Incidental Mutation 'R9378:Cyp2d40'
ID 709812
Institutional Source Beutler Lab
Gene Symbol Cyp2d40
Ensembl Gene ENSMUSG00000068083
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 40
Synonyms 1300013D18Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R9378 (G1)
Quality Score 208.009
Status Not validated
Chromosome 15
Chromosomal Location 82644034-82648323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82645802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 68 (F68L)
Ref Sequence ENSEMBL: ENSMUSP00000060524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055721]
AlphaFold Q6P8N9
Predicted Effect possibly damaging
Transcript: ENSMUST00000055721
AA Change: F68L

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060524
Gene: ENSMUSG00000068083
AA Change: F68L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:p450 59 335 1.3e-94 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,471,735 (GRCm39) K1047E possibly damaging Het
Aadacl2fm1 A G 3: 59,839,110 (GRCm39) T11A possibly damaging Het
Abca14 A T 7: 119,807,191 (GRCm39) Y79F possibly damaging Het
Abca2 T A 2: 25,329,094 (GRCm39) M978K probably benign Het
Adamts3 A T 5: 89,848,269 (GRCm39) C684* probably null Het
Adnp2 T C 18: 80,172,637 (GRCm39) T591A probably benign Het
Aff4 A T 11: 53,263,306 (GRCm39) T109S probably damaging Het
Agmo A G 12: 37,293,720 (GRCm39) I48V probably benign Het
Appl1 G A 14: 26,649,784 (GRCm39) R581* probably null Het
Armc9 A T 1: 86,189,766 (GRCm39) M714L probably benign Het
Atp6v0d2 T A 4: 19,922,377 (GRCm39) T41S probably benign Het
Bin1 A T 18: 32,552,921 (GRCm39) Q182L probably damaging Het
Bmp10 A G 6: 87,410,684 (GRCm39) D159G probably benign Het
Bsn G A 9: 107,984,854 (GRCm39) P295S possibly damaging Het
Cbx6 A G 15: 79,712,606 (GRCm39) S274P probably damaging Het
Cdc20b A G 13: 113,192,631 (GRCm39) K108R probably benign Het
Ces1d T A 8: 93,912,724 (GRCm39) N238I probably damaging Het
Col7a1 C T 9: 108,787,708 (GRCm39) Q663* probably null Het
Cpsf3 T C 12: 21,358,039 (GRCm39) I517T possibly damaging Het
Cyp2a5 C A 7: 26,539,879 (GRCm39) T309N probably damaging Het
Cyp7b1 A T 3: 18,150,837 (GRCm39) W301R probably damaging Het
Dnah6 T A 6: 73,189,513 (GRCm39) N45I probably benign Het
Dnah7a A T 1: 53,621,776 (GRCm39) H1116Q probably benign Het
Dntt A G 19: 41,027,356 (GRCm39) N141S probably benign Het
Fbxl13 T C 5: 21,790,201 (GRCm39) N281D probably damaging Het
Frem2 A T 3: 53,559,410 (GRCm39) L1699H probably damaging Het
Gabrr3 T C 16: 59,282,037 (GRCm39) V464A possibly damaging Het
Gdap1 T A 1: 17,227,353 (GRCm39) I160N probably damaging Het
Hnrnpll C A 17: 80,369,291 (GRCm39) R44L unknown Het
Hsp90ab1 T C 17: 45,881,680 (GRCm39) E187G probably damaging Het
Ighm T A 12: 113,386,210 (GRCm39) T47S Het
Itgb7 A C 15: 102,135,831 (GRCm39) probably null Het
Kif16b A T 2: 142,461,738 (GRCm39) C1293* probably null Het
Klf11 C T 12: 24,705,043 (GRCm39) R166C probably benign Het
Lca5l T A 16: 95,977,212 (GRCm39) Q198L probably damaging Het
Lnx2 A T 5: 146,961,180 (GRCm39) M584K probably benign Het
Lpp A T 16: 24,540,737 (GRCm39) M1L probably benign Het
Lrig3 A G 10: 125,832,953 (GRCm39) T276A probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Megf8 A T 7: 25,039,840 (GRCm39) probably null Het
Myh1 A C 11: 67,093,259 (GRCm39) T117P probably damaging Het
Neb C A 2: 52,134,113 (GRCm39) R3290L possibly damaging Het
Neb A C 2: 52,137,304 (GRCm39) V220G Het
Nktr A T 9: 121,577,264 (GRCm39) K444I probably damaging Het
Nol11 A T 11: 107,064,505 (GRCm39) M483K probably benign Het
Npy1r C A 8: 67,156,861 (GRCm39) P94T probably damaging Het
Nsmaf T C 4: 6,440,940 (GRCm39) T37A probably benign Het
Or10ad1b A G 15: 98,124,920 (GRCm39) L204P possibly damaging Het
Or2y3 G A 17: 38,393,056 (GRCm39) A271V possibly damaging Het
Or4c119 T C 2: 88,987,399 (GRCm39) N40S probably damaging Het
Or51v8 A T 7: 103,319,389 (GRCm39) M283K probably damaging Het
Or5w14 C A 2: 87,541,423 (GRCm39) V276F possibly damaging Het
Or8a1b A G 9: 37,623,473 (GRCm39) I34T probably damaging Het
Or8b37 G A 9: 37,958,775 (GRCm39) V86M possibly damaging Het
Palld C T 8: 61,969,691 (GRCm39) R1211H unknown Het
Pcdha3 A G 18: 37,080,284 (GRCm39) D342G probably damaging Het
Pclo G A 5: 14,815,877 (GRCm39) V1266I Het
Pcnx4 T C 12: 72,602,664 (GRCm39) Y309H probably damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Pdzrn3 T G 6: 101,127,772 (GRCm39) K965Q probably damaging Het
Phldb1 G A 9: 44,615,425 (GRCm39) A225V probably benign Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Plat A G 8: 23,265,599 (GRCm39) Y214C probably damaging Het
Plppr1 T A 4: 49,325,627 (GRCm39) C274* probably null Het
Poglut1 A G 16: 38,347,133 (GRCm39) F345L possibly damaging Het
Ppara A T 15: 85,661,837 (GRCm39) E26V possibly damaging Het
Ppcdc A T 9: 57,327,571 (GRCm39) W79R probably damaging Het
Prdm1 C T 10: 44,316,150 (GRCm39) C662Y probably damaging Het
Sgms2 G A 3: 131,136,011 (GRCm39) probably benign Het
Slc31a1 T A 4: 62,306,843 (GRCm39) M133K probably damaging Het
Smg1 G A 7: 117,777,998 (GRCm39) Q1309* probably null Het
Sos1 T C 17: 80,761,239 (GRCm39) I152M probably damaging Het
Stk4 A T 2: 163,952,136 (GRCm39) probably benign Het
Syne1 T G 10: 5,200,954 (GRCm39) N3538T probably damaging Het
Tbc1d16 A G 11: 119,099,666 (GRCm39) F236S probably damaging Het
Tgs1 T A 4: 3,595,475 (GRCm39) M548K probably benign Het
Twf1 G A 15: 94,483,336 (GRCm39) T124I probably damaging Het
Tyro3 G A 2: 119,642,648 (GRCm39) G611R probably damaging Het
Unc13b T A 4: 43,173,282 (GRCm39) I1370K unknown Het
Usp40 A G 1: 87,885,032 (GRCm39) W939R probably damaging Het
Vamp8 A T 6: 72,362,554 (GRCm39) V82E probably damaging Het
Vmn2r17 A G 5: 109,575,732 (GRCm39) H201R possibly damaging Het
Whrn T C 4: 63,350,079 (GRCm39) H546R probably benign Het
Yeats2 T C 16: 20,033,228 (GRCm39) V1036A probably benign Het
Zfp352 T G 4: 90,112,575 (GRCm39) N238K probably benign Het
Zfp36l3 TCCAGGGGCGAGGGCAGCCCCAGGAGCAAGGGCCGCCCTAGGAATGAGGGCCGCCCCAGG TCCAGG X: 52,776,521 (GRCm39) probably benign Het
Zfp462 T A 4: 55,011,510 (GRCm39) S1159T probably benign Het
Zscan4-ps1 A T 7: 10,800,192 (GRCm39) H232Q probably benign Het
Other mutations in Cyp2d40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Cyp2d40 APN 15 82,645,102 (GRCm39) missense unknown
IGL01313:Cyp2d40 APN 15 82,645,478 (GRCm39) missense unknown
IGL01714:Cyp2d40 APN 15 82,645,441 (GRCm39) missense possibly damaging 0.55
IGL02324:Cyp2d40 APN 15 82,645,149 (GRCm39) splice site probably benign
IGL02993:Cyp2d40 APN 15 82,645,722 (GRCm39) missense probably benign 0.19
IGL03162:Cyp2d40 APN 15 82,644,243 (GRCm39) missense unknown
R0070:Cyp2d40 UTSW 15 82,644,975 (GRCm39) missense unknown
R0499:Cyp2d40 UTSW 15 82,645,418 (GRCm39) missense probably benign 0.11
R0885:Cyp2d40 UTSW 15 82,645,116 (GRCm39) missense unknown
R1587:Cyp2d40 UTSW 15 82,645,334 (GRCm39) splice site probably null
R1613:Cyp2d40 UTSW 15 82,645,640 (GRCm39) missense unknown
R4773:Cyp2d40 UTSW 15 82,645,763 (GRCm39) missense possibly damaging 0.73
R5047:Cyp2d40 UTSW 15 82,644,460 (GRCm39) missense unknown
R5604:Cyp2d40 UTSW 15 82,648,256 (GRCm39) missense probably damaging 0.99
R6087:Cyp2d40 UTSW 15 82,648,205 (GRCm39) missense possibly damaging 0.73
R6334:Cyp2d40 UTSW 15 82,645,753 (GRCm39) missense probably benign 0.03
R6841:Cyp2d40 UTSW 15 82,645,687 (GRCm39) missense probably benign 0.03
R7017:Cyp2d40 UTSW 15 82,644,234 (GRCm39) missense unknown
R7045:Cyp2d40 UTSW 15 82,645,763 (GRCm39) missense probably benign 0.01
R7565:Cyp2d40 UTSW 15 82,644,975 (GRCm39) missense unknown
R7934:Cyp2d40 UTSW 15 82,648,212 (GRCm39) missense probably damaging 0.99
R8896:Cyp2d40 UTSW 15 82,644,454 (GRCm39) missense unknown
R9522:Cyp2d40 UTSW 15 82,648,274 (GRCm39) missense possibly damaging 0.50
R9558:Cyp2d40 UTSW 15 82,645,667 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCCAGTGCAATGGACACCAG -3'
(R):5'- CTGAATTTCTATGGTTGCCCG -3'

Sequencing Primer
(F):5'- TGGACACCAGATCTCAGAGTCTCTC -3'
(R):5'- CCGGGGCCTCAATGATGTTATC -3'
Posted On 2022-04-18