Incidental Mutation 'R9323:Cyp2d22'
ID 706346
Institutional Source Beutler Lab
Gene Symbol Cyp2d22
Ensembl Gene ENSMUSG00000061740
Gene Name cytochrome P450, family 2, subfamily d, polypeptide 22
Synonyms 2D22
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R9323 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 82254728-82264461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82258207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 138 (S138P)
Ref Sequence ENSEMBL: ENSMUSP00000023083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023083] [ENSMUST00000228986]
AlphaFold Q9JKY7
Predicted Effect probably damaging
Transcript: ENSMUST00000023083
AA Change: S138P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023083
Gene: ENSMUSG00000061740
AA Change: S138P

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
Pfam:p450 37 497 8.1e-139 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228986
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat G A 16: 8,420,235 (GRCm39) W178* probably null Het
Alx1 G A 10: 102,858,124 (GRCm39) R192* probably null Het
Apom A G 17: 35,350,633 (GRCm39) C23R probably damaging Het
Asap2 A G 12: 21,162,148 (GRCm39) N35S probably benign Het
Atf6 A T 1: 170,682,682 (GRCm39) Y43* probably null Het
Atosa C T 9: 74,883,415 (GRCm39) probably benign Het
Bag4 T C 8: 26,261,361 (GRCm39) S127G possibly damaging Het
Bag4 G T 8: 26,275,180 (GRCm39) S7* probably null Het
Ccdc88b A G 19: 6,826,475 (GRCm39) L1080P probably damaging Het
Cdcp3 T A 7: 130,828,401 (GRCm39) N285K probably damaging Het
Cdkl2 A T 5: 92,168,107 (GRCm39) D362E probably benign Het
Cep170 A G 1: 176,586,068 (GRCm39) S575P probably benign Het
Col4a2 C T 8: 11,493,413 (GRCm39) P1374L possibly damaging Het
Cpt2 T C 4: 107,761,556 (GRCm39) H617R probably benign Het
Cyp2j11 T C 4: 96,195,619 (GRCm39) D359G probably benign Het
Ddb2 T C 2: 91,042,337 (GRCm39) S419G possibly damaging Het
Dmrtc2 A T 7: 24,572,341 (GRCm39) I121F probably benign Het
Dus1l C T 11: 120,684,724 (GRCm39) R149H probably damaging Het
Fam90a1a T A 8: 22,453,640 (GRCm39) Y332N probably benign Het
Fbxo47 A T 11: 97,770,254 (GRCm39) V46D probably benign Het
Grep1 A G 17: 23,937,387 (GRCm39) S54P unknown Het
Grpel1 T A 5: 36,628,007 (GRCm39) V96E possibly damaging Het
Ifi207 A T 1: 173,555,143 (GRCm39) N853K probably damaging Het
Igkv4-80 C T 6: 68,993,751 (GRCm39) A47T probably damaging Het
Il1a T A 2: 129,149,826 (GRCm39) I25F probably benign Het
Ireb2 T A 9: 54,811,523 (GRCm39) probably null Het
Itpr1 A G 6: 108,328,979 (GRCm39) Y131C probably damaging Het
Kmt2a T C 9: 44,731,261 (GRCm39) probably benign Het
Lancl1 T A 1: 67,077,794 (GRCm39) probably benign Het
Lpl G A 8: 69,340,196 (GRCm39) V64M possibly damaging Het
Marchf10 T C 11: 105,280,581 (GRCm39) H568R probably damaging Het
Mib1 G A 18: 10,775,685 (GRCm39) V546M probably damaging Het
Mss51 A T 14: 20,534,939 (GRCm39) I277N probably benign Het
Mybpc1 A G 10: 88,360,829 (GRCm39) probably null Het
Myct1 A C 10: 5,554,195 (GRCm39) I21L probably benign Het
Myo5c C A 9: 75,153,531 (GRCm39) A139E probably damaging Het
Nlrp4e C G 7: 23,020,755 (GRCm39) A414G probably benign Het
Npy2r A T 3: 82,447,728 (GRCm39) I349N possibly damaging Het
Nrap T C 19: 56,378,255 (GRCm39) I19V probably benign Het
Or10g7 T C 9: 39,905,360 (GRCm39) S85P possibly damaging Het
Or14j2 A C 17: 37,886,135 (GRCm39) Y60D probably damaging Het
Or52n20 T C 7: 104,320,220 (GRCm39) F104L possibly damaging Het
Or5p6 C T 7: 107,631,230 (GRCm39) V107I probably benign Het
Or6c3b A T 10: 129,527,829 (GRCm39) V27D probably benign Het
Or8d23 T C 9: 38,841,818 (GRCm39) V117A probably benign Het
Pde6b A T 5: 108,551,298 (GRCm39) N194I probably damaging Het
Polg TCTGGATGA TCTGGATGACTGGATGA 7: 79,114,779 (GRCm39) probably null Het
Polg GA GACTGGAGCA 7: 79,114,786 (GRCm39) probably null Het
Ptpn9 T C 9: 56,934,701 (GRCm39) M155T possibly damaging Het
Ret A G 6: 118,158,975 (GRCm39) Y146H probably benign Het
Sdf2l1 T C 16: 16,949,498 (GRCm39) H116R probably damaging Het
Shld2 A G 14: 33,981,596 (GRCm39) V514A probably damaging Het
Slc37a1 T C 17: 31,552,643 (GRCm39) I316T probably damaging Het
Slc4a11 A C 2: 130,528,830 (GRCm39) L473R possibly damaging Het
Smg7 A G 1: 152,731,753 (GRCm39) M344T probably benign Het
Smg9 T C 7: 24,114,465 (GRCm39) L268P probably damaging Het
Tiparp C T 3: 65,439,272 (GRCm39) T196I probably benign Het
Trappc12 A G 12: 28,742,491 (GRCm39) probably null Het
Trappc9 A T 15: 72,565,431 (GRCm39) N953K probably benign Het
Trpa1 A G 1: 14,968,564 (GRCm39) V428A probably benign Het
Utp20 T C 10: 88,583,170 (GRCm39) R2728G probably damaging Het
Zfp612 A G 8: 110,815,372 (GRCm39) E193G probably benign Het
Other mutations in Cyp2d22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Cyp2d22 APN 15 82,255,869 (GRCm39) missense probably damaging 1.00
IGL01750:Cyp2d22 APN 15 82,258,570 (GRCm39) missense probably benign 0.12
IGL01801:Cyp2d22 APN 15 82,257,046 (GRCm39) missense probably benign 0.41
IGL02449:Cyp2d22 APN 15 82,257,442 (GRCm39) missense probably benign 0.00
ANU22:Cyp2d22 UTSW 15 82,255,869 (GRCm39) missense probably damaging 1.00
R0165:Cyp2d22 UTSW 15 82,257,481 (GRCm39) missense probably benign 0.06
R0294:Cyp2d22 UTSW 15 82,258,646 (GRCm39) missense possibly damaging 0.86
R1381:Cyp2d22 UTSW 15 82,256,709 (GRCm39) missense probably benign 0.00
R1479:Cyp2d22 UTSW 15 82,256,137 (GRCm39) missense probably damaging 0.97
R1562:Cyp2d22 UTSW 15 82,258,179 (GRCm39) missense probably damaging 0.99
R1968:Cyp2d22 UTSW 15 82,257,373 (GRCm39) missense probably benign 0.04
R1972:Cyp2d22 UTSW 15 82,260,028 (GRCm39) missense probably benign 0.11
R4492:Cyp2d22 UTSW 15 82,258,571 (GRCm39) missense probably benign 0.00
R4575:Cyp2d22 UTSW 15 82,256,133 (GRCm39) missense possibly damaging 0.94
R4702:Cyp2d22 UTSW 15 82,260,118 (GRCm39) missense probably damaging 1.00
R4703:Cyp2d22 UTSW 15 82,260,118 (GRCm39) missense probably damaging 1.00
R5344:Cyp2d22 UTSW 15 82,255,839 (GRCm39) missense possibly damaging 0.95
R5523:Cyp2d22 UTSW 15 82,256,772 (GRCm39) missense probably damaging 1.00
R5888:Cyp2d22 UTSW 15 82,258,014 (GRCm39) missense probably benign
R6060:Cyp2d22 UTSW 15 82,260,086 (GRCm39) missense probably benign 0.00
R6108:Cyp2d22 UTSW 15 82,256,106 (GRCm39) missense possibly damaging 0.59
R6146:Cyp2d22 UTSW 15 82,258,036 (GRCm39) critical splice acceptor site probably null
R6279:Cyp2d22 UTSW 15 82,258,169 (GRCm39) missense probably damaging 1.00
R6563:Cyp2d22 UTSW 15 82,256,113 (GRCm39) missense probably damaging 1.00
R7597:Cyp2d22 UTSW 15 82,260,053 (GRCm39) missense probably damaging 1.00
R7709:Cyp2d22 UTSW 15 82,258,612 (GRCm39) missense possibly damaging 0.88
R7839:Cyp2d22 UTSW 15 82,256,772 (GRCm39) missense probably damaging 1.00
R8094:Cyp2d22 UTSW 15 82,258,556 (GRCm39) missense probably benign 0.19
R8302:Cyp2d22 UTSW 15 82,256,021 (GRCm39) critical splice donor site probably null
R8515:Cyp2d22 UTSW 15 82,258,113 (GRCm39) missense probably benign 0.27
R9245:Cyp2d22 UTSW 15 82,256,748 (GRCm39) missense probably damaging 0.97
R9521:Cyp2d22 UTSW 15 82,256,688 (GRCm39) missense probably damaging 1.00
Z1186:Cyp2d22 UTSW 15 82,260,086 (GRCm39) missense probably benign 0.00
Z1190:Cyp2d22 UTSW 15 82,260,086 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTAGGGCTGAAAGGGTGTCC -3'
(R):5'- AGGCACTCTGGGACCTAATTG -3'

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