Incidental Mutation 'R4530:Pabir3'
ID 333097
Institutional Source Beutler Lab
Gene Symbol Pabir3
Ensembl Gene ENSMUSG00000036013
Gene Name PABIR family member 3
Synonyms 4930432H15Rik, Fam122c, 4930527G05Rik
MMRRC Submission 041770-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4530 (G1)
Quality Score 222
Status 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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 93% (37/40)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T C 14: 56,016,485 (GRCm39) D322G probably damaging Het
Akap9 T A 5: 4,093,948 (GRCm39) F2157I probably damaging Het
Arhgap42 T C 9: 9,011,433 (GRCm39) D451G probably damaging Het
Arhgef7 T C 8: 11,850,802 (GRCm39) M144T possibly damaging Het
Arid4b C A 13: 14,301,040 (GRCm39) T41N probably damaging Het
Axin1 T A 17: 26,407,146 (GRCm39) Y580N probably benign Het
Cdc27 T C 11: 104,419,252 (GRCm39) N227D possibly damaging Het
Cetn4 C T 3: 37,364,094 (GRCm39) V39I probably benign Het
Clec2h A G 6: 128,639,457 (GRCm39) D18G possibly damaging Het
Clec4e T C 6: 123,266,733 (GRCm39) probably benign Het
Cntnap4 T C 8: 113,584,842 (GRCm39) I1093T probably benign Het
Dner G T 1: 84,560,736 (GRCm39) N136K probably damaging Het
Gpr158 A G 2: 21,373,811 (GRCm39) S249G probably benign Het
Il16 A C 7: 83,330,518 (GRCm39) probably benign Het
Intu T G 3: 40,637,794 (GRCm39) C427G possibly damaging Het
Kif21a A C 15: 90,852,292 (GRCm39) probably null Het
Lin54 G A 5: 100,594,419 (GRCm39) T582I possibly damaging Het
Mroh7 T C 4: 106,577,634 (GRCm39) E348G possibly damaging Het
Or10g6 G A 9: 39,934,589 (GRCm39) R300K probably benign Het
Or2h1b C T 17: 37,462,498 (GRCm39) V122M possibly damaging Het
Or8g2b G T 9: 39,751,379 (GRCm39) M216I probably benign Het
Or8k38 T C 2: 86,487,905 (GRCm39) D299G probably benign Het
Plbd1 T A 6: 136,628,823 (GRCm39) I82F probably benign Het
Prss43 A T 9: 110,658,572 (GRCm39) M291L probably benign Het
Rap1gds1 T C 3: 138,663,186 (GRCm39) N338D probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Stip1 G T 19: 7,013,026 (GRCm39) N19K probably benign Het
Tat T A 8: 110,722,842 (GRCm39) F301L probably benign Het
Tmprss11a C A 5: 86,576,540 (GRCm39) V104L possibly damaging Het
Ttc3 T A 16: 94,267,736 (GRCm39) probably benign Het
Tubgcp3 G T 8: 12,713,932 (GRCm39) L62I probably damaging Het
Vcan A T 13: 89,852,147 (GRCm39) F938I probably damaging Het
Wrap73 A G 4: 154,241,164 (GRCm39) probably benign Het
Xndc1 C A 7: 101,727,942 (GRCm39) N85K probably benign Het
Zfp282 C T 6: 47,867,567 (GRCm39) P248S probably benign Het
Zfp930 C T 8: 69,681,483 (GRCm39) Q393* probably null 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
R4522: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
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'- TGCCATTGCTGCTGTACAC -3'
(R):5'- GTAATCGGCTATGACTGCTTTTAG -3'

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