Mutagenetix > Incidental Mutation

Incidental Mutation 'R1696:Cyp24a1'

192195

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

039729-MU

Accession Numbers

Essential gene?

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

Stock #

R1696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170324877-170339065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 170327963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 426 (E426D)

Ref Sequence

ENSEMBL: ENSMUSP00000047954 (fasta)

Gene Model

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

AlphaFold

Q64441

Predicted Effect

probably benign
Transcript: ENSMUST00000038824
AA Change: E426D

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000047954
Gene: ENSMUSG00000038567
AA Change: E426D

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,260,022 (GRCm39)	T25A	possibly damaging	Het
Abca17	T	C	17: 24,486,632 (GRCm39)	Y1465C	possibly damaging	Het
Adgrb1	C	T	15: 74,459,956 (GRCm39)	R530W	probably damaging	Het
Ak9	A	G	10: 41,203,585 (GRCm39)	T159A	possibly damaging	Het
Akap13	G	A	7: 75,259,340 (GRCm39)	G655S	possibly damaging	Het
Amer2	T	A	14: 60,617,123 (GRCm39)	D439E	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef2	T	A	2: 166,703,558 (GRCm39)	M870K	probably damaging	Het
Arhgef33	T	C	17: 80,656,935 (GRCm39)	F150S	probably damaging	Het
Arid2	A	T	15: 96,268,064 (GRCm39)	T726S	probably benign	Het
Atf7ip2	G	A	16: 10,052,195 (GRCm39)	V225I	probably damaging	Het
Atp12a	A	T	14: 56,603,545 (GRCm39)	E50V	probably damaging	Het
Bdkrb1	A	G	12: 105,570,761 (GRCm39)	N109S	probably benign	Het
Cald1	A	G	6: 34,722,646 (GRCm39)	E104G	probably damaging	Het
Capn15	A	G	17: 26,183,878 (GRCm39)	V267A	probably benign	Het
Ccng2	A	T	5: 93,421,241 (GRCm39)	K250N	possibly damaging	Het
Ccr10	T	A	11: 101,065,210 (GRCm39)	N107Y	probably benign	Het
Cntn2	T	C	1: 132,449,017 (GRCm39)	N664S	probably damaging	Het
Cyp26a1	A	G	19: 37,689,626 (GRCm39)	S441G	probably benign	Het
Cyp4f14	T	A	17: 33,128,145 (GRCm39)	K290M	possibly damaging	Het
Dcp2	T	A	18: 44,533,391 (GRCm39)	L114Q	probably damaging	Het
Dhrs7	A	G	12: 72,699,894 (GRCm39)	F246S	possibly damaging	Het
Dlg1	T	C	16: 31,600,616 (GRCm39)	V167A	probably damaging	Het
Dnmt3b	A	T	2: 153,518,630 (GRCm39)	K598*	probably null	Het
Dph7	T	C	2: 24,859,692 (GRCm39)		probably null	Het
Ehbp1	T	C	11: 22,003,441 (GRCm39)	M1103V	probably damaging	Het
Ell2	T	C	13: 75,917,677 (GRCm39)	S536P	probably damaging	Het
Ero1a	A	T	14: 45,537,392 (GRCm39)	V178E	probably damaging	Het
Faf2	T	A	13: 54,786,067 (GRCm39)	*50R	probably null	Het
Fbxl14	A	T	6: 119,457,107 (GRCm39)	N96I	probably damaging	Het
Fcrl2	T	C	3: 87,166,825 (GRCm39)	Y56C	possibly damaging	Het
Foxc1	T	A	13: 31,992,782 (GRCm39)	M531K	unknown	Het
Foxp1	A	C	6: 98,922,663 (GRCm39)	S391A	probably benign	Het
Frem2	A	T	3: 53,563,463 (GRCm39)	L348*	probably null	Het
Fsd1	T	A	17: 56,295,257 (GRCm39)		probably null	Het
Gab2	A	G	7: 96,872,840 (GRCm39)	E81G	probably damaging	Het
Gcat	G	A	15: 78,919,995 (GRCm39)	V196M	probably damaging	Het
Gfy	T	C	7: 44,827,470 (GRCm39)	T209A	possibly damaging	Het
Ggt7	T	C	2: 155,336,899 (GRCm39)	N531S	possibly damaging	Het
Gnai3	A	G	3: 108,016,775 (GRCm39)	I343T	probably damaging	Het
H2-DMa	A	T	17: 34,357,387 (GRCm39)	Q220L	probably benign	Het
Heatr1	A	G	13: 12,438,602 (GRCm39)	I1346V	possibly damaging	Het
Igfbp1	T	A	11: 7,147,978 (GRCm39)	V7D	probably benign	Het
Igfbp1	T	C	11: 7,151,922 (GRCm39)	W242R	probably damaging	Het
Kbtbd2	T	G	6: 56,756,326 (GRCm39)	K470T	probably benign	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klhl25	G	T	7: 75,516,591 (GRCm39)	G499V	probably damaging	Het
Krt7	A	T	15: 101,321,307 (GRCm39)	T375S	probably benign	Het
Krt73	G	A	15: 101,708,344 (GRCm39)	L238F	probably damaging	Het
Lama5	G	T	2: 179,844,279 (GRCm39)	H331Q	probably damaging	Het
Leng8	T	G	7: 4,148,135 (GRCm39)	F663V	probably damaging	Het
Lrp12	G	T	15: 39,741,757 (GRCm39)	H338Q	probably damaging	Het
Lrp6	T	A	6: 134,445,686 (GRCm39)	R1042S	probably damaging	Het
Map6	T	A	7: 98,966,664 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,700,417 (GRCm39)	F1459L	possibly damaging	Het
Mmp1b	T	C	9: 7,386,699 (GRCm39)	T142A	probably damaging	Het
Mmp23	T	A	4: 155,735,166 (GRCm39)	*392C	probably null	Het
Nlrp4a	C	T	7: 26,149,959 (GRCm39)	S522F	probably damaging	Het
Nup93	T	G	8: 95,023,183 (GRCm39)	F254V	probably benign	Het
Oas1h	G	T	5: 121,000,885 (GRCm39)		probably null	Het
Ocstamp	A	G	2: 165,238,094 (GRCm39)	L390P	probably damaging	Het
Olfm1	C	A	2: 28,098,128 (GRCm39)	Y20*	probably null	Het
Or10ac1	C	T	6: 42,515,537 (GRCm39)	V140M	probably benign	Het
Or13a26	A	T	7: 140,284,409 (GRCm39)	K82*	probably null	Het
Or52ae7	T	C	7: 103,119,384 (GRCm39)	V46A	probably benign	Het
Or5as1	A	G	2: 86,980,724 (GRCm39)	F94L	probably benign	Het
Or7g33	A	G	9: 19,449,190 (GRCm39)	F12S	probably damaging	Het
Pgghg	T	C	7: 140,525,224 (GRCm39)	V410A	possibly damaging	Het
Polr2b	T	A	5: 77,490,495 (GRCm39)	D878E	probably benign	Het
Pspc1	T	C	14: 57,001,700 (GRCm39)	T225A	probably benign	Het
Rad21l	A	T	2: 151,510,447 (GRCm39)	Y3N	probably damaging	Het
Rbl2	A	G	8: 91,812,352 (GRCm39)	N280S	probably benign	Het
Rdm1	C	A	11: 101,521,694 (GRCm39)	Q150K	probably benign	Het
Ro60	T	A	1: 143,633,575 (GRCm39)	I508F	probably damaging	Het
Rrp12	A	T	19: 41,862,188 (GRCm39)	F932I	probably damaging	Het
Ryr2	A	T	13: 11,746,543 (GRCm39)	M2003K	probably benign	Het
Scfd2	T	C	5: 74,691,539 (GRCm39)	T248A	probably benign	Het
Slc22a16	G	A	10: 40,460,923 (GRCm39)	A242T	possibly damaging	Het
Slit3	C	A	11: 35,566,750 (GRCm39)	N1007K	probably damaging	Het
Sntg2	C	A	12: 30,317,062 (GRCm39)	G187C	probably damaging	Het
Spag5	T	C	11: 78,212,152 (GRCm39)	V1060A	probably damaging	Het
Spg7	G	A	8: 123,816,964 (GRCm39)	V552I	probably benign	Het
Spns2	T	A	11: 72,347,173 (GRCm39)	T434S	probably benign	Het
Srpk2	C	T	5: 23,753,492 (GRCm39)	W87*	probably null	Het
St3gal3	T	C	4: 117,797,589 (GRCm39)	I268V	possibly damaging	Het
Stat6	T	C	10: 127,488,918 (GRCm39)	C356R	probably damaging	Het
Stx8	A	G	11: 67,902,248 (GRCm39)	Q144R	probably damaging	Het
Tcn2	C	A	11: 3,872,169 (GRCm39)	L319F	probably damaging	Het
Tex14	T	C	11: 87,402,371 (GRCm39)	I486T	possibly damaging	Het
Thtpa	T	C	14: 55,333,242 (GRCm39)	V109A	probably benign	Het
Tmem127	C	A	2: 127,090,627 (GRCm39)	L48I	probably damaging	Het
Tnfaip8	A	T	18: 50,223,290 (GRCm39)	K9*	probably null	Het
Tnfrsf1b	T	A	4: 144,954,044 (GRCm39)	T102S	probably benign	Het
Tor1aip1	A	T	1: 155,893,262 (GRCm39)	M110K	possibly damaging	Het
Trim10	A	T	17: 37,188,073 (GRCm39)	K430*	probably null	Het
Trpv6	A	G	6: 41,598,702 (GRCm39)	V641A	possibly damaging	Het
Ttf1	T	G	2: 28,960,014 (GRCm39)	Y541D	probably damaging	Het
Ttn	A	G	2: 76,594,750 (GRCm39)	V20432A	probably damaging	Het
Vac14	A	T	8: 111,359,079 (GRCm39)		probably null	Het
Vipr2	G	T	12: 116,102,777 (GRCm39)	A296S	probably benign	Het
Vmn1r1	T	C	1: 181,985,624 (GRCm39)	R14G	probably benign	Het
Vmn1r178	T	A	7: 23,593,625 (GRCm39)	N151K	probably damaging	Het
Vmn1r58	T	A	7: 5,413,727 (GRCm39)	I168F	possibly damaging	Het
Vmn1r77	C	T	7: 11,775,547 (GRCm39)	Q40*	probably null	Het
Vmn2r76	T	C	7: 85,880,464 (GRCm39)	N74S	possibly damaging	Het
Zc2hc1c	T	A	12: 85,337,555 (GRCm39)	M404K	possibly 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
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
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'- TGAAGACTTTACCCAGCAAAGAGCC -3'
(R):5'- TCCCTCACCTGAAAACTGAGGAGAG -3'

Sequencing Primer
(F):5'- TACCCAGCAAAGAGCCAAGTG -3'
(R):5'- ggacagagacaggagaatcag -3'

Posted On

2014-05-14