Mutagenetix > Incidental Mutation

Incidental Mutation 'R7211:Disp3'

561054

Institutional Source

Beutler Lab

Gene Symbol

Disp3

Ensembl Gene

ENSMUSG00000041544

Gene Name

dispatched RND transporter family member 3

Synonyms

Ptchd2, G630052C06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148240264-148287965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 148241522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1260 (V1260F)

Ref Sequence

ENSEMBL: ENSMUSP00000038490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047720]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047720
AA Change: V1260F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: V1260F

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC
low complexity region	159	171	N/A	INTRINSIC
low complexity region	179	195	N/A	INTRINSIC
Pfam:Patched	362	735	2.2e-21	PFAM
Pfam:MMPL	366	590	3.1e-14	PFAM
Pfam:Sterol-sensing	435	588	1.1e-17	PFAM
Pfam:Patched	1121	1301	1.6e-7	PFAM
transmembrane domain	1314	1333	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	G	T	9: 51,290,433	Q108K	probably damaging	Het
9930021J03Rik	A	G	19: 29,786,312	F121S		Het
a	T	A	2: 155,045,779	V53E	probably damaging	Het
A1cf	A	G	19: 31,927,141	Y268C	probably benign	Het
Adamts13	C	T	2: 26,989,298	T621I	probably benign	Het
AI464131	A	G	4: 41,498,028	I534T	probably damaging	Het
Akr1b7	A	T	6: 34,421,114	N293Y	probably benign	Het
Angpt2	T	A	8: 18,741,131	T50S	probably benign	Het
Anks1b	C	A	10: 90,511,070	A744D	possibly damaging	Het
Aqr	A	G	2: 114,134,723	V587A	probably benign	Het
Atm	A	G	9: 53,488,560	V1540A	probably benign	Het
BC022687	T	A	12: 112,811,012		probably null	Het
C4b	A	G	17: 34,735,534	V887A	possibly damaging	Het
Cd200r1	A	G	16: 44,788,757	T26A	probably benign	Het
Ciao1	A	G	2: 127,247,008		probably null	Het
Clca3a2	A	G	3: 144,814,014	C200R	probably benign	Het
Col6a5	T	A	9: 105,928,164	Q1181L	unknown	Het
Copb2	T	A	9: 98,574,145	I244N	probably damaging	Het
Cpb2	A	G	14: 75,274,990	Y281C	probably damaging	Het
Dnajc2	C	T	5: 21,776,779	R123Q	probably damaging	Het
Dpysl2	T	C	14: 66,829,976	N162S	probably damaging	Het
Dsp	T	A	13: 38,188,535		probably null	Het
Edc4	T	A	8: 105,886,309		probably null	Het
Epm2a	T	C	10: 11,343,675	Y69H	probably benign	Het
Frzb	C	A	2: 80,418,325	E262*	probably null	Het
Gaa	T	C	11: 119,284,204	V877A	possibly damaging	Het
Gm11639	C	A	11: 104,710,713	A284D	probably benign	Het
Gm11639	G	T	11: 104,724,609		probably null	Het
Gm5346	T	A	8: 43,625,877	S437C	probably damaging	Het
Gpnmb	T	C	6: 49,052,015	I489T	possibly damaging	Het
Gpr31b	T	C	17: 13,052,217	T22A	probably benign	Het
Gys1	T	A	7: 45,448,260	F477Y	possibly damaging	Het
Hoxc11	A	C	15: 102,955,052	E176A	possibly damaging	Het
Kcnk13	T	A	12: 100,061,817	F384I	probably damaging	Het
Ky	A	G	9: 102,509,150	E59G	probably benign	Het
Lama4	T	A	10: 39,005,495	D93E	probably damaging	Het
Lrrc23	A	T	6: 124,778,189	N128K	probably benign	Het
Lrrc71	G	T	3: 87,743,326	Q210K	possibly damaging	Het
Map1a	G	A	2: 121,304,643	R1980H	probably benign	Het
Med15	T	C	16: 17,698,113	D15G	unknown	Het
Mfng	A	T	15: 78,773,068	S69T	probably benign	Het
Muc16	T	G	9: 18,498,570	S181R	probably damaging	Het
Mug1	A	T	6: 121,880,539	Q1074L	possibly damaging	Het
Nbea	T	A	3: 56,004,901	N1155I	probably benign	Het
Nbeal1	T	G	1: 60,200,951	L159V	probably damaging	Het
Nudt1	C	A	5: 140,337,647	P118Q	possibly damaging	Het
Olfr450	A	T	6: 42,818,016	T182S	probably benign	Het
Olfr970	A	C	9: 39,819,858	Q73P	possibly damaging	Het
Pcdhga6	T	A	18: 37,709,120	V631D	probably benign	Het
Pcna	A	C	2: 132,249,872	V203G	probably damaging	Het
Pgf	G	T	12: 85,175,775	N33K	probably benign	Het
Pgm1	T	C	5: 64,105,850	L280P	probably damaging	Het
Plcg1	G	A	2: 160,731,874	A20T	probably benign	Het
Prdx5	G	T	19: 6,907,590	D126E	probably damaging	Het
Prkag2	T	C	5: 24,995,298	T20A	probably benign	Het
Prr14l	T	A	5: 32,830,087	Q688L	probably damaging	Het
Pxdn	T	G	12: 29,984,904	D253E	possibly damaging	Het
Rbm18	A	T	2: 36,122,893	C53*	probably null	Het
Rprm	A	T	2: 54,085,258	L16Q	probably benign	Het
Saysd1	A	G	14: 20,077,508	F116S	probably damaging	Het
Scg3	A	G	9: 75,682,084	S96P	probably benign	Het
Scgb1b3	C	T	7: 31,375,653	L16F	unknown	Het
Sh3tc2	A	G	18: 61,989,403	T412A	probably benign	Het
Skint6	T	C	4: 113,238,369	N31S	probably benign	Het
Slc22a2	T	C	17: 12,586,883		probably null	Het
Slc8a2	C	T	7: 16,140,613	T262I	possibly damaging	Het
Smarcc1	A	T	9: 110,150,014	K188N	probably damaging	Het
Taf6	T	C	5: 138,178,826	T660A	possibly damaging	Het
Tbx2	C	T	11: 85,834,714	R164C	probably damaging	Het
Tec	T	C	5: 72,782,012	D220G	probably null	Het
Tfec	A	T	6: 16,867,465	W59R	probably damaging	Het
Tmtc2	G	T	10: 105,573,726	S8R	probably benign	Het
Tmtc3	A	T	10: 100,447,605	M696K	probably benign	Het
Trpc3	A	T	3: 36,640,733	S691T	possibly damaging	Het
Ttf2	A	T	3: 100,959,307	M503K	probably benign	Het
Ttll7	A	G	3: 146,913,276	H312R	probably damaging	Het
Ttn	T	C	2: 76,767,688	Y19627C	probably damaging	Het
Ugt2b35	T	C	5: 87,001,318	S143P	probably benign	Het
Usp53	A	G	3: 122,957,650	S253P	probably damaging	Het
Utp18	A	G	11: 93,885,380	V93A	probably benign	Het
Utrn	T	C	10: 12,401,335	N3413D	possibly damaging	Het
Zhx1	T	C	15: 58,053,251	D533G	possibly damaging	Het

Other mutations in Disp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Disp3	APN	4	148241534	missense	probably benign	0.10
IGL01065:Disp3	APN	4	148261183	missense	probably damaging	1.00
IGL01800:Disp3	APN	4	148249801	nonsense	probably null
IGL01947:Disp3	APN	4	148260519	missense	probably damaging	1.00
IGL02510:Disp3	APN	4	148252701	missense	probably benign	0.00
IGL02573:Disp3	APN	4	148271449	missense	probably damaging	1.00
IGL02728:Disp3	APN	4	148272038	missense	probably damaging	1.00
IGL02931:Disp3	APN	4	148249201	missense	possibly damaging	0.94
R0164:Disp3	UTSW	4	148254251	missense	probably damaging	0.96
R0164:Disp3	UTSW	4	148254251	missense	probably damaging	0.96
R0257:Disp3	UTSW	4	148250754	missense	possibly damaging	0.87
R0409:Disp3	UTSW	4	148271959	missense	probably damaging	1.00
R0557:Disp3	UTSW	4	148241404	missense	possibly damaging	0.64
R0576:Disp3	UTSW	4	148241590	missense	possibly damaging	0.89
R1495:Disp3	UTSW	4	148249825	missense	probably benign	0.00
R1526:Disp3	UTSW	4	148259916	missense	probably benign	0.00
R1791:Disp3	UTSW	4	148241518	missense	probably damaging	1.00
R1856:Disp3	UTSW	4	148271632	missense	probably damaging	1.00
R1987:Disp3	UTSW	4	148258753	missense	probably damaging	0.97
R2030:Disp3	UTSW	4	148259966	missense	probably damaging	1.00
R2271:Disp3	UTSW	4	148271602	missense	possibly damaging	0.87
R2373:Disp3	UTSW	4	148258795	missense	probably damaging	1.00
R2566:Disp3	UTSW	4	148241423	missense	probably damaging	1.00
R3731:Disp3	UTSW	4	148252827	missense	probably benign	0.03
R4359:Disp3	UTSW	4	148271932	missense	probably benign	0.03
R4762:Disp3	UTSW	4	148272118	missense	probably damaging	1.00
R4950:Disp3	UTSW	4	148258126	missense	possibly damaging	0.94
R4975:Disp3	UTSW	4	148244216	missense	possibly damaging	0.79
R5218:Disp3	UTSW	4	148242876	missense	possibly damaging	0.88
R5523:Disp3	UTSW	4	148258097	missense	probably benign	0.14
R5556:Disp3	UTSW	4	148258157	missense	probably benign	0.14
R5857:Disp3	UTSW	4	148249183	missense	probably benign	0.01
R5933:Disp3	UTSW	4	148241313	nonsense	probably null
R5994:Disp3	UTSW	4	148254284	missense	possibly damaging	0.94
R6362:Disp3	UTSW	4	148254308	missense	possibly damaging	0.95
R6813:Disp3	UTSW	4	148259930	missense	probably benign	0.09
R7470:Disp3	UTSW	4	148261070	missense	possibly damaging	0.88
R7535:Disp3	UTSW	4	148242866	missense	probably damaging	0.99
R8093:Disp3	UTSW	4	148270516	missense	possibly damaging	0.93
R8357:Disp3	UTSW	4	148261115	missense	possibly damaging	0.86
R8457:Disp3	UTSW	4	148261115	missense	possibly damaging	0.86
R8506:Disp3	UTSW	4	148241570	missense	possibly damaging	0.77
R9182:Disp3	UTSW	4	148270384	missense	probably damaging	1.00
R9219:Disp3	UTSW	4	148249860	missense	possibly damaging	0.74
R9680:Disp3	UTSW	4	148271644	missense	probably damaging	1.00
R9696:Disp3	UTSW	4	148261154	missense	probably damaging	0.97
Z1088:Disp3	UTSW	4	148271743	missense	possibly damaging	0.63
Z1176:Disp3	UTSW	4	148250957	missense	probably damaging	1.00
Z1177:Disp3	UTSW	4	148249746	missense	probably damaging	1.00
Z1177:Disp3	UTSW	4	148249847	missense	probably benign	0.01
Z1177:Disp3	UTSW	4	148250714	missense	probably damaging	1.00
Z1177:Disp3	UTSW	4	148270567	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACCCAGGGCCTTAAGAAAG -3'
(R):5'- TATCAGCATGGGATGGGAGC -3'

Sequencing Primer
(F):5'- AGGAAGTCCTGGTCCGG -3'
(R):5'- AGCAGTATACGCTGGTGTACC -3'

Posted On

2019-06-26