Incidental Mutation 'R7497:Pnma8b'
ID 581130
Institutional Source Beutler Lab
Gene Symbol Pnma8b
Ensembl Gene ENSMUSG00000070802
Gene Name PNMA family member 8B
Synonyms Pnmal2, EG434128
MMRRC Submission 045570-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R7497 (G1)
Quality Score 130.008
Status Validated
Chromosome 7
Chromosomal Location 16678607-16682753 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to G at 16678874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000092401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094807]
AlphaFold G3X9N3
Predicted Effect probably benign
Transcript: ENSMUST00000094807
SMART Domains Protein: ENSMUSP00000092401
Gene: ENSMUSG00000070802

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T A 15: 91,075,379 (GRCm39) I145F probably benign Het
Acvr2b T A 9: 119,262,352 (GRCm39) V455E probably benign Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Agap2 T C 10: 126,926,834 (GRCm39) V977A probably damaging Het
Aph1b A C 9: 66,701,401 (GRCm39) S79A probably damaging Het
Atm G A 9: 53,423,191 (GRCm39) S645L probably benign Het
Cdh11 T C 8: 103,400,456 (GRCm39) R171G probably benign Het
Ces2f T A 8: 105,681,330 (GRCm39) D556E probably benign Het
Cfap210 A C 2: 69,588,792 (GRCm39) N439K probably benign Het
Cyp26b1 C A 6: 84,553,964 (GRCm39) V218L possibly damaging Het
Diaph1 T C 18: 38,028,353 (GRCm39) probably null Het
Dock1 A G 7: 134,367,003 (GRCm39) I482V probably benign Het
Dok4 A T 8: 95,594,053 (GRCm39) D47E possibly damaging Het
Dqx1 T A 6: 83,036,028 (GRCm39) L120Q probably damaging Het
Duxf3 A T 10: 58,066,558 (GRCm39) V157E probably damaging Het
Efcab3 T C 11: 104,653,516 (GRCm39) probably null Het
Eif2a C A 3: 58,456,102 (GRCm39) P367Q probably damaging Het
Elp2 C T 18: 24,744,985 (GRCm39) R102C probably damaging Het
Erich2 T C 2: 70,364,666 (GRCm39) S347P probably damaging Het
Fgfr3 GGACCTCTCCGTG GG 5: 33,892,766 (GRCm39) probably null Het
Flacc1 T A 1: 58,717,467 (GRCm39) D148V probably damaging Het
Gadl1 A T 9: 115,903,155 (GRCm39) I495L probably benign Het
Gcnt4 A G 13: 97,083,468 (GRCm39) T255A possibly damaging Het
Gm10972 A G 3: 94,550,887 (GRCm39) K21E unknown Het
Gm57859 T A 11: 113,583,223 (GRCm39) W517R probably damaging Het
Gm7361 C A 5: 26,466,188 (GRCm39) H183Q probably benign Het
Gp2 C T 7: 119,053,829 (GRCm39) C44Y probably damaging Het
Hcar2 C T 5: 124,003,249 (GRCm39) V85I probably benign Het
Hira T C 16: 18,770,829 (GRCm39) V822A probably damaging Het
Ighv1-5 T A 12: 114,477,156 (GRCm39) T49S probably damaging Het
Ints1 C T 5: 139,754,731 (GRCm39) V603M probably damaging Het
Kdm2a A C 19: 4,374,404 (GRCm39) L909R probably damaging Het
Klkb1 T A 8: 45,747,827 (GRCm39) probably benign Het
Krit1 A G 5: 3,862,349 (GRCm39) H168R possibly damaging Het
Map3k21 A T 8: 126,654,340 (GRCm39) E386D probably damaging Het
Muc16 C T 9: 18,556,385 (GRCm39) E3303K unknown Het
Muc5b T G 7: 141,415,250 (GRCm39) V2732G possibly damaging Het
Myo5a T C 9: 75,104,983 (GRCm39) L189P Het
Nlrc5 T C 8: 95,248,598 (GRCm39) L1740S probably damaging Het
Nolc1 A G 19: 46,071,257 (GRCm39) K402R probably benign Het
Or4b1b T A 2: 90,112,098 (GRCm39) T274S possibly damaging Het
Or4k15 T A 14: 50,364,952 (GRCm39) L306Q probably benign Het
Or52s19 T C 7: 103,008,219 (GRCm39) M61V probably damaging Het
Or8u8 T C 2: 86,012,417 (GRCm39) I13V probably benign Het
Pnpt1 A T 11: 29,080,860 (GRCm39) M35L probably benign Het
Postn A G 3: 54,270,091 (GRCm39) K57E probably damaging Het
Ppp1r9a A C 6: 4,905,775 (GRCm39) D110A probably damaging Het
Pptc7 G A 5: 122,422,942 (GRCm39) V71M possibly damaging Het
Prdm11 T A 2: 92,843,052 (GRCm39) I136F possibly damaging Het
Rfc1 A G 5: 65,436,841 (GRCm39) L613P probably damaging Het
Ryr3 T C 2: 112,560,818 (GRCm39) D2981G probably benign Het
Sbf2 C A 7: 110,213,923 (GRCm39) E16* probably null Het
Scara3 T C 14: 66,168,651 (GRCm39) E322G probably damaging Het
Sema5b T A 16: 35,481,700 (GRCm39) C893S probably damaging Het
Setdb1 T C 3: 95,249,139 (GRCm39) D323G probably damaging Het
Slc19a3 T C 1: 82,991,649 (GRCm39) Y453C probably damaging Het
Snx5 T C 2: 144,099,894 (GRCm39) K137E probably damaging Het
Taar8c G A 10: 23,977,116 (GRCm39) T232I probably benign Het
Taok2 G A 7: 126,474,050 (GRCm39) T352I probably damaging Het
Ttc3 C A 16: 94,219,541 (GRCm39) R489S possibly damaging Het
Usp12 A T 5: 146,689,264 (GRCm39) probably null Het
Usp16 T A 16: 87,263,174 (GRCm39) C125* probably null Het
Vmn2r106 C T 17: 20,488,201 (GRCm39) E733K probably damaging Het
Vps13b T A 15: 35,876,843 (GRCm39) I2832K probably benign Het
Vps13c A G 9: 67,747,761 (GRCm39) Y18C probably damaging Het
Zfp160 T A 17: 21,246,455 (GRCm39) I335K probably benign Het
Zfp788 A T 7: 41,298,275 (GRCm39) I304F possibly damaging 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
R5943:Pnma8b UTSW 7 16,680,362 (GRCm39) missense probably benign 0.25
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
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'- TGTTACTATGGAGACGGGGAC -3'
(R):5'- CAATCTTGCAGAAGGTTCATCG -3'

Sequencing Primer
(F):5'- ACCAGGTGCGTTGATCGTC -3'
(R):5'- CAGAAGGTTCATCGTCATGGC -3'
Posted On 2019-10-17