Mutagenetix > Incidental Mutation

Incidental Mutation 'R0452:Cyp2b19'

39685

Institutional Source

Beutler Lab

Gene Symbol

Cyp2b19

Ensembl Gene

ENSMUSG00000066704

Gene Name

cytochrome P450, family 2, subfamily b, polypeptide 19

Synonyms

MMRRC Submission

038652-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26757142-26772630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 26766762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 330 (D330A)

Ref Sequence

ENSEMBL: ENSMUSP00000077021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077855]

AlphaFold

O55071

Predicted Effect

probably benign
Transcript: ENSMUST00000077855
AA Change: D330A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000077021
Gene: ENSMUSG00000066704
AA Change: D330A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:p450	32	489	8.7e-151	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138018

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 106,507,190 (GRCm38)		probably benign	Het
Acap3	C	A	4: 155,902,328 (GRCm38)	S347*	probably null	Het
Acvr1	G	A	2: 58,500,495 (GRCm38)	P19L	probably benign	Het
Add2	G	T	6: 86,104,629 (GRCm38)	E366*	probably null	Het
Ankrd28	C	A	14: 31,748,738 (GRCm38)	A153S	probably damaging	Het
Anxa8	A	T	14: 34,094,770 (GRCm38)	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,732,322 (GRCm38)	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,689,105 (GRCm38)	A1120T	unknown	Het
Atad5	T	C	11: 80,106,421 (GRCm38)	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,977,232 (GRCm38)		probably null	Het
Atxn1l	C	T	8: 109,732,395 (GRCm38)	V412I	possibly damaging	Het
Card11	A	G	5: 140,880,370 (GRCm38)	S923P	probably benign	Het
Cars1	C	A	7: 143,592,625 (GRCm38)	E21*	probably null	Het
Ccdc115	A	G	1: 34,437,621 (GRCm38)		probably benign	Het
Ccnj	T	A	19: 40,845,064 (GRCm38)		probably null	Het
Cds2	C	T	2: 132,298,479 (GRCm38)	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,815,323 (GRCm38)	H213R	probably benign	Het
Cfap44	A	T	16: 44,431,945 (GRCm38)	M806L	probably benign	Het
Chd8	A	T	14: 52,214,587 (GRCm38)	I1317K	probably damaging	Het
Cherp	A	T	8: 72,461,522 (GRCm38)		probably benign	Het
Creb5	C	G	6: 53,604,542 (GRCm38)	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,226,895 (GRCm38)	M94T	probably benign	Het
Ddost	G	A	4: 138,310,188 (GRCm38)	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,605,819 (GRCm38)	D1019E	probably benign	Het
Dtx1	A	T	5: 120,694,992 (GRCm38)	I127N	possibly damaging	Het
Dyrk2	T	C	10: 118,868,763 (GRCm38)	T3A	possibly damaging	Het
Elovl5	C	T	9: 77,960,911 (GRCm38)	T35M	probably damaging	Het
Emc7	T	C	2: 112,466,969 (GRCm38)		probably benign	Het
Erp27	T	C	6: 136,909,489 (GRCm38)	Y182C	probably damaging	Het
Exoc2	T	A	13: 30,886,327 (GRCm38)		probably benign	Het
F5	A	C	1: 164,185,107 (GRCm38)	D530A	probably damaging	Het
Fam149a	A	T	8: 45,355,649 (GRCm38)	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,478,182 (GRCm38)	S614P	probably damaging	Het
Fmn1	T	A	2: 113,636,779 (GRCm38)	Y1342N	possibly damaging	Het
Gpr22	T	A	12: 31,708,794 (GRCm38)	D443V	possibly damaging	Het
Il17rd	T	A	14: 27,091,931 (GRCm38)	W56R	probably damaging	Het
Itga2b	A	T	11: 102,465,953 (GRCm38)		probably null	Het
Jmjd1c	T	C	10: 67,255,482 (GRCm38)	M2514T	probably benign	Het
Klk1b9	T	C	7: 43,794,251 (GRCm38)		probably benign	Het
Krr1	T	C	10: 111,975,598 (GRCm38)	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,486,354 (GRCm38)		probably benign	Het
Lgals3bp	A	T	11: 118,393,464 (GRCm38)	Y430N	probably benign	Het
Lrp10	T	C	14: 54,467,579 (GRCm38)	V113A	probably benign	Het
Mgam	A	G	6: 40,759,090 (GRCm38)	Y841C	probably damaging	Het
Nisch	T	A	14: 31,177,464 (GRCm38)		probably benign	Het
Nlrp4d	G	A	7: 10,378,292 (GRCm38)	T650I	probably benign	Het
Or4f61	T	A	2: 112,092,636 (GRCm38)	K22*	probably null	Het
Or5p78	C	T	7: 108,612,370 (GRCm38)	T21I	possibly damaging	Het
Parp4	A	G	14: 56,648,843 (GRCm38)	D1793G	unknown	Het
Pcm1	A	G	8: 41,325,905 (GRCm38)	D1850G	probably benign	Het
Pgap2	G	A	7: 102,236,462 (GRCm38)	A145T	probably damaging	Het
Phc1	G	A	6: 122,323,036 (GRCm38)	A583V	probably damaging	Het
Plcd3	G	A	11: 103,071,259 (GRCm38)		probably benign	Het
Ppm1m	T	A	9: 106,197,302 (GRCm38)	Q214L	probably damaging	Het
Prkg2	A	G	5: 98,997,520 (GRCm38)		probably benign	Het
Prss3l	A	G	6: 41,445,337 (GRCm38)	Y45H	probably benign	Het
Rasal3	T	C	17: 32,395,817 (GRCm38)		probably benign	Het
Rfc1	A	T	5: 65,264,297 (GRCm38)	D1086E	probably benign	Het
Rnf145	T	A	11: 44,561,760 (GRCm38)	L522H	probably damaging	Het
Setd2	T	A	9: 110,553,100 (GRCm38)		probably null	Het
Sik1	C	A	17: 31,849,081 (GRCm38)	V377F	possibly damaging	Het
Slc44a4	T	C	17: 34,928,095 (GRCm38)	I367T	possibly damaging	Het
Slfn3	A	G	11: 83,213,128 (GRCm38)	D275G	possibly damaging	Het
Smarcad1	A	T	6: 65,074,822 (GRCm38)	N313I	possibly damaging	Het
Smc4	A	T	3: 69,008,028 (GRCm38)	K138*	probably null	Het
Smg6	T	A	11: 74,930,213 (GRCm38)	S437T	probably benign	Het
Spaca9	G	T	2: 28,695,993 (GRCm38)	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,268,293 (GRCm38)	I41S	probably damaging	Het
Spink5	A	T	18: 43,963,318 (GRCm38)	T5S	possibly damaging	Het
St3gal1	C	A	15: 67,109,655 (GRCm38)		probably benign	Het
Stat5a	C	A	11: 100,863,135 (GRCm38)	T97K	probably benign	Het
Stat5b	A	T	11: 100,798,330 (GRCm38)	I246N	probably benign	Het
Supt6	G	T	11: 78,227,003 (GRCm38)	D462E	probably damaging	Het
Swi5	A	T	2: 32,281,824 (GRCm38)		probably benign	Het
Syne1	A	T	10: 5,405,435 (GRCm38)	V375E	probably damaging	Het
Tcp1	T	C	17: 12,924,352 (GRCm38)	F516S	probably benign	Het
Tdrd7	A	T	4: 45,965,488 (GRCm38)		probably benign	Het
Tgfbr3	A	T	5: 107,140,423 (GRCm38)	N457K	probably benign	Het
Tmem209	A	G	6: 30,487,381 (GRCm38)	M500T	probably damaging	Het
Tmem44	C	T	16: 30,517,463 (GRCm38)		probably benign	Het
Ttc21a	T	A	9: 119,939,154 (GRCm38)		probably benign	Het
Ttn	A	G	2: 76,871,110 (GRCm38)		probably benign	Het
Ttn	T	A	2: 76,836,003 (GRCm38)	I88F	possibly damaging	Het
Ube2w	T	C	1: 16,602,255 (GRCm38)		probably benign	Het
Ufc1	C	T	1: 171,289,954 (GRCm38)		probably benign	Het
Uhmk1	A	G	1: 170,212,402 (GRCm38)	M132T	possibly damaging	Het
Usp29	A	G	7: 6,963,182 (GRCm38)	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,926,484 (GRCm38)	V103A	possibly damaging	Het
Wdr59	G	T	8: 111,521,972 (GRCm38)	R4S	possibly damaging	Het
Zc3hav1	T	A	6: 38,307,437 (GRCm38)	E914D	probably benign	Het

Other mutations in Cyp2b19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Cyp2b19	APN	7	26,763,461 (GRCm38)	missense	possibly damaging	0.91
IGL01338:Cyp2b19	APN	7	26,759,417 (GRCm38)	missense	probably benign	0.09
IGL01374:Cyp2b19	APN	7	26,759,079 (GRCm38)	missense	probably benign	0.06
IGL01613:Cyp2b19	APN	7	26,763,461 (GRCm38)	missense	possibly damaging	0.91
IGL01695:Cyp2b19	APN	7	26,759,064 (GRCm38)	missense	probably damaging	1.00
IGL02322:Cyp2b19	APN	7	26,762,378 (GRCm38)	missense	possibly damaging	0.79
IGL03077:Cyp2b19	APN	7	26,762,384 (GRCm38)	missense	probably benign
R0047:Cyp2b19	UTSW	7	26,766,826 (GRCm38)	missense	probably benign	0.01
R0047:Cyp2b19	UTSW	7	26,766,826 (GRCm38)	missense	probably benign	0.01
R0865:Cyp2b19	UTSW	7	26,762,229 (GRCm38)	splice site	probably benign
R1514:Cyp2b19	UTSW	7	26,767,160 (GRCm38)	missense	probably benign	0.00
R1681:Cyp2b19	UTSW	7	26,763,340 (GRCm38)	splice site	probably null
R2362:Cyp2b19	UTSW	7	26,764,377 (GRCm38)	missense	probably damaging	1.00
R4015:Cyp2b19	UTSW	7	26,762,343 (GRCm38)	missense	probably damaging	1.00
R4259:Cyp2b19	UTSW	7	26,763,382 (GRCm38)	missense	probably damaging	1.00
R4592:Cyp2b19	UTSW	7	26,771,394 (GRCm38)	missense	probably benign	0.04
R4705:Cyp2b19	UTSW	7	26,757,292 (GRCm38)	missense	probably benign	0.03
R4789:Cyp2b19	UTSW	7	26,764,376 (GRCm38)	missense	probably benign	0.16
R5481:Cyp2b19	UTSW	7	26,766,821 (GRCm38)	missense	probably damaging	0.99
R5749:Cyp2b19	UTSW	7	26,763,419 (GRCm38)	missense	possibly damaging	0.84
R6041:Cyp2b19	UTSW	7	26,759,427 (GRCm38)	missense	probably damaging	1.00
R6170:Cyp2b19	UTSW	7	26,759,094 (GRCm38)	missense	possibly damaging	0.80
R6259:Cyp2b19	UTSW	7	26,771,392 (GRCm38)	missense	possibly damaging	0.91
R6370:Cyp2b19	UTSW	7	26,763,358 (GRCm38)	missense	probably benign	0.07
R6519:Cyp2b19	UTSW	7	26,759,111 (GRCm38)	missense	probably benign
R6656:Cyp2b19	UTSW	7	26,766,855 (GRCm38)	missense	probably benign
R7283:Cyp2b19	UTSW	7	26,766,914 (GRCm38)	missense	probably damaging	1.00
R7583:Cyp2b19	UTSW	7	26,759,064 (GRCm38)	missense	probably damaging	1.00
R7686:Cyp2b19	UTSW	7	26,762,343 (GRCm38)	missense	probably damaging	1.00
R7732:Cyp2b19	UTSW	7	26,771,344 (GRCm38)	missense	possibly damaging	0.67
R7831:Cyp2b19	UTSW	7	26,767,140 (GRCm38)	missense	possibly damaging	0.80
R8035:Cyp2b19	UTSW	7	26,771,250 (GRCm38)	missense	probably damaging	1.00
R8853:Cyp2b19	UTSW	7	26,757,220 (GRCm38)	missense	possibly damaging	0.53
R9574:Cyp2b19	UTSW	7	26,766,928 (GRCm38)	missense	probably null	1.00
R9574:Cyp2b19	UTSW	7	26,766,927 (GRCm38)	missense	probably damaging	1.00
R9650:Cyp2b19	UTSW	7	26,766,783 (GRCm38)	missense	possibly damaging	0.85
R9681:Cyp2b19	UTSW	7	26,766,903 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAGGTGTGTGCTCCCAAAAGG -3'
(R):5'- GGAAGTGCTCAGGATTGAAGCTGTC -3'

Sequencing Primer
(F):5'- TCCCAAAAGGGCACTGTG -3'
(R):5'- TCAGGATGGGGTACACCTCAG -3'

Posted On

2013-05-23