Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03194:Disp2'

412750

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: 0.896) question?

Stock #

IGL03194

Quality Score

Status

Chromosome

Chromosomal Location

118610183-118625656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118618110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 219 (R219W)

Ref Sequence

ENSEMBL: ENSMUSP00000106470 (fasta)

Gene Model

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

AlphaFold

Q8CIP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000037547
AA Change: R219W

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

SMART Domains

Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: R219W

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 damaging
Transcript: ENSMUST00000063975
AA Change: R219W

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

SMART Domains

Protein: ENSMUSP00000070031
Gene: ENSMUSG00000040035
AA Change: R219W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110843
AA Change: R219W

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

SMART Domains

Protein: ENSMUSP00000106467
Gene: ENSMUSG00000040035
AA Change: R219W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110846
AA Change: R219W

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

SMART Domains

Protein: ENSMUSP00000106470
Gene: ENSMUSG00000040035
AA Change: R219W

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 84,460,647 (GRCm39)	S64G	possibly damaging	Het
Clcn7	T	C	17: 25,369,522 (GRCm39)	V306A	probably damaging	Het
Clec4b2	G	A	6: 123,177,946 (GRCm39)	G87D	probably benign	Het
Dnaaf11	A	T	15: 66,314,048 (GRCm39)	D317E	probably benign	Het
Dstyk	A	T	1: 132,384,054 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,302,240 (GRCm39)	S451G	possibly damaging	Het
Fat2	T	A	11: 55,201,821 (GRCm39)	T418S	probably benign	Het
Fto	G	A	8: 92,136,415 (GRCm39)	D228N	probably damaging	Het
Gins4	A	T	8: 23,724,762 (GRCm39)		probably benign	Het
Gm10220	T	A	5: 26,326,231 (GRCm39)	R40W	probably damaging	Het
Gm11149	G	A	9: 49,457,646 (GRCm39)		probably benign	Het
Gm5431	T	G	11: 48,786,364 (GRCm39)		probably benign	Het
Hebp1	A	G	6: 135,132,190 (GRCm39)	M59T	probably benign	Het
Lrp1	A	T	10: 127,404,554 (GRCm39)	V1989D	probably damaging	Het
Ltc4s	T	C	11: 50,127,398 (GRCm39)	*151W	probably null	Het
Map3k21	A	G	8: 126,650,801 (GRCm39)	T268A	possibly damaging	Het
Mdp1	A	G	14: 55,896,444 (GRCm39)	L164P	probably damaging	Het
Mroh4	T	C	15: 74,483,388 (GRCm39)	T650A	probably damaging	Het
Mss51	T	C	14: 20,535,165 (GRCm39)	N202D	probably benign	Het
Mtus2	G	A	5: 148,043,913 (GRCm39)	A834T	probably damaging	Het
Nalf1	T	C	8: 9,282,975 (GRCm39)	D358G	probably damaging	Het
Ncoa6	A	G	2: 155,257,788 (GRCm39)	M585T	possibly damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Npvf	A	C	6: 50,627,878 (GRCm39)	D180E	possibly damaging	Het
Nup188	A	T	2: 30,194,346 (GRCm39)	Y173F	possibly damaging	Het
Oas3	C	A	5: 120,897,018 (GRCm39)	A868S	probably damaging	Het
Pkhd1l1	A	G	15: 44,381,531 (GRCm39)	T1086A	probably damaging	Het
Pla2g6	G	A	15: 79,201,985 (GRCm39)	P62L	probably damaging	Het
Rara	T	C	11: 98,862,490 (GRCm39)	M297T	possibly damaging	Het
Tmc1	T	C	19: 20,782,017 (GRCm39)	E567G	probably damaging	Het
Tnxb	C	T	17: 34,914,921 (GRCm39)	Q1970*	probably null	Het
Usp11	T	C	X: 20,578,656 (GRCm39)	I162T	probably benign	Het
Utrn	A	G	10: 12,282,173 (GRCm39)		probably benign	Het
Zfhx3	A	G	8: 109,521,359 (GRCm39)	E827G	probably damaging	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
IGL02069:Disp2	APN	2	118,621,161 (GRCm39)	missense	possibly damaging	0.93
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
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

2016-08-02