Incidental Mutation 'R7040:Cyp2c29'
ID 547031
Institutional Source Beutler Lab
Gene Symbol Cyp2c29
Ensembl Gene ENSMUSG00000003053
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 29
Synonyms AHOHase, Ahh-1, Ah-2, P450-2C, Cyp2c, AHOH
MMRRC Submission 045013-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R7040 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 39275541-39319157 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 39318781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 420 (K420N)
Ref Sequence ENSEMBL: ENSMUSP00000135863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003137] [ENSMUST00000176624] [ENSMUST00000177087]
AlphaFold Q64458
Predicted Effect possibly damaging
Transcript: ENSMUST00000003137
AA Change: K459N

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: K459N

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Pfam:p450 30 487 5.4e-165 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000176624
AA Change: K420N

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: K420N

DomainStartEndE-ValueType
Pfam:p450 12 448 2.7e-156 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177087
SMART Domains Protein: ENSMUSP00000135839
Gene: ENSMUSG00000003053

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
Pfam:p450 30 118 8.4e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A G 7: 127,835,897 (GRCm39) L232P possibly damaging Het
Acaa1a T C 9: 119,178,104 (GRCm39) V312A probably damaging Het
Bmp2 A G 2: 133,403,604 (GRCm39) D385G probably damaging Het
C1qtnf9 T C 14: 61,017,241 (GRCm39) V257A probably damaging Het
Cd3d G A 9: 44,896,991 (GRCm39) V122I probably damaging Het
Cdc37 T C 9: 21,053,519 (GRCm39) E199G probably damaging Het
Crb2 T A 2: 37,677,696 (GRCm39) D326E probably benign Het
Cyp2g1 A C 7: 26,520,184 (GRCm39) D472A probably damaging Het
Dab2 A C 15: 6,451,732 (GRCm39) H116P probably damaging Het
Dnah7b G C 1: 46,275,969 (GRCm39) E2619Q probably benign Het
Dsg4 A T 18: 20,584,909 (GRCm39) M208L probably benign Het
Eif4enif1 T G 11: 3,184,040 (GRCm39) V521G probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fpr-rs6 A G 17: 20,403,196 (GRCm39) M55T probably damaging Het
Grhpr A G 4: 44,985,362 (GRCm39) S101G probably damaging Het
Kif15 T A 9: 122,840,679 (GRCm39) D33E possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lama4 A G 10: 38,936,158 (GRCm39) Q611R possibly damaging Het
Lrrc47 T A 4: 154,104,909 (GRCm39) *123R probably null Het
Map4k3 A C 17: 80,988,344 (GRCm39) V36G probably damaging Het
Mme T A 3: 63,276,344 (GRCm39) I707N probably damaging Het
Muc2 A G 7: 141,305,194 (GRCm39) E166G unknown Het
Mucl1 T A 15: 103,783,844 (GRCm39) T108S possibly damaging Het
Myo1h A T 5: 114,497,805 (GRCm39) D53V possibly damaging Het
Naa15 T A 3: 51,380,205 (GRCm39) L811Q possibly damaging Het
Nalcn T C 14: 123,525,267 (GRCm39) T1487A probably benign Het
Nme8 A T 13: 19,878,498 (GRCm39) L87H probably damaging Het
Nr2e1 A G 10: 42,444,374 (GRCm39) V245A probably damaging Het
Nt5c2 A T 19: 46,881,974 (GRCm39) F291Y possibly damaging Het
Ooep T C 9: 78,285,683 (GRCm39) N43S possibly damaging Het
Or10ak13 T C 4: 118,639,183 (GRCm39) M200V probably benign Het
Or4e1 T C 14: 52,700,932 (GRCm39) D178G possibly damaging Het
Or52i2 A T 7: 102,319,937 (GRCm39) Q270L probably benign Het
Or52n2c A T 7: 104,574,717 (GRCm39) C85S probably benign Het
Ovch2 A T 7: 107,395,772 (GRCm39) I82N probably damaging Het
Palb2 A T 7: 121,713,622 (GRCm39) M524K possibly damaging Het
Patj T C 4: 98,329,317 (GRCm39) S524P probably benign Het
Patl1 T A 19: 11,907,318 (GRCm39) Y401N possibly damaging Het
Pcdhb20 A T 18: 37,637,770 (GRCm39) T99S probably benign Het
Plcb4 G A 2: 135,774,182 (GRCm39) A155T probably benign Het
Rpap3 A G 15: 97,576,993 (GRCm39) V585A possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spen T A 4: 141,221,693 (GRCm39) T302S unknown Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Ube2o T C 11: 116,432,686 (GRCm39) E760G probably benign Het
Uimc1 T A 13: 55,223,267 (GRCm39) probably null Het
Usp16 C T 16: 87,277,817 (GRCm39) A689V probably damaging Het
Vmn2r60 G A 7: 41,791,666 (GRCm39) A530T probably benign Het
Vps8 T A 16: 21,393,772 (GRCm39) M1185K probably damaging Het
Vwa8 T C 14: 79,149,645 (GRCm39) S136P probably damaging Het
Ythdc2 A G 18: 44,967,529 (GRCm39) N175S probably benign Het
Zfp160 A T 17: 21,246,794 (GRCm39) H448L probably damaging Het
Zfp90 T A 8: 107,151,641 (GRCm39) C451* probably null Het
Zfp945 A G 17: 23,071,264 (GRCm39) C212R probably damaging Het
Other mutations in Cyp2c29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Cyp2c29 APN 19 39,310,143 (GRCm39) splice site probably benign
IGL00482:Cyp2c29 APN 19 39,313,467 (GRCm39) missense probably damaging 0.97
IGL00694:Cyp2c29 APN 19 39,310,079 (GRCm39) missense possibly damaging 0.64
IGL00836:Cyp2c29 APN 19 39,313,434 (GRCm39) missense probably damaging 0.98
IGL00858:Cyp2c29 APN 19 39,296,100 (GRCm39) missense probably damaging 1.00
IGL01350:Cyp2c29 APN 19 39,318,771 (GRCm39) missense probably damaging 1.00
IGL01455:Cyp2c29 APN 19 39,317,561 (GRCm39) missense possibly damaging 0.89
IGL01718:Cyp2c29 APN 19 39,318,704 (GRCm39) missense possibly damaging 0.48
IGL01977:Cyp2c29 APN 19 39,279,341 (GRCm39) splice site probably benign
IGL01991:Cyp2c29 APN 19 39,318,759 (GRCm39) missense probably damaging 1.00
IGL02097:Cyp2c29 APN 19 39,296,064 (GRCm39) missense probably damaging 1.00
IGL02267:Cyp2c29 APN 19 39,318,866 (GRCm39) missense probably benign 0.19
IGL02451:Cyp2c29 APN 19 39,279,291 (GRCm39) missense possibly damaging 0.66
IGL02452:Cyp2c29 APN 19 39,279,291 (GRCm39) missense possibly damaging 0.66
IGL02548:Cyp2c29 APN 19 39,279,291 (GRCm39) missense possibly damaging 0.66
IGL02549:Cyp2c29 APN 19 39,298,229 (GRCm39) missense possibly damaging 0.48
IGL02938:Cyp2c29 APN 19 39,275,567 (GRCm39) missense probably damaging 0.99
IGL03252:Cyp2c29 APN 19 39,275,619 (GRCm39) missense probably damaging 1.00
IGL03367:Cyp2c29 APN 19 39,317,659 (GRCm39) missense probably damaging 0.97
H8562:Cyp2c29 UTSW 19 39,298,106 (GRCm39) missense probably damaging 1.00
IGL03052:Cyp2c29 UTSW 19 39,275,662 (GRCm39) missense possibly damaging 0.90
R0415:Cyp2c29 UTSW 19 39,317,539 (GRCm39) splice site probably benign
R0504:Cyp2c29 UTSW 19 39,298,224 (GRCm39) missense probably benign 0.29
R0690:Cyp2c29 UTSW 19 39,298,170 (GRCm39) missense probably benign 0.00
R1531:Cyp2c29 UTSW 19 39,313,412 (GRCm39) missense probably damaging 1.00
R1730:Cyp2c29 UTSW 19 39,313,389 (GRCm39) missense possibly damaging 0.79
R1981:Cyp2c29 UTSW 19 39,296,216 (GRCm39) splice site probably null
R2113:Cyp2c29 UTSW 19 39,318,708 (GRCm39) missense probably damaging 1.00
R2220:Cyp2c29 UTSW 19 39,275,676 (GRCm39) missense probably benign 0.09
R3873:Cyp2c29 UTSW 19 39,317,588 (GRCm39) missense probably damaging 0.99
R4424:Cyp2c29 UTSW 19 39,275,620 (GRCm39) missense probably damaging 0.98
R4451:Cyp2c29 UTSW 19 39,279,270 (GRCm39) missense probably damaging 0.99
R4803:Cyp2c29 UTSW 19 39,313,439 (GRCm39) missense probably benign 0.01
R5288:Cyp2c29 UTSW 19 39,318,816 (GRCm39) missense probably damaging 0.96
R5474:Cyp2c29 UTSW 19 39,313,436 (GRCm39) missense probably damaging 1.00
R5475:Cyp2c29 UTSW 19 39,318,731 (GRCm39) missense possibly damaging 0.91
R5893:Cyp2c29 UTSW 19 39,318,833 (GRCm39) missense possibly damaging 0.93
R5894:Cyp2c29 UTSW 19 39,318,833 (GRCm39) missense possibly damaging 0.93
R6000:Cyp2c29 UTSW 19 39,296,050 (GRCm39) critical splice acceptor site probably null
R6144:Cyp2c29 UTSW 19 39,310,053 (GRCm39) missense possibly damaging 0.96
R6296:Cyp2c29 UTSW 19 39,318,705 (GRCm39) missense possibly damaging 0.64
R6365:Cyp2c29 UTSW 19 39,296,198 (GRCm39) missense probably damaging 1.00
R6449:Cyp2c29 UTSW 19 39,279,311 (GRCm39) missense probably benign 0.05
R6464:Cyp2c29 UTSW 19 39,317,669 (GRCm39) missense probably damaging 0.96
R6919:Cyp2c29 UTSW 19 39,279,585 (GRCm39) missense probably benign 0.26
R6978:Cyp2c29 UTSW 19 39,310,107 (GRCm39) missense probably damaging 1.00
R7038:Cyp2c29 UTSW 19 39,275,571 (GRCm39) missense probably benign 0.01
R7391:Cyp2c29 UTSW 19 39,296,211 (GRCm39) missense probably null 0.98
R8712:Cyp2c29 UTSW 19 39,310,138 (GRCm39) critical splice donor site probably benign
R8863:Cyp2c29 UTSW 19 39,261,810 (GRCm39) missense probably benign 0.00
R9468:Cyp2c29 UTSW 19 39,296,166 (GRCm39) missense probably benign 0.07
X0024:Cyp2c29 UTSW 19 39,310,043 (GRCm39) missense probably benign 0.01
Z1176:Cyp2c29 UTSW 19 39,313,441 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- CTCAGCCATCCATCTAATCACCT -3'
(R):5'- AAGCCAGGATGAAAGATACCAT -3'

Sequencing Primer
(F):5'- GCCATCCATCTAATCACCTATACAC -3'
(R):5'- AGGATGAAAGATACCATATCCCTG -3'
Posted On 2019-05-13