Incidental Mutation 'R6680:Btnl12'
ID 527468
Institutional Source Beutler Lab
Gene Symbol Btnl12
Ensembl Gene ENSMUSG00000108763
Gene Name butyrophilin-like 12
Synonyms Gm36028
MMRRC Submission 044799-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R6680 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 37671275-37681508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37676536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 77 (D77G)
Ref Sequence ENSEMBL: ENSMUSP00000146040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000205931]
AlphaFold A0A0U1RPM1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205465
Predicted Effect probably benign
Transcript: ENSMUST00000205931
AA Change: D77G

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A G 17: 56,098,959 (GRCm39) K155R probably benign Het
Ankrd31 T A 13: 96,967,117 (GRCm39) probably null Het
AW011738 A G 4: 156,288,182 (GRCm39) probably benign Het
Ccl3 A G 11: 83,539,132 (GRCm39) S76P probably benign Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dnaaf10 T C 11: 17,179,857 (GRCm39) L286P probably damaging Het
Fat2 G T 11: 55,201,684 (GRCm39) Y463* probably null Het
Frem3 A G 8: 81,395,949 (GRCm39) T1915A probably damaging Het
Hspg2 A G 4: 137,293,048 (GRCm39) Q4162R probably benign Het
Krt87 C T 15: 101,331,859 (GRCm39) R293H probably damaging Het
Mipep A G 14: 61,025,672 (GRCm39) I143V possibly damaging Het
Mrc2 C T 11: 105,216,579 (GRCm39) R123C probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Ndc80 T C 17: 71,824,540 (GRCm39) K223R probably null Het
Nudt16l2 A G 9: 105,020,773 (GRCm39) S163P probably damaging Het
Nuf2 A C 1: 169,342,578 (GRCm39) probably null Het
Omd T C 13: 49,743,004 (GRCm39) V18A possibly damaging Het
Or51a39 T A 7: 102,363,522 (GRCm39) I33F possibly damaging Het
Or8g21 T C 9: 38,905,954 (GRCm39) Y259C probably damaging Het
Or8k53 T A 2: 86,177,589 (GRCm39) I174F probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Shank2 A G 7: 143,974,603 (GRCm39) S1384G probably damaging Het
Slc22a28 A G 19: 8,078,757 (GRCm39) S311P probably benign Het
Sox6 C T 7: 115,076,218 (GRCm39) E765K possibly damaging Het
Tas2r106 A T 6: 131,655,437 (GRCm39) I138K probably damaging Het
Tbx15 T A 3: 99,220,389 (GRCm39) Y54* probably null Het
Tulp4 T G 17: 6,189,312 (GRCm39) W45G probably damaging Het
Ugt3a1 T C 15: 9,370,154 (GRCm39) Y433H probably damaging Het
Usp13 T C 3: 32,935,618 (GRCm39) V348A probably damaging Het
Vezf1 T C 11: 87,972,410 (GRCm39) I439T probably benign Het
Vmn2r93 C A 17: 18,536,920 (GRCm39) Y534* probably null Het
Zfp579 A G 7: 4,996,501 (GRCm39) L470P probably damaging Het
Zfp598 A G 17: 24,897,660 (GRCm39) N327S probably benign Het
Zscan4d A T 7: 10,896,366 (GRCm39) S335T possibly damaging Het
Other mutations in Btnl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6045:Btnl12 UTSW 16 37,676,384 (GRCm39) missense probably benign 0.02
R6178:Btnl12 UTSW 16 37,676,422 (GRCm39) missense probably damaging 1.00
RF009:Btnl12 UTSW 16 37,674,841 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCAATCTCACTCTGGTCCAC -3'
(R):5'- ACAGTTCTCCAGCCTTCTAGTG -3'

Sequencing Primer
(F):5'- CATATAAGGCATTCTGGTCTTCGAG -3'
(R):5'- GCCTTCTAGTGATTTTATAACCAGC -3'
Posted On 2018-07-23