Incidental Mutation 'R6668:Cyp24a1'
ID 527054
Institutional Source Beutler Lab
Gene Symbol Cyp24a1
Ensembl Gene ENSMUSG00000038567
Gene Name cytochrome P450, family 24, subfamily a, polypeptide 1
Synonyms Cyp24, 25-hydroxyvitamin D-24-hydroxylase, CP24, 24-OHase
MMRRC Submission 044788-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R6668 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 170324877-170339065 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 170327805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000047954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038824]
AlphaFold Q64441
Predicted Effect probably null
Transcript: ENSMUST00000038824
SMART Domains Protein: ENSMUSP00000047954
Gene: ENSMUSG00000038567

DomainStartEndE-ValueType
Pfam:p450 58 511 6e-108 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: The protein encoded by this gene localizes to the mitochondrion, where it degrades calcitriol to calcitetrol. This gene is upregulated by binding of calcitriol to the upstream regulatory region and to a downstream enhancer region, thereby allowing calcitriol to autoregulate its concentration in the cell. The encoded protein may also play a role in calcium homeostasis. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruption of this gene suffer a 50% mortality rate between birth and weaning. abnormalities are seen in the development of membranous bones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat G T 11: 116,486,868 (GRCm39) probably benign Het
Adam26b A T 8: 43,973,727 (GRCm39) V425D possibly damaging Het
Ahctf1 A G 1: 179,579,972 (GRCm39) S2077P probably benign Het
Amacr A G 15: 10,983,468 (GRCm39) T93A probably benign Het
Arsb T A 13: 93,930,728 (GRCm39) probably null Het
Bcas3 G A 11: 85,692,677 (GRCm39) R354Q probably damaging Het
Chia1 C T 3: 106,038,264 (GRCm39) L387F probably damaging Het
Dennd4a G A 9: 64,794,247 (GRCm39) G689S probably damaging Het
Elovl4 G A 9: 83,688,039 (GRCm39) A18V probably benign Het
Fam135a A T 1: 24,067,929 (GRCm39) V80E probably damaging Het
Fmo2 T A 1: 162,704,617 (GRCm39) T430S probably benign Het
Fpgs T C 2: 32,577,618 (GRCm39) I213V probably benign Het
Gm10134 A T 2: 28,396,263 (GRCm39) R53* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Ift172 T C 5: 31,412,683 (GRCm39) N1524S probably benign Het
Kif1b G A 4: 149,297,864 (GRCm39) S1104F probably benign Het
Map3k21 T C 8: 126,652,852 (GRCm39) V326A possibly damaging Het
Mlst8 A G 17: 24,696,453 (GRCm39) probably null Het
Muc16 A T 9: 18,551,681 (GRCm39) S4871T probably benign Het
Myo1d A G 11: 80,474,701 (GRCm39) probably benign Het
Ndufa3 A G 7: 3,622,465 (GRCm39) Y41C probably damaging Het
Nfkbid T A 7: 30,123,866 (GRCm39) L142Q probably benign Het
Or8b38 T A 9: 37,973,066 (GRCm39) M150K possibly damaging Het
Peg10 T A 6: 4,754,502 (GRCm39) D94E probably benign Het
Phactr3 A T 2: 177,974,657 (GRCm39) I492F probably damaging Het
Plxna2 T C 1: 194,492,396 (GRCm39) V1751A possibly damaging Het
Prss16 T C 13: 22,190,918 (GRCm39) E238G probably null Het
Rad51ap2 T C 12: 11,507,647 (GRCm39) V523A probably benign Het
Rbm33 T A 5: 28,547,498 (GRCm39) S223T probably benign Het
Ryk T A 9: 102,746,475 (GRCm39) F137I possibly damaging Het
Sars2 G A 7: 28,446,429 (GRCm39) E194K probably benign Het
Spata2l T C 8: 123,960,167 (GRCm39) D374G probably damaging Het
Tenm2 A G 11: 35,937,592 (GRCm39) probably null Het
Ubr4 A G 4: 139,192,652 (GRCm39) K1097E probably damaging Het
Ulk4 A T 9: 121,017,408 (GRCm39) V690E probably damaging Het
Usp34 A G 11: 23,410,659 (GRCm39) N2703S probably damaging Het
Zfp273 C G 13: 67,973,243 (GRCm39) L124V probably damaging Het
Zfp608 A G 18: 55,031,091 (GRCm39) S950P probably damaging Het
Zfp994 A T 17: 22,420,081 (GRCm39) H289Q probably damaging Het
Other mutations in Cyp24a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Cyp24a1 APN 2 170,338,486 (GRCm39) missense probably damaging 1.00
IGL02187:Cyp24a1 APN 2 170,336,013 (GRCm39) missense probably damaging 1.00
IGL02269:Cyp24a1 APN 2 170,338,492 (GRCm39) missense probably damaging 1.00
IGL02273:Cyp24a1 APN 2 170,338,278 (GRCm39) missense probably damaging 1.00
IGL03089:Cyp24a1 APN 2 170,327,886 (GRCm39) missense probably damaging 1.00
R0359:Cyp24a1 UTSW 2 170,333,619 (GRCm39) missense possibly damaging 0.94
R1037:Cyp24a1 UTSW 2 170,333,537 (GRCm39) missense probably damaging 1.00
R1243:Cyp24a1 UTSW 2 170,337,326 (GRCm39) missense probably benign 0.28
R1601:Cyp24a1 UTSW 2 170,327,611 (GRCm39) missense possibly damaging 0.48
R1696:Cyp24a1 UTSW 2 170,327,963 (GRCm39) missense probably benign 0.10
R1839:Cyp24a1 UTSW 2 170,338,661 (GRCm39) missense probably benign
R1845:Cyp24a1 UTSW 2 170,329,837 (GRCm39) missense probably benign 0.06
R4832:Cyp24a1 UTSW 2 170,338,098 (GRCm39) missense probably benign 0.07
R5649:Cyp24a1 UTSW 2 170,338,229 (GRCm39) missense possibly damaging 0.87
R6320:Cyp24a1 UTSW 2 170,328,704 (GRCm39) missense probably benign 0.13
R6823:Cyp24a1 UTSW 2 170,329,899 (GRCm39) missense probably benign 0.12
R6953:Cyp24a1 UTSW 2 170,329,866 (GRCm39) missense probably benign
R7136:Cyp24a1 UTSW 2 170,336,063 (GRCm39) missense probably benign 0.15
R7287:Cyp24a1 UTSW 2 170,327,826 (GRCm39) missense probably damaging 1.00
R7831:Cyp24a1 UTSW 2 170,327,860 (GRCm39) missense probably damaging 1.00
R7893:Cyp24a1 UTSW 2 170,338,436 (GRCm39) critical splice donor site probably null
R8193:Cyp24a1 UTSW 2 170,327,622 (GRCm39) missense probably damaging 1.00
R8206:Cyp24a1 UTSW 2 170,333,589 (GRCm39) missense possibly damaging 0.83
R8296:Cyp24a1 UTSW 2 170,332,036 (GRCm39) missense probably damaging 1.00
R8384:Cyp24a1 UTSW 2 170,328,689 (GRCm39) critical splice donor site probably null
R9005:Cyp24a1 UTSW 2 170,336,005 (GRCm39) missense probably damaging 1.00
R9091:Cyp24a1 UTSW 2 170,327,853 (GRCm39) missense probably damaging 1.00
R9226:Cyp24a1 UTSW 2 170,338,277 (GRCm39) missense probably damaging 1.00
R9270:Cyp24a1 UTSW 2 170,327,853 (GRCm39) missense probably damaging 1.00
R9776:Cyp24a1 UTSW 2 170,338,625 (GRCm39) missense probably benign 0.10
X0061:Cyp24a1 UTSW 2 170,327,910 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TACCGTGGACAGAACGCAATG -3'
(R):5'- CTTAACACTAAATACCCAAGTGCTG -3'

Sequencing Primer
(F):5'- AACGCAATGGGCAGCTC -3'
(R):5'- CTGGGCTCTAGCGAAGACAATTTTG -3'
Posted On 2018-07-23