Incidental Mutation 'R8296:Cyp24a1'
ID 638921
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 067785-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R8296 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 170324877-170339065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 170332036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 330 (T330M)
Ref Sequence ENSEMBL: ENSMUSP00000047954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038824]
AlphaFold Q64441
Predicted Effect probably damaging
Transcript: ENSMUST00000038824
AA Change: T330M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047954
Gene: ENSMUSG00000038567
AA Change: T330M

DomainStartEndE-ValueType
Pfam:p450 58 511 6e-108 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,415,896 (GRCm39) L663Q probably damaging Het
2610008E11Rik C G 10: 78,903,568 (GRCm39) R249S probably benign Het
6030469F06Rik A G 12: 31,235,058 (GRCm39) N146S noncoding transcript Het
Abcb5 G A 12: 118,838,467 (GRCm39) P1032S probably benign Het
Acvr2a A T 2: 48,789,736 (GRCm39) D493V possibly damaging Het
Amacr A G 15: 10,995,004 (GRCm39) D272G probably benign Het
Bach1 A C 16: 87,526,467 (GRCm39) K643T probably damaging Het
Bmt2 T C 6: 13,628,672 (GRCm39) Y337C probably damaging Het
Bsn A G 9: 107,994,578 (GRCm39) S566P probably benign Het
Cass4 A C 2: 172,269,094 (GRCm39) D392A probably benign Het
Cbx2 A G 11: 118,918,954 (GRCm39) E173G probably damaging Het
Ccdc166 G C 15: 75,852,860 (GRCm39) A369G probably benign Het
Ccdc77 G A 6: 120,308,870 (GRCm39) T315M possibly damaging Het
Ceacam10 C A 7: 24,480,513 (GRCm39) H215N unknown Het
Ces1e C T 8: 93,929,947 (GRCm39) M445I probably benign Het
Ces2b T G 8: 105,563,112 (GRCm39) V350G possibly damaging Het
Chtf18 A G 17: 25,941,165 (GRCm39) L611P probably benign Het
Col9a1 C A 1: 24,217,380 (GRCm39) P19T unknown Het
Csf1r A T 18: 61,250,750 (GRCm39) N487I probably damaging Het
Csl A T 10: 99,594,161 (GRCm39) H301Q probably damaging Het
Ddb2 T C 2: 91,042,645 (GRCm39) D405G probably damaging Het
Degs1 A G 1: 182,110,241 (GRCm39) F10L probably benign Het
Dhrs2 T A 14: 55,477,928 (GRCm39) I220N probably damaging Het
Dlg5 T C 14: 24,198,328 (GRCm39) D1535G possibly damaging Het
Dpy19l1 A G 9: 24,414,372 (GRCm39) S19P probably benign Het
Eif3l A C 15: 78,963,220 (GRCm39) E134A possibly damaging Het
Epb41 C A 4: 131,664,772 (GRCm39) V90L Het
Flad1 A T 3: 89,316,109 (GRCm39) V151D probably damaging Het
Gja10 A T 4: 32,601,568 (GRCm39) I272N probably benign Het
Glmp T A 3: 88,233,580 (GRCm39) D178E probably benign Het
Gm16494 G A 17: 47,327,750 (GRCm39) P45S probably damaging Het
Gm4553 T C 7: 141,719,458 (GRCm39) D6G unknown Het
Grid2 G A 6: 63,233,929 (GRCm39) probably null Het
Icmt A G 4: 152,387,482 (GRCm39) M226V probably benign Het
Igkv5-39 T C 6: 69,877,607 (GRCm39) S50G probably benign Het
Ints5 T C 19: 8,872,484 (GRCm39) S148P probably damaging Het
Itga2b A C 11: 102,351,985 (GRCm39) V504G possibly damaging Het
Krt20 T A 11: 99,323,063 (GRCm39) Y253F probably damaging Het
Man2a2 T A 7: 80,018,656 (GRCm39) I68L probably damaging Het
Mpi G A 9: 57,455,954 (GRCm39) T176I probably benign Het
Msh6 C T 17: 88,294,340 (GRCm39) R1032C probably damaging Het
Myot C T 18: 44,475,416 (GRCm39) T179I probably damaging Het
Neb A G 2: 52,116,601 (GRCm39) S946P Het
Notch3 G A 17: 32,341,713 (GRCm39) A2013V probably damaging Het
Nr1d1 T C 11: 98,662,133 (GRCm39) Y167C probably damaging Het
Or52h7 T A 7: 104,213,593 (GRCm39) F55Y probably benign Het
Or52n2c T C 7: 104,574,828 (GRCm39) I48V probably benign Het
Or7g32 A G 9: 19,408,377 (GRCm39) E111G probably damaging Het
Or8k40 A C 2: 86,584,893 (GRCm39) L63R probably damaging Het
P4ha3 G A 7: 99,966,309 (GRCm39) V485M probably damaging Het
Pbk T A 14: 66,054,185 (GRCm39) C243* probably null Het
Pde4b T A 4: 102,459,983 (GRCm39) L388H possibly damaging Het
Pecam1 T C 11: 106,579,745 (GRCm39) D439G probably benign Het
Pknox2 A T 9: 36,822,459 (GRCm39) M230K probably benign Het
Plekhh2 A G 17: 84,908,113 (GRCm39) I1185V probably damaging Het
Polr3g A G 13: 81,842,682 (GRCm39) V111A unknown Het
Prkcg G C 7: 3,377,580 (GRCm39) E562D probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf123 A T 9: 107,940,089 (GRCm39) V768D probably damaging Het
Rps16 T A 7: 28,052,008 (GRCm39) S129T probably benign Het
Scg2 A T 1: 79,413,222 (GRCm39) N460K probably benign Het
Sct T C 7: 140,858,807 (GRCm39) S42G probably damaging Het
Spef2 A T 15: 9,727,629 (GRCm39) N151K probably benign Het
Syce1l C A 8: 114,380,721 (GRCm39) D144E possibly damaging Het
Syt17 T C 7: 118,036,069 (GRCm39) Y99C probably damaging Het
Tgfbr3 T C 5: 107,287,640 (GRCm39) N520D probably damaging Het
Thsd7b A G 1: 129,523,193 (GRCm39) S76G probably benign Het
Tmem63a G T 1: 180,788,685 (GRCm39) V341F probably benign Het
Trim5 A G 7: 103,914,993 (GRCm39) S359P probably damaging Het
Tst A T 15: 78,284,020 (GRCm39) V269E probably damaging Het
Ubr3 A T 2: 69,784,706 (GRCm39) I808F probably null Het
Ugt3a1 T A 15: 9,362,024 (GRCm39) Y267N probably benign Het
Wwc1 A T 11: 35,761,384 (GRCm39) probably benign Het
Zfp36l2 G T 17: 84,494,552 (GRCm39) N28K probably damaging Het
Zfp57 A G 17: 37,321,136 (GRCm39) D330G probably benign Het
Zgrf1 C A 3: 127,377,644 (GRCm39) S963Y probably damaging Het
Zranb2 A G 3: 157,247,412 (GRCm39) K197E unknown 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
R6668:Cyp24a1 UTSW 2 170,327,805 (GRCm39) critical splice donor site probably null
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
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'- TGTGCTTAGCATCCCTACAGC -3'
(R):5'- TCATGACTCAGTGCTGCAAGG -3'

Sequencing Primer
(F):5'- TACAGCGCTCAATGTGGGACTC -3'
(R):5'- CATGACTCAGTGCTGCAAGGTTTTC -3'
Posted On 2020-07-28