Incidental Mutation 'R7731:Cyp2d9'
ID 595868
Institutional Source Beutler Lab
Gene Symbol Cyp2d9
Ensembl Gene ENSMUSG00000068086
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 9
Synonyms testosterone 16alpha-hydroxylase, P450-2D, Cyp2d
MMRRC Submission 045787-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R7731 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 82336578-82341028 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 82339633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000086530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089129] [ENSMUST00000229313] [ENSMUST00000229473] [ENSMUST00000229793] [ENSMUST00000230000] [ENSMUST00000230024] [ENSMUST00000230191] [ENSMUST00000231136]
AlphaFold P11714
Predicted Effect probably null
Transcript: ENSMUST00000089129
SMART Domains Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086

DomainStartEndE-ValueType
Pfam:p450 37 497 1.7e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229313
Predicted Effect probably benign
Transcript: ENSMUST00000229473
Predicted Effect probably benign
Transcript: ENSMUST00000229793
Predicted Effect probably benign
Transcript: ENSMUST00000230000
Predicted Effect probably null
Transcript: ENSMUST00000230024
Predicted Effect probably benign
Transcript: ENSMUST00000230191
Predicted Effect probably benign
Transcript: ENSMUST00000231136
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,470 (GRCm39) E210G possibly damaging Het
Accsl T C 2: 93,691,363 (GRCm39) T372A probably benign Het
Adgrf5 T A 17: 43,761,451 (GRCm39) S1049T probably damaging Het
Agmo G A 12: 37,464,939 (GRCm39) R405K probably benign Het
Akap3 A G 6: 126,842,031 (GRCm39) T217A probably benign Het
Ankfy1 T A 11: 72,603,107 (GRCm39) N45K probably benign Het
Ankrd11 G A 8: 123,622,172 (GRCm39) T560I probably benign Het
Aqp1 T C 6: 55,322,804 (GRCm39) Y186H possibly damaging Het
Arhgef18 G A 8: 3,434,936 (GRCm39) V194M probably damaging Het
Arnt T C 3: 95,391,086 (GRCm39) V320A probably benign Het
B230217C12Rik T C 11: 97,732,226 (GRCm39) L2P unknown Het
Bco1 C A 8: 117,857,807 (GRCm39) S477R possibly damaging Het
Brd4 A G 17: 32,430,198 (GRCm39) S703P possibly damaging Het
Ceacam3 T A 7: 16,892,275 (GRCm39) N339K Het
Cebpb A G 2: 167,531,126 (GRCm39) D62G probably damaging Het
Clca4a T C 3: 144,658,546 (GRCm39) I890V probably benign Het
Cyth1 T C 11: 118,059,879 (GRCm39) T374A possibly damaging Het
Dennd3 A T 15: 73,434,216 (GRCm39) H962L probably damaging Het
Dhtkd1 T G 2: 5,928,923 (GRCm39) L249F probably benign Het
Dnah7b T A 1: 46,178,905 (GRCm39) H859Q probably benign Het
E2f4 A G 8: 106,025,265 (GRCm39) D115G probably damaging Het
Eif4a3l1 A G 6: 136,305,871 (GRCm39) I111V probably benign Het
Exoc3l4 G C 12: 111,397,182 (GRCm39) D688H possibly damaging Het
Fan1 C T 7: 64,022,444 (GRCm39) V270I probably benign Het
Fat2 A T 11: 55,201,532 (GRCm39) I514N probably damaging Het
Fndc1 G A 17: 7,992,271 (GRCm39) T475I unknown Het
Fstl5 T A 3: 76,569,069 (GRCm39) I574N probably damaging Het
Fzd4 T C 7: 89,057,258 (GRCm39) V435A possibly damaging Het
Fzd6 T C 15: 38,897,327 (GRCm39) F492S probably damaging Het
Gm4924 T A 10: 82,213,361 (GRCm39) N386K unknown Het
Hbp1 A T 12: 31,983,367 (GRCm39) D362E possibly damaging Het
Hectd4 A C 5: 121,445,077 (GRCm39) M105L probably benign Het
Hivep2 C T 10: 14,025,458 (GRCm39) P2424L probably benign Het
Hspa4 A T 11: 53,157,791 (GRCm39) probably null Het
Igf2bp3 A G 6: 49,111,665 (GRCm39) V122A probably damaging Het
Ikzf2 A T 1: 69,578,302 (GRCm39) N402K possibly damaging Het
Ip6k1 T C 9: 107,921,927 (GRCm39) F207S probably damaging Het
Kbtbd8 C A 6: 95,095,559 (GRCm39) N24K probably benign Het
Krtap10-4 T G 10: 77,662,654 (GRCm39) T75P unknown Het
Macf1 C A 4: 123,338,672 (GRCm39) S4355I probably benign Het
Muc5b A T 7: 141,411,042 (GRCm39) probably null Het
Myo3a G A 2: 22,287,400 (GRCm39) V179M probably damaging Het
Nup210 G T 6: 91,048,870 (GRCm39) T462K possibly damaging Het
Or11g27 T A 14: 50,771,141 (GRCm39) S91T probably damaging Het
Or1l4 A G 2: 37,091,561 (GRCm39) M103V probably benign Het
Or51f5 A G 7: 102,424,141 (GRCm39) I137V probably benign Het
Or5j1 T C 2: 86,879,578 (GRCm39) M1V probably null Het
Or8b53 A G 9: 38,667,542 (GRCm39) Q186R possibly damaging Het
Ostn G A 16: 27,165,668 (GRCm39) R119Q probably damaging Het
Pcdhga11 A T 18: 37,889,564 (GRCm39) N191Y probably benign Het
Pcsk6 A T 7: 65,683,641 (GRCm39) Q752L probably benign Het
Pfas T C 11: 68,890,871 (GRCm39) T347A probably damaging Het
Pkd1 A T 17: 24,792,872 (GRCm39) R1520W probably damaging Het
Pphln1-ps1 C T 16: 13,495,623 (GRCm39) R241C probably damaging Het
Prpf8 T C 11: 75,399,732 (GRCm39) S2264P probably damaging Het
Ptcd1 C A 5: 145,088,174 (GRCm39) R612S probably benign Het
Ptch2 T A 4: 116,965,492 (GRCm39) F359Y probably benign Het
Ptprr A C 10: 116,073,200 (GRCm39) D474A probably damaging Het
Pum1 C A 4: 130,490,274 (GRCm39) Q846K probably benign Het
Slc22a14 C T 9: 118,999,677 (GRCm39) A505T possibly damaging Het
Smpdl3a A G 10: 57,678,650 (GRCm39) Y151C probably damaging Het
Snrnp200 A G 2: 127,071,022 (GRCm39) N1101S probably benign Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Sptlc1 A G 13: 53,487,993 (GRCm39) V450A probably benign Het
Sqle A G 15: 59,187,821 (GRCm39) Y43C probably benign Het
Srgap3 T C 6: 112,743,858 (GRCm39) H460R probably benign Het
Syt15 A T 14: 33,945,024 (GRCm39) E190D possibly damaging Het
Tbc1d10b T C 7: 126,797,993 (GRCm39) K716R probably benign Het
Tbx20 T C 9: 24,681,993 (GRCm39) I120M probably damaging Het
Tgm1 T G 14: 55,947,978 (GRCm39) I274L probably benign Het
Tmem156 C T 5: 65,232,905 (GRCm39) probably null Het
Tnk2 A G 16: 32,488,952 (GRCm39) D264G possibly damaging Het
Tsc22d4 A G 5: 137,756,956 (GRCm39) S306G possibly damaging Het
Tut1 T A 19: 8,936,626 (GRCm39) V150D probably benign Het
Uchl5 T C 1: 143,670,275 (GRCm39) F143L Het
Vmn1r23 T C 6: 57,903,319 (GRCm39) K153R probably benign Het
Zfp236 A T 18: 82,698,798 (GRCm39) D94E probably benign Het
Zfp759 T C 13: 67,287,690 (GRCm39) Y414H possibly damaging Het
Other mutations in Cyp2d9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Cyp2d9 APN 15 82,339,295 (GRCm39) missense probably benign 0.05
IGL00587:Cyp2d9 APN 15 82,339,344 (GRCm39) missense possibly damaging 0.89
IGL00815:Cyp2d9 APN 15 82,340,576 (GRCm39) missense possibly damaging 0.94
IGL03023:Cyp2d9 APN 15 82,339,719 (GRCm39) missense probably damaging 0.99
IGL03410:Cyp2d9 APN 15 82,340,900 (GRCm39) missense probably benign 0.00
R0417:Cyp2d9 UTSW 15 82,340,152 (GRCm39) missense probably damaging 1.00
R0627:Cyp2d9 UTSW 15 82,339,991 (GRCm39) missense probably damaging 1.00
R1326:Cyp2d9 UTSW 15 82,339,357 (GRCm39) missense possibly damaging 0.50
R1501:Cyp2d9 UTSW 15 82,338,525 (GRCm39) nonsense probably null
R1893:Cyp2d9 UTSW 15 82,336,807 (GRCm39) missense probably damaging 0.97
R2496:Cyp2d9 UTSW 15 82,336,680 (GRCm39) missense probably damaging 1.00
R2519:Cyp2d9 UTSW 15 82,338,719 (GRCm39) splice site probably null
R3155:Cyp2d9 UTSW 15 82,336,843 (GRCm39) critical splice donor site probably null
R4691:Cyp2d9 UTSW 15 82,340,033 (GRCm39) missense probably damaging 1.00
R4727:Cyp2d9 UTSW 15 82,338,602 (GRCm39) start codon destroyed probably null 0.99
R4770:Cyp2d9 UTSW 15 82,336,774 (GRCm39) missense probably damaging 0.98
R5319:Cyp2d9 UTSW 15 82,338,256 (GRCm39) missense probably damaging 1.00
R5486:Cyp2d9 UTSW 15 82,336,779 (GRCm39) missense probably damaging 0.96
R5516:Cyp2d9 UTSW 15 82,338,528 (GRCm39) missense probably null 1.00
R5646:Cyp2d9 UTSW 15 82,336,665 (GRCm39) missense probably benign 0.01
R5898:Cyp2d9 UTSW 15 82,339,725 (GRCm39) missense probably benign 0.02
R6193:Cyp2d9 UTSW 15 82,336,728 (GRCm39) missense probably benign 0.01
R6288:Cyp2d9 UTSW 15 82,340,616 (GRCm39) missense probably damaging 1.00
R6924:Cyp2d9 UTSW 15 82,339,413 (GRCm39) missense probably damaging 1.00
R7524:Cyp2d9 UTSW 15 82,340,146 (GRCm39) missense probably damaging 1.00
R7525:Cyp2d9 UTSW 15 82,338,293 (GRCm39) missense possibly damaging 0.91
R7889:Cyp2d9 UTSW 15 82,340,027 (GRCm39) missense probably damaging 0.97
R8353:Cyp2d9 UTSW 15 82,336,720 (GRCm39) missense probably damaging 0.99
R8682:Cyp2d9 UTSW 15 82,337,917 (GRCm39) missense probably damaging 1.00
R8709:Cyp2d9 UTSW 15 82,339,276 (GRCm39) missense probably benign 0.19
R9159:Cyp2d9 UTSW 15 82,338,572 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- GATTTGCAGTTCTAAGAGATGTAGCC -3'
(R):5'- TAGCACTGGGAGCCACAATC -3'

Sequencing Primer
(F):5'- TTCTAAGAGATGTAGCCAGGAATTG -3'
(R):5'- TCATACCAACTGACTGGGGACTG -3'
Posted On 2019-11-12