Mutagenetix > Incidental Mutation

Incidental Mutation 'R5320:Dopey2'

406085

Institutional Source

Beutler Lab

Gene Symbol

Dopey2

Ensembl Gene

ENSMUSG00000022946

Gene Name

dopey family member 2

Synonyms

0610038M01Rik, 2610510B01Rik

MMRRC Submission

042903-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5320 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93711904-93810590 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93739986 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 113 (L113P)

Ref Sequence

ENSEMBL: ENSMUSP00000044437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045004] [ENSMUST00000227156] [ENSMUST00000228846]

AlphaFold

Q3UHQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000045004
AA Change: L113P

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

SMART Domains

Protein: ENSMUSP00000044437
Gene: ENSMUSG00000022946
AA Change: L113P

Domain	Start	End	E-Value	Type
Pfam:Dopey_N	11	308	3.9e-104	PFAM
low complexity region	651	666	N/A	INTRINSIC
low complexity region	709	719	N/A	INTRINSIC
low complexity region	747	759	N/A	INTRINSIC
low complexity region	1186	1199	N/A	INTRINSIC
low complexity region	1436	1451	N/A	INTRINSIC
low complexity region	1893	1908	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226418

Predicted Effect

probably benign
Transcript: ENSMUST00000227156

Predicted Effect

probably benign
Transcript: ENSMUST00000228846

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,307,567	I581N	probably damaging	Het
Abcb10	A	G	8: 123,971,024	F187S	probably benign	Het
Actl11	T	A	9: 107,931,004	V842E	possibly damaging	Het
Akap12	A	G	10: 4,357,291	D1367G	probably benign	Het
AU040320	A	T	4: 126,823,716	H362L	possibly damaging	Het
Bmpr1a	C	T	14: 34,425,042	V258M	probably damaging	Het
Bptf	T	A	11: 107,081,367	K892*	probably null	Het
Cap2	A	G	13: 46,648,364	*422W	probably null	Het
Cars2	G	T	8: 11,517,854	H414N	probably benign	Het
Ccnt1	A	C	15: 98,544,243	S381R	probably benign	Het
Cdyl2	A	T	8: 116,595,055	C244*	probably null	Het
Cers2	A	G	3: 95,320,994	E115G	probably null	Het
Cpt1b	G	A	15: 89,419,274	P553S	probably benign	Het
Cuedc1	A	G	11: 88,177,310	E128G	probably damaging	Het
Dll4	T	A	2: 119,326,487	V80D	probably damaging	Het
Doxl2	T	A	6: 48,975,540	L133Q	probably damaging	Het
Fam98a	A	G	17: 75,538,815	I312T	probably damaging	Het
Gnrhr	T	G	5: 86,197,614	K71T	possibly damaging	Het
Gtf3c3	A	T	1: 54,405,873	L674Q	probably damaging	Het
Hipk2	A	T	6: 38,818,277	H352Q	probably damaging	Het
Hivep1	T	C	13: 42,159,639	V1785A	probably damaging	Het
Hspa4	A	T	11: 53,262,983	I687N	probably damaging	Het
Krt18	A	T	15: 102,028,520	D81V	probably damaging	Het
Lama3	A	C	18: 12,552,855	D1142A	probably damaging	Het
Lnpep	A	G	17: 17,546,465	I713T	possibly damaging	Het
Man2b2	T	A	5: 36,810,333	Y897F	probably damaging	Het
Muc5b	A	T	7: 141,859,001	I1895F	unknown	Het
Myh8	G	A	11: 67,286,263	V414I	probably damaging	Het
Myo1d	A	T	11: 80,684,323		probably null	Het
Nav2	A	T	7: 49,491,373	M889L	probably benign	Het
Oc90	C	T	15: 65,882,608	G236D	probably benign	Het
Olfr60	A	G	7: 140,345,635	V118A	probably benign	Het
Pak4	A	G	7: 28,568,206	I11T	probably damaging	Het
Papss2	T	C	19: 32,638,387	I173T	probably damaging	Het
Pcsk9	A	T	4: 106,463,791	D40E	probably benign	Het
Pdzrn3	G	C	6: 101,151,103	H867Q	probably damaging	Het
Plcb1	A	T	2: 135,252,776	I174F	possibly damaging	Het
Pom121l2	G	A	13: 21,981,845	W95*	probably null	Het
Prcp	A	T	7: 92,928,635	T336S	probably benign	Het
Prdm11	A	C	2: 93,012,881	S78A	probably benign	Het
Ralgds	T	C	2: 28,545,212	I405T	probably damaging	Het
Rasgrf1	A	G	9: 90,020,425	R1208G	probably damaging	Het
Rasgrp2	T	A	19: 6,408,834		probably null	Het
Rb1	A	T	14: 73,213,126	Y599*	probably null	Het
Rnf141	A	T	7: 110,833,803	F62L	probably damaging	Het
Rsl24d1	T	A	9: 73,116,416	F292I	possibly damaging	Het
Scn10a	C	T	9: 119,648,109	V736I	probably damaging	Het
Sim2	A	T	16: 94,104,739	T141S	probably benign	Het
Slc6a15	G	T	10: 103,408,206	V436L	probably damaging	Het
Smarca2	T	C	19: 26,691,372	S924P	probably damaging	Het
Svs1	T	A	6: 48,987,575	F172L	probably benign	Het
Tacc1	T	C	8: 25,181,865	E449G	probably benign	Het
Tlr3	A	T	8: 45,399,100	N253K	possibly damaging	Het
Tmem198	G	A	1: 75,479,856	A82T	probably benign	Het
Tom1l2	A	T	11: 60,242,822	L54*	probably null	Het
Trav12-2	A	G	14: 53,616,899	Y110C	probably benign	Het
Trdn	T	A	10: 33,333,251		probably null	Het
Trim36	G	T	18: 46,167,498	P690Q	probably damaging	Het
Trpc4	A	T	3: 54,299,178	M600L	probably damaging	Het
Trpm2	T	A	10: 77,923,521	Q1143L	probably benign	Het
Usp34	T	A	11: 23,333,739	D144E	probably benign	Het
Vps18	A	T	2: 119,297,377	R894*	probably null	Het
Vwa1	A	G	4: 155,770,912	V248A	probably benign	Het
Wdr75	T	C	1: 45,799,051	V40A	probably damaging	Het

Other mutations in Dopey2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Dopey2	APN	16	93800026	unclassified	probably benign
IGL00492:Dopey2	APN	16	93780782	missense	probably benign	0.00
IGL00753:Dopey2	APN	16	93769624	missense	probably benign
IGL00832:Dopey2	APN	16	93763401	missense	probably benign	0.01
IGL00939:Dopey2	APN	16	93774083	missense	possibly damaging	0.83
IGL01019:Dopey2	APN	16	93810229	missense	probably benign	0.32
IGL01288:Dopey2	APN	16	93739293	missense	possibly damaging	0.78
IGL01505:Dopey2	APN	16	93757116	missense	possibly damaging	0.87
IGL01535:Dopey2	APN	16	93769958	nonsense	probably null
IGL01696:Dopey2	APN	16	93770240	missense	probably benign	0.00
IGL02077:Dopey2	APN	16	93780760	missense	probably damaging	0.96
IGL02163:Dopey2	APN	16	93762427	missense	possibly damaging	0.48
IGL02234:Dopey2	APN	16	93752151	missense	probably benign
IGL02302:Dopey2	APN	16	93810117	missense	probably benign	0.08
IGL02485:Dopey2	APN	16	93770822	missense	probably damaging	1.00
IGL02563:Dopey2	APN	16	93777405	missense	probably damaging	0.99
IGL02733:Dopey2	APN	16	93739191	missense	possibly damaging	0.80
IGL02792:Dopey2	APN	16	93801572	missense	possibly damaging	0.75
IGL02941:Dopey2	APN	16	93755473	missense	probably benign	0.09
IGL03143:Dopey2	APN	16	93759655	missense	probably benign
PIT4519001:Dopey2	UTSW	16	93762054	missense	probably benign
R0320:Dopey2	UTSW	16	93810147	missense	probably benign	0.02
R0499:Dopey2	UTSW	16	93770437	missense	probably benign	0.00
R0501:Dopey2	UTSW	16	93752862	missense	probably benign	0.00
R0534:Dopey2	UTSW	16	93762505	missense	probably benign	0.04
R0583:Dopey2	UTSW	16	93755486	missense	probably benign	0.30
R0626:Dopey2	UTSW	16	93763956	missense	probably damaging	1.00
R0724:Dopey2	UTSW	16	93762325	missense	probably benign	0.01
R0907:Dopey2	UTSW	16	93801593	missense	probably damaging	1.00
R1263:Dopey2	UTSW	16	93777386	missense	probably benign
R1378:Dopey2	UTSW	16	93770392	missense	probably benign
R1572:Dopey2	UTSW	16	93770153	missense	probably damaging	1.00
R1604:Dopey2	UTSW	16	93762570	missense	probably benign
R1642:Dopey2	UTSW	16	93762315	missense	probably benign	0.00
R1668:Dopey2	UTSW	16	93765516	missense	probably damaging	1.00
R1669:Dopey2	UTSW	16	93769660	missense	probably damaging	1.00
R1702:Dopey2	UTSW	16	93747621	missense	possibly damaging	0.47
R1711:Dopey2	UTSW	16	93799926	missense	probably damaging	1.00
R1917:Dopey2	UTSW	16	93716262	missense	probably damaging	1.00
R1968:Dopey2	UTSW	16	93782419	missense	probably damaging	1.00
R1988:Dopey2	UTSW	16	93766173	missense	probably damaging	1.00
R2029:Dopey2	UTSW	16	93769435	missense	probably benign	0.36
R2139:Dopey2	UTSW	16	93771007	missense	possibly damaging	0.78
R2355:Dopey2	UTSW	16	93770677	missense	probably damaging	1.00
R3609:Dopey2	UTSW	16	93739332	missense	probably damaging	1.00
R3792:Dopey2	UTSW	16	93771846	missense	possibly damaging	0.54
R4364:Dopey2	UTSW	16	93770924	missense	probably benign	0.00
R4380:Dopey2	UTSW	16	93716232	missense	possibly damaging	0.53
R4455:Dopey2	UTSW	16	93766215	missense	probably damaging	1.00
R4779:Dopey2	UTSW	16	93757081	missense	probably damaging	1.00
R4820:Dopey2	UTSW	16	93793090	missense	probably benign	0.00
R4834:Dopey2	UTSW	16	93740004	start codon destroyed	probably null	0.70
R4866:Dopey2	UTSW	16	93763430	critical splice donor site	probably null
R4882:Dopey2	UTSW	16	93752914	missense	possibly damaging	0.95
R4900:Dopey2	UTSW	16	93763430	critical splice donor site	probably null
R5153:Dopey2	UTSW	16	93774003	missense	probably damaging	0.98
R5176:Dopey2	UTSW	16	93740043	missense	probably damaging	1.00
R5206:Dopey2	UTSW	16	93801584	missense	probably damaging	1.00
R5361:Dopey2	UTSW	16	93770504	missense	probably damaging	1.00
R5380:Dopey2	UTSW	16	93763410	missense	probably damaging	0.96
R5476:Dopey2	UTSW	16	93773913	splice site	probably null
R5502:Dopey2	UTSW	16	93793226	missense	probably benign	0.00
R5543:Dopey2	UTSW	16	93798920	missense	probably damaging	0.98
R5557:Dopey2	UTSW	16	93763931	missense	probably damaging	0.96
R5901:Dopey2	UTSW	16	93769751	missense	possibly damaging	0.88
R5907:Dopey2	UTSW	16	93801581	missense	probably damaging	1.00
R6174:Dopey2	UTSW	16	93766222	missense	probably damaging	1.00
R6256:Dopey2	UTSW	16	93807214	missense	possibly damaging	0.94
R6383:Dopey2	UTSW	16	93782248	missense	possibly damaging	0.76
R6525:Dopey2	UTSW	16	93809416	missense	probably damaging	1.00
R6554:Dopey2	UTSW	16	93760458	missense	probably benign	0.22
R6823:Dopey2	UTSW	16	93755485	missense	possibly damaging	0.75
R7036:Dopey2	UTSW	16	93777490	missense	probably benign	0.01
R7058:Dopey2	UTSW	16	93776990	missense	probably benign	0.00
R7061:Dopey2	UTSW	16	93762063	missense	probably benign	0.00
R7209:Dopey2	UTSW	16	93769845	missense	probably benign
R7214:Dopey2	UTSW	16	93810135	missense	possibly damaging	0.69
R7232:Dopey2	UTSW	16	93760485	critical splice donor site	probably null
R7255:Dopey2	UTSW	16	93770146	missense	probably damaging	1.00
R7335:Dopey2	UTSW	16	93747508	missense	probably benign	0.04
R7535:Dopey2	UTSW	16	93806361	missense	probably damaging	1.00
R7700:Dopey2	UTSW	16	93798761	splice site	probably null
R7763:Dopey2	UTSW	16	93755514	missense	probably benign	0.00
R7814:Dopey2	UTSW	16	93799971	missense	probably damaging	1.00
R7839:Dopey2	UTSW	16	93763941	missense	probably damaging	1.00
R7862:Dopey2	UTSW	16	93749963	missense	probably damaging	1.00
R7894:Dopey2	UTSW	16	93810204	missense	probably benign	0.01
R7952:Dopey2	UTSW	16	93749960	missense	possibly damaging	0.93
R7956:Dopey2	UTSW	16	93771028	critical splice donor site	probably null
R8033:Dopey2	UTSW	16	93769483	missense	probably benign
R8061:Dopey2	UTSW	16	93749996	missense	probably damaging	1.00
R8067:Dopey2	UTSW	16	93765448	nonsense	probably null
R8146:Dopey2	UTSW	16	93749939	missense	possibly damaging	0.95
R8184:Dopey2	UTSW	16	93776993	missense	probably benign	0.13
R8221:Dopey2	UTSW	16	93749959	missense	probably benign	0.01
R8263:Dopey2	UTSW	16	93762195	missense	possibly damaging	0.87
R8329:Dopey2	UTSW	16	93771787	missense	probably damaging	1.00
R8555:Dopey2	UTSW	16	93771810	missense	probably damaging	1.00
R8683:Dopey2	UTSW	16	93771811	missense	probably damaging	0.98
R8683:Dopey2	UTSW	16	93773921	missense	probably benign
R8716:Dopey2	UTSW	16	93780785	nonsense	probably null
R8807:Dopey2	UTSW	16	93762085	missense	probably benign	0.03
R8840:Dopey2	UTSW	16	93810117	missense	probably benign	0.08
R8851:Dopey2	UTSW	16	93762510	missense	probably benign	0.39
R8884:Dopey2	UTSW	16	93759662	missense	probably benign
R8976:Dopey2	UTSW	16	93762081	missense	probably benign	0.01
R9219:Dopey2	UTSW	16	93770296	missense	probably damaging	1.00
R9238:Dopey2	UTSW	16	93749130	missense	probably benign	0.14
R9284:Dopey2	UTSW	16	93760308	missense	probably damaging	1.00
R9289:Dopey2	UTSW	16	93771793	missense	probably damaging	1.00
R9298:Dopey2	UTSW	16	93800199	missense	probably damaging	0.96
R9338:Dopey2	UTSW	16	93803560	missense	probably damaging	1.00
R9346:Dopey2	UTSW	16	93780814	critical splice donor site	probably null
R9444:Dopey2	UTSW	16	93810239	missense	probably benign	0.00
R9500:Dopey2	UTSW	16	93810283	missense	probably benign
R9601:Dopey2	UTSW	16	93747643	missense	possibly damaging	0.87
R9793:Dopey2	UTSW	16	93801615	missense	probably benign	0.30
Z1088:Dopey2	UTSW	16	93763326	missense	probably benign	0.00
Z1176:Dopey2	UTSW	16	93769581	missense	probably benign	0.00
Z1176:Dopey2	UTSW	16	93803546	missense	probably damaging	1.00
Z1176:Dopey2	UTSW	16	93807868	missense	possibly damaging	0.82
Z1177:Dopey2	UTSW	16	93763895	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGTTAAATGGTTCCAGTTGC -3'
(R):5'- CCTGCAGCCCAGACATGATATC -3'

Sequencing Primer
(F):5'- CCATCTGGGACTAGGGTAGAGC -3'
(R):5'- TGATATCCACCAACCTTTCATAGATC -3'

Posted On

2016-07-22