Mutagenetix > Incidental Mutation

Incidental Mutation 'R8385:Disp2'

647097

Institutional Source

Beutler Lab

Gene Symbol

Disp2

Ensembl Gene

ENSMUSG00000040035

Gene Name

dispatched RND transporter family member 2

Synonyms

B230210L08Rik, DispB

MMRRC Submission

067751-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.896) question?

Stock #

R8385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118610183-118625656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118620891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 541 (M541K)

Ref Sequence

ENSEMBL: ENSMUSP00000037136 (fasta)

Gene Model

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

AlphaFold

Q8CIP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000037547
AA Change: M541K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037136
Gene: ENSMUSG00000040035
AA Change: M541K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brap	C	T	5: 121,823,197 (GRCm39)	T473I	probably benign	Het
Cacna1e	T	A	1: 154,319,687 (GRCm39)	M1400L	probably damaging	Het
Catsper2	A	G	2: 121,240,621 (GRCm39)	I127T	possibly damaging	Het
Dbt	A	T	3: 116,317,039 (GRCm39)	I72F	probably damaging	Het
Ddhd2	T	C	8: 26,225,041 (GRCm39)	H592R	probably damaging	Het
Dnai7	C	T	6: 145,120,918 (GRCm39)	E685K	probably damaging	Het
Dnmbp	T	C	19: 43,878,090 (GRCm39)	D327G	probably benign	Het
Dvl1	A	G	4: 155,940,037 (GRCm39)	S390G	possibly damaging	Het
Fbxo22	A	G	9: 55,121,233 (GRCm39)	D106G	probably damaging	Het
Gfm2	A	G	13: 97,301,519 (GRCm39)	T441A	probably benign	Het
Gm5431	T	C	11: 48,780,347 (GRCm39)	I192V	probably damaging	Het
Gosr1	T	A	11: 76,620,967 (GRCm39)	T241S	possibly damaging	Het
Hk2	T	C	6: 82,706,527 (GRCm39)	S792G	probably benign	Het
Itsn1	A	C	16: 91,690,699 (GRCm39)	K1302Q	unknown	Het
Kif16b	T	C	2: 142,554,258 (GRCm39)	K847E	probably benign	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Mark3	A	G	12: 111,621,808 (GRCm39)	D650G	possibly damaging	Het
Mgat4f	A	G	1: 134,318,376 (GRCm39)	K383E	probably benign	Het
Mob3b	T	C	4: 34,985,980 (GRCm39)	Y186C	probably damaging	Het
Mphosph9	T	C	5: 124,450,785 (GRCm39)	K329E	probably benign	Het
Mta1	A	T	12: 113,095,085 (GRCm39)	M448L	probably benign	Het
Mterf1a	A	T	5: 3,941,384 (GRCm39)	N161K	probably damaging	Het
Myo10	T	A	15: 25,804,484 (GRCm39)	I1593N	probably damaging	Het
Naca	A	G	10: 127,878,307 (GRCm39)	N1113S	unknown	Het
Or2w4	T	C	13: 21,795,522 (GRCm39)	I206V	probably benign	Het
Or5e1	T	G	7: 108,354,511 (GRCm39)	Y149*	probably null	Het
Pcdhga1	A	T	18: 37,795,149 (GRCm39)	D51V	probably damaging	Het
Peg3	T	C	7: 6,711,082 (GRCm39)	E1380G	probably damaging	Het
Pkd1	G	A	17: 24,794,702 (GRCm39)	V2130M	possibly damaging	Het
Pla2g4c	C	T	7: 13,063,589 (GRCm39)	P19S	probably benign	Het
Popdc2	G	A	16: 38,183,262 (GRCm39)	V82I	probably benign	Het
Ppfibp2	A	G	7: 107,296,894 (GRCm39)	R203G	probably benign	Het
Rab19	T	A	6: 39,360,892 (GRCm39)	N13K	probably benign	Het
Raet1d	T	A	10: 22,246,817 (GRCm39)	D48E	probably benign	Het
Rell1	T	A	5: 64,087,861 (GRCm39)	K136*	probably null	Het
Slc38a4	A	G	15: 96,897,393 (GRCm39)	I474T	probably damaging	Het
Slf1	T	C	13: 77,254,109 (GRCm39)	M243V	probably benign	Het
Spata31f1a	C	T	4: 42,850,509 (GRCm39)	R549H	possibly damaging	Het
Speer4c2	A	T	5: 15,857,669 (GRCm39)	S203T	unknown	Het
Spg11	A	T	2: 121,927,802 (GRCm39)	S661T	probably benign	Het
Thra	C	G	11: 98,659,177 (GRCm39)	S435R	probably benign	Het
Tmem181a	T	C	17: 6,339,274 (GRCm39)	I61T	probably benign	Het
Ttpa	G	A	4: 20,028,483 (GRCm39)	G247S	probably damaging	Het
Usp17lb	C	T	7: 104,489,830 (GRCm39)	V366I	possibly damaging	Het
Vit	A	T	17: 78,927,066 (GRCm39)	Q337L	probably benign	Het
Vmn2r102	A	G	17: 19,914,088 (GRCm39)	Y551C	possibly damaging	Het
Vps52	T	C	17: 34,181,791 (GRCm39)	L539P	probably damaging	Het
Ythdc1	C	A	5: 86,975,961 (GRCm39)	P529T	possibly damaging	Het
Zdhhc13	T	C	7: 48,455,444 (GRCm39)		probably null	Het
Zfp282	A	T	6: 47,882,023 (GRCm39)	Y570F	possibly damaging	Het
Zfp872	A	T	9: 22,111,407 (GRCm39)	K295N	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATGTCACTTCTAGGGGTGCTG -3'
(R):5'- TGAGCCAAGTAGCGCTCATG -3'

Sequencing Primer
(F):5'- GCTCCCTAATGGTGGCCTAC -3'
(R):5'- TGGAGCACCACGGTGGC -3'

Posted On

2020-09-02