Incidental Mutation 'R6259:Cyp2b19'
ID 506551
Institutional Source Beutler Lab
Gene Symbol Cyp2b19
Ensembl Gene ENSMUSG00000066704
Gene Name cytochrome P450, family 2, subfamily b, polypeptide 19
Synonyms
MMRRC Submission 044376-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R6259 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 26456567-26472055 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26470817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 486 (Q486L)
Ref Sequence ENSEMBL: ENSMUSP00000077021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077855]
AlphaFold O55071
Predicted Effect possibly damaging
Transcript: ENSMUST00000077855
AA Change: Q486L

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: Q486L

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:p450 32 489 8.7e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138018
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C A 12: 18,584,120 (GRCm39) N393K probably benign Het
Acap3 A T 4: 155,980,575 (GRCm39) I19F possibly damaging Het
Acsbg3 A G 17: 57,184,513 (GRCm39) Y96C probably benign Het
Adamts5 C T 16: 85,696,641 (GRCm39) R172H probably benign Het
Adgra3 A G 5: 50,156,483 (GRCm39) F416L possibly damaging Het
Amy1 T C 3: 113,363,059 (GRCm39) D96G possibly damaging Het
Ank2 A G 3: 126,810,635 (GRCm39) S484P probably benign Het
Arsa A G 15: 89,359,724 (GRCm39) C68R probably damaging Het
Asprv1 A G 6: 86,605,361 (GRCm39) Y69C probably benign Het
Ass1 A G 2: 31,378,654 (GRCm39) E162G possibly damaging Het
Atf7 G T 15: 102,455,673 (GRCm39) N230K probably damaging Het
Atp10b A G 11: 43,092,065 (GRCm39) M367V probably benign Het
Atp11b A G 3: 35,861,050 (GRCm39) Y179C probably damaging Het
BC004004 A T 17: 29,517,686 (GRCm39) Q300L possibly damaging Het
Bglap3 A T 3: 88,276,067 (GRCm39) I95N probably damaging Het
Cacna1h T C 17: 25,616,630 (GRCm39) probably null Het
Caskin2 C T 11: 115,691,279 (GRCm39) G1141D probably damaging Het
Clcn4 G A 7: 7,294,529 (GRCm39) R351W possibly damaging Het
Col11a1 T C 3: 113,932,096 (GRCm39) C89R probably benign Het
Csrp1 T G 1: 135,667,252 (GRCm39) probably null Het
Cwf19l2 T C 9: 3,458,879 (GRCm39) I776T probably damaging Het
Cyp2j9 T A 4: 96,472,243 (GRCm39) Y165F probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dennd1c G A 17: 57,374,104 (GRCm39) R522C probably damaging Het
Dmgdh T C 13: 93,888,816 (GRCm39) V818A probably benign Het
Dst T A 1: 34,221,477 (GRCm39) V2427E probably benign Het
Duox1 C T 2: 122,175,264 (GRCm39) T1354M probably benign Het
Ehbp1 A G 11: 22,235,684 (GRCm39) probably benign Het
Epc2 T A 2: 49,378,866 (GRCm39) probably null Het
Eya2 T C 2: 165,558,019 (GRCm39) V205A probably benign Het
Fat4 A G 3: 39,061,395 (GRCm39) H4326R probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm10100 G T 10: 77,562,498 (GRCm39) C60F possibly damaging Het
Hhip T A 8: 80,699,033 (GRCm39) R678W probably damaging Het
Il21r T A 7: 125,229,891 (GRCm39) I266K possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kif26b T C 1: 178,744,970 (GRCm39) S1689P probably damaging Het
L3mbtl2 A G 15: 81,566,128 (GRCm39) E317G probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lratd1 T A 12: 14,200,646 (GRCm39) D27V probably damaging Het
Lrr1 A G 12: 69,221,589 (GRCm39) N244D probably damaging Het
Lrrk2 A T 15: 91,586,450 (GRCm39) H422L probably benign Het
Map4k5 A G 12: 69,899,514 (GRCm39) S46P probably damaging Het
Ngf A G 3: 102,417,113 (GRCm39) probably benign Het
Nploc4 T C 11: 120,276,691 (GRCm39) I452V probably benign Het
Oas1d T A 5: 121,057,244 (GRCm39) Y283* probably null Het
Or52h1 A T 7: 103,829,261 (GRCm39) M118K possibly damaging Het
Or56b35 A T 7: 104,963,264 (GRCm39) I18F probably benign Het
Or5b109 A G 19: 13,211,785 (GRCm39) H57R probably damaging Het
Or5l13 T C 2: 87,779,779 (GRCm39) N266S probably benign Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Peg3 A G 7: 6,712,810 (GRCm39) V804A probably damaging Het
Piezo2 T A 18: 63,250,749 (GRCm39) Y450F possibly damaging Het
Pprc1 T A 19: 46,052,849 (GRCm39) V789E probably damaging Het
Prcc A G 3: 87,769,454 (GRCm39) M436T possibly damaging Het
Prepl A T 17: 85,377,859 (GRCm39) V507D probably damaging Het
Rag1 T A 2: 101,474,797 (GRCm39) N115I possibly damaging Het
Rap1gap T C 4: 137,409,068 (GRCm39) probably null Het
Reln A C 5: 22,265,331 (GRCm39) F454V probably damaging Het
Slc39a11 A T 11: 113,354,780 (GRCm39) S150T probably benign Het
Slc45a1 T A 4: 150,722,817 (GRCm39) I356F possibly damaging Het
Snrnp200 G A 2: 127,060,343 (GRCm39) G529D possibly damaging Het
Stkld1 A T 2: 26,839,393 (GRCm39) D353V possibly damaging Het
Susd2 T C 10: 75,473,880 (GRCm39) S572G probably damaging Het
Synrg T A 11: 83,899,484 (GRCm39) D563E probably damaging Het
Tmem131 C T 1: 36,858,209 (GRCm39) V713I probably benign Het
Tnfrsf8 A G 4: 145,004,094 (GRCm39) probably null Het
Trim26 C T 17: 37,167,110 (GRCm39) A267V probably benign Het
Trpm1 T G 7: 63,918,226 (GRCm39) F522C possibly damaging Het
Uggt1 T C 1: 36,273,997 (GRCm39) I29V probably benign Het
Unc5d C T 8: 29,156,820 (GRCm39) M808I probably benign Het
Vmn2r108 T A 17: 20,683,371 (GRCm39) D611V possibly damaging Het
Vps13a A C 19: 16,664,534 (GRCm39) Y1436* probably null Het
Wdfy3 C T 5: 102,020,831 (GRCm39) R2491Q possibly damaging Het
Zfp518a G T 19: 40,901,225 (GRCm39) V385F probably benign Het
Zfp541 C T 7: 15,829,451 (GRCm39) A1222V probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Other mutations in Cyp2b19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:Cyp2b19 APN 7 26,462,886 (GRCm39) missense possibly damaging 0.91
IGL01338:Cyp2b19 APN 7 26,458,842 (GRCm39) missense probably benign 0.09
IGL01374:Cyp2b19 APN 7 26,458,504 (GRCm39) missense probably benign 0.06
IGL01613:Cyp2b19 APN 7 26,462,886 (GRCm39) missense possibly damaging 0.91
IGL01695:Cyp2b19 APN 7 26,458,489 (GRCm39) missense probably damaging 1.00
IGL02322:Cyp2b19 APN 7 26,461,803 (GRCm39) missense possibly damaging 0.79
IGL03077:Cyp2b19 APN 7 26,461,809 (GRCm39) missense probably benign
R0047:Cyp2b19 UTSW 7 26,466,251 (GRCm39) missense probably benign 0.01
R0047:Cyp2b19 UTSW 7 26,466,251 (GRCm39) missense probably benign 0.01
R0452:Cyp2b19 UTSW 7 26,466,187 (GRCm39) missense probably benign 0.01
R0865:Cyp2b19 UTSW 7 26,461,654 (GRCm39) splice site probably benign
R1514:Cyp2b19 UTSW 7 26,466,585 (GRCm39) missense probably benign 0.00
R1681:Cyp2b19 UTSW 7 26,462,765 (GRCm39) splice site probably null
R2362:Cyp2b19 UTSW 7 26,463,802 (GRCm39) missense probably damaging 1.00
R4015:Cyp2b19 UTSW 7 26,461,768 (GRCm39) missense probably damaging 1.00
R4259:Cyp2b19 UTSW 7 26,462,807 (GRCm39) missense probably damaging 1.00
R4592:Cyp2b19 UTSW 7 26,470,819 (GRCm39) missense probably benign 0.04
R4705:Cyp2b19 UTSW 7 26,456,717 (GRCm39) missense probably benign 0.03
R4789:Cyp2b19 UTSW 7 26,463,801 (GRCm39) missense probably benign 0.16
R5481:Cyp2b19 UTSW 7 26,466,246 (GRCm39) missense probably damaging 0.99
R5749:Cyp2b19 UTSW 7 26,462,844 (GRCm39) missense possibly damaging 0.84
R6041:Cyp2b19 UTSW 7 26,458,852 (GRCm39) missense probably damaging 1.00
R6170:Cyp2b19 UTSW 7 26,458,519 (GRCm39) missense possibly damaging 0.80
R6370:Cyp2b19 UTSW 7 26,462,783 (GRCm39) missense probably benign 0.07
R6519:Cyp2b19 UTSW 7 26,458,536 (GRCm39) missense probably benign
R6656:Cyp2b19 UTSW 7 26,466,280 (GRCm39) missense probably benign
R7283:Cyp2b19 UTSW 7 26,466,339 (GRCm39) missense probably damaging 1.00
R7583:Cyp2b19 UTSW 7 26,458,489 (GRCm39) missense probably damaging 1.00
R7686:Cyp2b19 UTSW 7 26,461,768 (GRCm39) missense probably damaging 1.00
R7732:Cyp2b19 UTSW 7 26,470,769 (GRCm39) missense possibly damaging 0.67
R7831:Cyp2b19 UTSW 7 26,466,565 (GRCm39) missense possibly damaging 0.80
R8035:Cyp2b19 UTSW 7 26,470,675 (GRCm39) missense probably damaging 1.00
R8853:Cyp2b19 UTSW 7 26,456,645 (GRCm39) missense possibly damaging 0.53
R9574:Cyp2b19 UTSW 7 26,466,353 (GRCm39) missense probably null 1.00
R9574:Cyp2b19 UTSW 7 26,466,352 (GRCm39) missense probably damaging 1.00
R9650:Cyp2b19 UTSW 7 26,466,208 (GRCm39) missense possibly damaging 0.85
R9681:Cyp2b19 UTSW 7 26,466,328 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTTTGTGCCCACAGGAAAGC -3'
(R):5'- CATGGAGTCTAGATTGCTCTGGC -3'

Sequencing Primer
(F):5'- CACAGGAAAGCGCATTTGTCTTG -3'
(R):5'- CTCTGGCAAGTAGGGACTATGACTG -3'
Posted On 2018-03-15