Mutagenetix > Incidental Mutations

Incidental Mutation 'R2206:Disp2'

239023

Institutional Source

Beutler Lab

Gene Symbol

Disp2

Ensembl Gene

ENSMUSG00000040035

Gene Name

dispatched RND tramsporter family member 2

Synonyms

B230210L08Rik, DispB

MMRRC Submission

040208-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R2206 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

118779719-118811293 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118792244 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 1152 (Q1152H)

Ref Sequence

ENSEMBL: ENSMUSP00000037136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037547] [ENSMUST00000063975] [ENSMUST00000110843] [ENSMUST00000110846]

Predicted Effect

probably benign
Transcript: ENSMUST00000037547
AA Change: Q1152H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: Q1152H

Domain	Start	End	E-Value	Type
transmembrane domain	123	145	N/A	INTRINSIC
low complexity region	195	203	N/A	INTRINSIC
Pfam:MMPL	435	635	9.7e-8	PFAM
Pfam:Sterol-sensing	458	611	9.1e-9	PFAM
transmembrane domain	657	679	N/A	INTRINSIC
low complexity region	682	695	N/A	INTRINSIC
low complexity region	748	761	N/A	INTRINSIC
transmembrane domain	914	936	N/A	INTRINSIC
transmembrane domain	943	965	N/A	INTRINSIC
transmembrane domain	975	997	N/A	INTRINSIC
transmembrane domain	1018	1040	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000063975

SMART Domains

Protein: ENSMUSP00000070031
Gene: ENSMUSG00000040035

Domain	Start	End	E-Value	Type
transmembrane domain	123	145	N/A	INTRINSIC
low complexity region	195	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110843

SMART Domains

Protein: ENSMUSP00000106467
Gene: ENSMUSG00000040035

Domain	Start	End	E-Value	Type
transmembrane domain	123	145	N/A	INTRINSIC
low complexity region	195	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110846

SMART Domains

Protein: ENSMUSP00000106470
Gene: ENSMUSG00000040035

Domain	Start	End	E-Value	Type
transmembrane domain	123	145	N/A	INTRINSIC
low complexity region	195	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142072

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,106	V300A	probably benign	Het
2310057M21Rik	A	T	7: 131,362,602	C24S	probably benign	Het
2410137M14Rik	A	G	17: 36,978,073		probably benign	Het
Abhd18	G	A	3: 40,910,573	G83D	probably benign	Het
Adam34	T	C	8: 43,652,237	I124V	probably benign	Het
Adck2	A	G	6: 39,583,839	D123G	probably damaging	Het
Arhgef2	A	G	3: 88,629,914	E37G	probably damaging	Het
Armc4	C	A	18: 7,223,676	G456W	probably benign	Het
Axl	T	C	7: 25,770,636	Y466C	probably damaging	Het
B4galt3	C	A	1: 171,274,043	H196N	probably damaging	Het
Bpifb9a	A	T	2: 154,264,241		probably null	Het
Brip1	A	G	11: 86,061,877	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,385,013	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133	Y109C	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cst13	A	T	2: 148,823,282	R66W	probably damaging	Het
Cstf2t	A	G	19: 31,083,775	N237S	probably benign	Het
Dhx8	A	G	11: 101,750,971	T632A	probably benign	Het
Dlg1	A	G	16: 31,853,846	H599R	probably benign	Het
Dmxl1	T	C	18: 49,894,094	S2090P	probably benign	Het
Dnajc13	C	G	9: 104,203,518	V821L	probably damaging	Het
Dopey1	T	A	9: 86,521,599	H1617Q	probably benign	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Ephb4	T	C	5: 137,357,719	C197R	probably damaging	Het
Foxn1	C	A	11: 78,358,804	A632S	probably benign	Het
Fpr3	A	C	17: 17,970,646	T60P	probably damaging	Het
Gja4	A	T	4: 127,312,617	S118T	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Itfg1	A	T	8: 85,776,198	S246R	probably benign	Het
Kazn	A	T	4: 142,118,292		probably null	Het
Mdn1	T	C	4: 32,716,271	L2111P	possibly damaging	Het
Myo6	A	G	9: 80,258,455	Y374C	probably benign	Het
Olfr1160	A	G	2: 88,006,235	V181A	probably benign	Het
Olfr1451	A	G	19: 12,999,040	D18G	probably benign	Het
Olfr345	G	T	2: 36,640,189	R50M	possibly damaging	Het
Olfr403	G	T	11: 74,196,324	V274L	possibly damaging	Het
Pcdhb15	A	T	18: 37,475,022	T436S	probably benign	Het
Pcdhb18	T	A	18: 37,491,289	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,335,580	M518T	probably benign	Het
Pcmtd1	A	T	1: 7,169,583	I83L	probably benign	Het
Pitrm1	T	A	13: 6,569,291	Y721N	probably damaging	Het
Prcp	C	T	7: 92,928,612	T328I	probably damaging	Het
Psg27	C	A	7: 18,567,111	E6*	probably null	Het
Pth1r	T	A	9: 110,723,587	E465V	probably damaging	Het
Pus7l	T	C	15: 94,523,590	Y613C	probably damaging	Het
Rsl1	A	G	13: 67,182,828	T447A	probably benign	Het
Setd3	C	T	12: 108,107,285	V578M	probably benign	Het
Slc10a1	T	C	12: 80,967,628	N106S	probably damaging	Het
Slc29a3	T	C	10: 60,715,907	M453V	possibly damaging	Het
Slc4a8	T	C	15: 100,807,445	V844A	probably damaging	Het
Sorcs1	T	C	19: 50,230,217	H609R	possibly damaging	Het
Tmppe	C	G	9: 114,405,572	P313R	probably benign	Het
Tnxb	A	C	17: 34,709,417	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,873,442	N1643S	probably benign	Het
Trmt1l	T	C	1: 151,435,843		probably null	Het
Vmn1r177	A	T	7: 23,866,131	C107S	probably damaging	Het
Vmn1r225	A	G	17: 20,502,349	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Wdr7	T	A	18: 63,777,607	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,303,402	E36D	possibly damaging	Het
Zbtb40	G	A	4: 137,017,285	Q275*	probably null	Het
Zfp513	T	G	5: 31,200,423	K202T	probably damaging	Het

Other mutations in Disp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Disp2	APN	2	118786278	missense	probably damaging	1.00
IGL00970:Disp2	APN	2	118791793	missense	probably damaging	1.00
IGL01790:Disp2	APN	2	118790880	missense	probably damaging	1.00
IGL01809:Disp2	APN	2	118787264	splice site	probably benign
IGL02069:Disp2	APN	2	118790680	missense	possibly damaging	0.93
IGL02140:Disp2	APN	2	118790869	missense	probably benign
IGL02143:Disp2	APN	2	118789969	missense	probably damaging	1.00
IGL02155:Disp2	APN	2	118791804	missense	probably damaging	1.00
IGL02884:Disp2	APN	2	118787551	splice site	probably benign
IGL03113:Disp2	APN	2	118790778	splice site	probably null
IGL03194:Disp2	APN	2	118787629	missense	probably damaging	1.00
PIT4453001:Disp2	UTSW	2	118787644	missense	probably benign	0.01
R0109:Disp2	UTSW	2	118791816	missense	probably damaging	1.00
R0126:Disp2	UTSW	2	118790338	missense	probably damaging	1.00
R0603:Disp2	UTSW	2	118792006	missense	probably damaging	1.00
R0610:Disp2	UTSW	2	118792236	missense	probably benign	0.02
R0639:Disp2	UTSW	2	118790844	missense	possibly damaging	0.74
R0673:Disp2	UTSW	2	118790844	missense	possibly damaging	0.74
R0755:Disp2	UTSW	2	118789762	missense	probably benign	0.00
R0781:Disp2	UTSW	2	118790439	missense	probably damaging	1.00
R1110:Disp2	UTSW	2	118790439	missense	probably damaging	1.00
R1148:Disp2	UTSW	2	118806418	critical splice donor site	probably null
R1148:Disp2	UTSW	2	118806418	critical splice donor site	probably null
R1243:Disp2	UTSW	2	118791822	missense	probably damaging	1.00
R1587:Disp2	UTSW	2	118791583	missense	probably damaging	1.00
R1739:Disp2	UTSW	2	118791550	missense	probably damaging	1.00
R1771:Disp2	UTSW	2	118791297	nonsense	probably null
R1781:Disp2	UTSW	2	118792561	missense	probably damaging	0.96
R1918:Disp2	UTSW	2	118791927	missense	probably benign
R1956:Disp2	UTSW	2	118792223	missense	probably benign	0.02
R2167:Disp2	UTSW	2	118791685	missense	probably damaging	1.00
R4031:Disp2	UTSW	2	118791880	missense	probably benign	0.27
R4617:Disp2	UTSW	2	118790162	missense	probably benign
R4656:Disp2	UTSW	2	118790563	missense	probably damaging	1.00
R4684:Disp2	UTSW	2	118792756	missense	probably damaging	1.00
R4696:Disp2	UTSW	2	118791684	nonsense	probably null
R4697:Disp2	UTSW	2	118791684	nonsense	probably null
R4738:Disp2	UTSW	2	118790326	missense	probably damaging	0.97
R4834:Disp2	UTSW	2	118792504	missense	probably benign	0.09
R4914:Disp2	UTSW	2	118790454	missense	probably damaging	0.99
R4915:Disp2	UTSW	2	118790454	missense	probably damaging	0.99
R4918:Disp2	UTSW	2	118790454	missense	probably damaging	0.99
R5045:Disp2	UTSW	2	118792062	missense	probably benign	0.03
R5208:Disp2	UTSW	2	118791805	missense	probably damaging	1.00
R5303:Disp2	UTSW	2	118810848	unclassified	probably benign
R5350:Disp2	UTSW	2	118787575	missense	probably benign	0.23
R5355:Disp2	UTSW	2	118786911	missense	probably benign	0.00
R6011:Disp2	UTSW	2	118790820	missense	possibly damaging	0.65
R6031:Disp2	UTSW	2	118789794	missense	probably benign	0.01
R6031:Disp2	UTSW	2	118789794	missense	probably benign	0.01
R6139:Disp2	UTSW	2	118790662	missense	probably damaging	0.97
R6169:Disp2	UTSW	2	118791550	missense	probably damaging	1.00
R6187:Disp2	UTSW	2	118792143	missense	probably damaging	1.00
R6209:Disp2	UTSW	2	118786921	missense	probably damaging	1.00
R6250:Disp2	UTSW	2	118790766	missense	probably damaging	1.00
R6392:Disp2	UTSW	2	118790749	missense	probably damaging	1.00
R7138:Disp2	UTSW	2	118786880	missense	probably benign
R7156:Disp2	UTSW	2	118791811	missense	probably damaging	1.00
R7230:Disp2	UTSW	2	118791805	missense	probably damaging	1.00
R7400:Disp2	UTSW	2	118791886	missense	probably damaging	1.00
R7460:Disp2	UTSW	2	118789780	missense	probably damaging	1.00
R7505:Disp2	UTSW	2	118791088	missense	probably damaging	1.00
R7542:Disp2	UTSW	2	118791118	missense	probably damaging	0.97
R7728:Disp2	UTSW	2	118791480	missense	probably benign	0.31
R7757:Disp2	UTSW	2	118790910	missense	probably damaging	1.00
R7798:Disp2	UTSW	2	118791879	missense	probably benign
R7945:Disp2	UTSW	2	118792789	missense	probably damaging	1.00
R8013:Disp2	UTSW	2	118789682	nonsense	probably null
R8085:Disp2	UTSW	2	118786971	missense	possibly damaging	0.94
R8179:Disp2	UTSW	2	118792549	missense	probably damaging	0.99
R8288:Disp2	UTSW	2	118790281	missense	probably damaging	1.00
R8345:Disp2	UTSW	2	118810803	missense	unknown
R8385:Disp2	UTSW	2	118790410	missense	probably damaging	1.00
Z1177:Disp2	UTSW	2	118789702	missense	probably damaging	0.99
Z1177:Disp2	UTSW	2	118790827	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTGTGGCCAGATCCTCTG -3'
(R):5'- TCCACTTTGGACTTAGGGCAG -3'

Sequencing Primer
(F):5'- ATGCCGGGACTGAGGATC -3'
(R):5'- GGACTTAGGGCAGTGGGC -3'

Posted On

2014-10-02