Mutagenetix > Incidental Mutation

Incidental Mutation 'R7077:Cyp21a1'

549302

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

045172-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R7077 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35020322-35023400 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35021333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 346 (R346L)

Ref Sequence

ENSEMBL: ENSMUSP00000025223 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025223
AA Change: R346L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025223
Gene: ENSMUSG00000024365
AA Change: R346L

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: 98.9%

Validation Efficiency

98% (54/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	C	T	12: 81,605,893 (GRCm39)	C623Y	probably damaging	Het
Ago3	T	C	4: 126,265,325 (GRCm39)	K322R	probably null	Het
Ankrd17	T	C	5: 90,433,723 (GRCm39)	H682R	possibly damaging	Het
Aoah	A	G	13: 21,094,276 (GRCm39)	D187G	probably damaging	Het
Arhgap17	T	C	7: 122,879,231 (GRCm39)	D840G	unknown	Het
AW551984	C	T	9: 39,502,723 (GRCm39)	V650I	probably benign	Het
Bok	T	A	1: 93,616,911 (GRCm39)	Y86N	probably damaging	Het
Ccdc146	T	A	5: 21,510,272 (GRCm39)	N580I	possibly damaging	Het
Ccng2	T	C	5: 93,417,199 (GRCm39)	S72P	possibly damaging	Het
Cfap74	T	G	4: 155,540,134 (GRCm39)	I977S	unknown	Het
Cobl	T	C	11: 12,203,441 (GRCm39)	N1087S	probably benign	Het
Eif4a1	A	C	11: 69,561,490 (GRCm39)	F52L	probably damaging	Het
Eif4ebp2	A	C	10: 61,269,580 (GRCm39)	I120S	probably damaging	Het
Enpp2	A	C	15: 54,764,787 (GRCm39)	D146E	probably benign	Het
Exosc9	T	C	3: 36,607,205 (GRCm39)	Y30H	probably damaging	Het
Fam117a	G	A	11: 95,268,498 (GRCm39)	G300S	probably benign	Het
Focad	C	A	4: 88,328,914 (GRCm39)	A1709E	unknown	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
Fsip2	T	C	2: 82,813,496 (GRCm39)	F3272L	probably benign	Het
Gcnt2	G	A	13: 41,013,896 (GRCm39)	M22I	probably benign	Het
Gjd4	T	C	18: 9,280,928 (GRCm39)	E50G	probably damaging	Het
Gm10375	G	T	14: 43,840,427 (GRCm39)	T162K	probably benign	Het
Gm10837	C	G	14: 122,728,142 (GRCm39)	A6G	unknown	Het
Gm4924	T	C	10: 82,215,057 (GRCm39)	F952L	unknown	Het
Heatr1	T	C	13: 12,433,045 (GRCm39)	F1132L	possibly damaging	Het
Hnrnpu	A	G	1: 178,159,756 (GRCm39)	Y442H	unknown	Het
Hp1bp3	C	A	4: 137,966,929 (GRCm39)	T408N	probably damaging	Het
Htra3	A	G	5: 35,825,660 (GRCm39)	V198A	probably damaging	Het
Katnal1	T	C	5: 148,828,547 (GRCm39)	T300A	probably benign	Het
Lipo5	G	T	19: 33,445,170 (GRCm39)	P133Q		Het
Lrp1b	A	T	2: 41,660,858 (GRCm39)	H197Q		Het
Mdc1	C	A	17: 36,156,839 (GRCm39)	A82D	probably damaging	Het
Mstn	A	T	1: 53,103,408 (GRCm39)	D248V	probably benign	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Ola1	G	A	2: 72,972,308 (GRCm39)	T221I	probably damaging	Het
Or52z1	A	G	7: 103,436,593 (GRCm39)	I297T	probably damaging	Het
Or5t7	T	C	2: 86,507,236 (GRCm39)	Y147C	possibly damaging	Het
Or7e166	T	A	9: 19,624,428 (GRCm39)	S102T	probably benign	Het
Or8c20	T	A	9: 38,261,266 (GRCm39)	Y290N	probably damaging	Het
Phldb1	T	C	9: 44,623,201 (GRCm39)	T618A	possibly damaging	Het
Pkd1	T	G	17: 24,810,093 (GRCm39)	W3565G	probably damaging	Het
Prl3a1	A	T	13: 27,460,086 (GRCm39)	N190I	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ptpn11	C	T	5: 121,281,633 (GRCm39)	R484Q	probably benign	Het
Rapgef4	T	C	2: 72,071,820 (GRCm39)	M900T	probably damaging	Het
Slc1a2	A	T	2: 102,607,855 (GRCm39)	D501V	probably benign	Het
Smarcd3	G	T	5: 24,799,960 (GRCm39)	A270D	probably damaging	Het
Srgap2	A	G	1: 131,272,187 (GRCm39)	M33T		Het
Tle1	G	C	4: 72,076,612 (GRCm39)	P139A	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tsbp1	C	A	17: 34,659,856 (GRCm39)	T93N	possibly damaging	Het
Zfp658	T	A	7: 43,223,413 (GRCm39)	S563T	probably benign	Het
Zswim9	G	A	7: 12,993,679 (GRCm39)	R826C	probably 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
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
R8359:Cyp21a1	UTSW	17	35,021,105 (GRCm39)	critical splice donor site	probably null
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'- ACCATCTCATCCAGGTTGGC -3'
(R):5'- TAGGGTCAGCTAGATGGCAG -3'

Sequencing Primer
(F):5'- ATCCAGGTTGGCGCCTTG -3'
(R):5'- TGGGCAGCTGTGAGCCAC -3'

Posted On

2019-05-15