Mutagenetix > Incidental Mutation

Incidental Mutation 'R2373:Disp3'

248200

Institutional Source

Beutler Lab

Gene Symbol

Disp3

Ensembl Gene

ENSMUSG00000041544

Gene Name

dispatched RND transporter family member 3

Synonyms

Ptchd2, G630052C06Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148240264-148287965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148258795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 553 (V553A)

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: V553A

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

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: V553A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143851

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
9130023H24Rik	A	T	7: 128,237,315	D35E	probably benign	Het
9330159F19Rik	A	G	10: 29,225,043	N471D	probably benign	Het
Ahctf1	A	T	1: 179,795,796	F86I	probably damaging	Het
Alpk1	T	C	3: 127,679,808	T849A	probably benign	Het
Arfgef1	A	T	1: 10,174,142	D965E	probably damaging	Het
Asxl1	A	G	2: 153,401,900	T1458A	probably benign	Het
Cdc42bpa	A	T	1: 180,111,784	M876L	possibly damaging	Het
Celsr3	G	A	9: 108,842,552	R2450H	probably benign	Het
Col12a1	A	T	9: 79,656,813	V1710E	probably benign	Het
Corin	G	A	5: 72,339,038	S524L	probably damaging	Het
Dennd2c	A	G	3: 103,156,842	H658R	probably damaging	Het
Dpm2	T	C	2: 32,572,445	F81S	probably benign	Het
Emc2	T	A	15: 43,513,758	I239N	probably damaging	Het
Fam160a1	C	T	3: 85,676,097	W464*	probably null	Het
Fzd5	C	T	1: 64,734,907	G565D	probably damaging	Het
Gpld1	T	C	13: 24,962,856	F267S	probably benign	Het
Kif14	C	A	1: 136,479,845	A46E	probably damaging	Het
Mta3	G	T	17: 83,784,301	E179*	probably null	Het
Ninl	T	G	2: 150,980,117	T22P	probably damaging	Het
Pcnx2	T	C	8: 125,753,451	N2039S	probably damaging	Het
Rc3h2	A	G	2: 37,379,001	S818P	possibly damaging	Het
Scn11a	T	A	9: 119,813,186	E162D	probably benign	Het
Slc5a7	A	T	17: 54,277,126	W379R	probably damaging	Het
Sptb	C	T	12: 76,621,161	V721M	probably damaging	Het
Vmn1r82	T	A	7: 12,305,055	V85E	probably damaging	Het
Vmn2r93	T	A	17: 18,298,403	F41L	probably benign	Het
Vmn2r-ps130	T	C	17: 23,061,506	I47T	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
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
R7211:Disp3	UTSW	4	148241522	missense	probably damaging	0.98
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'- ACATGCGACTACACTGCTG -3'
(R):5'- GGTGCTGTTGTCCTGGAAAC -3'

Sequencing Primer
(F):5'- TGCTGGACAAGAGCTTTCC -3'
(R):5'- GAAACTGTTCCTACGTCAGTCGG -3'

Posted On

2014-11-11