Mutagenetix > Incidental Mutation

Incidental Mutation 'R2509:Cyp2c50'

251874

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c50

Ensembl Gene

ENSMUSG00000054827

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 50

Synonyms

MMRRC Submission

040415-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R2509 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40078132-40102394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40079013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 119 (V119I)

Ref Sequence

ENSEMBL: ENSMUSP00000079065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068094] [ENSMUST00000080171]

AlphaFold

Q91X77

Predicted Effect

probably benign
Transcript: ENSMUST00000068094
AA Change: V119I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068039
Gene: ENSMUSG00000054827
AA Change: V119I

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	225	3.7e-54	PFAM
Pfam:p450	213	428	6.8e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080171
AA Change: V119I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079065
Gene: ENSMUSG00000054827
AA Change: V119I

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:p450	30	487	1.2e-162	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124391

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (105/109)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,200,102 (GRCm39)	I497V	probably benign	Het
4930571K23Rik	C	A	7: 124,968,311 (GRCm39)		noncoding transcript	Het
Abca17	G	T	17: 24,508,587 (GRCm39)		probably benign	Het
Ablim1	C	T	19: 57,140,791 (GRCm39)	R196Q	probably damaging	Het
Acot11	T	C	4: 106,612,516 (GRCm39)	I379V	possibly damaging	Het
Acot4	G	A	12: 84,088,647 (GRCm39)	G165D	probably damaging	Het
Agrn	A	T	4: 156,250,881 (GRCm39)		probably null	Het
Ahctf1	T	C	1: 179,598,258 (GRCm39)	S945G	possibly damaging	Het
Akr1c13	C	T	13: 4,248,583 (GRCm39)	R263C	probably damaging	Het
Arfgap1	T	A	2: 180,615,846 (GRCm39)		probably benign	Het
Arhgef3	A	G	14: 27,101,633 (GRCm39)	K103R	probably damaging	Het
Cabp1	A	T	5: 115,310,843 (GRCm39)	N211K	probably damaging	Het
Cacna1c	T	A	6: 118,711,943 (GRCm39)	D261V	probably damaging	Het
Car11	G	A	7: 45,350,783 (GRCm39)	G93E	probably damaging	Het
Card10	A	G	15: 78,664,473 (GRCm39)	I821T	probably benign	Het
Cast	T	C	13: 74,885,735 (GRCm39)	I277V	probably benign	Het
Cenpj	T	C	14: 56,769,694 (GRCm39)	K1165R	probably null	Het
Cenpk	A	G	13: 104,370,675 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,394,169 (GRCm39)	K353E	probably benign	Het
Cmya5	T	C	13: 93,230,066 (GRCm39)	Q1674R	probably benign	Het
Cnnm1	T	A	19: 43,430,325 (GRCm39)	V481D	probably damaging	Het
Cracdl	T	C	1: 37,664,381 (GRCm39)	M506V	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dnah7b	A	G	1: 46,234,447 (GRCm39)	T1460A	probably damaging	Het
Dnah8	G	A	17: 30,994,019 (GRCm39)	D3379N	probably benign	Het
Dnajc4	C	T	19: 6,968,111 (GRCm39)	R55H	probably damaging	Het
Ebf4	C	T	2: 130,148,482 (GRCm39)	R98*	probably null	Het
Epha4	G	A	1: 77,488,339 (GRCm39)	A47V	possibly damaging	Het
Ercc8	T	C	13: 108,320,251 (GRCm39)		probably benign	Het
Exo1	T	C	1: 175,733,399 (GRCm39)	F75S	probably damaging	Het
Fam168a	G	T	7: 100,483,391 (GRCm39)		probably null	Het
Fat3	G	A	9: 15,836,310 (GRCm39)	R4065W	possibly damaging	Het
Gm5431	T	A	11: 48,779,536 (GRCm39)	N740I	probably benign	Het
Gm5900	T	A	7: 104,599,571 (GRCm39)		noncoding transcript	Het
Gpi1	A	G	7: 33,905,348 (GRCm39)	S359P	probably damaging	Het
Gpr156	A	G	16: 37,768,149 (GRCm39)	R22G	probably benign	Het
Greb1	A	G	12: 16,774,923 (GRCm39)	V158A	probably damaging	Het
Grin2c	T	A	11: 115,141,894 (GRCm39)	K842*	probably null	Het
Gsta5	T	A	9: 78,202,089 (GRCm39)	M1K	probably null	Het
Hnf4a	T	A	2: 163,408,161 (GRCm39)	L329Q	probably damaging	Het
Hsp90ab1	A	G	17: 45,880,267 (GRCm39)	L92P	probably damaging	Het
Ido1	T	A	8: 25,074,501 (GRCm39)	R290*	probably null	Het
Ifnlr1	G	T	4: 135,432,559 (GRCm39)	D332Y	probably damaging	Het
Ift172	T	C	5: 31,420,312 (GRCm39)	N1108S	probably benign	Het
Igkv3-9	T	A	6: 70,565,728 (GRCm39)	M109K	probably benign	Het
Igsf10	T	C	3: 59,239,287 (GRCm39)	D298G	probably damaging	Het
Iqck	T	G	7: 118,475,505 (GRCm39)	M98R	probably benign	Het
Klk1b1	T	C	7: 43,618,803 (GRCm39)	V60A	probably damaging	Het
Krtap1-3	C	T	11: 99,481,653 (GRCm39)	E165K	unknown	Het
Lair1	A	G	7: 4,013,782 (GRCm39)	L155P	probably damaging	Het
Maco1	A	G	4: 134,531,699 (GRCm39)	S657P	probably damaging	Het
Mast4	G	T	13: 102,990,350 (GRCm39)	S57Y	probably damaging	Het
Mical3	T	C	6: 121,011,118 (GRCm39)	H360R	probably damaging	Het
Muc5b	A	T	7: 141,412,798 (GRCm39)	N1915Y	unknown	Het
Myh1	A	G	11: 67,096,423 (GRCm39)	I301V	probably benign	Het
Nck2	T	A	1: 43,593,393 (GRCm39)	V200E	probably damaging	Het
Odad4	T	G	11: 100,444,361 (GRCm39)	L222R	probably damaging	Het
Or2y1b	T	G	11: 49,209,048 (GRCm39)	L225R	probably damaging	Het
Or4b12	T	C	2: 90,096,030 (GRCm39)	Y248C	possibly damaging	Het
Or4c109	T	G	2: 88,817,775 (GRCm39)	Y257S	probably damaging	Het
Or4f60	T	A	2: 111,902,837 (GRCm39)	L30F	probably benign	Het
Or4k38	C	T	2: 111,166,076 (GRCm39)	V116I	probably damaging	Het
Or52n2c	G	A	7: 104,574,894 (GRCm39)	H26Y	probably benign	Het
Or5b101	T	A	19: 13,005,058 (GRCm39)	I212F	probably damaging	Het
Or8b12i	A	G	9: 20,082,525 (GRCm39)	L114P	probably damaging	Het
Otoa	C	T	7: 120,759,695 (GRCm39)	T1099I	probably benign	Het
Pask	T	A	1: 93,258,485 (GRCm39)	I288F	possibly damaging	Het
Pcnx4	T	C	12: 72,613,746 (GRCm39)	W564R	probably damaging	Het
Pip4p1	A	T	14: 51,167,115 (GRCm39)	Y129*	probably null	Het
Pitpnm2	T	C	5: 124,274,389 (GRCm39)	E240G	probably damaging	Het
Ppp1r16b	A	G	2: 158,603,383 (GRCm39)	Y436C	possibly damaging	Het
Pramel27	G	A	4: 143,578,561 (GRCm39)	V274I	probably benign	Het
Prkca	T	C	11: 107,870,032 (GRCm39)	Y37C	probably damaging	Het
Rad18	T	G	6: 112,652,883 (GRCm39)	H238P	possibly damaging	Het
Rap1b	T	A	10: 117,654,444 (GRCm39)	Q1L	probably damaging	Het
Rgs9	T	C	11: 109,159,798 (GRCm39)	Y178C	probably benign	Het
Rpl3l	A	T	17: 24,951,360 (GRCm39)	D87V	possibly damaging	Het
Scrn2	T	C	11: 96,923,992 (GRCm39)	V292A	possibly damaging	Het
Sdad1	A	G	5: 92,453,684 (GRCm39)	Y35H	probably benign	Het
Sez6l2	T	C	7: 126,552,944 (GRCm39)	S177P	probably benign	Het
Sh3bp1	C	T	15: 78,795,706 (GRCm39)	P612S	probably damaging	Het
Shank1	T	C	7: 44,001,148 (GRCm39)	S956P	unknown	Het
Shank1	G	A	7: 44,001,547 (GRCm39)	A1089T	unknown	Het
Shprh	G	A	10: 11,042,468 (GRCm39)	C817Y	probably damaging	Het
Spata22	C	T	11: 73,236,593 (GRCm39)	P300S	probably damaging	Het
Sstr2	A	T	11: 113,515,749 (GRCm39)	I223F	probably damaging	Het
Stom	C	T	2: 35,210,354 (GRCm39)	A217T	probably damaging	Het
Stpg1	T	C	4: 135,263,960 (GRCm39)	V341A	probably benign	Het
Tagap	A	G	17: 8,147,586 (GRCm39)	T99A	probably benign	Het
Tas1r2	A	G	4: 139,387,162 (GRCm39)	N207S	probably damaging	Het
Thbs2	A	G	17: 14,906,105 (GRCm39)	V265A	probably benign	Het
Thyn1	A	G	9: 26,911,316 (GRCm39)	R3G	possibly damaging	Het
Tia1	T	A	6: 86,401,312 (GRCm39)		probably null	Het
Tktl2	A	G	8: 66,965,504 (GRCm39)	E354G	probably benign	Het
Tmc8	A	G	11: 117,683,511 (GRCm39)	T689A	possibly damaging	Het
Tmem11	A	T	11: 60,755,807 (GRCm39)		probably null	Het
Tnik	T	C	3: 28,722,064 (GRCm39)	V1310A	probably damaging	Het
Trappc10	A	G	10: 78,047,357 (GRCm39)	S380P	possibly damaging	Het
Trim8	C	T	19: 46,503,734 (GRCm39)	P429S	probably benign	Het
Ttn	C	A	2: 76,687,756 (GRCm39)		probably benign	Het
Ulk2	T	C	11: 61,678,340 (GRCm39)	Y793C	probably benign	Het
Vill	G	A	9: 118,899,370 (GRCm39)	V337M	possibly damaging	Het
Vps53	C	A	11: 75,957,661 (GRCm39)	V364F	possibly damaging	Het
Zan	A	T	5: 137,454,848 (GRCm39)	I1396N	unknown	Het
Zfa-ps	A	C	10: 52,420,339 (GRCm39)		noncoding transcript	Het
Zfp426	T	C	9: 20,381,977 (GRCm39)	T337A	possibly damaging	Het
Zfp536	T	C	7: 37,267,403 (GRCm39)	E671G	possibly damaging	Het
Zfp985	A	G	4: 147,667,443 (GRCm39)	T104A	possibly damaging	Het

Other mutations in Cyp2c50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Cyp2c50	APN	19	40,080,728 (GRCm39)	missense	probably benign	0.12
IGL01463:Cyp2c50	APN	19	40,079,422 (GRCm39)	missense	probably damaging	1.00
IGL01669:Cyp2c50	APN	19	40,086,495 (GRCm39)	missense	probably damaging	1.00
IGL02008:Cyp2c50	APN	19	40,079,543 (GRCm39)	nonsense	probably null
IGL02331:Cyp2c50	APN	19	40,079,387 (GRCm39)	critical splice acceptor site	probably null
IGL02830:Cyp2c50	APN	19	40,086,500 (GRCm39)	missense	probably benign	0.00
R0115:Cyp2c50	UTSW	19	40,080,837 (GRCm39)	splice site	probably benign
R1666:Cyp2c50	UTSW	19	40,079,499 (GRCm39)	missense	probably benign
R1668:Cyp2c50	UTSW	19	40,079,499 (GRCm39)	missense	probably benign
R1679:Cyp2c50	UTSW	19	40,099,859 (GRCm39)	missense	possibly damaging	0.93
R2425:Cyp2c50	UTSW	19	40,078,292 (GRCm39)	missense	probably benign	0.20
R2570:Cyp2c50	UTSW	19	40,078,764 (GRCm39)	missense	probably benign	0.01
R3040:Cyp2c50	UTSW	19	40,086,570 (GRCm39)	missense	probably benign	0.02
R3983:Cyp2c50	UTSW	19	40,101,962 (GRCm39)	missense	possibly damaging	0.64
R4425:Cyp2c50	UTSW	19	40,079,136 (GRCm39)	missense	possibly damaging	0.94
R4484:Cyp2c50	UTSW	19	40,079,083 (GRCm39)	missense	probably damaging	1.00
R4520:Cyp2c50	UTSW	19	40,079,133 (GRCm39)	missense	probably benign	0.02
R4820:Cyp2c50	UTSW	19	40,102,024 (GRCm39)	missense	probably damaging	1.00
R4978:Cyp2c50	UTSW	19	40,086,501 (GRCm39)	missense	probably damaging	1.00
R5335:Cyp2c50	UTSW	19	40,079,060 (GRCm39)	missense	probably benign	0.00
R5807:Cyp2c50	UTSW	19	40,101,944 (GRCm39)	missense	probably damaging	1.00
R5955:Cyp2c50	UTSW	19	40,079,387 (GRCm39)	critical splice acceptor site	probably null
R6553:Cyp2c50	UTSW	19	40,079,046 (GRCm39)	missense	probably benign	0.41
R6560:Cyp2c50	UTSW	19	40,085,299 (GRCm39)	missense	probably benign	0.03
R7241:Cyp2c50	UTSW	19	40,079,012 (GRCm39)	missense	probably benign
R7389:Cyp2c50	UTSW	19	40,079,107 (GRCm39)	missense	probably benign	0.01
R7511:Cyp2c50	UTSW	19	40,080,634 (GRCm39)	splice site	probably null
R9327:Cyp2c50	UTSW	19	40,079,010 (GRCm39)	missense	probably benign	0.01
R9643:Cyp2c50	UTSW	19	40,086,512 (GRCm39)	missense	probably damaging	1.00
RF008:Cyp2c50	UTSW	19	40,078,268 (GRCm39)	missense	probably damaging	0.98
Z1088:Cyp2c50	UTSW	19	40,086,399 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- GGAAGCTCTGGTTGACCATG -3'
(R):5'- TCACTCATACTGCCATACCTAGATC -3'

Sequencing Primer
(F):5'- GGAAGGCTCCCAGTTTTTGATAAAGC -3'
(R):5'- CAACGTGCTTCCTCTTGAA -3'

Posted On

2014-12-04