Incidental Mutation 'R2878:Cyp2a4'
ID 260171
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 040466-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R2878 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 26006617-26014513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26011612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 278 (E278K)
Ref Sequence ENSEMBL: ENSMUSP00000096254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098657]
AlphaFold P15392
Predicted Effect possibly damaging
Transcript: ENSMUST00000098657
AA Change: E278K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: E278K

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 0.4468 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 92% (58/63)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,241,889 (GRCm39) L1251F possibly damaging Het
Accsl A T 2: 93,689,755 (GRCm39) M384K probably damaging Het
Adgrg7 A G 16: 56,570,817 (GRCm39) F404L probably benign Het
Akr1c20 G A 13: 4,557,774 (GRCm39) T251M probably damaging Het
Amph G A 13: 19,288,437 (GRCm39) V309I possibly damaging Het
Ano2 T G 6: 125,840,481 (GRCm39) F384C probably damaging Het
Aplf G A 6: 87,645,409 (GRCm39) R32* probably null Het
Arhgef18 A G 8: 3,482,759 (GRCm39) M155V probably benign Het
Atg2b A T 12: 105,630,268 (GRCm39) Y374* probably null Het
Camkmt T C 17: 85,738,979 (GRCm39) probably benign Het
Capn2 T A 1: 182,344,798 (GRCm39) E41V probably benign Het
Cd53 T C 3: 106,674,732 (GRCm39) T112A probably benign Het
Dact2 A T 17: 14,416,176 (GRCm39) S675T probably damaging Het
Dync1li2 A C 8: 105,156,047 (GRCm39) Y265D probably damaging Het
Eml4 T A 17: 83,717,603 (GRCm39) H58Q probably benign Het
F13b T C 1: 139,429,485 (GRCm39) M1T probably null Het
Fam83b A G 9: 76,398,092 (GRCm39) F1004L probably damaging Het
Fbxo48 A G 11: 16,903,382 (GRCm39) K3E possibly damaging Het
Fbxw13 A G 9: 109,010,534 (GRCm39) F368S probably damaging Het
Fbxw19 A T 9: 109,315,038 (GRCm39) W175R probably damaging Het
Fibcd1 G A 2: 31,728,678 (GRCm39) P60S probably benign Het
Fscb A T 12: 64,519,348 (GRCm39) V706E unknown Het
Gfm2 A G 13: 97,289,757 (GRCm39) R181G possibly damaging Het
Gm17546 A T 15: 95,727,805 (GRCm39) probably benign Het
Grin1 A G 2: 25,187,641 (GRCm39) V594A probably damaging Het
Itpripl1 A G 2: 126,983,534 (GRCm39) V196A probably benign Het
Kcns1 A G 2: 164,006,682 (GRCm39) I427T probably damaging Het
Map3k19 T A 1: 127,751,530 (GRCm39) E607V possibly damaging Het
Map3k4 T C 17: 12,482,954 (GRCm39) S588G probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Naa80 A T 9: 107,460,367 (GRCm39) E87D possibly damaging Het
Nebl C A 2: 17,439,740 (GRCm39) D178Y probably damaging Het
Nfatc3 C A 8: 106,818,776 (GRCm39) T498K probably damaging Het
Nfkb2 G A 19: 46,295,880 (GRCm39) R158H possibly damaging Het
Obscn T C 11: 58,947,014 (GRCm39) E4337G possibly damaging Het
Or5b106 A G 19: 13,123,771 (GRCm39) L84P probably benign Het
Palb2 A G 7: 121,713,652 (GRCm39) V877A probably damaging Het
Rbm6 T C 9: 107,729,649 (GRCm39) E333G probably damaging Het
Rem2 A G 14: 54,713,819 (GRCm39) T31A possibly damaging Het
Ric1 A G 19: 29,579,730 (GRCm39) D1224G possibly damaging Het
Rp1 A G 1: 4,418,362 (GRCm39) S917P probably damaging Het
Scn2a G A 2: 65,518,715 (GRCm39) G363D probably damaging Het
Shcbp1l A T 1: 153,313,264 (GRCm39) probably benign Het
Skor2 G T 18: 76,948,419 (GRCm39) E714* probably null Het
Slc15a1 T A 14: 121,703,345 (GRCm39) K545N probably benign Het
Slc1a2 T A 2: 102,591,512 (GRCm39) M414K probably damaging Het
Slc7a8 A G 14: 54,997,143 (GRCm39) S70P probably damaging Het
Spopfm1 G T 3: 94,173,787 (GRCm39) C265F possibly damaging Het
Taf1a A G 1: 183,179,173 (GRCm39) E117G probably damaging Het
Trem2 A G 17: 48,658,141 (GRCm39) D135G probably benign Het
Ttn T C 2: 76,567,409 (GRCm39) D27828G probably damaging Het
Ulk4 T C 9: 121,089,105 (GRCm39) D258G probably benign Het
Unc80 TGTATTCCAGGCG TG 1: 66,710,735 (GRCm39) probably benign Het
Vmn2r56 A C 7: 12,444,954 (GRCm39) M433R probably benign Het
Wdr45 C T X: 7,593,611 (GRCm39) P271S probably damaging Het
Zfp410 A C 12: 84,378,411 (GRCm39) N245T 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
R1374:Cyp2a4 UTSW 7 26,012,348 (GRCm39) missense probably damaging 0.99
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
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'- ACCAGCTAAGTGATGACCGAC -3'
(R):5'- GGCAGACAGTTTAGATACAAGATGC -3'

Sequencing Primer
(F):5'- GTGATGACCGACAGAAGAACATTCC -3'
(R):5'- AGAATCTGTATCCATGTCACACTC -3'
Posted On 2015-01-23