Incidental Mutation 'R3733:Cyp2a4'
ID 271088
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R3733 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 26006617-26014513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26012252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 345 (D345G)
Ref Sequence ENSEMBL: ENSMUSP00000096254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098657]
AlphaFold P15392
Predicted Effect probably damaging
Transcript: ENSMUST00000098657
AA Change: D345G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096254
Gene: ENSMUSG00000074254
AA Change: D345G

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:p450 34 491 8.9e-151 PFAM
Meta Mutation Damage Score 0.8548 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,037,892 (GRCm39) probably null Het
Adgrl3 C A 5: 81,942,793 (GRCm39) H1474Q probably benign Het
Adgrv1 T C 13: 81,705,075 (GRCm39) I1578M probably damaging Het
Bcl7b A G 5: 135,209,767 (GRCm39) T141A probably benign Het
Cfap97d1 C T 11: 101,879,278 (GRCm39) Q17* probably null Het
Chrna3 T C 9: 54,923,178 (GRCm39) K210R probably benign Het
Cpsf2 T C 12: 101,953,567 (GRCm39) I199T probably damaging Het
Cyp2s1 C T 7: 25,503,379 (GRCm39) R424Q probably null Het
D1Pas1 C A 1: 186,700,294 (GRCm39) S74R probably benign Het
Edem1 T C 6: 108,818,582 (GRCm39) F197L probably damaging Het
Ergic2 T C 6: 148,104,020 (GRCm39) D79G probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 T C 8: 45,406,306 (GRCm39) V1019A possibly damaging Het
Fbxl21 T A 13: 56,674,830 (GRCm39) H60Q probably benign Het
Fbxw7 A C 3: 84,833,014 (GRCm39) K19Q possibly damaging Het
Gldn A G 9: 54,245,946 (GRCm39) K499R possibly damaging Het
Gria4 C T 9: 4,513,295 (GRCm39) M271I probably benign Het
Herc1 C T 9: 66,352,922 (GRCm39) T2136I probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Iqcg G T 16: 32,873,996 (GRCm39) probably benign Het
Itih2 A T 2: 10,110,481 (GRCm39) F537I probably benign Het
Itpr2 T C 6: 146,284,198 (GRCm39) D533G probably damaging Het
Lag3 A T 6: 124,887,103 (GRCm39) S155T probably benign Het
Lars1 T C 18: 42,345,667 (GRCm39) E1003G probably benign Het
Layn T A 9: 50,970,844 (GRCm39) N233I probably damaging Het
Lgi1 T C 19: 38,294,694 (GRCm39) Y465H probably damaging Het
Lrig1 C T 6: 94,588,557 (GRCm39) A531T possibly damaging Het
Mrps18b G A 17: 36,221,759 (GRCm39) P97S probably damaging Het
Mtx2 C A 2: 74,677,606 (GRCm39) A22E probably damaging Het
Nipal3 T C 4: 135,191,157 (GRCm39) T325A probably damaging Het
Ola1 G C 2: 72,987,204 (GRCm39) R143G probably damaging Het
Otog A G 7: 45,937,792 (GRCm39) T1834A probably benign Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Pcdh18 T C 3: 49,709,240 (GRCm39) S692G probably benign Het
Pkd2 G A 5: 104,637,285 (GRCm39) probably null Het
Robo2 A C 16: 73,717,635 (GRCm39) L1159W possibly damaging Het
Sfxn5 T C 6: 85,276,258 (GRCm39) probably benign Het
Siah2 A G 3: 58,583,671 (GRCm39) V205A probably damaging Het
Spindoc A C 19: 7,351,666 (GRCm39) L202R probably damaging Het
Spock3 T A 8: 63,798,733 (GRCm39) D251E probably damaging Het
Stk4 T A 2: 163,930,828 (GRCm39) M143K probably benign Het
Trpc3 A T 3: 36,692,708 (GRCm39) D761E probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Wapl G A 14: 34,458,721 (GRCm39) V928I probably damaging Het
Zfand3 A G 17: 30,411,630 (GRCm39) K130R probably benign 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
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
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'- AAGAAGCAGTTTCACCAATGCATG -3'
(R):5'- TGGACTCTGAGGAGAAGGTC -3'

Sequencing Primer
(F):5'- GCAGTTTCACCAATGCATGATTTG -3'
(R):5'- AAGGTCCTAGAGGCCCATG -3'
Posted On 2015-03-18