Mutagenetix > Incidental Mutation

Incidental Mutation 'R6823:Cyp24a1'

537711

Institutional Source

Beutler Lab

Gene Symbol

Cyp24a1

Ensembl Gene

ENSMUSG00000038567

Gene Name

cytochrome P450, family 24, subfamily a, polypeptide 1

Synonyms

CP24, 24-OHase, Cyp24, 25-hydroxyvitamin D-24-hydroxylase

MMRRC Submission

044935-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

R6823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170482708-170497145 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 170487979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 351 (R351I)

Ref Sequence

ENSEMBL: ENSMUSP00000047954 (fasta)

Gene Model

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

AlphaFold

Q64441

Predicted Effect

probably benign
Transcript: ENSMUST00000038824
AA Change: R351I

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047954
Gene: ENSMUSG00000038567
AA Change: R351I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,754,886		probably null	Het
Adgrv1	A	G	13: 81,557,081	F1537L	probably damaging	Het
Aggf1	T	C	13: 95,364,723	S384G	probably benign	Het
Anxa8	A	T	14: 34,094,765	D204V	possibly damaging	Het
Asap3	A	T	4: 136,227,572	E71V	possibly damaging	Het
BC024139	T	C	15: 76,119,746	*773W	probably null	Het
Bckdhb	T	C	9: 83,953,761	V106A	possibly damaging	Het
Cep250	A	G	2: 155,981,459	D1010G	probably benign	Het
Chrd	T	A	16: 20,734,736	L243Q	probably damaging	Het
Cib2	G	T	9: 54,549,891	L30I	possibly damaging	Het
Cpsf7	T	A	19: 10,532,884	L113*	probably null	Het
Cubn	T	A	2: 13,445,029	I895L	probably benign	Het
Cyp2a12	A	T	7: 27,034,156	D320V	possibly damaging	Het
Dact1	C	G	12: 71,317,939	P498R	probably benign	Het
Diaph1	T	A	18: 37,876,383		probably null	Het
Dnah7a	A	T	1: 53,456,704	I3198N	probably benign	Het
Dopey2	A	T	16: 93,755,485	I271F	possibly damaging	Het
Erich3	C	A	3: 154,727,437	F349L	probably damaging	Het
Fam187b	G	C	7: 30,989,290	V358L	probably benign	Het
Fat4	T	A	3: 38,983,939	H3913Q	probably benign	Het
Fbxw7	G	C	3: 84,958,627	E118D	probably benign	Het
Fgf1	A	G	18: 38,847,108	I71T	probably damaging	Het
Fryl	A	T	5: 73,065,217	I2007K	probably damaging	Het
Galnt2	C	G	8: 124,324,011	P130A	probably benign	Het
H1fx	G	A	6: 87,981,302	R19C	probably damaging	Het
Hmga2	A	C	10: 120,476,024	S14A	possibly damaging	Het
Hoxb4	C	T	11: 96,318,654		probably benign	Het
Hr	A	T	14: 70,565,374	I756F	probably damaging	Het
Hrasls5	A	T	19: 7,639,496		probably benign	Het
Hspa1b	A	T	17: 34,958,185	S275T	probably benign	Het
Ikbkap	A	G	4: 56,787,939	Y331H	probably damaging	Het
Kcnh1	T	C	1: 192,505,289	*99R	probably null	Het
Kit	C	A	5: 75,652,649	L864I	probably benign	Het
Klk14	A	T	7: 43,694,456	K196*	probably null	Het
Lmod1	A	G	1: 135,325,167	N53S	probably damaging	Het
Myh13	T	C	11: 67,356,158	M1235T	probably benign	Het
Neurl3	T	A	1: 36,268,704	K175*	probably null	Het
Nlgn2	T	A	11: 69,825,924	K597M	probably damaging	Het
Npdc1	T	C	2: 25,409,109	M306T	probably damaging	Het
Obscn	C	T	11: 59,067,943		probably null	Het
Olfr404-ps1	T	C	11: 74,239,696	L44P	probably damaging	Het
Olfr553	G	A	7: 102,614,486	L168F	probably damaging	Het
Olfr913	T	C	9: 38,594,905	I228T	possibly damaging	Het
Pbrm1	A	T	14: 31,084,790	Y1042F	probably damaging	Het
Pclo	T	A	5: 14,677,907		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431		probably benign	Het
Phf12	C	T	11: 78,022,511	Q430*	probably null	Het
Pld3	C	T	7: 27,535,897	R302H	probably damaging	Het
Plekha5	T	C	6: 140,525,858	S112P	probably benign	Het
Pmfbp1	T	A	8: 109,530,307	S548T	possibly damaging	Het
Ppa1	A	T	10: 61,667,603	I220F	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,078		probably benign	Het
Psmg2	A	T	18: 67,648,857	E164D	possibly damaging	Het
Rarb	T	C	14: 16,443,824	R155G	probably damaging	Het
Rnf215	T	C	11: 4,136,609	L162S	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Rtkn2	G	A	10: 68,026,632	V330M	probably damaging	Het
Slc16a4	A	T	3: 107,311,498	I472F	probably benign	Het
Snx14	T	C	9: 88,394,382	N617D	possibly damaging	Het
Spire2	T	C	8: 123,356,727	V150A	probably damaging	Het
Sptbn1	C	A	11: 30,114,787	R1904M	probably damaging	Het
Swap70	A	G	7: 110,281,303	E575G	possibly damaging	Het
Tbxas1	A	T	6: 38,919,153	M1L	possibly damaging	Het
Tenm3	A	T	8: 48,256,837	V1688D	probably damaging	Het
Tgfbr3	A	T	5: 107,149,914	S207T	probably damaging	Het
Timm44	A	G	8: 4,267,282	F248L	probably damaging	Het
Tmem161a	T	C	8: 70,181,199	L170P	probably damaging	Het
Tmem63a	A	T	1: 180,960,470	Y263F	possibly damaging	Het
Tnfsf9	C	A	17: 57,105,513	L28I	probably benign	Het
Tph2	T	A	10: 115,174,106	N183I	probably benign	Het
Ttyh1	T	C	7: 4,122,529	I60T	probably damaging	Het
Ubn1	T	G	16: 5,064,547	S48A	probably damaging	Het
Ubr5	T	C	15: 37,989,598	N2019S	probably benign	Het
Wbp2	T	C	11: 116,086,910	N6D	probably benign	Het
Wdr59	T	A	8: 111,459,040	E810V	possibly damaging	Het
Wiz	T	C	17: 32,360,421	D220G	probably damaging	Het
Yipf7	A	G	5: 69,517,070	L244P	probably damaging	Het
Zdhhc17	T	C	10: 110,955,111	T366A	possibly damaging	Het
Zfp169	A	T	13: 48,490,996		probably benign	Het
Zfp707	C	T	15: 75,969,723		probably benign	Het
Zfp788	A	G	7: 41,649,560	H540R	probably damaging	Het

Other mutations in Cyp24a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Cyp24a1	APN	2	170496566	missense	probably damaging	1.00
IGL02187:Cyp24a1	APN	2	170494093	missense	probably damaging	1.00
IGL02269:Cyp24a1	APN	2	170496572	missense	probably damaging	1.00
IGL02273:Cyp24a1	APN	2	170496358	missense	probably damaging	1.00
IGL03089:Cyp24a1	APN	2	170485966	missense	probably damaging	1.00
R0359:Cyp24a1	UTSW	2	170491699	missense	possibly damaging	0.94
R1037:Cyp24a1	UTSW	2	170491617	missense	probably damaging	1.00
R1243:Cyp24a1	UTSW	2	170495406	missense	probably benign	0.28
R1601:Cyp24a1	UTSW	2	170485691	missense	possibly damaging	0.48
R1696:Cyp24a1	UTSW	2	170486043	missense	probably benign	0.10
R1839:Cyp24a1	UTSW	2	170496741	missense	probably benign
R1845:Cyp24a1	UTSW	2	170487917	missense	probably benign	0.06
R4832:Cyp24a1	UTSW	2	170496178	missense	probably benign	0.07
R5649:Cyp24a1	UTSW	2	170496309	missense	possibly damaging	0.87
R6320:Cyp24a1	UTSW	2	170486784	missense	probably benign	0.13
R6668:Cyp24a1	UTSW	2	170485885	critical splice donor site	probably null
R6953:Cyp24a1	UTSW	2	170487946	missense	probably benign
R7136:Cyp24a1	UTSW	2	170494143	missense	probably benign	0.15
R7287:Cyp24a1	UTSW	2	170485906	missense	probably damaging	1.00
R7831:Cyp24a1	UTSW	2	170485940	missense	probably damaging	1.00
R7893:Cyp24a1	UTSW	2	170496516	critical splice donor site	probably null
R8193:Cyp24a1	UTSW	2	170485702	missense	probably damaging	1.00
R8206:Cyp24a1	UTSW	2	170491669	missense	possibly damaging	0.83
R8296:Cyp24a1	UTSW	2	170490116	missense	probably damaging	1.00
R8384:Cyp24a1	UTSW	2	170486769	critical splice donor site	probably null
R9005:Cyp24a1	UTSW	2	170494085	missense	probably damaging	1.00
R9091:Cyp24a1	UTSW	2	170485933	missense	probably damaging	1.00
R9226:Cyp24a1	UTSW	2	170496357	missense	probably damaging	1.00
R9270:Cyp24a1	UTSW	2	170485933	missense	probably damaging	1.00
R9776:Cyp24a1	UTSW	2	170496705	missense	probably benign	0.10
X0061:Cyp24a1	UTSW	2	170485990	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTCTGAGAGAATCCTTTTCTAGTGC -3'
(R):5'- CCTTTTGTGAGCCTGACGTC -3'

Sequencing Primer
(F):5'- GAGAATCCTTTTCTAGTGCTAAAGC -3'
(R):5'- CGGTCGTCGACAGACTCTATC -3'

Posted On

2018-10-18