Mutagenetix > Incidental Mutation

Incidental Mutation 'R8460:Cyp21a1'

655240

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

067905-MU

Accession Numbers

Essential gene?

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

Stock #

R8460 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35020322-35023400 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35021844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 241 (D241G)

Ref Sequence

ENSEMBL: ENSMUSP00000025223 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025223
AA Change: D241G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025223
Gene: ENSMUSG00000024365
AA Change: D241G

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% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
6030458C11Rik	T	C	15: 12,818,545 (GRCm39)		probably benign	Het
Abcb11	T	C	2: 69,154,381 (GRCm39)	M62V	possibly damaging	Het
Adgrf5	C	A	17: 43,750,699 (GRCm39)		probably benign	Het
Arhgap23	T	A	11: 97,343,197 (GRCm39)	V493D	probably damaging	Het
Atg9b	T	C	5: 24,591,966 (GRCm39)	K678E	probably damaging	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Cd180	T	C	13: 102,839,354 (GRCm39)	L79P	probably damaging	Het
Celsr2	C	T	3: 108,304,093 (GRCm39)	S2350N	possibly damaging	Het
Cep85l	C	A	10: 53,225,313 (GRCm39)	R92L	probably benign	Het
Dock2	C	A	11: 34,180,825 (GRCm39)		probably null	Het
Fam163a	A	G	1: 155,955,712 (GRCm39)	Y27H	probably damaging	Het
Gmnc	G	A	16: 26,779,204 (GRCm39)	L274F	probably benign	Het
Gpc2	A	T	5: 138,274,891 (GRCm39)	C283S	probably damaging	Het
Grm5	A	G	7: 87,252,249 (GRCm39)	I166M	probably damaging	Het
Ighv3-1	A	T	12: 113,928,056 (GRCm39)	L101*	probably null	Het
Impact	C	T	18: 13,109,564 (GRCm39)	S86L	probably benign	Het
Kif1b	C	T	4: 149,272,077 (GRCm39)	V1575I	possibly damaging	Het
Klhl6	A	G	16: 19,775,781 (GRCm39)	V259A	probably damaging	Het
Krt81	G	T	15: 101,361,493 (GRCm39)	A29E	probably damaging	Het
Ldah	A	G	12: 8,318,548 (GRCm39)	N219S	probably benign	Het
Map3k12	C	T	15: 102,410,032 (GRCm39)	R581Q	probably damaging	Het
Marveld3	T	C	8: 110,681,040 (GRCm39)	D285G	probably benign	Het
Mcpt2	A	G	14: 56,281,201 (GRCm39)	D135G	possibly damaging	Het
Megf6	T	A	4: 154,350,634 (GRCm39)	C1048*	probably null	Het
Megf9	A	T	4: 70,374,208 (GRCm39)	V276D	probably damaging	Het
Nfya	T	C	17: 48,698,974 (GRCm39)	H273R	possibly damaging	Het
Olah	T	A	2: 3,362,762 (GRCm39)	Q21H	probably damaging	Het
Or10s1	T	C	9: 39,986,353 (GRCm39)	L254P	probably damaging	Het
Or51t4	T	A	7: 102,598,531 (GRCm39)	C286*	probably null	Het
Or7g21	T	C	9: 19,032,988 (GRCm39)	S243P	probably damaging	Het
Or8b47	A	T	9: 38,427,926 (GRCm39)		probably benign	Het
Or8k23	T	G	2: 86,186,198 (GRCm39)	H176P	probably damaging	Het
Or9s23	T	A	1: 92,501,268 (GRCm39)	M125K	probably damaging	Het
Pcdhgb6	T	A	18: 37,877,278 (GRCm39)	L662Q	possibly damaging	Het
Pou4f3	T	C	18: 42,529,053 (GRCm39)	M332T	probably damaging	Het
Pramel19	C	T	4: 101,798,424 (GRCm39)	P132S	probably benign	Het
Pramel58	T	A	5: 94,831,790 (GRCm39)	C266S	probably benign	Het
Prg4	G	A	1: 150,331,692 (GRCm39)	S327L	possibly damaging	Het
Rdh5	C	T	10: 128,754,136 (GRCm39)	R99H	probably benign	Het
Setd1a	T	C	7: 127,383,292 (GRCm39)	F263L	unknown	Het
Setd2	A	G	9: 110,423,338 (GRCm39)	N353S		Het
Sh3gl1	T	C	17: 56,326,321 (GRCm39)	N109S	probably benign	Het
Sidt1	A	T	16: 44,107,705 (GRCm39)	Y188*	probably null	Het
Slc25a13	A	T	6: 6,073,513 (GRCm39)	N448K	probably damaging	Het
Slc44a5	G	A	3: 153,975,667 (GRCm39)	V693M	probably benign	Het
Smad7	T	C	18: 75,503,968 (GRCm39)	S206P	probably damaging	Het
Snx33	T	A	9: 56,833,476 (GRCm39)	I198F	possibly damaging	Het
Vps13d	A	T	4: 144,897,009 (GRCm39)		probably benign	Het
Vps33b	T	C	7: 79,937,617 (GRCm39)	V455A	probably benign	Het
Zdbf2	CGCTCCGTGCCCCCCGCGCGCCCCGTGCCTCCCACGCGCCCCGTGCCTCCCGCAGGCTCCGTGCCCCCCGCG	CGCTCCGTGCCCCCCGCG	1: 63,348,729 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,348,373 (GRCm39)	H730Q	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
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
R8359:Cyp21a1	UTSW	17	35,021,105 (GRCm39)	critical splice donor site	probably null
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'- AAGGAGCAGTCTTCCCACAG -3'
(R):5'- CCTCCAGAAGCTGAAGCAGATC -3'

Sequencing Primer
(F):5'- GCAGTCTTCCCACAGTGCAC -3'
(R):5'- CCAAGAGAGTCGGGACCATATTGTC -3'

Posted On

2020-10-20