Mutagenetix > Incidental Mutation

Incidental Mutation 'R2271:Disp3'

242459

Institutional Source

Beutler Lab

Gene Symbol

Disp3

Ensembl Gene

ENSMUSG00000041544

Gene Name

dispatched RND transporter family member 3

Synonyms

Ptchd2, G630052C06Rik

MMRRC Submission

040271-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148240264-148287965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 148271602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 267 (R267Q)

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: R267Q

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: R267Q

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,981,579	Q194L	probably damaging	Het
Acsf2	T	A	11: 94,558,873	K574*	probably null	Het
Adam22	T	C	5: 8,121,108	E614G	probably damaging	Het
Ap4e1	T	C	2: 127,047,163		probably null	Het
Arid3c	T	A	4: 41,724,744	I364F	probably damaging	Het
Bcan	T	A	3: 87,993,094	S611C	probably damaging	Het
Birc6	T	C	17: 74,602,971	V1453A	probably benign	Het
Carnmt1	T	C	19: 18,703,370	L336P	probably damaging	Het
Ccdc146	C	A	5: 21,399,721	D40Y	probably benign	Het
Ccdc83	C	T	7: 90,224,077	V357I	probably damaging	Het
Cdh22	A	T	2: 165,143,847		probably null	Het
Cdk5rap2	A	C	4: 70,266,678	S1178R	probably benign	Het
Cdkl3	T	C	11: 52,032,495	V45A	probably benign	Het
Chd7	A	G	4: 8,785,532	D612G	probably damaging	Het
Chst11	T	C	10: 83,191,170	Y144H	probably damaging	Het
Cops6	A	T	5: 138,161,141	N10I	probably benign	Het
Cyfip1	G	T	7: 55,899,957	R624L	probably null	Het
Cyp27a1	A	G	1: 74,736,687	N344D	probably damaging	Het
Des	T	G	1: 75,363,493	M348R	probably damaging	Het
Dis3l	T	A	9: 64,330,883	D109V	probably damaging	Het
Dnah3	T	A	7: 119,975,129	I2136F	probably benign	Het
Dnah9	T	C	11: 66,112,362	D872G	probably benign	Het
Dnajb14	G	A	3: 137,885,380	G31S	probably benign	Het
Dopey1	T	G	9: 86,494,418	V235G	probably damaging	Het
Efcab6	T	A	15: 83,946,999	R571S	probably benign	Het
Emsy	T	G	7: 98,626,623	K352N	probably damaging	Het
Erbb4	T	C	1: 68,198,888	N814S	probably damaging	Het
Fam71e2	T	A	7: 4,758,187	T509S	probably benign	Het
Fgfbp1	T	A	5: 43,979,330	M207L	probably benign	Het
Filip1	T	C	9: 79,819,930	E469G	probably damaging	Het
Garem2	T	G	5: 30,116,974	L777R	probably damaging	Het
Gm8394	A	G	10: 85,313,731		noncoding transcript	Het
Gm884	T	C	11: 103,614,207	T2312A	possibly damaging	Het
Hkdc1	T	C	10: 62,417,898	T35A	probably benign	Het
Hps6	C	T	19: 46,005,682	A686V	possibly damaging	Het
Irs1	T	C	1: 82,288,459	S679G	probably benign	Het
Ism1	T	A	2: 139,757,373	I415N	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,064,088		probably null	Het
Kpna1	G	A	16: 36,031,221	A392T	probably damaging	Het
Lipa	T	A	19: 34,510,890	R119*	probably null	Het
Mocs1	A	T	17: 49,449,109	K198M	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msh5	A	G	17: 35,044,390	I154T	probably benign	Het
Muc6	T	A	7: 141,637,510	T2417S	possibly damaging	Het
Ncbp2	T	C	16: 31,956,951	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,008,347	R359L	probably benign	Het
Neu3	G	C	7: 99,813,443	R358G	probably benign	Het
Ntrk3	A	C	7: 78,516,723		probably null	Het
Olfr1045	A	G	2: 86,197,817	F312L	probably benign	Het
Olfr351	G	A	2: 36,859,625	S241F	probably damaging	Het
Olfr870	T	A	9: 20,171,409	H54L	possibly damaging	Het
Pik3c2b	T	C	1: 133,103,428	S1491P	probably benign	Het
Plb1	G	T	5: 32,293,242	D376Y	probably damaging	Het
Plch1	T	A	3: 63,744,535	K378N	probably damaging	Het
Plekhm1	C	T	11: 103,387,122	E383K	probably benign	Het
Plxnb1	T	C	9: 109,102,708		probably null	Het
Prkdc	A	G	16: 15,654,817		probably null	Het
Prpf8	T	A	11: 75,495,363	V946E	probably damaging	Het
Ptprh	C	A	7: 4,603,133		probably benign	Het
Rngtt	T	A	4: 33,500,302	C565*	probably null	Het
Sacs	A	G	14: 61,204,660	H1385R	probably benign	Het
Sec24a	A	G	11: 51,716,450	S656P	possibly damaging	Het
Serpinb13	A	T	1: 106,999,026	I251L	possibly damaging	Het
Shc1	G	A	3: 89,423,542	G91S	probably damaging	Het
Sin3b	T	A	8: 72,733,419	N211K	probably benign	Het
Slc22a2	A	T	17: 12,586,805	M148L	probably benign	Het
Slc3a1	G	A	17: 85,063,792	V591I	probably benign	Het
Slc47a2	A	T	11: 61,328,526		probably null	Het
Spag17	C	T	3: 100,106,797	P2129S	probably damaging	Het
Specc1l	C	T	10: 75,245,604	S278F	probably damaging	Het
Sphkap	T	A	1: 83,257,221	D1628V	probably damaging	Het
Themis3	C	T	17: 66,555,704	V420I	possibly damaging	Het
Ttc39d	A	G	17: 80,217,246	K445E	probably damaging	Het
U2surp	T	C	9: 95,491,420	E232G	possibly damaging	Het
Usp25	T	A	16: 77,076,429	F458L	probably damaging	Het
Usp7	T	C	16: 8,698,469	S649G	probably benign	Het
Vmn1r10	A	G	6: 57,114,103	T227A	probably damaging	Het
Zcchc12	C	T	X: 36,198,465	T345M	possibly damaging	Het
Zfp444	T	C	7: 6,189,555	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,592,233	C648S	probably damaging	Het
Zfp799	A	G	17: 32,821,803	Y58H	probably damaging	Het
Zfp938	C	T	10: 82,225,547	G413D	probably 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
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
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'- CATCCACAGACATCTTGCATG -3'
(R):5'- GGATTACTCGCGCACCTATG -3'

Sequencing Primer
(F):5'- AGCATAGTACCGTTCCATCAGTGTG -3'
(R):5'- GCACCTATGTGAGCGCCAAC -3'

Posted On

2014-10-16