnma8a UTSW 7 16,695,301 (GRCm39) missense probably damaging 1.00
R4105:Pnma8a UTSW 7 16,695,104 (GRCm39) missense possibly damaging 0.81
R5126:Pnma8a UTSW 7 16,695,242 (GRCm39) missense probably benign 0.03
R5244:Pnma8a UTSW 7 16,695,248 (GRCm39) missense probably damaging 0.99
R5825:Pnma8a UTSW 7 16,695,020 (GRCm39) missense probably benign 0.01
R5931:Pnma8a UTSW 7 16,694,809 (GRCm39) missense probably benign 0.31
R6128:Pnma8a UTSW 7 16,694,661 (GRCm39) missense probably benign 0.00
R7337:Pnma8a UTSW 7 16,695,315 (GRCm39) missense probably benign 0.35
R7758:Pnma8a UTSW 7 16,695,224 (GRCm39) missense probably benign 0.27
R8687:Pnma8a UTSW 7 16,694,520 (GRCm39) missense probably damaging 0.99
R8854:Pnma8a UTSW 7 16,695,104 (GRCm39) missense possibly damaging 0.81
RF007:Pnma8a UTSW 7 16,695,349 (GRCm39) small insertion probably benign
RF009:Pnma8a UTSW 7 16,695,352 (GRCm39) small insertion probably benign
RF020:Pnma8a UTSW 7 16,695,376 (GRCm39) small insertion probably benign
RF022:Pnma8a UTSW 7 16,695,352 (GRCm39) small insertion probably benign
RF029:Pnma8a UTSW 7 16,695,369 (GRCm39) nonsense probably null
RF039:Pnma8a UTSW 7 16,695,369 (GRCm39) small insertion probably benign
RF041:Pnma8a UTSW 7 16,695,369 (GRCm39) nonsense probably null
RF046:Pnma8a UTSW 7 16,695,348 (GRCm39) small insertion probably benign
RF047:Pnma8a UTSW 7 16,695,348 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- CCTTTGTGAAGCAGGAAGAGAC -3'
(R):5'- GTGCATTCACCTTTGGAGAC -3'

Sequencing Primer
(F):5'- TTTGTGAAGCAGGAAGAGACAGTATG -3'
(R):5'- CATTCACCTTTGGAGACTCGAGG -3'
Posted On 2019-11-26