Incidental Mutation 'R3054:Cyp2a22'
ID 265071
Institutional Source Beutler Lab
Gene Symbol Cyp2a22
Ensembl Gene ENSMUSG00000091867
Gene Name cytochrome P450, family 2, subfamily a, polypeptide 22
Synonyms EG233005
MMRRC Submission 040563-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R3054 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 26631056-26638809 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26638254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 84 (D84G)
Ref Sequence ENSEMBL: ENSMUSP00000128030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170227]
AlphaFold B2RXZ2
Predicted Effect probably damaging
Transcript: ENSMUST00000170227
AA Change: D84G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128030
Gene: ENSMUSG00000091867
AA Change: D84G

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:p450 33 489 7.4e-148 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206957
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A T 6: 52,156,108 (GRCm39) probably benign Het
Aldh1l2 T C 10: 83,338,336 (GRCm39) K528E probably benign Het
Als2 A G 1: 59,254,653 (GRCm39) C235R probably damaging Het
Armc6 C A 8: 70,677,799 (GRCm39) V177L probably benign Het
Asb7 A T 7: 66,328,959 (GRCm39) V27D probably damaging Het
Bard1 A G 1: 71,127,390 (GRCm39) V73A possibly damaging Het
Ccdc150 A G 1: 54,328,001 (GRCm39) N361S possibly damaging Het
Cntn5 A G 9: 10,419,076 (GRCm39) L7P probably benign Het
Cst3 A G 2: 148,713,951 (GRCm39) S118P probably damaging Het
Ddo A G 10: 40,507,738 (GRCm39) N45S probably benign Het
Drd4 T C 7: 140,874,392 (GRCm39) V319A probably damaging Het
Fat3 C T 9: 15,871,792 (GRCm39) R3533H probably benign Het
Fras1 A T 5: 96,912,802 (GRCm39) I3369F probably damaging Het
Gm5591 T C 7: 38,220,058 (GRCm39) S272G probably benign Het
Gm8444 A T 15: 81,727,845 (GRCm39) probably benign Het
Gm9776 A G 13: 94,495,158 (GRCm39) probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Larp1b A T 3: 40,918,535 (GRCm39) I59F probably benign Het
Ltn1 C T 16: 87,200,961 (GRCm39) A1092T probably benign Het
Map1b A G 13: 99,569,250 (GRCm39) V1157A unknown Het
Mboat1 A T 13: 30,379,724 (GRCm39) M92L probably benign Het
Meis3 G T 7: 15,916,378 (GRCm39) L284F probably damaging Het
Muc20 T C 16: 32,599,403 (GRCm39) F3317L probably benign Het
Muc5b G T 7: 141,417,778 (GRCm39) V3575F probably damaging Het
Polr1e C T 4: 45,018,724 (GRCm39) T18I possibly damaging Het
Ppp4r1 G T 17: 66,143,074 (GRCm39) A764S probably damaging Het
Psg29 A G 7: 16,942,727 (GRCm39) T243A probably benign Het
Ptprn2 T C 12: 116,685,753 (GRCm39) Y71H probably damaging Het
Radx T A X: 138,412,306 (GRCm39) V439E possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sh3bp1 C T 15: 78,795,622 (GRCm39) P584S probably benign Het
Slc4a4 T C 5: 89,373,807 (GRCm39) V971A probably damaging Het
Stil T A 4: 114,862,163 (GRCm39) H35Q probably damaging Het
Strn A T 17: 78,990,321 (GRCm39) V65D probably damaging Het
Sumf1 T C 6: 108,130,165 (GRCm39) N185D probably benign Het
Timm29 T C 9: 21,504,887 (GRCm39) M185T probably damaging Het
Tjp3 T C 10: 81,116,341 (GRCm39) K251R probably benign Het
Tubgcp6 A T 15: 89,006,806 (GRCm39) M72K probably damaging Het
Utp14b T A 1: 78,642,442 (GRCm39) D113E possibly damaging Het
Vps13b A G 15: 35,646,507 (GRCm39) E1537G probably damaging Het
Zfr A G 15: 12,154,593 (GRCm39) N592S probably damaging Het
Other mutations in Cyp2a22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Cyp2a22 APN 7 26,637,163 (GRCm39) missense probably benign 0.09
IGL01111:Cyp2a22 APN 7 26,635,883 (GRCm39) missense probably damaging 1.00
IGL01388:Cyp2a22 APN 7 26,637,217 (GRCm39) missense probably benign 0.02
IGL01449:Cyp2a22 APN 7 26,632,978 (GRCm39) missense probably benign 0.01
IGL01642:Cyp2a22 APN 7 26,638,184 (GRCm39) missense possibly damaging 0.81
IGL02253:Cyp2a22 APN 7 26,637,662 (GRCm39) splice site probably benign
IGL02327:Cyp2a22 APN 7 26,634,206 (GRCm39) missense probably damaging 0.99
IGL02673:Cyp2a22 APN 7 26,637,525 (GRCm39) missense probably benign 0.00
IGL02813:Cyp2a22 APN 7 26,635,859 (GRCm39) missense probably benign 0.19
IGL02896:Cyp2a22 APN 7 26,635,886 (GRCm39) missense probably damaging 0.98
IGL03193:Cyp2a22 APN 7 26,635,846 (GRCm39) missense probably benign 0.00
IGL03350:Cyp2a22 APN 7 26,634,279 (GRCm39) missense possibly damaging 0.88
R1648:Cyp2a22 UTSW 7 26,631,793 (GRCm39) missense probably damaging 0.98
R1679:Cyp2a22 UTSW 7 26,635,736 (GRCm39) nonsense probably null
R1733:Cyp2a22 UTSW 7 26,634,187 (GRCm39) missense possibly damaging 0.78
R2001:Cyp2a22 UTSW 7 26,634,197 (GRCm39) missense probably damaging 1.00
R2858:Cyp2a22 UTSW 7 26,633,687 (GRCm39) missense probably damaging 0.99
R4528:Cyp2a22 UTSW 7 26,634,194 (GRCm39) missense possibly damaging 0.95
R4623:Cyp2a22 UTSW 7 26,632,916 (GRCm39) missense probably damaging 1.00
R4669:Cyp2a22 UTSW 7 26,637,280 (GRCm39) missense possibly damaging 0.88
R4690:Cyp2a22 UTSW 7 26,638,634 (GRCm39) nonsense probably null
R4840:Cyp2a22 UTSW 7 26,631,949 (GRCm39) missense probably benign 0.13
R4915:Cyp2a22 UTSW 7 26,637,195 (GRCm39) missense probably benign 0.33
R5071:Cyp2a22 UTSW 7 26,631,906 (GRCm39) missense probably benign 0.01
R5072:Cyp2a22 UTSW 7 26,631,906 (GRCm39) missense probably benign 0.01
R5074:Cyp2a22 UTSW 7 26,631,906 (GRCm39) missense probably benign 0.01
R5147:Cyp2a22 UTSW 7 26,635,750 (GRCm39) missense probably damaging 1.00
R5363:Cyp2a22 UTSW 7 26,635,858 (GRCm39) missense probably damaging 0.99
R5705:Cyp2a22 UTSW 7 26,638,640 (GRCm39) missense probably benign 0.05
R6014:Cyp2a22 UTSW 7 26,638,605 (GRCm39) splice site probably null
R6042:Cyp2a22 UTSW 7 26,633,664 (GRCm39) missense probably damaging 1.00
R6253:Cyp2a22 UTSW 7 26,633,657 (GRCm39) missense probably benign 0.18
R6757:Cyp2a22 UTSW 7 26,638,629 (GRCm39) missense probably benign 0.00
R6994:Cyp2a22 UTSW 7 26,638,606 (GRCm39) critical splice donor site probably null
R7581:Cyp2a22 UTSW 7 26,637,573 (GRCm39) missense possibly damaging 0.87
R8212:Cyp2a22 UTSW 7 26,637,205 (GRCm39) missense possibly damaging 0.89
R9225:Cyp2a22 UTSW 7 26,637,202 (GRCm39) missense possibly damaging 0.81
R9749:Cyp2a22 UTSW 7 26,638,715 (GRCm39) missense probably null 0.41
Predicted Primers PCR Primer
(F):5'- CCACACTGGAAAAGGCTTCTAAG -3'
(R):5'- ACTAGTGGGGTTTAGAAGGCTC -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- CTCTGGAGCTATTTCAAGACTTTG -3'
Posted On 2015-02-05