Mutagenetix > Incidental Mutation

Incidental Mutation 'R8728:Cyp2c67'

662617

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c67

Ensembl Gene

ENSMUSG00000062624

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 67

Synonyms

C730004C24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R8728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39608842-39649051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 39626161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 307 (R307S)

Ref Sequence

ENSEMBL: ENSMUSP00000065796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067328]

AlphaFold

Q569X9

Predicted Effect

probably damaging
Transcript: ENSMUST00000067328
AA Change: R307S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065796
Gene: ENSMUSG00000062624
AA Change: R307S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	8.5e-150	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,757,312	T514A	probably benign	Het
Adam2	A	G	14: 66,057,637	L253P	probably damaging	Het
Adamts20	C	T	15: 94,331,400	G946D	probably benign	Het
Afdn	A	G	17: 13,898,945	R1648G	probably damaging	Het
Ak9	G	A	10: 41,406,963	A1242T		Het
Anxa9	T	C	3: 95,302,668	K127E	probably damaging	Het
Atp6v0a2	T	C	5: 124,719,088	S739P	probably benign	Het
Bloc1s6	A	T	2: 122,746,106	M122L	possibly damaging	Het
Bms1	A	G	6: 118,392,370	I990T	possibly damaging	Het
Cdk14	G	A	5: 5,420,117		silent	Het
Celsr3	T	C	9: 108,846,741	L2899S	probably benign	Het
Ces1b	A	T	8: 93,071,948	D203E	probably benign	Het
Cnnm1	A	G	19: 43,484,926	N753S	probably benign	Het
Col19a1	C	T	1: 24,326,032	G501R	probably damaging	Het
Cym	A	G	3: 107,218,675	F91L	possibly damaging	Het
Cyp3a59	G	A	5: 146,098,312		probably null	Het
Cyp4a31	G	A	4: 115,565,028	E70K	probably benign	Het
Dagla	G	A	19: 10,248,407	R798C	probably damaging	Het
Dcaf1	C	T	9: 106,846,806	R478C	possibly damaging	Het
Dcbld1	T	C	10: 52,233,833	L28P	probably benign	Het
Ddr2	T	C	1: 170,001,983	D234G	possibly damaging	Het
Fam83a	T	A	15: 58,009,666	M297K	possibly damaging	Het
Galnt18	T	A	7: 111,520,036	D426V	probably damaging	Het
Gm10093	A	G	17: 78,492,903	K441R	probably benign	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 142,156,529		probably benign	Het
Gm43302	T	C	5: 105,290,927	I32V	probably benign	Het
Gm9944	T	C	4: 144,453,031	Y96C	unknown	Het
Impdh2	C	T	9: 108,560,363		probably benign	Het
Iws1	G	A	18: 32,083,281	R358Q	probably damaging	Het
Kctd18	G	T	1: 57,963,130	D179E	probably damaging	Het
Krt13	T	G	11: 100,121,492	S2R	probably null	Het
Krt78	A	T	15: 101,947,790	S529T	probably benign	Het
Krtap4-7	C	G	11: 99,643,962	C25S	unknown	Het
Lama1	T	C	17: 67,818,668	I2940T		Het
Lmnb2	A	G	10: 80,905,079		probably null	Het
Lrrc27	A	T	7: 139,242,639	E482V	probably damaging	Het
Lrrc72	G	A	12: 36,208,657	T67M	probably benign	Het
Malrd1	T	A	2: 15,696,942	C789*	probably null	Het
Mei1	T	G	15: 82,081,981	V268G		Het
Mical3	C	A	6: 120,973,553	A966S	probably damaging	Het
Mmp10	C	T	9: 7,502,479	P29L	probably benign	Het
Mroh2b	T	C	15: 4,905,640	F186L	probably damaging	Het
Muc4	A	T	16: 32,754,952	T1609S	unknown	Het
Myrfl	A	T	10: 116,798,640	C616*	probably null	Het
Ncor1	C	T	11: 62,330,859	A946T	probably benign	Het
Olfr122	C	A	17: 37,771,751	L33M	probably damaging	Het
Olfr330	T	C	11: 58,529,201	T262A	probably benign	Het
Pbp2	T	C	6: 135,310,106	Y81C	probably benign	Het
Plekhh1	C	A	12: 79,069,088	Q802K	possibly damaging	Het
Pnldc1	A	T	17: 12,897,278	F279Y	probably damaging	Het
Psmb5	A	T	14: 54,617,804	L63Q	probably damaging	Het
Rasa3	C	T	8: 13,586,873		probably null	Het
Rbm4b	G	A	19: 4,762,191	M209I	probably benign	Het
Rnf38	A	G	4: 44,131,615	S421P	probably benign	Het
Sema5a	T	C	15: 32,562,557	V238A	probably damaging	Het
Sesn1	G	T	10: 41,903,775	G402W	probably damaging	Het
Six4	A	G	12: 73,112,406	V260A	probably benign	Het
Srrm2	G	A	17: 23,819,857	R1825Q	unknown	Het
Stat1	G	A	1: 52,139,194	W262*	probably null	Het
Tcf20	A	T	15: 82,854,957	D764E	probably damaging	Het
Tgm2	T	C	2: 158,120,145	N585D	probably benign	Het
Tmf1	A	T	6: 97,156,860	L1039H	probably damaging	Het
Trak2	A	G	1: 58,935,775	V86A	probably benign	Het
Ttc39b	A	G	4: 83,253,010	I202T	probably damaging	Het
Uhrf1bp1l	A	T	10: 89,782,720	M274L	probably benign	Het
Vmn1r30	A	G	6: 58,435,475	F124S	probably benign	Het
Vwa7	T	A	17: 35,017,157	F29Y	probably damaging	Het
Wdr64	A	T	1: 175,731,513	M281L	probably benign	Het
Zfand2a	C	T	5: 139,481,998	V40M	possibly damaging	Het
Zfp865	G	C	7: 5,031,820	A935P	probably damaging	Het

Other mutations in Cyp2c67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Cyp2c67	APN	19	39643385	missense	possibly damaging	0.95
IGL01025:Cyp2c67	APN	19	39639932	nonsense	probably null
IGL01363:Cyp2c67	APN	19	39639967	missense	probably damaging	0.99
IGL01819:Cyp2c67	APN	19	39615721	missense	probably damaging	0.98
IGL01902:Cyp2c67	APN	19	39649026	missense	probably damaging	1.00
IGL02172:Cyp2c67	APN	19	39649002	missense	possibly damaging	0.76
IGL02351:Cyp2c67	APN	19	39617417	missense	probably damaging	1.00
IGL02355:Cyp2c67	APN	19	39643405	missense	probably benign	0.34
IGL02355:Cyp2c67	APN	19	39617382	nonsense	probably null
IGL02358:Cyp2c67	APN	19	39617417	missense	probably damaging	1.00
IGL02362:Cyp2c67	APN	19	39643405	missense	probably benign	0.34
IGL02362:Cyp2c67	APN	19	39617382	nonsense	probably null
IGL02388:Cyp2c67	APN	19	39643355	missense	probably benign	0.20
IGL03106:Cyp2c67	APN	19	39643675	missense	probably benign	0.27
IGL03219:Cyp2c67	APN	19	39643294	missense	possibly damaging	0.54
IGL03326:Cyp2c67	APN	19	39643269	critical splice donor site	probably null
IGL03349:Cyp2c67	APN	19	39643684	missense	probably damaging	1.00
IGL03356:Cyp2c67	APN	19	39639961	missense	probably damaging	1.00
IGL03052:Cyp2c67	UTSW	19	39648885	missense	possibly damaging	0.88
R0585:Cyp2c67	UTSW	19	39638694	missense	possibly damaging	0.59
R0975:Cyp2c67	UTSW	19	39609178	missense	possibly damaging	0.49
R0976:Cyp2c67	UTSW	19	39643374	missense	probably damaging	1.00
R1252:Cyp2c67	UTSW	19	39626141	missense	possibly damaging	0.93
R1398:Cyp2c67	UTSW	19	39638625	missense	probably damaging	0.96
R1411:Cyp2c67	UTSW	19	39638591	missense	probably damaging	1.00
R1505:Cyp2c67	UTSW	19	39648964	missense	probably benign	0.00
R1543:Cyp2c67	UTSW	19	39643264	splice site	probably benign
R1613:Cyp2c67	UTSW	19	39626199	missense	probably benign	0.00
R1618:Cyp2c67	UTSW	19	39643264	splice site	probably benign
R1667:Cyp2c67	UTSW	19	39643590	critical splice donor site	probably null
R1852:Cyp2c67	UTSW	19	39617367	missense	probably benign	0.01
R2005:Cyp2c67	UTSW	19	39643345	missense	probably damaging	1.00
R2105:Cyp2c67	UTSW	19	39626237	missense	probably benign	0.24
R2181:Cyp2c67	UTSW	19	39609097	missense	possibly damaging	0.94
R3817:Cyp2c67	UTSW	19	39638683	missense	probably benign	0.00
R4669:Cyp2c67	UTSW	19	39643654	missense	probably benign	0.00
R4689:Cyp2c67	UTSW	19	39638588	missense	probably benign	0.00
R4756:Cyp2c67	UTSW	19	39643744	missense	probably benign	0.03
R4823:Cyp2c67	UTSW	19	39615724	missense	probably benign	0.13
R5152:Cyp2c67	UTSW	19	39638688	missense	probably benign	0.00
R5345:Cyp2c67	UTSW	19	39626232	missense	probably benign	0.01
R5580:Cyp2c67	UTSW	19	39615650	missense	probably damaging	0.99
R5644:Cyp2c67	UTSW	19	39615694	missense	possibly damaging	0.84
R6116:Cyp2c67	UTSW	19	39617435	missense	probably damaging	1.00
R6516:Cyp2c67	UTSW	19	39617429	missense	probably damaging	1.00
R6550:Cyp2c67	UTSW	19	39617410	nonsense	probably null
R6939:Cyp2c67	UTSW	19	39643334	missense	possibly damaging	0.68
R6995:Cyp2c67	UTSW	19	39615679	missense	probably damaging	0.96
R7028:Cyp2c67	UTSW	19	39639897	missense	possibly damaging	0.68
R7144:Cyp2c67	UTSW	19	39615694	missense	probably benign	0.00
R7242:Cyp2c67	UTSW	19	39617339	missense	probably benign	0.30
R7335:Cyp2c67	UTSW	19	39640007	nonsense	probably null
R7337:Cyp2c67	UTSW	19	39609264	splice site	probably null
R7474:Cyp2c67	UTSW	19	39617432	missense	probably null	0.05
R7642:Cyp2c67	UTSW	19	39615640	missense	probably damaging	0.97
R7870:Cyp2c67	UTSW	19	39609225	missense	probably damaging	1.00
R8152:Cyp2c67	UTSW	19	39640008	missense	probably benign	0.21
R8367:Cyp2c67	UTSW	19	39638674	missense	probably benign	0.01
R8717:Cyp2c67	UTSW	19	39638711	missense	probably benign	0.05
R9275:Cyp2c67	UTSW	19	39609255	missense	probably damaging	1.00
R9278:Cyp2c67	UTSW	19	39609255	missense	probably damaging	1.00
R9376:Cyp2c67	UTSW	19	39638734	missense	probably damaging	1.00
Z1177:Cyp2c67	UTSW	19	39643679	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GCTTTTCAACTGCTCAGGTATC -3'
(R):5'- CTACACCACAGTCTCTGAAATGG -3'

Sequencing Primer
(F):5'- CAACTGCTCAGGTATCTTCATTTAC -3'
(R):5'- GCCACTGATGAACATTTTAGATTCTG -3'

Posted On

2021-03-08