Mutagenetix > Incidental Mutations

Incidental Mutation 'R6187:Disp2'

502219

Institutional Source

Beutler Lab

Gene Symbol

Disp2

Ensembl Gene

ENSMUSG00000040035

Gene Name

dispatched RND tramsporter family member 2

Synonyms

B230210L08Rik, DispB

MMRRC Submission

044327-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R6187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118779719-118811293 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118792143 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1119 (S1119G)

Ref Sequence

ENSEMBL: ENSMUSP00000037136 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000037547
AA Change: S1119G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: S1119G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (79/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	G	A	7: 131,270,599		probably benign	Het
Abca13	T	A	11: 9,309,085	L2937H	probably damaging	Het
Abca3	A	G	17: 24,408,167	I1281V	possibly damaging	Het
Adam2	A	T	14: 66,068,619	S138T	possibly damaging	Het
Adamts4	C	T	1: 171,250,993	P61S	probably damaging	Het
Adamts6	C	T	13: 104,297,425	P121S	probably damaging	Het
AF529169	A	G	9: 89,591,167	I897T	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ak1	G	A	2: 32,633,477	V186M	probably damaging	Het
Alpk1	T	C	3: 127,673,342	Y1096C	probably damaging	Het
Ankrd29	A	C	18: 12,279,690	Y73*	probably null	Het
Asah2	A	T	19: 32,024,867	S292R	probably damaging	Het
Atp6v1b1	A	T	6: 83,752,395	T105S	probably damaging	Het
Axdnd1	T	A	1: 156,365,612		probably null	Het
Bub1b	T	G	2: 118,631,000	S678A	probably damaging	Het
Cenpq	T	A	17: 40,927,198	M142L	probably benign	Het
Ciz1	T	A	2: 32,370,051	V203E	possibly damaging	Het
Col2a1	G	T	15: 97,988,790	T378N	unknown	Het
Cyp2c68	A	T	19: 39,741,008	S12T	probably benign	Het
Cyp4f18	C	A	8: 71,993,186	A322S	probably damaging	Het
Eif2ak4	C	T	2: 118,457,157	T1081M	probably damaging	Het
Faxc	A	G	4: 21,958,445	T201A	possibly damaging	Het
Fbxw14	A	G	9: 109,276,264	S278P	probably damaging	Het
Fpr1	G	T	17: 17,876,928	C266*	probably null	Het
Fsip2	T	C	2: 82,982,454	I3039T	probably benign	Het
Gas1	G	T	13: 60,176,372	S190R	possibly damaging	Het
Gemin2	A	G	12: 59,013,585	T37A	probably damaging	Het
Gm21370	T	C	13: 120,026,867	I49V	probably benign	Het
Gm8444	T	C	15: 81,843,606		probably benign	Het
Gpr1	T	C	1: 63,183,275	E267G	probably damaging	Het
Gria1	A	G	11: 57,238,110	D401G	possibly damaging	Het
Gstk1	G	A	6: 42,249,860	V187I	possibly damaging	Het
Hmcn1	T	C	1: 150,630,728	D3776G	probably damaging	Het
Itfg1	A	C	8: 85,836,465	V102G	probably damaging	Het
Kidins220	A	G	12: 25,051,308		probably null	Het
Kif13b	A	C	14: 64,736,215	D338A	probably damaging	Het
Mab21l2	T	C	3: 86,547,258	Y145C	probably damaging	Het
Magel2	A	G	7: 62,377,641	M98V	unknown	Het
Mdfic	T	C	6: 15,721,197		probably benign	Het
Mlip	G	A	9: 77,230,482	S381L	probably damaging	Het
Mycbp2	A	G	14: 103,147,017	L3475P	probably damaging	Het
Myh14	G	A	7: 44,627,033	T1216I	probably damaging	Het
Nfatc2	T	A	2: 168,480,238	I914F	probably benign	Het
Nupl1	T	C	14: 60,240,807		probably null	Het
Olfr1115	T	A	2: 87,252,698	S254T	probably damaging	Het
Olfr120	T	C	17: 37,726,141	L48P	probably damaging	Het
Olfr1383	G	T	11: 49,523,511		probably benign	Het
Olfr469	A	T	7: 107,822,574	N298K	probably benign	Het
Olfr535	A	G	7: 140,492,616		probably benign	Het
Olfr724	A	G	14: 49,961,069	M1T	probably null	Het
Olfr835	A	C	9: 19,035,393	Q90P	probably benign	Het
Otx1	A	T	11: 21,999,406	L24H	probably damaging	Het
Oxr1	A	G	15: 41,825,919	Q513R	probably damaging	Het
Padi1	C	T	4: 140,826,965	V310M	probably damaging	Het
Pard3	T	C	8: 127,073,273	L11S	probably benign	Het
Pcdhb14	A	T	18: 37,448,444	D201V	probably damaging	Het
Pcdhb7	A	G	18: 37,342,569	R253G	probably benign	Het
Plxnb2	C	T	15: 89,167,258	D253N	probably damaging	Het
Ppp2cb	T	C	8: 33,615,474	S171P	probably damaging	Het
Prr5	C	T	15: 84,693,772	T94M	probably damaging	Het
Rp1	A	G	1: 4,349,869	F340S	probably damaging	Het
Rpa1	C	G	11: 75,310,236	G433A	probably benign	Het
Smg1	A	T	7: 118,189,163		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Homo
Svep1	C	T	4: 58,072,872	G2146R	probably damaging	Het
Tas2r106	A	G	6: 131,678,210	M226T	probably damaging	Het
Tbk1	T	C	10: 121,584,243	I14V	probably benign	Het
Tekt4	G	C	17: 25,472,223	V168L	probably damaging	Het
Tnfaip1	T	A	11: 78,527,546	T232S	probably damaging	Het
Trio	C	T	15: 27,743,952		probably null	Het
Ttn	T	A	2: 76,944,437	Y2133F	unknown	Het
Uap1l1	C	T	2: 25,362,729	R433H	probably damaging	Het
Ugt2b35	T	C	5: 87,007,322	F339L	probably damaging	Het
Unc5b	T	C	10: 60,772,224	Y699C	probably damaging	Het
Vcpip1	T	C	1: 9,724,780	H1122R	probably damaging	Het
Vmn2r91	T	C	17: 18,106,626	V391A	probably benign	Het
Vps13c	C	T	9: 67,915,657	R1327W	probably damaging	Het
Yes1	A	G	5: 32,645,041	Y100C	probably damaging	Het
Zfp407	A	T	18: 84,559,009	N1326K	possibly damaging	Het
Zfp518a	G	A	19: 40,915,446	C1273Y	probably benign	Het
Zfr	AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA	AGCAGCAGCA	15: 12,146,231		probably benign	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
R2206:Disp2	UTSW	2	118792244	missense	probably benign	0.02
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
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'- TCTATCGGAAGCTGGGCATC -3'
(R):5'- CACTGGCTGAAGACTGTCTG -3'

Sequencing Primer
(F):5'- AAGCTGGGCATCATCGTCATG -3'
(R):5'- CTGGTGGTCTAGGAGCAGATC -3'

Posted On

2018-02-27