Incidental Mutation 'R4522:Pabir3'
ID 334282
Institutional Source Beutler Lab
Gene Symbol Pabir3
Ensembl Gene ENSMUSG00000036013
Gene Name PABIR family member 3
Synonyms 4930432H15Rik, Fam122c, 4930527G05Rik
MMRRC Submission 041765-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4522 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 52362301-52420062 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 52382376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 94 (R94H)
Ref Sequence ENSEMBL: ENSMUSP00000139776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114835] [ENSMUST00000124137] [ENSMUST00000186314]
AlphaFold Q9D5J5
Predicted Effect possibly damaging
Transcript: ENSMUST00000114835
AA Change: R94H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000124137
AA Change: R94H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000186314
AA Change: R94H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Babam2 G A 5: 32,164,586 (GRCm39) V287M probably damaging Het
Brip1 T C 11: 86,080,627 (GRCm39) I146M possibly damaging Het
Cacna1b C T 2: 24,544,442 (GRCm39) R1248H probably damaging Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Cfap47 A T X: 78,553,601 (GRCm39) N291K possibly damaging Het
Chaf1b G A 16: 93,698,183 (GRCm39) A485T probably benign Het
Dock7 T C 4: 98,850,461 (GRCm39) R1594G probably damaging Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Gm3739 T A 14: 18,505,267 (GRCm39) K86* probably null Het
Mark2 A T 19: 7,263,313 (GRCm39) D151E probably damaging Het
Nop2 G T 6: 125,110,515 (GRCm39) R47L probably damaging Het
Nwd1 A T 8: 73,397,579 (GRCm39) D606V probably damaging Het
Or8w1 T A 2: 87,465,495 (GRCm39) I199L probably benign Het
Pcbp1 T C 6: 86,502,032 (GRCm39) N289S probably benign Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Ptpn18 T C 1: 34,512,041 (GRCm39) L55P probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec23b T A 2: 144,420,286 (GRCm39) I450N possibly damaging Het
Speg A G 1: 75,404,974 (GRCm39) E2922G probably damaging Het
Spem1 C A 11: 69,712,631 (GRCm39) probably null Het
Stxbp3-ps A T 19: 9,536,474 (GRCm39) noncoding transcript Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Tmod2 T C 9: 75,499,866 (GRCm39) T129A probably benign Het
Ttc28 A G 5: 111,428,038 (GRCm39) T1845A probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Ush2a C T 1: 188,596,822 (GRCm39) T3854M probably damaging Het
Vmn2r72 T A 7: 85,401,134 (GRCm39) H95L probably benign Het
Xdh C A 17: 74,205,339 (GRCm39) G1042V probably damaging Het
Zfp105 T A 9: 122,759,121 (GRCm39) V264E possibly damaging Het
Other mutations in Pabir3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4198:Pabir3 UTSW X 52,382,376 (GRCm39) missense possibly damaging 0.94
R4199:Pabir3 UTSW X 52,382,376 (GRCm39) missense possibly damaging 0.94
R4361:Pabir3 UTSW X 52,382,376 (GRCm39) missense possibly damaging 0.94
R4515:Pabir3 UTSW X 52,382,376 (GRCm39) missense possibly damaging 0.94
R4517:Pabir3 UTSW X 52,382,376 (GRCm39) missense possibly damaging 0.94
R4518:Pabir3 UTSW X 52,382,376 (GRCm39) missense possibly damaging 0.94
R4519:Pabir3 UTSW X 52,382,376 (GRCm39) missense possibly damaging 0.94
R4523:Pabir3 UTSW X 52,382,376 (GRCm39) missense possibly damaging 0.94
R4529:Pabir3 UTSW X 52,382,376 (GRCm39) missense possibly damaging 0.94
R4530:Pabir3 UTSW X 52,382,376 (GRCm39) missense possibly damaging 0.94
R4532:Pabir3 UTSW X 52,382,376 (GRCm39) missense possibly damaging 0.94
R4533:Pabir3 UTSW X 52,382,376 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CATTGCTGCTGTACACTCAATAAG -3'
(R):5'- TGTAATCGGCTATGACTGCTTTTAG -3'

Sequencing Primer
(F):5'- GAATCAGGGTTTCTCTGTATAGCCC -3'
(R):5'- AAGCCTCCTGATGATGACCTG -3'
Posted On 2015-08-18