Mutagenetix > Incidental Mutation

Incidental Mutation 'R9776:Cyp24a1'

733680

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.432) question?

Stock #

R9776 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

170324877-170339065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 170338625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 24 (P24S)

Ref Sequence

ENSEMBL: ENSMUSP00000047954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038824] [ENSMUST00000075087]

AlphaFold

Q64441

Predicted Effect

probably benign
Transcript: ENSMUST00000038824
AA Change: P24S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000047954
Gene: ENSMUSG00000038567
AA Change: P24S

Domain	Start	End	E-Value	Type
Pfam:p450	58	511	6e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075087

SMART Domains

Protein: ENSMUSP00000074596
Gene: ENSMUSG00000052033

Domain	Start	End	E-Value	Type
Pfam:Prefoldin_2	1	69	1.9e-18	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	G	5: 113,861,765 (GRCm39)	Q35P	unknown	Het
2010109A12Rik	T	A	5: 93,361,305 (GRCm39)	*120K	probably null	Het
2700049A03Rik	A	G	12: 71,235,448 (GRCm39)	T1133A	possibly damaging	Het
A830005F24Rik	G	A	13: 48,667,758 (GRCm39)	R20Q	unknown	Het
Acta2	T	C	19: 34,223,481 (GRCm39)	T205A	probably benign	Het
Adcy5	A	G	16: 35,100,725 (GRCm39)	D759G	probably damaging	Het
Ankk1	T	A	9: 49,330,714 (GRCm39)	M276L	probably benign	Het
Arfgef2	G	A	2: 166,713,447 (GRCm39)	E1283K	probably damaging	Het
Arhgef26	G	T	3: 62,246,803 (GRCm39)		probably benign	Het
Arhgef28	A	C	13: 98,133,415 (GRCm39)	S351A	probably benign	Het
Arih2	C	T	9: 108,484,504 (GRCm39)	G436S	probably damaging	Het
Bptf	T	C	11: 106,969,396 (GRCm39)	T1013A	probably damaging	Het
Camsap1	A	T	2: 25,828,166 (GRCm39)	V1186E	probably benign	Het
Capn10	G	T	1: 92,871,586 (GRCm39)	A395S	possibly damaging	Het
Ccdc184	A	T	15: 98,066,737 (GRCm39)	T181S	probably damaging	Het
Clasp1	T	C	1: 118,509,108 (GRCm39)	I1345T	possibly damaging	Het
Cpsf1	A	T	15: 76,486,779 (GRCm39)	H252Q	probably damaging	Het
Ctnna2	T	A	6: 77,582,172 (GRCm39)	M363L	probably benign	Het
D130040H23Rik	A	G	8: 69,755,566 (GRCm39)	H341R	probably damaging	Het
Dclk3	A	G	9: 111,298,226 (GRCm39)	E590G	probably damaging	Het
Ear2	A	T	14: 44,340,729 (GRCm39)	Y129F	probably benign	Het
Egf	A	G	3: 129,530,514 (GRCm39)	L216P	probably damaging	Het
Fbxw9	T	A	8: 85,792,523 (GRCm39)	H319Q	probably damaging	Het
Gipr	A	G	7: 18,891,487 (GRCm39)	S397P	probably damaging	Het
Gxylt2	G	T	6: 100,682,072 (GRCm39)	E90*	probably null	Het
Hnf1b	T	C	11: 83,784,283 (GRCm39)	V473A	probably benign	Het
Iffo1	G	A	6: 125,130,436 (GRCm39)	E475K	probably damaging	Het
Ifi206	T	A	1: 173,308,075 (GRCm39)	R640S		Het
Ipmk	A	G	10: 71,217,439 (GRCm39)	S328G	probably damaging	Het
Kcnq1	A	T	7: 142,737,368 (GRCm39)	I229F	probably damaging	Het
Kif9	C	A	9: 110,350,398 (GRCm39)	T763N	probably benign	Het
Klhl36	C	T	8: 120,601,129 (GRCm39)	Q383*	probably null	Het
Lrp4	G	T	2: 91,316,179 (GRCm39)	V766F	probably damaging	Het
Mettl26	T	A	17: 26,094,511 (GRCm39)	M3K	probably benign	Het
Muc16	T	A	9: 18,570,675 (GRCm39)	I615F	unknown	Het
Myo7b	T	A	18: 32,133,068 (GRCm39)	Q427L	probably benign	Het
Naip1	A	G	13: 100,559,584 (GRCm39)	M1140T	probably benign	Het
Ncapg	G	A	5: 45,829,834 (GRCm39)	V179I	probably damaging	Het
Nme4	C	T	17: 26,314,410 (GRCm39)	G6E	possibly damaging	Het
Nr1h4	T	C	10: 89,319,311 (GRCm39)	Y185C	probably damaging	Het
Nt5c3b	T	C	11: 100,327,012 (GRCm39)	I95V	probably benign	Het
Ntaq1	A	G	15: 58,004,913 (GRCm39)	T9A	probably benign	Het
Or2y3	C	T	17: 38,393,470 (GRCm39)	R133H	probably benign	Het
Or5g9	A	T	2: 85,552,145 (GRCm39)	Y132F	probably damaging	Het
Or5t16	A	T	2: 86,819,055 (GRCm39)	I155N	probably damaging	Het
Pappa2	G	T	1: 158,611,481 (GRCm39)	P1494Q	probably damaging	Het
Pdzd2	A	G	15: 12,457,909 (GRCm39)	F144S	probably benign	Het
Phactr3	A	G	2: 177,975,896 (GRCm39)	H547R	probably damaging	Het
Pik3c2b	T	A	1: 133,018,588 (GRCm39)	S1012T	possibly damaging	Het
Plppr2	G	A	9: 21,859,107 (GRCm39)	G408D	probably damaging	Het
Pom121	T	A	5: 135,420,554 (GRCm39)	N289I	unknown	Het
Ppa1	T	A	10: 61,487,362 (GRCm39)	S30T	probably damaging	Het
Rgs5	A	T	1: 169,518,089 (GRCm39)	K108*	probably null	Het
Rpap1	A	G	2: 119,607,278 (GRCm39)	V287A	probably benign	Het
Ryr1	A	G	7: 28,774,664 (GRCm39)	Y2326H	probably damaging	Het
Ryr2	A	G	13: 11,707,599 (GRCm39)	S2813P	probably damaging	Het
Sap25	T	C	5: 137,640,702 (GRCm39)		probably null	Het
Senp5	T	C	16: 31,782,279 (GRCm39)	Y739C	probably damaging	Het
Slc25a29	A	T	12: 108,793,017 (GRCm39)	L187Q	possibly damaging	Het
Slc7a2	C	T	8: 41,358,641 (GRCm39)	T328M	probably damaging	Het
Slc7a8	T	C	14: 55,018,759 (GRCm39)	N9S	probably benign	Het
Snx18	A	G	13: 113,754,039 (GRCm39)	V298A	probably benign	Het
Spo11	T	A	2: 172,833,904 (GRCm39)	I342N	possibly damaging	Het
Ssc5d	A	G	7: 4,932,367 (GRCm39)	K344E	probably benign	Het
Sspo	A	T	6: 48,439,269 (GRCm39)	D1639V	probably benign	Het
Stk32b	T	C	5: 37,617,001 (GRCm39)	D285G	probably benign	Het
Sult1b1	T	C	5: 87,662,815 (GRCm39)	D295G	probably benign	Het
Syt5	A	G	7: 4,544,831 (GRCm39)	L274P	probably damaging	Het
Tas1r2	T	C	4: 139,396,208 (GRCm39)	S545P	possibly damaging	Het
Tbc1d17	T	G	7: 44,490,696 (GRCm39)	D632A	probably damaging	Het
Tbc1d2	A	G	4: 46,650,007 (GRCm39)	S10P	probably benign	Het
Tlk1	A	T	2: 70,555,908 (GRCm39)	I417N	probably damaging	Het
Tmem184a	C	T	5: 139,791,984 (GRCm39)	R348H	possibly damaging	Het
Togaram2	T	A	17: 72,023,508 (GRCm39)	V808D	possibly damaging	Het
Tpr	A	G	1: 150,324,939 (GRCm39)	Q2397R	probably benign	Het
Trav7-4	A	G	14: 53,698,994 (GRCm39)	D47G	possibly damaging	Het
Usp17le	T	A	7: 104,419,814 (GRCm39)	M35L	probably benign	Het
Vegfc	C	T	8: 54,633,829 (GRCm39)	S262L	probably benign	Het
Vmn2r74	T	A	7: 85,605,212 (GRCm39)	I479L	possibly damaging	Het
Vps13a	A	T	19: 16,736,958 (GRCm39)	F126L	probably benign	Het
Zfp945	C	A	17: 23,070,582 (GRCm39)	C460F	possibly damaging	Het
Zmym4	G	T	4: 126,804,942 (GRCm39)	S439R	possibly damaging	Het
Zscan4-ps3	A	G	7: 11,344,093 (GRCm39)	E17G	probably damaging	Het

Other mutations in Cyp24a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
X0061:Cyp24a1	UTSW	2	170,327,910 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTATTTACCAGTGTGTCGTGC -3'
(R):5'- GTATTTTACCACACCCGCGG -3'

Sequencing Primer
(F):5'- GTGCTGTTTCTTCAGGCCAC -3'
(R):5'- ACCCGCGGCTTCTGTTTG -3'

Posted On

2022-11-14