Mutagenetix > Incidental Mutations

Incidental Mutation 'R2223:Cyp2d11'

241636

Institutional Source

Beutler Lab

Gene Symbol

Cyp2d11

Ensembl Gene

ENSMUSG00000068085

Gene Name

cytochrome P450, family 2, subfamily d, polypeptide 11

Synonyms

Cyp2d, P450-2D

MMRRC Submission

040224-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R2223 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82389154-82394022 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82390131 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 350 (M350L)

Ref Sequence

ENSEMBL: ENSMUSP00000130338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170255]

Predicted Effect

probably benign
Transcript: ENSMUST00000170255
AA Change: M350L

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: M350L

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:p450	37	497	7.7e-140	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183858

Meta Mutation Damage Score

0.1176

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,247,457		probably null	Het
Abhd18	A	G	3: 40,934,861		probably benign	Het
Acvr1b	C	T	15: 101,203,043	A362V	probably benign	Het
Adamts5	A	C	16: 85,899,306	L321R	probably damaging	Het
Adamtsl1	A	C	4: 86,388,525	D1392A	probably benign	Het
Afdn	T	C	17: 13,883,737		probably benign	Het
Aph1b	A	T	9: 66,784,639	M121K	probably damaging	Het
Aspg	G	A	12: 112,114,434	A120T	probably damaging	Het
Atp8b1	T	A	18: 64,564,357	N472I	possibly damaging	Het
B4galt3	C	A	1: 171,274,043	H196N	probably damaging	Het
Cfd	A	T	10: 79,892,205		probably null	Het
Cntnap5b	A	G	1: 100,213,687	E242G	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Cradd	A	C	10: 95,175,873	V135G	probably benign	Het
Cry1	A	G	10: 85,143,753	C460R	probably damaging	Het
Cryz	A	T	3: 154,618,554	N192I	possibly damaging	Het
Emsy	T	C	7: 98,590,775	E1091G	possibly damaging	Het
Exoc3l4	C	G	12: 111,426,152	A471G	possibly damaging	Het
Fam184a	G	A	10: 53,655,079	T733M	probably damaging	Het
Fmo2	C	T	1: 162,898,244	C21Y	probably damaging	Het
Glul	T	A	1: 153,906,497		probably null	Het
Gm5174	T	A	10: 86,656,508		noncoding transcript	Het
Gtpbp2	A	G	17: 46,167,227	I434V	probably benign	Het
Kctd10	G	T	5: 114,367,349	R195S	probably benign	Het
Lrrc38	T	A	4: 143,369,849	C243*	probably null	Het
Luc7l2	T	C	6: 38,565,724		probably benign	Het
Magi2	T	A	5: 20,465,672	V111D	probably damaging	Het
Map3k5	T	C	10: 20,067,920	V590A	possibly damaging	Het
Megf11	G	A	9: 64,660,431	G401S	possibly damaging	Het
Mgat4d	G	A	8: 83,355,672		probably benign	Het
Mroh1	T	C	15: 76,408,045		probably null	Het
Mx1	T	C	16: 97,455,232		probably benign	Het
Nlrp1b	A	G	11: 71,155,989		probably benign	Het
Ntrk3	T	C	7: 78,198,852	I759V	probably damaging	Het
Olfr800	T	A	10: 129,659,809	M1K	probably null	Het
Pde8b	T	C	13: 95,043,447	N318S	probably damaging	Het
Pkd1l1	T	C	11: 8,889,063	T874A	probably benign	Het
Pkd1l1	T	C	11: 8,950,422	T40A	probably benign	Het
Prdm2	T	C	4: 143,134,899	N607S	possibly damaging	Het
Ptprn	A	T	1: 75,257,937		probably benign	Het
Setx	T	G	2: 29,148,537	I1678S	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,154,061		probably null	Het
Snap91	T	C	9: 86,792,527	T544A	possibly damaging	Het
Sp8	G	A	12: 118,849,738	G443S	probably damaging	Het
Stk39	C	T	2: 68,314,579	G384S	probably damaging	Het
Sva	T	A	6: 42,038,423	M1K	probably null	Het
Trip10	A	G	17: 57,263,039	D568G	possibly damaging	Het
Trpa1	A	T	1: 14,903,256	F279L	probably null	Het
Ttc39b	T	C	4: 83,232,762	N532S	probably benign	Het
Ube2w	A	G	1: 16,597,959	S97P	possibly damaging	Het
Uvssa	C	T	5: 33,392,063	T356I	probably damaging	Het
Vmn1r25	A	C	6: 57,979,238	L22R	probably damaging	Het
Vmn2r112	T	G	17: 22,601,233	M29R	possibly damaging	Het
Vmn2r71	T	A	7: 85,624,093	M705K	probably benign	Het
Zfp516	C	A	18: 82,955,770	A31D	possibly damaging	Het

Other mutations in Cyp2d11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Cyp2d11	APN	15	82392468	missense	probably benign	0.00
IGL00896:Cyp2d11	APN	15	82391074	splice site	probably benign
IGL02119:Cyp2d11	APN	15	82390064	missense	probably damaging	0.98
IGL02234:Cyp2d11	APN	15	82390139	missense	probably benign
IGL02347:Cyp2d11	APN	15	82390480	missense	probably benign	0.22
IGL02352:Cyp2d11	APN	15	82393920	missense	possibly damaging	0.50
IGL02359:Cyp2d11	APN	15	82393920	missense	possibly damaging	0.50
IGL02876:Cyp2d11	APN	15	82389496	missense	possibly damaging	0.85
IGL03079:Cyp2d11	APN	15	82390966	missense	probably damaging	1.00
IGL03259:Cyp2d11	APN	15	82390020	missense	probably damaging	0.99
FR4340:Cyp2d11	UTSW	15	82390022	frame shift	probably null
R0066:Cyp2d11	UTSW	15	82391757	missense	probably benign
R0066:Cyp2d11	UTSW	15	82391757	missense	probably benign
R0101:Cyp2d11	UTSW	15	82390194	splice site	probably benign
R0125:Cyp2d11	UTSW	15	82389221	missense	probably benign	0.45
R0973:Cyp2d11	UTSW	15	82389529	missense	possibly damaging	0.80
R1466:Cyp2d11	UTSW	15	82391735	missense	probably benign	0.00
R1466:Cyp2d11	UTSW	15	82391735	missense	probably benign	0.00
R1525:Cyp2d11	UTSW	15	82389297	missense	probably damaging	0.98
R1708:Cyp2d11	UTSW	15	82390432	missense	probably benign	0.01
R1968:Cyp2d11	UTSW	15	82389548	missense	probably benign	0.01
R2117:Cyp2d11	UTSW	15	82391753	missense	probably damaging	0.99
R2405:Cyp2d11	UTSW	15	82389266	missense	possibly damaging	0.88
R3745:Cyp2d11	UTSW	15	82391855	missense	probably benign	0.31
R4081:Cyp2d11	UTSW	15	82391801	missense	possibly damaging	0.86
R4496:Cyp2d11	UTSW	15	82391948	splice site	probably benign
R4732:Cyp2d11	UTSW	15	82389227	missense	probably benign	0.03
R4733:Cyp2d11	UTSW	15	82389227	missense	probably benign	0.03
R4880:Cyp2d11	UTSW	15	82392105	missense	probably benign	0.01
R4898:Cyp2d11	UTSW	15	82391023	missense	probably benign	0.03
R5045:Cyp2d11	UTSW	15	82391071	critical splice acceptor site	probably null
R5328:Cyp2d11	UTSW	15	82391771	missense	probably benign	0.04
R5356:Cyp2d11	UTSW	15	82390511	missense	probably benign	0.11
R5397:Cyp2d11	UTSW	15	82392078	missense	probably damaging	1.00
R5582:Cyp2d11	UTSW	15	82392118	splice site	probably null
R6862:Cyp2d11	UTSW	15	82390138	missense	probably benign
R7194:Cyp2d11	UTSW	15	82391768	missense	probably benign
R8097:Cyp2d11	UTSW	15	82390380	critical splice donor site	probably null
R8122:Cyp2d11	UTSW	15	82392543	missense	probably benign	0.27
R8152:Cyp2d11	UTSW	15	82392487	missense	probably benign
R8194:Cyp2d11	UTSW	15	82390437	missense	probably damaging	1.00
R8531:Cyp2d11	UTSW	15	82389228	missense	probably benign
Z1088:Cyp2d11	UTSW	15	82390111	missense	probably damaging	0.99
Z1177:Cyp2d11	UTSW	15	82392499	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGAAATAGGACGTGGTGGTCTC -3'
(R):5'- ATTCTTGTGGCACCCAGTG -3'

Sequencing Primer
(F):5'- AAATAGGACGTGGTGGTCTCTTCTG -3'
(R):5'- GTGCTAACTCAACCCAGACTC -3'

Posted On

2014-10-15