Mutagenetix > Incidental Mutation

Incidental Mutation 'R1531:Cyp2c29'

166260

Institutional Source

Beutler Lab

Gene Symbol

Cyp2c29

Ensembl Gene

ENSMUSG00000003053

Gene Name

cytochrome P450, family 2, subfamily c, polypeptide 29

Synonyms

AHOHase, Ahh-1, Ah-2, P450-2C, Cyp2c, AHOH

MMRRC Submission

039570-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R1531 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39275541-39319157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39313412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 303 (R303G)

Ref Sequence

ENSEMBL: ENSMUSP00000135863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003137] [ENSMUST00000176624] [ENSMUST00000177087]

AlphaFold

Q64458

Predicted Effect

probably damaging
Transcript: ENSMUST00000003137
AA Change: R342G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003137
Gene: ENSMUSG00000003053
AA Change: R342G

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:p450	30	487	5.4e-165	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000176624
AA Change: R303G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135863
Gene: ENSMUSG00000003053
AA Change: R303G

Domain	Start	End	E-Value	Type
Pfam:p450	12	448	2.7e-156	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177087

SMART Domains

Protein: ENSMUSP00000135839
Gene: ENSMUSG00000003053

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
Pfam:p450	30	118	8.4e-22	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	A	13: 59,648,448 (GRCm39)		probably null	Het
Aldh3b2	T	G	19: 4,027,543 (GRCm39)	F28C	probably damaging	Het
Apaf1	T	C	10: 90,890,383 (GRCm39)	N540S	probably damaging	Het
Apob	T	C	12: 8,047,880 (GRCm39)	I953T	possibly damaging	Het
Arhgef1	A	G	7: 24,624,423 (GRCm39)	T816A	probably damaging	Het
Arid4a	T	A	12: 71,122,779 (GRCm39)	F1053L	probably benign	Het
Atxn1l	A	C	8: 110,458,691 (GRCm39)	F524V	probably damaging	Het
Cad	T	A	5: 31,233,563 (GRCm39)	M1874K	probably benign	Het
Ccdc40	G	A	11: 119,154,015 (GRCm39)	V1096I	probably benign	Het
Ccdc93	A	G	1: 121,408,551 (GRCm39)	D358G	probably benign	Het
Cd96	T	C	16: 45,938,169 (GRCm39)	T99A	probably benign	Het
Cdc42ep3	A	T	17: 79,642,473 (GRCm39)	M149K	probably benign	Het
Cgas	A	G	9: 78,349,763 (GRCm39)	Y200H	probably damaging	Het
Cog4	A	G	8: 111,606,353 (GRCm39)	E613G	probably benign	Het
Crebbp	A	T	16: 3,902,381 (GRCm39)	I2286N	probably benign	Het
Csf1	T	C	3: 107,655,654 (GRCm39)	E459G	possibly damaging	Het
Csrp2	A	T	10: 110,771,066 (GRCm39)	Y57F	probably benign	Het
Ctdspl	C	T	9: 118,869,650 (GRCm39)	P244L	probably damaging	Het
Cyp4a10	C	A	4: 115,375,632 (GRCm39)	Y38*	probably null	Het
Dmgdh	T	A	13: 93,880,919 (GRCm39)	I783N	probably damaging	Het
Efcc1	G	A	6: 87,708,148 (GRCm39)	E92K	probably benign	Het
Eif2ak4	T	A	2: 118,273,691 (GRCm39)	L872H	probably damaging	Het
Elp2	T	A	18: 24,764,461 (GRCm39)	S603T	probably benign	Het
Eml2	T	A	7: 18,930,179 (GRCm39)	L300H	probably damaging	Het
Esp3	A	G	17: 40,946,827 (GRCm39)	K50R	possibly damaging	Het
Esrp1	A	G	4: 11,379,375 (GRCm39)	F136L	probably damaging	Het
Exoc1	T	A	5: 76,707,011 (GRCm39)	D497E	probably damaging	Het
Fat3	A	G	9: 15,908,761 (GRCm39)	S2414P	probably damaging	Het
Foxj3	C	T	4: 119,477,398 (GRCm39)	P369S	unknown	Het
Gkn2	G	T	6: 87,352,921 (GRCm39)		probably null	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,649,766 (GRCm39)		noncoding transcript	Het
Gm21905	A	T	5: 68,103,724 (GRCm39)		probably benign	Het
Grhl1	T	A	12: 24,632,962 (GRCm39)		probably null	Het
Grk6	A	G	13: 55,599,967 (GRCm39)	Y221C	probably damaging	Het
Hcrtr1	T	A	4: 130,024,720 (GRCm39)	K389*	probably null	Het
Hk1	G	A	10: 62,120,563 (GRCm39)	R545C	probably damaging	Het
Hsp90b1	A	T	10: 86,532,659 (GRCm39)	I339N	probably benign	Het
Ikzf3	T	C	11: 98,381,272 (GRCm39)	R103G	probably damaging	Het
Itgad	A	C	7: 127,777,542 (GRCm39)	I141L	probably benign	Het
Jmjd6	T	A	11: 116,733,266 (GRCm39)	Y137F	probably benign	Het
Kcna1	A	G	6: 126,619,030 (GRCm39)	V430A	probably benign	Het
Kel	A	G	6: 41,665,560 (GRCm39)	V520A	probably damaging	Het
Klhl41	G	A	2: 69,501,084 (GRCm39)	V182I	probably benign	Het
Ldhb	C	A	6: 142,447,121 (GRCm39)	M64I	probably benign	Het
Lrrc23	A	G	6: 124,753,077 (GRCm39)	S190P	possibly damaging	Het
Mboat2	T	C	12: 25,009,029 (GRCm39)	V445A	probably benign	Het
Mlycd	G	A	8: 120,128,258 (GRCm39)	W188*	probably null	Het
Mpp3	C	T	11: 101,899,475 (GRCm39)	E349K	probably benign	Het
Mtres1	A	G	10: 43,401,316 (GRCm39)	V211A	probably benign	Het
Myh4	A	G	11: 67,141,366 (GRCm39)	M780V	probably benign	Het
Myh6	G	A	14: 55,193,963 (GRCm39)	R809C	probably damaging	Het
Mylip	G	A	13: 45,560,046 (GRCm39)	V161M	possibly damaging	Het
Nrp1	G	A	8: 129,152,450 (GRCm39)	V220I	probably null	Het
Nup210	A	T	6: 91,011,823 (GRCm39)	N455K	probably benign	Het
Or14j10	A	T	17: 37,935,243 (GRCm39)	Y94*	probably null	Het
Or51f1d	C	A	7: 102,700,795 (GRCm39)	Q97K	probably benign	Het
Pbld2	G	T	10: 62,889,732 (GRCm39)		probably null	Het
Pclo	C	G	5: 14,571,917 (GRCm39)	P434R	probably damaging	Het
Pdlim3	A	G	8: 46,349,800 (GRCm39)	K37E	probably damaging	Het
Prkdc	T	A	16: 15,589,970 (GRCm39)	I2611N	probably benign	Het
Prr12	T	C	7: 44,677,954 (GRCm39)	D2019G	unknown	Het
Rab27a	A	G	9: 73,002,685 (GRCm39)	T205A	probably benign	Het
Rcan3	A	G	4: 135,152,595 (GRCm39)	L42P	probably damaging	Het
Rchy1	T	C	5: 92,103,474 (GRCm39)		probably null	Het
Sema6a	T	C	18: 47,382,066 (GRCm39)	H827R	probably damaging	Het
Sertad4	A	G	1: 192,533,258 (GRCm39)		probably null	Het
Smarcd1	T	A	15: 99,605,264 (GRCm39)	C282S	probably damaging	Het
Speg	A	G	1: 75,377,866 (GRCm39)	T769A	possibly damaging	Het
Syne1	T	A	10: 5,297,875 (GRCm39)	K1141*	probably null	Het
Synpo2	T	C	3: 122,911,315 (GRCm39)	E110G	probably benign	Het
Tg	T	A	15: 66,722,351 (GRCm39)	D333E	probably benign	Het
Tmem132c	A	G	5: 127,436,955 (GRCm39)	Y148C	probably damaging	Het
Tmem215	T	A	4: 40,473,965 (GRCm39)	V14E	probably damaging	Het
Tmem229b	A	G	12: 79,011,685 (GRCm39)	L82P	probably damaging	Het
Togaram1	A	G	12: 65,013,039 (GRCm39)	T97A	probably benign	Het
Trappc9	G	A	15: 72,565,397 (GRCm39)	R965*	probably null	Het
Trio	T	C	15: 27,833,071 (GRCm39)	I104V	probably benign	Het
Trp73	A	G	4: 154,148,352 (GRCm39)	F354S	probably benign	Het
Ttyh2	T	C	11: 114,577,278 (GRCm39)	L63P	probably damaging	Het
Ulk4	G	C	9: 120,873,841 (GRCm39)	P1197A	probably damaging	Het
Vmn1r176	T	C	7: 23,534,536 (GRCm39)	M206V	possibly damaging	Het
Vps8	T	A	16: 21,285,226 (GRCm39)	Y402*	probably null	Het
Zbtb41	A	G	1: 139,350,931 (GRCm39)	I15V	probably benign	Het
Zc3hav1	T	C	6: 38,284,170 (GRCm39)	I982V	possibly damaging	Het
Zmynd19	T	A	2: 24,848,123 (GRCm39)	N106K	probably benign	Het

Other mutations in Cyp2c29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Cyp2c29	APN	19	39,310,143 (GRCm39)	splice site	probably benign
IGL00482:Cyp2c29	APN	19	39,313,467 (GRCm39)	missense	probably damaging	0.97
IGL00694:Cyp2c29	APN	19	39,310,079 (GRCm39)	missense	possibly damaging	0.64
IGL00836:Cyp2c29	APN	19	39,313,434 (GRCm39)	missense	probably damaging	0.98
IGL00858:Cyp2c29	APN	19	39,296,100 (GRCm39)	missense	probably damaging	1.00
IGL01350:Cyp2c29	APN	19	39,318,771 (GRCm39)	missense	probably damaging	1.00
IGL01455:Cyp2c29	APN	19	39,317,561 (GRCm39)	missense	possibly damaging	0.89
IGL01718:Cyp2c29	APN	19	39,318,704 (GRCm39)	missense	possibly damaging	0.48
IGL01977:Cyp2c29	APN	19	39,279,341 (GRCm39)	splice site	probably benign
IGL01991:Cyp2c29	APN	19	39,318,759 (GRCm39)	missense	probably damaging	1.00
IGL02097:Cyp2c29	APN	19	39,296,064 (GRCm39)	missense	probably damaging	1.00
IGL02267:Cyp2c29	APN	19	39,318,866 (GRCm39)	missense	probably benign	0.19
IGL02451:Cyp2c29	APN	19	39,279,291 (GRCm39)	missense	possibly damaging	0.66
IGL02452:Cyp2c29	APN	19	39,279,291 (GRCm39)	missense	possibly damaging	0.66
IGL02548:Cyp2c29	APN	19	39,279,291 (GRCm39)	missense	possibly damaging	0.66
IGL02549:Cyp2c29	APN	19	39,298,229 (GRCm39)	missense	possibly damaging	0.48
IGL02938:Cyp2c29	APN	19	39,275,567 (GRCm39)	missense	probably damaging	0.99
IGL03252:Cyp2c29	APN	19	39,275,619 (GRCm39)	missense	probably damaging	1.00
IGL03367:Cyp2c29	APN	19	39,317,659 (GRCm39)	missense	probably damaging	0.97
H8562:Cyp2c29	UTSW	19	39,298,106 (GRCm39)	missense	probably damaging	1.00
IGL03052:Cyp2c29	UTSW	19	39,275,662 (GRCm39)	missense	possibly damaging	0.90
R0415:Cyp2c29	UTSW	19	39,317,539 (GRCm39)	splice site	probably benign
R0504:Cyp2c29	UTSW	19	39,298,224 (GRCm39)	missense	probably benign	0.29
R0690:Cyp2c29	UTSW	19	39,298,170 (GRCm39)	missense	probably benign	0.00
R1730:Cyp2c29	UTSW	19	39,313,389 (GRCm39)	missense	possibly damaging	0.79
R1981:Cyp2c29	UTSW	19	39,296,216 (GRCm39)	splice site	probably null
R2113:Cyp2c29	UTSW	19	39,318,708 (GRCm39)	missense	probably damaging	1.00
R2220:Cyp2c29	UTSW	19	39,275,676 (GRCm39)	missense	probably benign	0.09
R3873:Cyp2c29	UTSW	19	39,317,588 (GRCm39)	missense	probably damaging	0.99
R4424:Cyp2c29	UTSW	19	39,275,620 (GRCm39)	missense	probably damaging	0.98
R4451:Cyp2c29	UTSW	19	39,279,270 (GRCm39)	missense	probably damaging	0.99
R4803:Cyp2c29	UTSW	19	39,313,439 (GRCm39)	missense	probably benign	0.01
R5288:Cyp2c29	UTSW	19	39,318,816 (GRCm39)	missense	probably damaging	0.96
R5474:Cyp2c29	UTSW	19	39,313,436 (GRCm39)	missense	probably damaging	1.00
R5475:Cyp2c29	UTSW	19	39,318,731 (GRCm39)	missense	possibly damaging	0.91
R5893:Cyp2c29	UTSW	19	39,318,833 (GRCm39)	missense	possibly damaging	0.93
R5894:Cyp2c29	UTSW	19	39,318,833 (GRCm39)	missense	possibly damaging	0.93
R6000:Cyp2c29	UTSW	19	39,296,050 (GRCm39)	critical splice acceptor site	probably null
R6144:Cyp2c29	UTSW	19	39,310,053 (GRCm39)	missense	possibly damaging	0.96
R6296:Cyp2c29	UTSW	19	39,318,705 (GRCm39)	missense	possibly damaging	0.64
R6365:Cyp2c29	UTSW	19	39,296,198 (GRCm39)	missense	probably damaging	1.00
R6449:Cyp2c29	UTSW	19	39,279,311 (GRCm39)	missense	probably benign	0.05
R6464:Cyp2c29	UTSW	19	39,317,669 (GRCm39)	missense	probably damaging	0.96
R6919:Cyp2c29	UTSW	19	39,279,585 (GRCm39)	missense	probably benign	0.26
R6978:Cyp2c29	UTSW	19	39,310,107 (GRCm39)	missense	probably damaging	1.00
R7038:Cyp2c29	UTSW	19	39,275,571 (GRCm39)	missense	probably benign	0.01
R7040:Cyp2c29	UTSW	19	39,318,781 (GRCm39)	missense	possibly damaging	0.95
R7391:Cyp2c29	UTSW	19	39,296,211 (GRCm39)	missense	probably null	0.98
R8712:Cyp2c29	UTSW	19	39,310,138 (GRCm39)	critical splice donor site	probably benign
R8863:Cyp2c29	UTSW	19	39,261,810 (GRCm39)	missense	probably benign	0.00
R9468:Cyp2c29	UTSW	19	39,296,166 (GRCm39)	missense	probably benign	0.07
X0024:Cyp2c29	UTSW	19	39,310,043 (GRCm39)	missense	probably benign	0.01
Z1176:Cyp2c29	UTSW	19	39,313,441 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGCTAGGTCTTTGAGAGAAGGGCAG -3'
(R):5'- TGAATGTGCGAGCACCAAGAGC -3'

Sequencing Primer
(F):5'- ATGTAGAAGGAATGTGATTTAACCC -3'
(R):5'- caacaacaaaaacaacaaaacaaaac -3'

Posted On

2014-04-13