Incidental Mutation 'R0070:Cyp2d40'
ID201468
Institutional Source Beutler Lab
Gene Symbol Cyp2d40
Ensembl Gene ENSMUSG00000068083
Gene Namecytochrome P450, family 2, subfamily d, polypeptide 40
Synonyms
MMRRC Submission 038361-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #R0070 (G1)
Quality Score64
Status Validated
Chromosome15
Chromosomal Location82759833-82764183 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 82760774 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 225 (V225A)
Ref Sequence ENSEMBL: ENSMUSP00000060524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055721]
Predicted Effect unknown
Transcript: ENSMUST00000055721
AA Change: V225A
SMART Domains Protein: ENSMUSP00000060524
Gene: ENSMUSG00000068083
AA Change: V225A

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:p450 59 335 1.3e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230433
Meta Mutation Damage Score 0.0897 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 55,802,154 I387T probably damaging Het
Alpi A G 1: 87,101,159 probably benign Het
Ankfn1 A T 11: 89,392,302 L173Q probably damaging Het
Atp2a1 T C 7: 126,447,452 E892G probably benign Het
AU018091 T C 7: 3,158,898 probably null Het
Capn12 T C 7: 28,889,126 probably benign Het
Capn2 C A 1: 182,473,869 probably benign Het
Cd79b A G 11: 106,311,918 probably benign Het
Cdh7 C T 1: 110,098,372 A446V probably benign Het
Ciapin1 T C 8: 94,825,219 N246S possibly damaging Het
Cmip T A 8: 117,426,554 I270N probably damaging Het
Dnah9 A G 11: 66,160,040 V142A probably benign Het
Fam126a T C 5: 23,964,999 S451G probably damaging Het
Flt3 A G 5: 147,372,726 probably benign Het
Gm10238 A G 15: 75,237,585 noncoding transcript Het
Gm4787 T A 12: 81,379,066 D106V probably damaging Het
Hipk2 G A 6: 38,818,984 R117* probably null Het
Ifna11 A G 4: 88,820,275 D106G possibly damaging Het
Igkv1-115 G A 6: 68,161,418 V2I probably benign Het
Itga6 T C 2: 71,826,716 probably benign Het
Kcnj6 C A 16: 94,941,197 K5N probably benign Het
Kcnt1 T C 2: 25,892,362 V191A probably benign Het
Lcorl G A 5: 45,733,701 R437C probably damaging Het
Man2a1 G A 17: 64,659,079 probably null Het
Map3k14 T A 11: 103,239,554 probably null Het
Mtch1 T A 17: 29,340,059 probably benign Het
Myo1c A G 11: 75,660,250 N217S probably benign Het
Olfr132 A G 17: 38,130,889 L101P probably damaging Het
Olfr1362 T C 13: 21,611,261 K236R possibly damaging Het
Orm3 A G 4: 63,356,646 T64A probably benign Het
Phf20l1 T G 15: 66,639,991 W940G probably damaging Het
Phldb1 C T 9: 44,707,904 R844H probably damaging Het
Piezo2 T C 18: 63,102,084 D814G probably damaging Het
Pkd2 T C 5: 104,466,990 C233R probably damaging Het
Prkd3 A G 17: 78,954,510 Y792H probably damaging Het
Pth1r A T 9: 110,727,550 probably null Het
Pxdn T C 12: 29,982,727 L146S probably damaging Het
Rnf32 A G 5: 29,225,127 T315A probably benign Het
Rpl5 T C 5: 107,901,900 Y12H probably benign Het
Serpinh1 A T 7: 99,349,314 S36R probably damaging Het
Setx A T 2: 29,161,525 T2030S probably benign Het
Sf3a3 G A 4: 124,714,955 V21I probably benign Het
Sin3b T A 8: 72,725,582 H105Q probably damaging Het
Slitrk1 T C 14: 108,913,317 probably benign Het
Slx4 A T 16: 3,988,016 D557E possibly damaging Het
Sprr3 C T 3: 92,457,302 M78I probably benign Het
Ssmem1 A G 6: 30,519,421 E35G possibly damaging Het
Stag1 C T 9: 100,956,408 P1238S probably null Het
Stra6 C T 9: 58,152,615 probably benign Het
Tmem127 T C 2: 127,257,059 V171A probably damaging Het
Tmem150a A G 6: 72,358,759 probably null Het
Top2a C G 11: 99,015,060 probably null Het
Ttn T C 2: 76,814,427 probably null Het
Tusc3 G A 8: 39,063,267 G129R possibly damaging Het
Uspl1 A G 5: 149,209,705 Y422C probably damaging Het
Vmn2r88 A T 14: 51,414,140 T312S probably benign Het
Wdr78 A T 4: 103,059,934 I571K probably damaging Het
Zc3hav1l A T 6: 38,295,190 S215T probably damaging Het
Zfp947 T A 17: 22,146,184 T170S probably benign Het
Other mutations in Cyp2d40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01134:Cyp2d40 APN 15 82760901 missense unknown
IGL01313:Cyp2d40 APN 15 82761277 missense unknown
IGL01714:Cyp2d40 APN 15 82761240 missense possibly damaging 0.55
IGL02324:Cyp2d40 APN 15 82760948 splice site probably benign
IGL02993:Cyp2d40 APN 15 82761521 missense probably benign 0.19
IGL03162:Cyp2d40 APN 15 82760042 missense unknown
R0499:Cyp2d40 UTSW 15 82761217 missense probably benign 0.11
R0885:Cyp2d40 UTSW 15 82760915 missense unknown
R1587:Cyp2d40 UTSW 15 82761133 splice site probably null
R1613:Cyp2d40 UTSW 15 82761439 missense unknown
R4773:Cyp2d40 UTSW 15 82761562 missense possibly damaging 0.73
R5047:Cyp2d40 UTSW 15 82760259 missense unknown
R5604:Cyp2d40 UTSW 15 82764055 missense probably damaging 0.99
R6087:Cyp2d40 UTSW 15 82764004 missense possibly damaging 0.73
R6334:Cyp2d40 UTSW 15 82761552 missense probably benign 0.03
R6841:Cyp2d40 UTSW 15 82761486 missense probably benign 0.03
R7017:Cyp2d40 UTSW 15 82760033 missense unknown
R7045:Cyp2d40 UTSW 15 82761562 missense probably benign 0.01
R7565:Cyp2d40 UTSW 15 82760774 missense unknown
R7934:Cyp2d40 UTSW 15 82764011 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGAGACAGATGTCCACACTGTCACC -3'
(R):5'- TGCCTCCCAGCAATGGTTTAACAC -3'

Sequencing Primer
(F):5'- GTGGCTGTTACAAGCACTCC -3'
(R):5'- TACAATGTCTTTCCAGGCCGAG -3'
Posted On2014-06-10