Incidental Mutation 'R5157:Cyp2d26'
ID 396799
Institutional Source Beutler Lab
Gene Symbol Cyp2d26
Ensembl Gene ENSMUSG00000022445
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 26
Synonyms 1300006E06Rik
MMRRC Submission 042739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R5157 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 82674302-82678495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82675190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 388 (Q388R)
Ref Sequence ENSEMBL: ENSMUSP00000006094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006094] [ENSMUST00000229387] [ENSMUST00000229512]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006094
AA Change: Q388R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000006094
Gene: ENSMUSG00000022445
AA Change: Q388R

DomainStartEndE-ValueType
transmembrane domain 10 27 N/A INTRINSIC
Pfam:p450 37 497 3.5e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229387
Predicted Effect probably benign
Transcript: ENSMUST00000229512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230125
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,096 (GRCm39) R1266C probably damaging Het
Adap2 T C 11: 80,047,772 (GRCm39) F76S probably damaging Het
Adgb T A 10: 10,274,710 (GRCm39) H747L probably damaging Het
Aox1 T A 1: 58,109,222 (GRCm39) V670D probably damaging Het
Ap4e1 A G 2: 126,903,615 (GRCm39) D839G probably benign Het
Arhgef11 T A 3: 87,635,817 (GRCm39) probably null Het
AY074887 T C 9: 54,858,102 (GRCm39) probably benign Het
Bicd1 C G 6: 149,421,912 (GRCm39) Q878E probably benign Het
Catspere1 A T 1: 177,707,348 (GRCm39) noncoding transcript Het
Cnmd T C 14: 79,894,126 (GRCm39) Q87R probably benign Het
Col24a1 G T 3: 145,051,712 (GRCm39) G661* probably null Het
Crtap G A 9: 114,213,860 (GRCm39) L232F probably damaging Het
Ctsq T C 13: 61,184,913 (GRCm39) T258A probably benign Het
Ddb1 A T 19: 10,599,728 (GRCm39) T646S probably benign Het
Dnah6 G T 6: 73,172,617 (GRCm39) S280R probably benign Het
Dzank1 T C 2: 144,325,332 (GRCm39) H545R probably damaging Het
Ehhadh T A 16: 21,585,261 (GRCm39) M207L probably benign Het
Elmo2 T A 2: 165,133,627 (GRCm39) probably benign Het
Golga3 G A 5: 110,350,537 (GRCm39) A731T probably benign Het
Igsf21 T C 4: 139,755,378 (GRCm39) T426A possibly damaging Het
Kcnf1 T C 12: 17,224,742 (GRCm39) E493G probably benign Het
Lmna A T 3: 88,391,414 (GRCm39) D364E probably damaging Het
Lsr T C 7: 30,665,465 (GRCm39) Y163C probably damaging Het
Map3k20 A T 2: 72,268,558 (GRCm39) T522S probably benign Het
Mroh9 C A 1: 162,871,690 (GRCm39) A598S probably damaging Het
Msln T C 17: 25,971,957 (GRCm39) M87V probably benign Het
Or14c39 A G 7: 86,344,440 (GRCm39) K259E probably benign Het
Or1e26 T C 11: 73,480,549 (GRCm39) N5S probably damaging Het
Or4a27 T A 2: 88,559,892 (GRCm39) Q17L probably benign Het
Or5d16 T A 2: 87,773,232 (GRCm39) M247L probably benign Het
Pals1 T A 12: 78,867,589 (GRCm39) M324K possibly damaging Het
Plekhg5 T A 4: 152,192,322 (GRCm39) probably benign Het
Pprc1 G T 19: 46,053,197 (GRCm39) probably benign Het
Ptprm T A 17: 67,264,092 (GRCm39) K385I probably benign Het
Rfxap T A 3: 54,711,938 (GRCm39) N215I probably damaging Het
Slc16a7 A T 10: 125,069,333 (GRCm39) Y114* probably null Het
Smarcb1 G T 10: 75,747,628 (GRCm39) probably benign Het
Spef2 T A 15: 9,668,877 (GRCm39) R770* probably null Het
Stard9 A T 2: 120,528,342 (GRCm39) Y1533F probably benign Het
Tbcd A T 11: 121,500,853 (GRCm39) Y1142F probably benign Het
Trappc2b A T 11: 51,576,893 (GRCm39) S2T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Uba7 G A 9: 107,857,246 (GRCm39) V703I probably benign Het
Upb1 T C 10: 75,248,638 (GRCm39) S53P possibly damaging Het
Zfp672 A G 11: 58,207,677 (GRCm39) S215P possibly damaging Het
Zfp978 T A 4: 147,475,437 (GRCm39) L328H probably damaging Het
Other mutations in Cyp2d26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Cyp2d26 APN 15 82,675,244 (GRCm39) missense probably benign 0.31
IGL00670:Cyp2d26 APN 15 82,675,942 (GRCm39) missense probably benign
IGL01646:Cyp2d26 APN 15 82,675,619 (GRCm39) missense probably benign 0.00
IGL01915:Cyp2d26 APN 15 82,674,450 (GRCm39) missense probably benign 0.06
IGL01940:Cyp2d26 APN 15 82,676,758 (GRCm39) missense probably benign 0.00
IGL02127:Cyp2d26 APN 15 82,675,307 (GRCm39) missense probably benign 0.09
IGL02452:Cyp2d26 APN 15 82,676,827 (GRCm39) missense probably benign 0.00
IGL03216:Cyp2d26 APN 15 82,677,462 (GRCm39) missense probably benign
IGL03377:Cyp2d26 APN 15 82,674,755 (GRCm39) missense possibly damaging 0.47
R0149:Cyp2d26 UTSW 15 82,676,968 (GRCm39) missense probably damaging 1.00
R0848:Cyp2d26 UTSW 15 82,674,434 (GRCm39) missense probably benign 0.00
R1165:Cyp2d26 UTSW 15 82,678,242 (GRCm39) missense probably damaging 1.00
R1217:Cyp2d26 UTSW 15 82,677,068 (GRCm39) splice site probably benign
R1780:Cyp2d26 UTSW 15 82,678,208 (GRCm39) missense probably damaging 1.00
R2048:Cyp2d26 UTSW 15 82,676,928 (GRCm39) utr 3 prime probably benign
R2152:Cyp2d26 UTSW 15 82,676,907 (GRCm39) critical splice donor site probably null
R2397:Cyp2d26 UTSW 15 82,678,236 (GRCm39) missense probably damaging 1.00
R4702:Cyp2d26 UTSW 15 82,676,648 (GRCm39) intron probably benign
R5444:Cyp2d26 UTSW 15 82,676,739 (GRCm39) missense probably benign 0.18
R6017:Cyp2d26 UTSW 15 82,674,774 (GRCm39) missense possibly damaging 0.68
R6223:Cyp2d26 UTSW 15 82,675,918 (GRCm39) missense probably benign 0.04
R6390:Cyp2d26 UTSW 15 82,676,825 (GRCm39) missense possibly damaging 0.68
R6473:Cyp2d26 UTSW 15 82,675,968 (GRCm39) missense probably benign 0.02
R6858:Cyp2d26 UTSW 15 82,678,284 (GRCm39) missense probably damaging 1.00
R6912:Cyp2d26 UTSW 15 82,675,320 (GRCm39) missense probably benign 0.16
R6936:Cyp2d26 UTSW 15 82,676,741 (GRCm39) missense probably benign 0.14
R6960:Cyp2d26 UTSW 15 82,674,446 (GRCm39) missense probably damaging 0.98
R7053:Cyp2d26 UTSW 15 82,676,801 (GRCm39) missense probably benign 0.00
R7113:Cyp2d26 UTSW 15 82,674,403 (GRCm39) missense probably benign 0.02
R7126:Cyp2d26 UTSW 15 82,678,209 (GRCm39) missense probably benign 0.00
R7272:Cyp2d26 UTSW 15 82,676,764 (GRCm39) missense probably benign
R7771:Cyp2d26 UTSW 15 82,675,947 (GRCm39) missense probably benign
R8695:Cyp2d26 UTSW 15 82,676,907 (GRCm39) critical splice donor site probably benign
R9466:Cyp2d26 UTSW 15 82,674,424 (GRCm39) missense probably benign 0.01
R9489:Cyp2d26 UTSW 15 82,674,672 (GRCm39) missense probably benign 0.00
R9605:Cyp2d26 UTSW 15 82,674,672 (GRCm39) missense probably benign 0.00
R9656:Cyp2d26 UTSW 15 82,677,059 (GRCm39) missense probably benign 0.03
X0021:Cyp2d26 UTSW 15 82,674,718 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ATCTGCAGTGCCTCCTACAAC -3'
(R):5'- AGATCCTATCTATCCAGGCCG -3'

Sequencing Primer
(F):5'- AAGCTCATTTCACTGGCCG -3'
(R):5'- TATCCAGGCCGTGTCCAC -3'
Posted On 2016-06-21