Mutagenetix > Incidental Mutation

Incidental Mutation 'R8968:Cyp2b23'

682853

Institutional Source

Beutler Lab

Gene Symbol

Cyp2b23

Ensembl Gene

ENSMUSG00000040650

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 23

Synonyms

EG243881

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8968 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26665227-26686437 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26679538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 167 (P167L)

Ref Sequence

ENSEMBL: ENSMUSP00000076578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077356]

AlphaFold

E9Q593

Predicted Effect

probably damaging
Transcript: ENSMUST00000077356
AA Change: P167L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076578
Gene: ENSMUSG00000040650
AA Change: P167L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:p450	31	488	2.9e-148	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,332,310	L1153*	probably null	Het
2410089E03Rik	A	T	15: 8,201,281	H1014L	possibly damaging	Het
2810474O19Rik	T	A	6: 149,327,166	V570D	probably damaging	Het
Adamts2	T	C	11: 50,792,723	I944T	possibly damaging	Het
Aqp9	A	T	9: 71,138,203	C67*	probably null	Het
Armt1	G	T	10: 4,454,150	G412W	probably damaging	Het
B4galt1	T	C	4: 40,807,243	D381G	probably benign	Het
Bmp5	A	T	9: 75,873,297	H292L	probably benign	Het
Brpf1	T	C	6: 113,322,549	F1181S	probably damaging	Het
Btbd7	C	A	12: 102,812,766	G414C	probably damaging	Het
Ccdc65	A	T	15: 98,718,842	K204*	probably null	Het
Cdk5	T	A	5: 24,422,381	K88M	probably damaging	Het
Cdrt4	T	A	11: 62,992,808	L112Q	probably damaging	Het
Cenpb	T	C	2: 131,178,627	E417G	unknown	Het
Cep135	T	C	5: 76,606,729	I351T	possibly damaging	Het
Ces1d	A	T	8: 93,187,755	S226R	probably damaging	Het
Cfap97	T	A	8: 46,170,077	V168E	possibly damaging	Het
CN725425	T	C	15: 91,245,887	C318R	possibly damaging	Het
Cnga3	T	A	1: 37,261,379	D393E	probably benign	Het
Cpsf1	G	A	15: 76,601,969	R358*	probably null	Het
Cyp2c70	A	T	19: 40,153,615	H477Q	probably benign	Het
D930020B18Rik	A	C	10: 121,654,816	Y107S	probably damaging	Het
Dhrs1	A	T	14: 55,740,735	F216I	probably benign	Het
Dmgdh	A	T	13: 93,709,259	K474*	probably null	Het
Dsp	T	C	13: 38,151,620	I11T	possibly damaging	Het
Erh	G	T	12: 80,637,508	A65E	probably benign	Het
Fmnl1	AGGCTCTGG	AGG	11: 103,186,618		probably benign	Het
Grid2	A	C	6: 64,666,155	H967P	probably benign	Het
Hc	A	G	2: 35,032,305	I503T	possibly damaging	Het
Herc3	T	C	6: 58,890,198	L824S	probably damaging	Het
Hfm1	T	C	5: 106,917,573	D80G	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Hspa1l	A	G	17: 34,977,254	K90E	possibly damaging	Het
Impa2	G	A	18: 67,318,427	V264I	probably benign	Het
Ipmk	C	T	10: 71,363,503	R65W	probably damaging	Het
Klhl38	C	T	15: 58,322,104	V410I	probably benign	Het
Lcn4	A	G	2: 26,668,348	I175T	possibly damaging	Het
Lipo2	C	A	19: 33,749,517	W40L	probably damaging	Het
Mgam	A	T	6: 40,757,811		probably null	Het
Myo16	T	A	8: 10,569,700	I1417N	unknown	Het
Olfr1052	G	A	2: 86,298,182	R122H	probably benign	Het
Olfr1196	T	A	2: 88,700,793	I179F	probably benign	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr603	A	T	7: 103,383,460	C181S	probably damaging	Het
Pcdha11	A	G	18: 37,012,254	N466S	probably damaging	Het
Pif1	C	T	9: 65,591,794	T432M	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 109,623,788		probably benign	Het
Pole	T	C	5: 110,312,083	S1118P	possibly damaging	Het
Ppp4r4	T	C	12: 103,600,447	M652T	probably benign	Het
Prex2	A	T	1: 11,110,338	K376*	probably null	Het
Prps1l1	A	T	12: 34,985,206	I107F	probably damaging	Het
Rfc1	C	T	5: 65,275,435	V761I	probably benign	Het
Ripk4	T	C	16: 97,746,003	E353G	probably benign	Het
Robo2	C	A	16: 73,971,053		probably null	Het
Rrm1	C	T	7: 102,468,338	A745V	probably benign	Het
Sash1	A	T	10: 8,730,415	V737D	probably benign	Het
Sel1l2	T	C	2: 140,285,289	K101E	probably benign	Het
Selenbp2	A	T	3: 94,700,030	I253F	probably benign	Het
Setd1a	C	T	7: 127,786,107	P662L	possibly damaging	Het
Slc16a6	C	T	11: 109,454,950	V496I	possibly damaging	Het
Slc4a4	A	T	5: 89,084,653	M239L	probably benign	Het
Slc7a8	G	C	14: 54,781,293	A12G	probably benign	Het
Snx30	T	C	4: 59,886,517	S309P	possibly damaging	Het
Spen	T	C	4: 141,470,390	N3389S	probably benign	Het
Spg11	T	C	2: 122,092,206	T921A	probably damaging	Het
Tanc2	T	A	11: 105,867,574	D720E	possibly damaging	Het
Tmprss9	A	T	10: 80,894,329	I688F	possibly damaging	Het
Trap1	A	G	16: 4,044,626	V596A	possibly damaging	Het
Ttc32	G	T	12: 9,030,187	R44L	probably benign	Het
Tusc3	T	A	8: 39,130,744	N288K	probably benign	Het
Ush2a	G	A	1: 188,395,759	G656E	probably damaging	Het
Vill	T	C	9: 119,063,603		probably null	Het
Vmn1r5	A	T	6: 56,986,197	R286*	probably null	Het
Vmn2r14	T	C	5: 109,217,667	T514A	probably benign	Het
Vmn2r32	G	A	7: 7,474,205	H396Y	probably benign	Het
Vmn2r75	A	T	7: 86,171,557	Y56*	probably null	Het
Wdfy3	C	T	5: 101,864,117	S2668N	probably benign	Het
Wdr72	G	A	9: 74,152,447	D392N	probably benign	Het
Zfp518a	A	C	19: 40,913,426	K600Q	possibly damaging	Het

Other mutations in Cyp2b23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01716:Cyp2b23	APN	7	26679490	missense	probably damaging	0.98
IGL01879:Cyp2b23	APN	7	26672854	missense	probably benign	0.04
IGL02207:Cyp2b23	APN	7	26681755	missense	probably damaging	1.00
IGL03047:Cyp2b23	APN	7	26681467	splice site	probably benign
R0117:Cyp2b23	UTSW	7	26673114	missense	probably benign	0.25
R0265:Cyp2b23	UTSW	7	26672879	splice site	probably benign
R1457:Cyp2b23	UTSW	7	26673149	missense	probably damaging	1.00
R1605:Cyp2b23	UTSW	7	26686418	missense	probably benign	0.02
R1639:Cyp2b23	UTSW	7	26686417	missense	possibly damaging	0.77
R1741:Cyp2b23	UTSW	7	26673077	missense	possibly damaging	0.94
R2042:Cyp2b23	UTSW	7	26666108	missense	probably damaging	1.00
R3911:Cyp2b23	UTSW	7	26681417	missense	probably benign	0.02
R4078:Cyp2b23	UTSW	7	26673092	missense	probably damaging	1.00
R4279:Cyp2b23	UTSW	7	26666027	missense	possibly damaging	0.89
R4668:Cyp2b23	UTSW	7	26672734	missense	probably damaging	1.00
R5419:Cyp2b23	UTSW	7	26681423	nonsense	probably null
R5516:Cyp2b23	UTSW	7	26673057	nonsense	probably null
R5723:Cyp2b23	UTSW	7	26681396	missense	probably benign	0.41
R5873:Cyp2b23	UTSW	7	26675006	missense	probably benign	0.02
R6346:Cyp2b23	UTSW	7	26681725	missense	probably damaging	0.98
R6977:Cyp2b23	UTSW	7	26681320	missense	possibly damaging	0.87
R7131:Cyp2b23	UTSW	7	26681413	missense	probably benign	0.25
R7181:Cyp2b23	UTSW	7	26674403	missense	probably damaging	1.00
R7715:Cyp2b23	UTSW	7	26681695	missense	probably benign
R7877:Cyp2b23	UTSW	7	26686426	missense	probably damaging	0.97
R7880:Cyp2b23	UTSW	7	26673134	missense	probably damaging	1.00
R8004:Cyp2b23	UTSW	7	26679466	missense	probably benign
R8072:Cyp2b23	UTSW	7	26666006	missense	probably damaging	1.00
R8083:Cyp2b23	UTSW	7	26686403	missense	possibly damaging	0.62
R9129:Cyp2b23	UTSW	7	26681764	splice site	probably benign
R9437:Cyp2b23	UTSW	7	26672774	missense	possibly damaging	0.68
R9794:Cyp2b23	UTSW	7	26681696	missense	probably benign	0.14
Z1088:Cyp2b23	UTSW	7	26681411	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AAAGCAGGCTCTTGCTTCC -3'
(R):5'- TCTGTTCAGCATTGAGGGAAG -3'

Sequencing Primer
(F):5'- GCTTCCTCTGCCCTGGATG -3'
(R):5'- TGATACATGCATTACTGAGGGC -3'

Posted On

2021-10-11