Incidental Mutation 'R1580:Cyp2a4'
ID 171351
Institutional Source Beutler Lab
Gene Symbol Cyp2a4
Ensembl Gene ENSMUSG00000074254
Gene Name cytochrome P450, family 2, subfamily a, polypeptide 4
Synonyms Cyp15a1, D7Ucla4, testosterone 15alpha-hydroxylase
MMRRC Submission 039617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R1580 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 26006617-26014513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26007076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 61 (I61T)
Ref Sequence ENSEMBL: ENSMUSP00000096254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098657]
AlphaFold P15392
Predicted Effect possibly damaging
Transcript: ENSMUST00000098657
AA Change: I61T

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: I61T

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:p450 34 491 8.9e-151 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206226
Meta Mutation Damage Score 0.2635 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.8%
Validation Efficiency 96% (43/45)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,305,124 (GRCm39) V2044I possibly damaging Het
Adgrv1 A G 13: 81,614,279 (GRCm39) probably null Het
Arhgef38 T C 3: 132,839,465 (GRCm39) Q526R probably benign Het
Atp2c2 A G 8: 120,479,726 (GRCm39) N752D probably benign Het
Atp6v0a1 T C 11: 100,920,030 (GRCm39) I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 (GRCm39) V551A possibly damaging Het
B3galnt1 A G 3: 69,483,040 (GRCm39) S74P possibly damaging Het
Bcl2l13 A G 6: 120,842,675 (GRCm39) I123V probably benign Het
Brms1l A T 12: 55,915,007 (GRCm39) K305N probably damaging Het
Ccdc82 C T 9: 13,252,385 (GRCm39) R226C probably damaging Het
Chst9 T G 18: 15,586,122 (GRCm39) K147T probably benign Het
Clec16a A G 16: 10,413,762 (GRCm39) R390G probably damaging Het
Clec5a G T 6: 40,562,153 (GRCm39) H4N probably benign Het
Csmd1 T A 8: 15,975,299 (GRCm39) Q2970L probably damaging Het
Cyp3a16 T A 5: 145,378,884 (GRCm39) K379I possibly damaging Het
Cyp3a16 T C 5: 145,378,885 (GRCm39) K379E probably damaging Het
Dok2 A G 14: 71,014,397 (GRCm39) D195G probably benign Het
Emilin1 A G 5: 31,074,764 (GRCm39) E335G probably damaging Het
Gm7361 G T 5: 26,462,768 (GRCm39) L3F probably damaging Het
Haus1 T C 18: 77,854,620 (GRCm39) D50G probably damaging Het
Igf1r T C 7: 67,857,617 (GRCm39) V1099A probably benign Het
Kif15 T C 9: 122,789,021 (GRCm39) V71A probably benign Het
Klk10 C T 7: 43,432,286 (GRCm39) A73V probably damaging Het
Lins1 C A 7: 66,364,239 (GRCm39) D711E probably benign Het
Mbtps1 C T 8: 120,265,639 (GRCm39) V303I possibly damaging Het
Mest G A 6: 30,745,822 (GRCm39) probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or14c43 A G 7: 86,114,658 (GRCm39) E13G probably benign Het
Or6c210 G T 10: 129,496,184 (GRCm39) V170F probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rtf2 A G 2: 172,287,285 (GRCm39) D68G probably damaging Het
Sbspon C A 1: 15,962,692 (GRCm39) C62F probably damaging Het
Spata31f3 T C 4: 42,874,020 (GRCm39) probably null Het
Spg7 T A 8: 123,816,977 (GRCm39) probably benign Het
Trabd2b T C 4: 114,437,531 (GRCm39) V236A possibly damaging Het
Vmn2r10 A T 5: 109,154,117 (GRCm39) N62K possibly damaging Het
Vmn2r45 T G 7: 8,474,746 (GRCm39) S761R possibly damaging Het
Zfp580 C T 7: 5,056,284 (GRCm39) R215C probably damaging Het
Zfpm2 A G 15: 40,966,605 (GRCm39) D898G possibly damaging Het
Other mutations in Cyp2a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01533:Cyp2a4 APN 7 26,007,969 (GRCm39) missense probably damaging 1.00
IGL01609:Cyp2a4 APN 7 26,008,088 (GRCm39) critical splice donor site probably null
IGL01959:Cyp2a4 APN 7 26,007,133 (GRCm39) missense probably damaging 1.00
IGL02282:Cyp2a4 APN 7 26,008,472 (GRCm39) missense probably benign 0.01
IGL03053:Cyp2a4 APN 7 26,012,975 (GRCm39) splice site probably benign
IGL03168:Cyp2a4 APN 7 26,012,975 (GRCm39) splice site probably benign
R0393:Cyp2a4 UTSW 7 26,012,293 (GRCm39) missense possibly damaging 0.67
R0453:Cyp2a4 UTSW 7 26,012,258 (GRCm39) missense probably benign 0.22
R0825:Cyp2a4 UTSW 7 26,012,341 (GRCm39) missense probably benign 0.07
R0948:Cyp2a4 UTSW 7 26,010,213 (GRCm39) missense probably damaging 1.00
R1215:Cyp2a4 UTSW 7 26,014,226 (GRCm39) missense possibly damaging 0.75
R1222:Cyp2a4 UTSW 7 26,008,013 (GRCm39) missense possibly damaging 0.70
R1374:Cyp2a4 UTSW 7 26,012,348 (GRCm39) missense probably damaging 0.99
R1473:Cyp2a4 UTSW 7 26,014,188 (GRCm39) missense probably benign
R1768:Cyp2a4 UTSW 7 26,012,197 (GRCm39) missense possibly damaging 0.94
R1832:Cyp2a4 UTSW 7 26,011,635 (GRCm39) missense probably damaging 0.99
R1911:Cyp2a4 UTSW 7 26,008,399 (GRCm39) missense possibly damaging 0.85
R2080:Cyp2a4 UTSW 7 26,007,962 (GRCm39) missense possibly damaging 0.96
R2086:Cyp2a4 UTSW 7 26,011,733 (GRCm39) missense probably damaging 1.00
R2259:Cyp2a4 UTSW 7 26,008,460 (GRCm39) missense probably damaging 0.99
R2877:Cyp2a4 UTSW 7 26,011,612 (GRCm39) missense possibly damaging 0.95
R2878:Cyp2a4 UTSW 7 26,011,612 (GRCm39) missense possibly damaging 0.95
R3732:Cyp2a4 UTSW 7 26,012,252 (GRCm39) missense probably damaging 1.00
R3732:Cyp2a4 UTSW 7 26,012,252 (GRCm39) missense probably damaging 1.00
R3733:Cyp2a4 UTSW 7 26,012,252 (GRCm39) missense probably damaging 1.00
R3734:Cyp2a4 UTSW 7 26,012,252 (GRCm39) missense probably damaging 1.00
R3741:Cyp2a4 UTSW 7 26,007,969 (GRCm39) missense probably damaging 1.00
R4079:Cyp2a4 UTSW 7 26,006,791 (GRCm39) missense probably benign 0.22
R4297:Cyp2a4 UTSW 7 26,006,793 (GRCm39) missense probably damaging 0.96
R4785:Cyp2a4 UTSW 7 26,012,300 (GRCm39) missense probably damaging 1.00
R4998:Cyp2a4 UTSW 7 26,006,786 (GRCm39) missense probably damaging 1.00
R5297:Cyp2a4 UTSW 7 26,011,629 (GRCm39) missense probably benign 0.07
R5893:Cyp2a4 UTSW 7 26,008,353 (GRCm39) missense probably damaging 1.00
R5942:Cyp2a4 UTSW 7 26,010,129 (GRCm39) critical splice acceptor site probably null
R6262:Cyp2a4 UTSW 7 26,011,655 (GRCm39) missense probably damaging 0.99
R6612:Cyp2a4 UTSW 7 26,008,072 (GRCm39) missense probably benign 0.00
R6722:Cyp2a4 UTSW 7 26,012,983 (GRCm39) missense probably benign 0.04
R7064:Cyp2a4 UTSW 7 26,011,732 (GRCm39) missense probably benign 0.02
R7419:Cyp2a4 UTSW 7 26,014,188 (GRCm39) missense probably benign 0.00
R7562:Cyp2a4 UTSW 7 26,012,321 (GRCm39) missense possibly damaging 0.88
R8231:Cyp2a4 UTSW 7 26,012,362 (GRCm39) missense probably benign 0.00
R8750:Cyp2a4 UTSW 7 26,012,209 (GRCm39) missense probably benign 0.00
R8789:Cyp2a4 UTSW 7 26,007,106 (GRCm39) missense probably damaging 1.00
R9129:Cyp2a4 UTSW 7 26,014,136 (GRCm39) missense probably benign 0.01
R9502:Cyp2a4 UTSW 7 26,008,004 (GRCm39) missense probably benign 0.01
R9523:Cyp2a4 UTSW 7 26,011,688 (GRCm39) missense probably damaging 1.00
Z1176:Cyp2a4 UTSW 7 26,010,266 (GRCm39) missense probably damaging 1.00
Z1176:Cyp2a4 UTSW 7 26,006,748 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAACTCTCTCATGAAGGTGCCACTG -3'
(R):5'- ATGATGCTCTCAAATGTCCTCTGCC -3'

Sequencing Primer
(F):5'- CCACTGGGCATGGAGATG -3'
(R):5'- TCATTCCCCTGTGTCAAGAC -3'
Posted On 2014-04-13