Incidental Mutation 'R1374:Cyp2a4'
ID 157441
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 039438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R1374 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 26006617-26014513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26012348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 377 (D377G)
Ref Sequence ENSEMBL: ENSMUSP00000096254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098657]
AlphaFold P15392
Predicted Effect probably damaging
Transcript: ENSMUST00000098657
AA Change: D377G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: D377G

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:p450 34 491 8.9e-151 PFAM
Meta Mutation Damage Score 0.8268 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 90.1%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5z1 G A 5: 142,456,213 (GRCm39) R344H probably damaging Het
Ccdc38 C T 10: 93,418,296 (GRCm39) probably benign Het
Cd47 T C 16: 49,714,543 (GRCm39) L184P probably damaging Het
Cps1 T C 1: 67,269,440 (GRCm39) S1480P probably damaging Het
Ddb1 G A 19: 10,585,682 (GRCm39) G132D probably damaging Het
Dlgap2 T C 8: 14,881,228 (GRCm39) probably benign Het
Epg5 A G 18: 78,024,541 (GRCm39) D1132G probably benign Het
Fam184b T C 5: 45,712,485 (GRCm39) E511G probably benign Het
Fbn1 T A 2: 125,188,354 (GRCm39) D1495V probably damaging Het
Gpatch1 A T 7: 34,991,187 (GRCm39) L619Q probably damaging Het
Inpp4b T G 8: 82,470,445 (GRCm39) probably null Het
Kifc1 T C 17: 34,102,849 (GRCm39) R192G probably benign Het
Klhl30 C T 1: 91,288,798 (GRCm39) T519M probably damaging Het
Klhl8 A C 5: 104,011,049 (GRCm39) L516R probably damaging Het
Meikin T A 11: 54,289,270 (GRCm39) probably benign Het
Mlph T A 1: 90,869,425 (GRCm39) S476T probably damaging Het
Neb T C 2: 52,133,401 (GRCm39) Y3379C probably damaging Het
Nfxl1 G A 5: 72,681,488 (GRCm39) T681I probably benign Het
Nhsl3 A G 4: 129,116,082 (GRCm39) S849P possibly damaging Het
Obox1 A T 7: 15,289,426 (GRCm39) probably benign Het
Oplah G A 15: 76,190,755 (GRCm39) R31C probably damaging Het
Polb T C 8: 23,143,073 (GRCm39) probably benign Het
Ppfibp2 A G 7: 107,285,195 (GRCm39) probably benign Het
Prr12 A G 7: 44,695,642 (GRCm39) S1275P unknown Het
Ptcd3 C A 6: 71,885,637 (GRCm39) E30* probably null Het
Ranbp2 T C 10: 58,321,715 (GRCm39) probably benign Het
Rapgef2 A G 3: 78,995,275 (GRCm39) V791A probably benign Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Rims1 G A 1: 22,367,172 (GRCm39) T1176M probably damaging Het
Ripor2 T C 13: 24,857,095 (GRCm39) probably null Het
Sae1 A G 7: 16,112,333 (GRCm39) I60T probably damaging Het
Tenm2 T C 11: 35,899,281 (GRCm39) T2626A probably benign Het
Trrap A G 5: 144,783,428 (GRCm39) Q3419R probably damaging Het
Vill C A 9: 118,890,562 (GRCm39) N158K probably benign Het
Zbtb14 A G 17: 69,694,575 (GRCm39) N91S probably damaging Het
Zfp248 A G 6: 118,410,334 (GRCm39) L25P probably damaging Het
Zmym1 T A 4: 126,943,404 (GRCm39) K230I probably 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
R1473:Cyp2a4 UTSW 7 26,014,188 (GRCm39) missense probably benign
R1580:Cyp2a4 UTSW 7 26,007,076 (GRCm39) missense possibly damaging 0.91
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'- TGGTGCAATTCACACAGATCCCAAG -3'
(R):5'- TGGCAGAGAAAGCCTGTCACTGAG -3'

Sequencing Primer
(F):5'- AATGCCATACAATGTTCCCTGG -3'
(R):5'- TGTCACTGAGGCACCAAG -3'
Posted On 2014-02-18