Incidental Mutation 'R4517:Pabir3'
ID 332973
Institutional Source Beutler Lab
Gene Symbol Pabir3
Ensembl Gene ENSMUSG00000036013
Gene Name PABIR family member 3
Synonyms 4930432H15Rik, Fam122c, 4930527G05Rik
MMRRC Submission 041761-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4517 (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: 99.4%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 95% (39/41)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank A G 15: 27,562,835 (GRCm39) H181R possibly damaging Het
B4galnt4 A G 7: 140,647,635 (GRCm39) K408E probably damaging Het
Cd209a T A 8: 3,795,525 (GRCm39) D123V probably damaging Het
Cyp4f37 A G 17: 32,850,566 (GRCm39) I340V probably benign Het
Echs1 A G 7: 139,692,409 (GRCm39) S113P possibly damaging Het
Fap T C 2: 62,361,059 (GRCm39) I391V probably benign Het
Glb1l C T 1: 75,185,347 (GRCm39) C121Y probably damaging Het
Glod4 T A 11: 76,134,397 (GRCm39) D25V probably damaging Het
Gpc5 T A 14: 115,789,651 (GRCm39) N508K possibly damaging Het
H2-M10.3 C T 17: 36,678,722 (GRCm39) probably null Het
Ibsp C A 5: 104,453,863 (GRCm39) S67* probably null Het
Ifit1bl2 C T 19: 34,607,164 (GRCm39) probably benign Het
Iqgap2 A G 13: 95,800,569 (GRCm39) probably null Het
Kcnma1 A G 14: 23,387,097 (GRCm39) S982P probably damaging Het
Kif5b T C 18: 6,213,272 (GRCm39) S707G probably benign Het
Lrrk2 A G 15: 91,589,323 (GRCm39) I437V probably benign Het
Mapkbp1 T C 2: 119,855,545 (GRCm39) probably benign Het
Mcu T C 10: 59,303,456 (GRCm39) Y127C probably damaging Het
Mlst8 T C 17: 24,695,031 (GRCm39) Y284C probably damaging Het
Nr2f2 T G 7: 70,007,870 (GRCm39) N204T probably benign Het
Or13a26 A G 7: 140,285,004 (GRCm39) Y280C probably damaging Het
Or7a42 T A 10: 78,791,877 (GRCm39) Y279* probably null Het
Pcf11 T C 7: 92,295,696 (GRCm39) Y1451C probably damaging Het
Plekhn1 T C 4: 156,309,988 (GRCm39) S109G probably damaging Het
Rttn T C 18: 89,047,097 (GRCm39) S920P probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Tas2r135 A T 6: 42,383,013 (GRCm39) H184L probably benign Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn2r102 A G 17: 19,901,475 (GRCm39) Y534C probably damaging Het
Wdr62 A G 7: 29,969,683 (GRCm39) V259A probably damaging Het
Whrn A G 4: 63,379,517 (GRCm39) 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
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
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'- GTAATCGGCTATGACTGCTTTTAG -3'

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