Mutagenetix > Incidental Mutation

Incidental Mutation 'R8359:Cyp21a1'

645939

Institutional Source

Beutler Lab

Gene Symbol

Cyp21a1

Ensembl Gene

ENSMUSG00000024365

Gene Name

cytochrome P450, family 21, subfamily a, polypeptide 1

Synonyms

Cyp21, 21OHA, Oh21-1, 21-OH, 21-hydroxylase, 21OH, Oh21-1

MMRRC Submission

067872-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R8359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35020322-35023400 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 35021105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025223]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000025223

SMART Domains

Protein: ENSMUSP00000025223
Gene: ENSMUSG00000024365

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:p450	29	473	3.9e-98	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: An 80kb deletion including Cyp21a1 is found in mice with the H2 haplotype aw18. Homozygotes are lethal, but can be rescued with a Cyp21a1 transgene. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,296,502 (GRCm39)	V315D	probably damaging	Het
Adgrf1	A	T	17: 43,621,286 (GRCm39)	I508F	probably damaging	Het
Atpaf2	T	C	11: 60,298,129 (GRCm39)	D147G	probably damaging	Het
Brwd1	T	C	16: 95,817,409 (GRCm39)	T1368A	probably damaging	Het
Cacna1s	A	T	1: 136,043,799 (GRCm39)	E1626V	probably benign	Het
Carm1	G	A	9: 21,480,765 (GRCm39)	V80I	possibly damaging	Het
Cenpw	T	A	10: 30,074,484 (GRCm39)	D71V	probably damaging	Het
Cit	T	A	5: 116,122,603 (GRCm39)		probably null	Het
Ckmt1	A	T	2: 121,193,531 (GRCm39)	T364S	probably benign	Het
Col6a4	T	C	9: 105,945,583 (GRCm39)	S844G	probably benign	Het
Crybg1	T	C	10: 43,868,538 (GRCm39)	E1380G	probably benign	Het
Dhodh	A	C	8: 110,333,038 (GRCm39)	D12E	probably benign	Het
Dnali1	T	A	4: 124,957,460 (GRCm39)	T95S	probably damaging	Het
Dynlrb1	A	G	2: 155,091,870 (GRCm39)	N93D	probably benign	Het
Edem1	C	T	6: 108,823,774 (GRCm39)	A390V	probably benign	Het
Enthd1	T	C	15: 80,358,356 (GRCm39)	D388G	probably benign	Het
Fam170a	A	G	18: 50,414,677 (GRCm39)	T108A	probably damaging	Het
Fryl	A	G	5: 73,233,276 (GRCm39)	S1531P	probably benign	Het
Golm2	A	T	2: 121,697,632 (GRCm39)		probably benign	Het
Hspbap1	C	A	16: 35,645,366 (GRCm39)	N350K	probably benign	Het
Htr3b	A	C	9: 48,858,596 (GRCm39)	S94R	probably damaging	Het
Ide	A	T	19: 37,307,886 (GRCm39)	V42E		Het
Igf2r	A	G	17: 12,902,748 (GRCm39)	V2434A	probably benign	Het
Katnip	T	C	7: 125,468,023 (GRCm39)		probably null	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Mccc1	C	T	3: 36,018,493 (GRCm39)	V614I	probably benign	Het
Mos	A	G	4: 3,871,097 (GRCm39)	Y240H	probably damaging	Het
Myh11	C	T	16: 14,026,095 (GRCm39)		probably null	Het
Nexn	T	A	3: 151,953,998 (GRCm39)	D166V	probably damaging	Het
Or10h1b	G	A	17: 33,395,895 (GRCm39)	C173Y	probably damaging	Het
Or2t47	G	T	11: 58,443,029 (GRCm39)	T12N	probably benign	Het
Or4p4	A	T	2: 88,483,332 (GRCm39)	M279L	probably benign	Het
Or5p81	T	A	7: 108,267,518 (GRCm39)	N298K	probably benign	Het
Pkp4	A	G	2: 59,180,895 (GRCm39)	Y1061C	probably damaging	Het
Pla2g6	T	C	15: 79,171,370 (GRCm39)	D740G	probably damaging	Het
Pla2r1	T	A	2: 60,273,627 (GRCm39)	I920L	probably benign	Het
Plekha2	A	G	8: 25,578,407 (GRCm39)	I31T	probably damaging	Het
Ppp1r16b	G	T	2: 158,603,295 (GRCm39)	V407L	probably benign	Het
Prss50	A	G	9: 110,691,370 (GRCm39)	I225V	probably damaging	Het
Rmdn2	A	T	17: 79,935,580 (GRCm39)	E231V		Het
Sema3c	T	C	5: 17,858,726 (GRCm39)	S42P	possibly damaging	Het
Sh2d1b1	T	A	1: 170,110,693 (GRCm39)		probably null	Het
Slc22a20	T	C	19: 6,021,554 (GRCm39)	I483V	probably benign	Het
Slc30a2	T	C	4: 134,076,690 (GRCm39)	V275A	probably damaging	Het
Slc6a3	T	A	13: 73,693,002 (GRCm39)	F207L	probably benign	Het
Slc9a1	A	T	4: 133,147,927 (GRCm39)	Q648H	probably damaging	Het
Slpi	A	T	2: 164,197,975 (GRCm39)	M1K	probably null	Het
Smc5	A	C	19: 23,211,443 (GRCm39)	S564A	possibly damaging	Het
Smchd1	A	T	17: 71,738,238 (GRCm39)	F542L	probably damaging	Het
Sycp1	T	A	3: 102,727,909 (GRCm39)	K901N	probably damaging	Het
Synpo2l	T	A	14: 20,716,208 (GRCm39)	T126S	probably benign	Het
Upp2	A	G	2: 58,667,955 (GRCm39)	N216S	probably benign	Het
Wnk1	T	C	6: 119,969,408 (GRCm39)	D349G	probably damaging	Het
Zfp180	C	T	7: 23,804,337 (GRCm39)	A252V	probably benign	Het
Zfr2	C	T	10: 81,078,653 (GRCm39)	T295I	possibly damaging	Het
Zkscan16	C	T	4: 58,957,230 (GRCm39)	T504I	possibly damaging	Het

Other mutations in Cyp21a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Cyp21a1	APN	17	35,023,108 (GRCm39)	critical splice acceptor site	probably null
IGL01688:Cyp21a1	APN	17	35,021,194 (GRCm39)	missense	probably damaging	1.00
IGL02352:Cyp21a1	APN	17	35,023,196 (GRCm39)	missense	probably damaging	1.00
IGL02359:Cyp21a1	APN	17	35,023,196 (GRCm39)	missense	probably damaging	1.00
IGL02418:Cyp21a1	APN	17	35,023,162 (GRCm39)	splice site	probably benign
IGL03089:Cyp21a1	APN	17	35,022,420 (GRCm39)	splice site	probably null
R0480:Cyp21a1	UTSW	17	35,020,800 (GRCm39)	missense	probably damaging	1.00
R1386:Cyp21a1	UTSW	17	35,021,184 (GRCm39)	missense	probably damaging	0.98
R1831:Cyp21a1	UTSW	17	35,023,009 (GRCm39)	splice site	probably benign
R2159:Cyp21a1	UTSW	17	35,021,378 (GRCm39)	missense	probably benign	0.21
R2209:Cyp21a1	UTSW	17	35,021,701 (GRCm39)	nonsense	probably null
R4968:Cyp21a1	UTSW	17	35,022,383 (GRCm39)	missense	possibly damaging	0.93
R5957:Cyp21a1	UTSW	17	35,022,150 (GRCm39)	missense	probably benign	0.13
R6374:Cyp21a1	UTSW	17	35,023,110 (GRCm39)	splice site	probably null
R7077:Cyp21a1	UTSW	17	35,021,333 (GRCm39)	missense	probably damaging	1.00
R7143:Cyp21a1	UTSW	17	35,021,300 (GRCm39)	missense	probably damaging	1.00
R7798:Cyp21a1	UTSW	17	35,023,295 (GRCm39)	missense	probably benign	0.30
R8192:Cyp21a1	UTSW	17	35,022,633 (GRCm39)	missense	probably damaging	1.00
R8460:Cyp21a1	UTSW	17	35,021,844 (GRCm39)	missense	probably benign	0.01
R8933:Cyp21a1	UTSW	17	35,023,285 (GRCm39)	missense	probably damaging	1.00
R9133:Cyp21a1	UTSW	17	35,023,419 (GRCm39)	start gained	probably benign
R9408:Cyp21a1	UTSW	17	35,020,860 (GRCm39)	missense	probably damaging	1.00
R9561:Cyp21a1	UTSW	17	35,021,652 (GRCm39)	missense	possibly damaging	0.91
R9583:Cyp21a1	UTSW	17	35,022,017 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCGTCCTATCCTGTCAAGG -3'
(R):5'- AACTAGGGCTAGCAGGTGATTC -3'

Sequencing Primer
(F):5'- TCGGGAGATTGATGCCAGC -3'
(R):5'- GCTAGCAGGTGATTCCCTGG -3'

Posted On

2020-09-02