Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02069:Disp2'

185737

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Disp2

Ensembl Gene

ENSMUSG00000040035

Gene Name

dispatched RND transporter family member 2

Synonyms

B230210L08Rik, DispB

Accession Numbers

Essential gene?

Probably essential (E-score: 0.889) question?

Stock #

IGL02069

Quality Score

Status

Chromosome

Chromosomal Location

118610183-118625656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118621161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 631 (I631N)

Ref Sequence

ENSEMBL: ENSMUSP00000037136 (fasta)

Gene Model

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

AlphaFold

Q8CIP5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037547
AA Change: I631N

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: I631N

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 78,742,500 (GRCm39)	V569M	possibly damaging	Het
Alms1	T	C	6: 85,605,805 (GRCm39)	V2016A	probably benign	Het
Apcdd1	T	A	18: 63,083,054 (GRCm39)	W295R	probably damaging	Het
Arid5b	T	A	10: 67,933,229 (GRCm39)	D648V	probably damaging	Het
C2cd6	A	G	1: 59,091,700 (GRCm39)		probably benign	Het
Cst12	A	T	2: 148,634,368 (GRCm39)	D101V	probably damaging	Het
Cyp46a1	T	A	12: 108,312,394 (GRCm39)	Y135N	probably benign	Het
D630045J12Rik	T	C	6: 38,161,007 (GRCm39)	S1046G	probably damaging	Het
Dhtkd1	A	T	2: 5,935,745 (GRCm39)	Y122*	probably null	Het
Dna2	A	G	10: 62,794,773 (GRCm39)	I387V	probably benign	Het
Dnah7a	A	T	1: 53,601,053 (GRCm39)		probably benign	Het
Eif2ak3	T	C	6: 70,873,949 (GRCm39)	F954S	probably damaging	Het
Elp1	C	T	4: 56,779,731 (GRCm39)	G560D	probably benign	Het
Fancm	C	A	12: 65,122,685 (GRCm39)	A69D	probably benign	Het
Fbxo34	T	A	14: 47,767,070 (GRCm39)	D143E	probably damaging	Het
Fchsd1	G	A	18: 38,100,667 (GRCm39)	R144*	probably null	Het
Fip1l1	A	G	5: 74,752,534 (GRCm39)	D402G	probably damaging	Het
Frem1	A	G	4: 82,821,788 (GRCm39)	S2107P	probably damaging	Het
Gm1527	A	G	3: 28,980,763 (GRCm39)	N621S	possibly damaging	Het
Hddc2	G	A	10: 31,192,314 (GRCm39)	D54N	probably damaging	Het
Ighm	T	A	12: 113,384,768 (GRCm39)		probably benign	Het
Il17d	G	T	14: 57,779,972 (GRCm39)	E165*	probably null	Het
Kmt5b	A	T	19: 3,857,335 (GRCm39)	K364M	probably damaging	Het
Ldb1	C	A	19: 46,021,617 (GRCm39)	W390L	possibly damaging	Het
Lgmn	T	C	12: 102,370,558 (GRCm39)	E124G	possibly damaging	Het
Mroh2b	A	G	15: 4,933,806 (GRCm39)		probably benign	Het
Pga5	C	T	19: 10,646,763 (GRCm39)	G323S	possibly damaging	Het
Pkd1l3	A	T	8: 110,362,012 (GRCm39)	N1018I	probably damaging	Het
Polr2b	A	G	5: 77,491,044 (GRCm39)	T962A	probably benign	Het
Ptger1	A	G	8: 84,396,086 (GRCm39)	E381G	probably benign	Het
Sec24a	A	T	11: 51,624,761 (GRCm39)		probably benign	Het
Serpine2	T	A	1: 79,799,129 (GRCm39)	I42F	possibly damaging	Het
Sh3tc1	C	T	5: 35,876,339 (GRCm39)	R122Q	probably benign	Het
Slc15a2	T	C	16: 36,579,613 (GRCm39)	I347V	probably benign	Het
Snx4	T	C	16: 33,084,725 (GRCm39)	Y80H	probably damaging	Het
Spata16	C	A	3: 26,786,944 (GRCm39)	C207*	probably null	Het
Syne2	A	G	12: 75,974,186 (GRCm39)	Q1128R	probably benign	Het
Tamalin	A	G	15: 101,122,346 (GRCm39)	Y55C	probably damaging	Het
Trpm4	T	A	7: 44,968,718 (GRCm39)	N405I	probably damaging	Het
Upp2	A	G	2: 58,661,429 (GRCm39)		probably benign	Het

Other mutations in Disp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Disp2	APN	2	118,616,759 (GRCm39)	missense	probably damaging	1.00
IGL00970:Disp2	APN	2	118,622,274 (GRCm39)	missense	probably damaging	1.00
IGL01790:Disp2	APN	2	118,621,361 (GRCm39)	missense	probably damaging	1.00
IGL01809:Disp2	APN	2	118,617,745 (GRCm39)	splice site	probably benign
IGL02140:Disp2	APN	2	118,621,350 (GRCm39)	missense	probably benign
IGL02143:Disp2	APN	2	118,620,450 (GRCm39)	missense	probably damaging	1.00
IGL02155:Disp2	APN	2	118,622,285 (GRCm39)	missense	probably damaging	1.00
IGL02884:Disp2	APN	2	118,618,032 (GRCm39)	splice site	probably benign
IGL03113:Disp2	APN	2	118,621,259 (GRCm39)	splice site	probably null
IGL03194:Disp2	APN	2	118,618,110 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Disp2	UTSW	2	118,618,125 (GRCm39)	missense	probably benign	0.01
R0109:Disp2	UTSW	2	118,622,297 (GRCm39)	missense	probably damaging	1.00
R0126:Disp2	UTSW	2	118,620,819 (GRCm39)	missense	probably damaging	1.00
R0603:Disp2	UTSW	2	118,622,487 (GRCm39)	missense	probably damaging	1.00
R0610:Disp2	UTSW	2	118,622,717 (GRCm39)	missense	probably benign	0.02
R0639:Disp2	UTSW	2	118,621,325 (GRCm39)	missense	possibly damaging	0.74
R0673:Disp2	UTSW	2	118,621,325 (GRCm39)	missense	possibly damaging	0.74
R0755:Disp2	UTSW	2	118,620,243 (GRCm39)	missense	probably benign	0.00
R0781:Disp2	UTSW	2	118,620,920 (GRCm39)	missense	probably damaging	1.00
R1110:Disp2	UTSW	2	118,620,920 (GRCm39)	missense	probably damaging	1.00
R1148:Disp2	UTSW	2	118,636,899 (GRCm39)	critical splice donor site	probably null
R1148:Disp2	UTSW	2	118,636,899 (GRCm39)	critical splice donor site	probably null
R1243:Disp2	UTSW	2	118,622,303 (GRCm39)	missense	probably damaging	1.00
R1587:Disp2	UTSW	2	118,622,064 (GRCm39)	missense	probably damaging	1.00
R1739:Disp2	UTSW	2	118,622,031 (GRCm39)	missense	probably damaging	1.00
R1771:Disp2	UTSW	2	118,621,778 (GRCm39)	nonsense	probably null
R1781:Disp2	UTSW	2	118,623,042 (GRCm39)	missense	probably damaging	0.96
R1918:Disp2	UTSW	2	118,622,408 (GRCm39)	missense	probably benign
R1956:Disp2	UTSW	2	118,622,704 (GRCm39)	missense	probably benign	0.02
R2167:Disp2	UTSW	2	118,622,166 (GRCm39)	missense	probably damaging	1.00
R2206:Disp2	UTSW	2	118,622,725 (GRCm39)	missense	probably benign	0.02
R4031:Disp2	UTSW	2	118,622,361 (GRCm39)	missense	probably benign	0.27
R4617:Disp2	UTSW	2	118,620,643 (GRCm39)	missense	probably benign
R4656:Disp2	UTSW	2	118,621,044 (GRCm39)	missense	probably damaging	1.00
R4684:Disp2	UTSW	2	118,623,237 (GRCm39)	missense	probably damaging	1.00
R4696:Disp2	UTSW	2	118,622,165 (GRCm39)	nonsense	probably null
R4697:Disp2	UTSW	2	118,622,165 (GRCm39)	nonsense	probably null
R4738:Disp2	UTSW	2	118,620,807 (GRCm39)	missense	probably damaging	0.97
R4834:Disp2	UTSW	2	118,622,985 (GRCm39)	missense	probably benign	0.09
R4914:Disp2	UTSW	2	118,620,935 (GRCm39)	missense	probably damaging	0.99
R4915:Disp2	UTSW	2	118,620,935 (GRCm39)	missense	probably damaging	0.99
R4918:Disp2	UTSW	2	118,620,935 (GRCm39)	missense	probably damaging	0.99
R5045:Disp2	UTSW	2	118,622,543 (GRCm39)	missense	probably benign	0.03
R5208:Disp2	UTSW	2	118,622,286 (GRCm39)	missense	probably damaging	1.00
R5303:Disp2	UTSW	2	118,641,329 (GRCm39)	unclassified	probably benign
R5350:Disp2	UTSW	2	118,618,056 (GRCm39)	missense	probably benign	0.23
R5355:Disp2	UTSW	2	118,617,392 (GRCm39)	missense	probably benign	0.00
R6011:Disp2	UTSW	2	118,621,301 (GRCm39)	missense	possibly damaging	0.65
R6031:Disp2	UTSW	2	118,620,275 (GRCm39)	missense	probably benign	0.01
R6031:Disp2	UTSW	2	118,620,275 (GRCm39)	missense	probably benign	0.01
R6139:Disp2	UTSW	2	118,621,143 (GRCm39)	missense	probably damaging	0.97
R6169:Disp2	UTSW	2	118,622,031 (GRCm39)	missense	probably damaging	1.00
R6187:Disp2	UTSW	2	118,622,624 (GRCm39)	missense	probably damaging	1.00
R6209:Disp2	UTSW	2	118,617,402 (GRCm39)	missense	probably damaging	1.00
R6250:Disp2	UTSW	2	118,621,247 (GRCm39)	missense	probably damaging	1.00
R6392:Disp2	UTSW	2	118,621,230 (GRCm39)	missense	probably damaging	1.00
R7138:Disp2	UTSW	2	118,617,361 (GRCm39)	missense	probably benign
R7156:Disp2	UTSW	2	118,622,292 (GRCm39)	missense	probably damaging	1.00
R7230:Disp2	UTSW	2	118,622,286 (GRCm39)	missense	probably damaging	1.00
R7400:Disp2	UTSW	2	118,622,367 (GRCm39)	missense	probably damaging	1.00
R7460:Disp2	UTSW	2	118,620,261 (GRCm39)	missense	probably damaging	1.00
R7505:Disp2	UTSW	2	118,621,569 (GRCm39)	missense	probably damaging	1.00
R7542:Disp2	UTSW	2	118,621,599 (GRCm39)	missense	probably damaging	0.97
R7728:Disp2	UTSW	2	118,621,961 (GRCm39)	missense	probably benign	0.31
R7757:Disp2	UTSW	2	118,621,391 (GRCm39)	missense	probably damaging	1.00
R7798:Disp2	UTSW	2	118,622,360 (GRCm39)	missense	probably benign
R7945:Disp2	UTSW	2	118,623,270 (GRCm39)	missense	probably damaging	1.00
R8013:Disp2	UTSW	2	118,620,163 (GRCm39)	nonsense	probably null
R8085:Disp2	UTSW	2	118,617,452 (GRCm39)	missense	possibly damaging	0.94
R8179:Disp2	UTSW	2	118,623,030 (GRCm39)	missense	probably damaging	0.99
R8288:Disp2	UTSW	2	118,620,762 (GRCm39)	missense	probably damaging	1.00
R8345:Disp2	UTSW	2	118,641,284 (GRCm39)	missense	unknown
R8385:Disp2	UTSW	2	118,620,891 (GRCm39)	missense	probably damaging	1.00
R8700:Disp2	UTSW	2	118,620,340 (GRCm39)	nonsense	probably null
R8808:Disp2	UTSW	2	118,620,489 (GRCm39)	missense	probably damaging	1.00
R8880:Disp2	UTSW	2	118,621,239 (GRCm39)	missense	probably damaging	1.00
R8997:Disp2	UTSW	2	118,617,467 (GRCm39)	missense	probably damaging	1.00
R9022:Disp2	UTSW	2	118,621,179 (GRCm39)	missense	probably benign	0.22
R9181:Disp2	UTSW	2	118,617,393 (GRCm39)	missense	probably benign	0.08
R9660:Disp2	UTSW	2	118,620,627 (GRCm39)	missense	probably benign
Z1177:Disp2	UTSW	2	118,621,308 (GRCm39)	missense	probably damaging	1.00
Z1177:Disp2	UTSW	2	118,620,183 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07