Mutagenetix > Incidental Mutation

Incidental Mutation 'R8157:Cyp2c23'

633110

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c23

Ensembl Gene

ENSMUSG00000025197

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 23

Synonyms

Cyp2c44

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44005022-44029208 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44021627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 93 (N93S)

Ref Sequence

ENSEMBL: ENSMUSP00000026211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026211] [ENSMUST00000211830]

AlphaFold

E9Q5K4

Predicted Effect

probably benign
Transcript: ENSMUST00000026211
AA Change: N93S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000026211
Gene: ENSMUSG00000025197
AA Change: N93S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	34	491	2.1e-152	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211830
AA Change: N93S

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele show reduced proliferative and tubulogenic responses in lung endothelial cells, decreased tumor angiogenesis and growth of induced tumors, and high potassium-induced hypertension with decreased urinary sodium excretion and increased plasma sodium levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310011J03Rik	T	A	10: 80,319,527	R51W	probably damaging	Het
3110002H16Rik	T	C	18: 12,188,633	V497A	possibly damaging	Het
Adam3	A	G	8: 24,707,437	I326T	probably benign	Het
Alpk3	A	G	7: 81,093,722	K1096E	probably benign	Het
Aph1a	T	C	3: 95,894,838	V44A	possibly damaging	Het
Ash1l	T	A	3: 89,063,707		probably null	Het
Atg2b	A	G	12: 105,662,940	M410T	probably damaging	Het
Ccdc15	C	T	9: 37,315,457	G407D	probably benign	Het
Cd200r4	T	A	16: 44,833,141	N137K	probably damaging	Het
Clec18a	A	G	8: 111,072,051	L438P	probably damaging	Het
Clip1	A	G	5: 123,630,719	S606P	probably benign	Het
Col11a2	G	A	17: 34,061,256	G1193E	unknown	Het
Col6a4	A	G	9: 106,067,898	S1006P	possibly damaging	Het
Ctsc	A	T	7: 88,302,208	D221V	probably benign	Het
Ctse	T	C	1: 131,672,511	Y333H	probably damaging	Het
Daam1	A	T	12: 71,952,489	D633V	probably damaging	Het
Dlg2	G	A	7: 92,386,932	R607H	probably damaging	Het
Dsg2	T	A	18: 20,580,549	D192E	probably damaging	Het
Dync2h1	A	T	9: 7,001,473	N3838K	possibly damaging	Het
Ephx2	A	C	14: 66,108,057	S153A	probably damaging	Het
Eprs	C	A	1: 185,398,394	H651N	probably benign	Het
Fat2	T	C	11: 55,252,084	D4313G	possibly damaging	Het
Fras1	A	G	5: 96,554,855	K252R	probably benign	Het
Galt	A	T	4: 41,757,226	Q193L	probably benign	Het
Gatsl2	T	C	5: 134,137,097	F228S	possibly damaging	Het
Gm21964	A	G	8: 110,108,861	M24V	probably benign	Het
Gm7356	T	C	17: 14,001,321	K149E	probably damaging	Het
Gmcl1	G	T	6: 86,721,426	A163E	probably damaging	Het
Hectd1	T	A	12: 51,791,290	R696S	possibly damaging	Het
Hydin	A	G	8: 110,452,036	I1088V	probably benign	Het
Igkv4-68	A	T	6: 69,305,322	S14R	probably benign	Het
Lamb2	C	T	9: 108,480,646	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,254,222	R202*	probably null	Het
Lrit3	T	C	3: 129,800,635	T98A	probably benign	Het
Macc1	A	G	12: 119,445,993	I165M	probably benign	Het
Mapre2	T	A	18: 23,858,161	M162K	probably benign	Het
Mzf1	T	A	7: 13,044,352	H454L	probably damaging	Het
Naa30	T	A	14: 49,173,408	N264K	probably benign	Het
Olfr199	A	G	16: 59,215,989	V208A	probably benign	Het
Olfr924	T	A	9: 38,848,466	Y117*	probably null	Het
Osr2	T	C	15: 35,301,917	I221T	probably benign	Het
Pcdh12	A	T	18: 38,282,797	I425K	probably benign	Het
Pcdhb3	T	G	18: 37,303,239	Y753D	probably damaging	Het
Pcdhb9	T	A	18: 37,403,155	V734E	probably damaging	Het
Pibf1	T	A	14: 99,196,395	L593I	probably benign	Het
Ppp1r32	A	T	19: 10,478,265	F207I	probably damaging	Het
Prag1	G	A	8: 36,147,239	C1315Y	probably damaging	Het
Prl3c1	T	C	13: 27,199,347	S19P	probably damaging	Het
Ptprz1	A	T	6: 23,002,540	D1543V	probably damaging	Het
Ripor2	A	G	13: 24,695,617	N356S	probably benign	Het
Scrib	T	C	15: 76,059,188	H914R	possibly damaging	Het
Sema6b	G	A	17: 56,128,448	A265V	probably damaging	Het
Tdrd9	C	G	12: 111,985,066	L97V	probably benign	Het
Trabd	T	A	15: 89,085,821	L340H	probably damaging	Het
Trpm1	T	C	7: 64,199,269	W88R	probably damaging	Het
Txndc12	G	T	4: 108,853,222		probably null	Het
Vmn1r175	T	C	7: 23,809,098	I35V	probably benign	Het
Vmn1r48	A	T	6: 90,036,012	V277E	probably damaging	Het
Vmn2r72	G	A	7: 85,751,233	H203Y	probably benign	Het
Zbtb7c	A	G	18: 76,137,327	E162G	probably benign	Het
Zfp93	T	A	7: 24,276,460	C623*	probably null	Het
Zzz3	A	G	3: 152,449,648	I645V	probably null	Het

Other mutations in Cyp2c23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01467:Cyp2c23	APN	19	44015073	missense	possibly damaging	0.94
IGL01642:Cyp2c23	APN	19	44005556	missense	probably damaging	1.00
IGL01782:Cyp2c23	APN	19	44029115	missense	possibly damaging	0.77
IGL01843:Cyp2c23	APN	19	44005607	missense	probably benign	0.02
IGL02902:Cyp2c23	APN	19	44021558	splice site	probably benign
IGL03382:Cyp2c23	APN	19	44014932	missense	probably damaging	0.99
R0196:Cyp2c23	UTSW	19	44012356	missense	probably damaging	0.98
R0735:Cyp2c23	UTSW	19	44016810	missense	probably damaging	1.00
R1384:Cyp2c23	UTSW	19	44013663	missense	probably damaging	1.00
R1495:Cyp2c23	UTSW	19	44005508	missense	probably benign	0.07
R1809:Cyp2c23	UTSW	19	44021558	splice site	probably benign
R1872:Cyp2c23	UTSW	19	44005551	nonsense	probably null
R2866:Cyp2c23	UTSW	19	44005446	missense	probably damaging	1.00
R3801:Cyp2c23	UTSW	19	44007039	missense	probably benign	0.11
R4234:Cyp2c23	UTSW	19	44029165	missense	unknown
R4748:Cyp2c23	UTSW	19	44016737	splice site	probably null
R4948:Cyp2c23	UTSW	19	44021699	missense	possibly damaging	0.49
R5101:Cyp2c23	UTSW	19	44029183	missense	unknown
R5420:Cyp2c23	UTSW	19	44015664	critical splice donor site	probably null
R5770:Cyp2c23	UTSW	19	44021579	missense	probably damaging	0.99
R5993:Cyp2c23	UTSW	19	44012360	missense	probably damaging	1.00
R6254:Cyp2c23	UTSW	19	44005463	missense	probably benign	0.03
R6269:Cyp2c23	UTSW	19	44029187	start codon destroyed	unknown
R6610:Cyp2c23	UTSW	19	44007081	missense	probably damaging	1.00
R7344:Cyp2c23	UTSW	19	44021737	splice site	probably null
R7603:Cyp2c23	UTSW	19	44014930	missense	probably damaging	1.00
R8054:Cyp2c23	UTSW	19	44007116	missense	probably damaging	0.99
R8098:Cyp2c23	UTSW	19	44015803	missense	probably benign	0.29
R8813:Cyp2c23	UTSW	19	44013615	missense	probably benign	0.07
R9497:Cyp2c23	UTSW	19	44021646	missense	probably damaging	0.99
X0065:Cyp2c23	UTSW	19	44029171	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTCACTTGCATTGGAATCCC -3'
(R):5'- GCAAAGGCCAAAACCTCTGTG -3'

Sequencing Primer
(F):5'- TGGAATCCCAACAAGCATTGC -3'
(R):5'- TCTGTGCAAAACTCACTTACTAGC -3'

Posted On

2020-06-30