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

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

MMRRC Submission

044935-MU

Accession Numbers

Essential gene?

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

Stock #

R6823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

170324877-170339065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 170329899 bp (GRCm39)

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: 64,626,735 (GRCm39)		probably null	Het
Adgrv1	A	G	13: 81,705,200 (GRCm39)	F1537L	probably damaging	Het
Aggf1	T	C	13: 95,501,231 (GRCm39)	S384G	probably benign	Het
Anxa8	A	T	14: 33,816,722 (GRCm39)	D204V	possibly damaging	Het
Asap3	A	T	4: 135,954,883 (GRCm39)	E71V	possibly damaging	Het
BC024139	T	C	15: 76,003,946 (GRCm39)	*773W	probably null	Het
Bckdhb	T	C	9: 83,835,814 (GRCm39)	V106A	possibly damaging	Het
Cep250	A	G	2: 155,823,379 (GRCm39)	D1010G	probably benign	Het
Chrd	T	A	16: 20,553,486 (GRCm39)	L243Q	probably damaging	Het
Cib2	G	T	9: 54,457,175 (GRCm39)	L30I	possibly damaging	Het
Cpsf7	T	A	19: 10,510,248 (GRCm39)	L113*	probably null	Het
Cubn	T	A	2: 13,449,840 (GRCm39)	I895L	probably benign	Het
Cyp2a12	A	T	7: 26,733,581 (GRCm39)	D320V	possibly damaging	Het
Dact1	C	G	12: 71,364,713 (GRCm39)	P498R	probably benign	Het
Diaph1	T	A	18: 38,009,436 (GRCm39)		probably null	Het
Dnah7a	A	T	1: 53,495,863 (GRCm39)	I3198N	probably benign	Het
Dop1b	A	T	16: 93,552,373 (GRCm39)	I271F	possibly damaging	Het
Elp1	A	G	4: 56,787,939 (GRCm39)	Y331H	probably damaging	Het
Erich3	C	A	3: 154,433,074 (GRCm39)	F349L	probably damaging	Het
Fam187b	G	C	7: 30,688,715 (GRCm39)	V358L	probably benign	Het
Fat4	T	A	3: 39,038,088 (GRCm39)	H3913Q	probably benign	Het
Fbxw7	G	C	3: 84,865,934 (GRCm39)	E118D	probably benign	Het
Fgf1	A	G	18: 38,980,161 (GRCm39)	I71T	probably damaging	Het
Fryl	A	T	5: 73,222,560 (GRCm39)	I2007K	probably damaging	Het
Galnt2	C	G	8: 125,050,750 (GRCm39)	P130A	probably benign	Het
H1f10	G	A	6: 87,958,284 (GRCm39)	R19C	probably damaging	Het
Hmga2	A	C	10: 120,311,929 (GRCm39)	S14A	possibly damaging	Het
Hoxb4	C	T	11: 96,209,480 (GRCm39)		probably benign	Het
Hr	A	T	14: 70,802,814 (GRCm39)	I756F	probably damaging	Het
Hspa1b	A	T	17: 35,177,161 (GRCm39)	S275T	probably benign	Het
Kcnh1	T	C	1: 192,187,597 (GRCm39)	*99R	probably null	Het
Kit	C	A	5: 75,813,309 (GRCm39)	L864I	probably benign	Het
Klk14	A	T	7: 43,343,880 (GRCm39)	K196*	probably null	Het
Lmod1	A	G	1: 135,252,905 (GRCm39)	N53S	probably damaging	Het
Myh13	T	C	11: 67,246,984 (GRCm39)	M1235T	probably benign	Het
Neurl3	T	A	1: 36,307,785 (GRCm39)	K175*	probably null	Het
Nlgn2	T	A	11: 69,716,750 (GRCm39)	K597M	probably damaging	Het
Npdc1	T	C	2: 25,299,121 (GRCm39)	M306T	probably damaging	Het
Obscn	C	T	11: 58,958,769 (GRCm39)		probably null	Het
Or1p1b	T	C	11: 74,130,522 (GRCm39)	L44P	probably damaging	Het
Or52m2	G	A	7: 102,263,693 (GRCm39)	L168F	probably damaging	Het
Or8b49	T	C	9: 38,506,201 (GRCm39)	I228T	possibly damaging	Het
Pbrm1	A	T	14: 30,806,747 (GRCm39)	Y1042F	probably damaging	Het
Pclo	T	A	5: 14,727,921 (GRCm39)		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Phf12	C	T	11: 77,913,337 (GRCm39)	Q430*	probably null	Het
Plaat5	A	T	19: 7,616,861 (GRCm39)		probably benign	Het
Pld3	C	T	7: 27,235,322 (GRCm39)	R302H	probably damaging	Het
Plekha5	T	C	6: 140,471,584 (GRCm39)	S112P	probably benign	Het
Pmfbp1	T	A	8: 110,256,939 (GRCm39)	S548T	possibly damaging	Het
Ppa1	A	T	10: 61,503,382 (GRCm39)	I220F	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,078 (GRCm38)		probably benign	Het
Psmg2	A	T	18: 67,781,927 (GRCm39)	E164D	possibly damaging	Het
Rarb	T	C	14: 16,443,824 (GRCm38)	R155G	probably damaging	Het
Rnf215	T	C	11: 4,086,609 (GRCm39)	L162S	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rtkn2	G	A	10: 67,862,462 (GRCm39)	V330M	probably damaging	Het
Slc16a4	A	T	3: 107,218,814 (GRCm39)	I472F	probably benign	Het
Snx14	T	C	9: 88,276,435 (GRCm39)	N617D	possibly damaging	Het
Spire2	T	C	8: 124,083,466 (GRCm39)	V150A	probably damaging	Het
Sptbn1	C	A	11: 30,064,787 (GRCm39)	R1904M	probably damaging	Het
Swap70	A	G	7: 109,880,510 (GRCm39)	E575G	possibly damaging	Het
Tbxas1	A	T	6: 38,896,087 (GRCm39)	M1L	possibly damaging	Het
Tenm3	A	T	8: 48,709,872 (GRCm39)	V1688D	probably damaging	Het
Tgfbr3	A	T	5: 107,297,780 (GRCm39)	S207T	probably damaging	Het
Timm44	A	G	8: 4,317,282 (GRCm39)	F248L	probably damaging	Het
Tmem161a	T	C	8: 70,633,849 (GRCm39)	L170P	probably damaging	Het
Tmem63a	A	T	1: 180,788,035 (GRCm39)	Y263F	possibly damaging	Het
Tnfsf9	C	A	17: 57,412,513 (GRCm39)	L28I	probably benign	Het
Tph2	T	A	10: 115,010,011 (GRCm39)	N183I	probably benign	Het
Ttyh1	T	C	7: 4,125,528 (GRCm39)	I60T	probably damaging	Het
Ubn1	T	G	16: 4,882,411 (GRCm39)	S48A	probably damaging	Het
Ubr5	T	C	15: 37,989,842 (GRCm39)	N2019S	probably benign	Het
Wbp2	T	C	11: 115,977,736 (GRCm39)	N6D	probably benign	Het
Wdr59	T	A	8: 112,185,672 (GRCm39)	E810V	possibly damaging	Het
Wiz	T	C	17: 32,579,395 (GRCm39)	D220G	probably damaging	Het
Yipf7	A	G	5: 69,674,413 (GRCm39)	L244P	probably damaging	Het
Zdhhc17	T	C	10: 110,790,972 (GRCm39)	T366A	possibly damaging	Het
Zfp169	A	T	13: 48,644,472 (GRCm39)		probably benign	Het
Zfp707	C	T	15: 75,841,572 (GRCm39)		probably benign	Het
Zfp788	A	G	7: 41,298,984 (GRCm39)	H540R	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
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'- CTCTGAGAGAATCCTTTTCTAGTGC -3'
(R):5'- CCTTTTGTGAGCCTGACGTC -3'

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

Posted On

2018-10-18