Mutagenetix > Incidental Mutation

Incidental Mutation 'R5218:Disp3'

403592

Institutional Source

Beutler Lab

Gene Symbol

Disp3

Ensembl Gene

ENSMUSG00000041544

Gene Name

dispatched RND transporter family member 3

Synonyms

Ptchd2, G630052C06Rik

MMRRC Submission

042791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148240264-148287965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148242876 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1184 (S1184G)

Ref Sequence

ENSEMBL: ENSMUSP00000038490 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047720
AA Change: S1184G

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: S1184G

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

Meta Mutation Damage Score

0.0847

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810011H11Rik	T	A	14: 32,816,836		probably null	Het
4921524L21Rik	T	A	18: 6,629,628	N230K	possibly damaging	Het
4933428M09Rik	G	T	X: 139,179,533	G16*	probably null	Het
5830473C10Rik	A	G	5: 90,581,918	K400R	probably benign	Het
Amigo1	A	G	3: 108,187,770		probably null	Het
Arhgap30	A	T	1: 171,408,760	T901S	probably benign	Het
Arpp21	T	C	9: 112,143,431	D264G	probably damaging	Het
Ccbe1	C	T	18: 66,083,158	G165S	probably damaging	Het
Celsr1	T	C	15: 85,932,384	D1786G	probably damaging	Het
Cntn1	T	C	15: 92,339,549	L1008P	unknown	Het
Dclk2	T	A	3: 86,805,678	D489V	probably damaging	Het
Dip2b	T	A	15: 100,154,296	D259E	probably benign	Het
Dync1li2	C	T	8: 104,442,547	W36*	probably null	Het
Ece2	A	T	16: 20,618,540	M211L	probably benign	Het
Edn3	C	T	2: 174,761,552	A31V	probably benign	Het
Enpp2	T	C	15: 54,887,586	Q266R	possibly damaging	Het
Fabp1	C	A	6: 71,199,960	Q12K	probably damaging	Het
Flt1	G	A	5: 147,681,928	T199M	probably damaging	Het
Galns	T	A	8: 122,598,589	I275F	probably damaging	Het
Gapvd1	T	C	2: 34,728,476	D295G	probably benign	Het
Gatb	A	G	3: 85,604,444	I169V	probably benign	Het
Gpd1	T	A	15: 99,720,130	I109N	probably damaging	Het
Gps2	T	C	11: 69,916,295		probably null	Het
Hsd17b12	T	C	2: 94,083,263	N99D	probably benign	Het
Itga3	A	T	11: 95,062,748	V256E	probably benign	Het
Kcnma1	T	A	14: 23,463,185	Y527F	probably damaging	Het
Lamc1	C	A	1: 153,227,696	V1375L	probably damaging	Het
Lrp1	C	A	10: 127,548,619	E3580D	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,327,311		probably benign	Het
Medag	A	T	5: 149,422,254		probably benign	Het
Ncdn	C	A	4: 126,750,810	R73L	probably benign	Het
Nr4a1	T	C	15: 101,272,153	V339A	probably benign	Het
Ocln	G	T	13: 100,506,314	P420Q	probably damaging	Het
Olfr206	A	T	16: 59,344,907	S265T	probably benign	Het
Pank4	C	T	4: 154,979,728	T681I	probably benign	Het
Pcdhb6	T	A	18: 37,334,335	V103E	possibly damaging	Het
Pcsk6	T	C	7: 66,025,288	F469S	probably benign	Het
Phrf1	A	G	7: 141,261,301	N1353S	possibly damaging	Het
Pou6f2	A	G	13: 18,152,001	I72T	probably damaging	Het
Ppig	T	C	2: 69,732,783		probably benign	Het
Ptprh	T	C	7: 4,597,920	S153G	probably benign	Het
Rab11b	T	C	17: 33,748,950	N91S	probably benign	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Slc2a9	A	G	5: 38,453,181	S92P	probably damaging	Het
Slit3	G	A	11: 35,684,175		probably null	Het
Sox5	T	C	6: 143,960,890	I280V	possibly damaging	Het
Stam2	G	A	2: 52,736,293		probably benign	Het
Tdrd9	C	T	12: 112,063,475		probably benign	Het
Tmem74	A	T	15: 43,867,244	N134K	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Txnl1	T	G	18: 63,679,467	K85N	probably benign	Het
Vmn2r77	T	A	7: 86,802,133	M409K	probably damaging	Het
Wipf1	T	C	2: 73,444,468	D53G	probably damaging	Het
Wnt10a	G	A	1: 74,793,595	V116I	probably benign	Het
Xpot	T	A	10: 121,619,138	D33V	probably damaging	Het
Znrf3	C	T	11: 5,281,519	V665M	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
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'- TGTCCATCTGTCCTTAGGGG -3'
(R):5'- GGCATCCTGTAGGTGTGACATG -3'

Sequencing Primer
(F):5'- TGCCATTGTCCCAAGGTG -3'
(R):5'- ACATGTTGCTGTGTCTGCGTTC -3'

Posted On

2016-07-22