Incidental Mutation 'R2404:Pnma8a'
ID 248859
Institutional Source Beutler Lab
Gene Symbol Pnma8a
Ensembl Gene ENSMUSG00000041141
Gene Name PNMA family member 8A
Synonyms 0710005I19Rik, Pnmal1, 4930488B01Rik
MMRRC Submission 040370-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R2404 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 16693604-16698532 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16694316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 57 (N57I)
Ref Sequence ENSEMBL: ENSMUSP00000040929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038163]
AlphaFold Q80VM8
Predicted Effect probably damaging
Transcript: ENSMUST00000038163
AA Change: N57I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040929
Gene: ENSMUSG00000041141
AA Change: N57I

DomainStartEndE-ValueType
Pfam:PNMA 5 364 6.9e-108 PFAM
Meta Mutation Damage Score 0.8489 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.2%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,923 (GRCm39) T98A possibly damaging Het
Aifm2 A G 10: 61,563,974 (GRCm39) I161V probably benign Het
Arhgef26 T C 3: 62,336,336 (GRCm39) M625T possibly damaging Het
Atp9a T A 2: 168,517,283 (GRCm39) probably null Het
Avpr1a T C 10: 122,285,115 (GRCm39) F136L possibly damaging Het
Bcas3 T C 11: 85,245,715 (GRCm39) probably benign Het
Bnc1 A T 7: 81,618,463 (GRCm39) H867Q probably benign Het
Cdh12 C T 15: 21,537,720 (GRCm39) T407I probably damaging Het
Chd5 C T 4: 152,451,791 (GRCm39) T701M probably damaging Het
Dhx57 A G 17: 80,561,733 (GRCm39) V927A probably damaging Het
Dnah2 A G 11: 69,328,047 (GRCm39) F3353L probably damaging Het
Ect2 G A 3: 27,185,999 (GRCm39) P495S probably benign Het
Egfl7 G A 2: 26,479,162 (GRCm39) E25K possibly damaging Het
Gm5117 T C 8: 32,227,306 (GRCm39) noncoding transcript Het
Hbs1l A T 10: 21,171,946 (GRCm39) probably benign Het
Insrr C T 3: 87,709,974 (GRCm39) T309I possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif12 A C 4: 63,088,790 (GRCm39) L170R probably damaging Het
Krt90 A G 15: 101,463,105 (GRCm39) probably null Het
Mcu A G 10: 59,303,526 (GRCm39) S104P probably damaging Het
Mical3 G A 6: 120,936,789 (GRCm39) P374S probably benign Het
Ncam2 A T 16: 81,287,128 (GRCm39) probably benign Het
Or12e9 A G 2: 87,202,568 (GRCm39) I231V probably benign Het
Or2t47 A T 11: 58,442,546 (GRCm39) I173N probably damaging Het
Or2w1b T C 13: 21,300,012 (GRCm39) L50P probably damaging Het
Or5k17 G A 16: 58,745,998 (GRCm39) S312L probably benign Het
Otud7a A G 7: 63,346,899 (GRCm39) S158G probably benign Het
Phlpp1 C T 1: 106,100,569 (GRCm39) T279M probably benign Het
Pkhd1l1 T G 15: 44,414,216 (GRCm39) W2828G probably damaging Het
Ppp4r4 A G 12: 103,547,749 (GRCm39) probably null Het
Ptprq T C 10: 107,522,460 (GRCm39) Y531C probably damaging Het
Rai1 A G 11: 60,080,750 (GRCm39) T1605A probably benign Het
Satb2 T C 1: 56,987,267 (GRCm39) Y106C probably damaging Het
Sgms1 G A 19: 32,137,072 (GRCm39) R165* probably null Het
Slc19a3 T A 1: 83,000,756 (GRCm39) H87L probably benign Het
Slc4a7 G T 14: 14,733,733 (GRCm38) V54L probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spen T C 4: 141,205,216 (GRCm39) N1137S unknown Het
Spice1 T C 16: 44,186,989 (GRCm39) I162T probably benign Het
Spmip1 G A 6: 29,473,390 (GRCm39) R173Q probably benign Het
Sqor A T 2: 122,649,943 (GRCm39) T396S probably benign Het
Tshz3 A T 7: 36,469,805 (GRCm39) Q598L probably damaging Het
Ttc13 C T 8: 125,405,736 (GRCm39) probably benign Het
Ubxn2a T C 12: 4,933,851 (GRCm39) T187A probably benign Het
Usp28 T C 9: 48,948,558 (GRCm39) probably null Het
Zc3h12a T C 4: 125,013,316 (GRCm39) Y516C probably damaging Het
Zfp616 A C 11: 73,975,682 (GRCm39) K650N probably 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
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
R7756:Pnma8a UTSW 7 16,695,224 (GRCm39) missense probably benign 0.27
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'- TTTCACGAACAGGTAGAGCAG -3'
(R):5'- TCAAGAGGCGCACCATATCC -3'

Sequencing Primer
(F):5'- CAGAAAGATGTCGGAGCCC -3'
(R):5'- TTCGCCATCCAAGAATTCGTTCAG -3'
Posted On 2014-11-11