Mutagenetix > Incidental Mutation

Incidental Mutation 'R5651:Cyp2c38'

441454

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c38

Ensembl Gene

ENSMUSG00000032808

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 38

Synonyms

MMRRC Submission

043297-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5651 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39379109-39451519 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39449156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 66 (T66S)

Ref Sequence

ENSEMBL: ENSMUSP00000044722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035488]

AlphaFold

P56655

Predicted Effect

probably damaging
Transcript: ENSMUST00000035488
AA Change: T66S

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

SMART Domains

Protein: ENSMUSP00000044722
Gene: ENSMUSG00000032808
AA Change: T66S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:p450	30	487	1.5e-161	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	A	11: 48,910,700 (GRCm39)	H578Y	probably damaging	Het
Atp11b	A	G	3: 35,909,289 (GRCm39)	D1161G	probably damaging	Het
Atp8b1	G	C	18: 64,664,453 (GRCm39)	I1238M	probably benign	Het
AY358078	T	A	14: 52,059,617 (GRCm39)	V318D	unknown	Het
B020004C17Rik	C	T	14: 57,252,689 (GRCm39)		probably benign	Het
Boc	T	A	16: 44,341,558 (GRCm39)	I16F	probably benign	Het
Brinp3	A	T	1: 146,577,537 (GRCm39)	T191S	probably benign	Het
Cald1	T	A	6: 34,739,255 (GRCm39)	N419K	probably damaging	Het
Cecr2	G	A	6: 120,732,521 (GRCm39)	G471D	probably damaging	Het
Cftr	T	A	6: 18,255,364 (GRCm39)		probably null	Het
Fbxo11	A	T	17: 88,323,136 (GRCm39)	D83E	probably benign	Het
Fshr	T	A	17: 89,293,257 (GRCm39)	M474L	possibly damaging	Het
Hhla1	T	A	15: 65,813,663 (GRCm39)	E223V	probably damaging	Het
Hnrnpa1	G	C	15: 103,148,955 (GRCm39)	E5D	possibly damaging	Het
Htr2a	T	A	14: 74,943,143 (GRCm39)	V241E	probably damaging	Het
Ier5	T	C	1: 154,974,491 (GRCm39)	E229G	possibly damaging	Het
Inka2	C	A	3: 105,623,748 (GRCm39)	Q22K	probably damaging	Het
Krt87	A	T	15: 101,331,910 (GRCm39)	M276K	possibly damaging	Het
Mast1	G	C	8: 85,655,597 (GRCm39)	Y182*	probably null	Het
Mia3	T	A	1: 183,139,998 (GRCm39)	D239V	probably damaging	Het
Mmut	T	A	17: 41,258,002 (GRCm39)	D389E	probably damaging	Het
Mpp7	A	G	18: 7,355,016 (GRCm39)		probably null	Het
Mycbp2	A	G	14: 103,520,101 (GRCm39)	C739R	probably null	Het
Or13e8	C	G	4: 43,696,636 (GRCm39)	C179S	probably damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or8k21	A	G	2: 86,144,784 (GRCm39)	I282T	probably benign	Het
Or9e1	A	T	11: 58,732,317 (GRCm39)	R126*	probably null	Het
Palld	A	T	8: 61,991,822 (GRCm39)	I510N	probably damaging	Het
Pappa	A	G	4: 65,074,589 (GRCm39)	E381G	probably damaging	Het
Phldb1	G	A	9: 44,623,200 (GRCm39)	T618I	probably damaging	Het
Pkd1	A	G	17: 24,810,361 (GRCm39)	E3631G	possibly damaging	Het
Pkhd1	C	T	1: 20,188,031 (GRCm39)	V3426I	probably benign	Het
Plk4	A	G	3: 40,767,940 (GRCm39)	T828A	probably benign	Het
Psmb5	C	T	14: 54,854,221 (GRCm39)	A86T	possibly damaging	Het
Rasal2	A	G	1: 156,984,951 (GRCm39)	V907A	probably damaging	Het
Rxra	C	T	2: 27,627,353 (GRCm39)	T24M	probably benign	Het
Senp1	A	G	15: 97,974,498 (GRCm39)	S105P	probably benign	Het
Sh3rf1	A	G	8: 61,816,201 (GRCm39)	D486G	probably damaging	Het
Slc49a4	G	A	16: 35,555,986 (GRCm39)	A158V	probably benign	Het
Slfn5	A	C	11: 82,851,490 (GRCm39)	N596H	probably benign	Het
Tanc2	T	A	11: 105,689,526 (GRCm39)	D229E	probably benign	Het
Taok2	T	C	7: 126,479,455 (GRCm39)	K57E	probably damaging	Het
Thsd7a	C	T	6: 12,343,212 (GRCm39)	C1135Y	probably damaging	Het
V1ra8	T	C	6: 90,180,508 (GRCm39)	L237P	probably benign	Het
Vcpip1	G	A	1: 9,818,065 (GRCm39)	T106M	probably damaging	Het
Vmn1r215	T	G	13: 23,259,981 (GRCm39)	I7S	possibly damaging	Het
Vmn1r233	T	A	17: 21,214,279 (GRCm39)	M224L	probably benign	Het
Xpot	A	T	10: 121,440,454 (GRCm39)	D592E	probably damaging	Het

Other mutations in Cyp2c38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Cyp2c38	APN	19	39,449,169 (GRCm39)	nonsense	probably null
IGL01109:Cyp2c38	APN	19	39,451,329 (GRCm39)	critical splice donor site	probably null
IGL01521:Cyp2c38	APN	19	39,449,114 (GRCm39)	missense	probably damaging	0.99
IGL02036:Cyp2c38	APN	19	39,448,760 (GRCm39)	missense	probably null	0.97
IGL02187:Cyp2c38	APN	19	39,424,649 (GRCm39)	missense	probably benign	0.14
IGL02954:Cyp2c38	APN	19	39,379,520 (GRCm39)	missense	probably damaging	0.99
R0479:Cyp2c38	UTSW	19	39,451,449 (GRCm39)	missense	probably damaging	0.99
R0684:Cyp2c38	UTSW	19	39,379,500 (GRCm39)	missense	probably damaging	0.99
R0919:Cyp2c38	UTSW	19	39,393,113 (GRCm39)	missense	probably benign	0.07
R1462:Cyp2c38	UTSW	19	39,380,632 (GRCm39)	missense	probably damaging	0.96
R1462:Cyp2c38	UTSW	19	39,380,632 (GRCm39)	missense	probably damaging	0.96
R1642:Cyp2c38	UTSW	19	39,390,153 (GRCm39)	missense	probably damaging	1.00
R1715:Cyp2c38	UTSW	19	39,393,239 (GRCm39)	missense	probably benign	0.25
R1900:Cyp2c38	UTSW	19	39,426,756 (GRCm39)	missense	probably benign	0.40
R1954:Cyp2c38	UTSW	19	39,393,131 (GRCm39)	missense	probably damaging	0.99
R1955:Cyp2c38	UTSW	19	39,393,131 (GRCm39)	missense	probably damaging	0.99
R2860:Cyp2c38	UTSW	19	39,449,138 (GRCm39)	missense	probably benign	0.01
R2861:Cyp2c38	UTSW	19	39,449,138 (GRCm39)	missense	probably benign	0.01
R2862:Cyp2c38	UTSW	19	39,449,138 (GRCm39)	missense	probably benign	0.01
R3084:Cyp2c38	UTSW	19	39,390,145 (GRCm39)	missense	probably benign	0.00
R3727:Cyp2c38	UTSW	19	39,380,739 (GRCm39)	splice site	probably benign
R4648:Cyp2c38	UTSW	19	39,449,132 (GRCm39)	missense	probably benign	0.05
R5119:Cyp2c38	UTSW	19	39,449,065 (GRCm39)	missense	probably damaging	1.00
R5636:Cyp2c38	UTSW	19	39,426,750 (GRCm39)	nonsense	probably null
R6263:Cyp2c38	UTSW	19	39,380,659 (GRCm39)	missense	probably damaging	1.00
R6384:Cyp2c38	UTSW	19	39,380,737 (GRCm39)	splice site	probably null
R6853:Cyp2c38	UTSW	19	39,426,748 (GRCm39)	missense	probably benign	0.02
R6915:Cyp2c38	UTSW	19	39,424,512 (GRCm39)	missense	probably damaging	0.99
R7201:Cyp2c38	UTSW	19	39,390,220 (GRCm39)	missense	probably damaging	1.00
R7570:Cyp2c38	UTSW	19	39,393,187 (GRCm39)	missense	possibly damaging	0.76
R7625:Cyp2c38	UTSW	19	39,451,368 (GRCm39)	missense	possibly damaging	0.78
R7666:Cyp2c38	UTSW	19	39,426,686 (GRCm39)	missense	possibly damaging	0.52
R8681:Cyp2c38	UTSW	19	39,390,135 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CCCACTGTATCTAAGAAGGAAGCC -3'
(R):5'- ACATGGTTGACTGTAGGCAATTG -3'

Sequencing Primer
(F):5'- GGAAGCCATCCCTTTCTTT -3'
(R):5'- GACTGTAGGCAATTGATAATTACCAC -3'

Posted On

2016-11-08