Mutagenetix > Incidental Mutation

Incidental Mutation 'R7470:Disp3'

579106

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 #

R7470 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148240264-148287965 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148261070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 438 (C438S)

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: C438S

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: C438S

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: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	T	9: 55,991,338	V238E	possibly damaging	Het
Actn3	G	A	19: 4,867,814	S375L	possibly damaging	Het
Adgrg6	T	C	10: 14,444,066	T476A	probably benign	Het
Afm	T	A	5: 90,531,627	S327T	probably damaging	Het
Apol7e	T	A	15: 77,717,943	M247K	probably benign	Het
Aqp12	T	A	1: 93,008,663	L237Q	probably damaging	Het
Arhgef12	A	T	9: 43,040,552	S63T	probably damaging	Het
Axdnd1	T	A	1: 156,376,516	E393V		Het
Cacna1g	T	A	11: 94,461,939	D365V	possibly damaging	Het
Ccdc3	T	A	2: 5,138,304	V124E	possibly damaging	Het
Ccr7	C	T	11: 99,145,557	V180M	possibly damaging	Het
Cd47	T	A	16: 49,884,222	I119K		Het
Cenpe	A	T	3: 135,242,155	L1158F	probably damaging	Het
Cfi	A	G	3: 129,855,087	R207G	probably benign	Het
Cyp2j6	T	C	4: 96,535,471	Y220C	probably benign	Het
Ddhd2	A	G	8: 25,735,060	F577L	probably benign	Het
Dhx40	T	C	11: 86,776,702	E537G	probably damaging	Het
Dock3	A	G	9: 107,005,445	S380P	probably damaging	Het
Ehmt2	A	G	17: 34,899,396	E106G	possibly damaging	Het
Fmnl2	A	T	2: 53,042,365	I119F	probably damaging	Het
Gm11554	A	C	11: 99,804,364	S8A	unknown	Het
Gm9268	T	A	7: 43,047,886	M789K	probably damaging	Het
Grm7	A	G	6: 111,501,515	I54V		Het
Hbs1l	T	C	10: 21,358,784	F579L	possibly damaging	Het
Hgf	C	A	5: 16,618,856	Q684K	probably benign	Het
Igsf3	T	C	3: 101,451,075	Y741H	possibly damaging	Het
Il17rb	C	A	14: 29,998,033	G304W	probably damaging	Het
Ino80c	C	T	18: 24,108,838	W163*	probably null	Het
Kcnt1	A	C	2: 25,909,833	D997A	probably damaging	Het
Klf7	C	T	1: 64,042,313		probably null	Het
Lingo1	T	C	9: 56,620,624	Y233C	probably damaging	Het
Lmo7	C	A	14: 101,900,604	T914K	possibly damaging	Het
Mark1	G	T	1: 184,928,044	Y138*	probably null	Het
Mcm3ap	C	A	10: 76,508,397	T1791K	probably damaging	Het
Mcts2	T	C	2: 152,687,662	I131T	probably benign	Het
Mipep	A	G	14: 60,802,895	D288G	probably benign	Het
Ms4a8a	T	A	19: 11,076,350	N131Y	possibly damaging	Het
Nalcn	T	C	14: 123,572,044	E232G	probably benign	Het
Nat10	C	T	2: 103,734,881	A452T	probably benign	Het
Nfatc2	G	A	2: 168,523,307	Q596*	probably null	Het
Nudt13	G	T	14: 20,309,723	G173W	probably damaging	Het
Olfr1	T	A	11: 73,395,888	I45F	probably damaging	Het
Olfr1157	A	T	2: 87,962,449	C148S	possibly damaging	Het
Olfr148	C	A	9: 39,613,702	T45K	probably benign	Het
Olfr878	T	A	9: 37,919,296	I213N	probably damaging	Het
Otud4	T	C	8: 79,673,360	V901A	probably benign	Het
Pah	G	A	10: 87,563,424	R155Q	probably damaging	Het
Pkd1l3	A	G	8: 109,638,376	H1130R	probably benign	Het
Pnliprp1	A	G	19: 58,732,025	N111S	possibly damaging	Het
Ppp1r21	T	C	17: 88,562,221	Y401H	probably damaging	Het
Prr14	A	G	7: 127,475,825	K466R	probably null	Het
Ralgapa2	A	G	2: 146,424,667	L663P	probably damaging	Het
Reg3d	A	T	6: 78,376,088	C171S	possibly damaging	Het
Reln	G	T	5: 21,942,741	L2404I	probably damaging	Het
Rnasel	A	C	1: 153,754,031	I98L	probably benign	Het
Rnf216	T	C	5: 142,992,725	D886G	possibly damaging	Het
Rp1l1	A	G	14: 64,028,566	R534G	probably benign	Het
Selenon	A	C	4: 134,539,750	S514A	probably benign	Het
Sema3d	T	A	5: 12,508,185	I228N	probably damaging	Het
Serpinb9g	T	A	13: 33,486,634	I35N	probably damaging	Het
Siglec1	A	C	2: 131,075,824	H1044Q	probably benign	Het
Skint5	T	A	4: 113,756,931	I693F	unknown	Het
Skint5	G	T	4: 113,885,803	L370M	unknown	Het
Slc12a1	G	A	2: 125,217,895	W905*	probably null	Het
Slc26a9	G	C	1: 131,764,043	V675L	probably benign	Het
Slc5a7	A	T	17: 54,276,962	Y433*	probably null	Het
Slc7a4	A	G	16: 17,575,113	I274T	probably benign	Het
Slmap	A	G	14: 26,427,420	V612A	probably benign	Het
Spen	T	C	4: 141,479,294	D674G	unknown	Het
Ssh1	T	C	5: 113,942,427	T981A	possibly damaging	Het
Sycp2l	T	C	13: 41,163,104	S180P	probably benign	Het
Tdrd7	C	A	4: 45,990,144	S181R	probably benign	Het
Thada	T	C	17: 84,226,041	N1661D	probably benign	Het
Tsga13	C	A	6: 30,900,046	D179Y	possibly damaging	Het
Ttf2	T	G	3: 100,963,162	Q198H	possibly damaging	Het
Ugt2b37	T	G	5: 87,254,112	Y220S	probably benign	Het
Unc79	C	T	12: 103,094,976	T1145I	probably damaging	Het
Unc80	T	A	1: 66,622,462	M1682K	probably benign	Het
Vcp	A	G	4: 42,982,891	S652P	probably damaging	Het
Wrnip1	T	A	13: 32,816,327	L439*	probably null	Het
Zfhx2	A	G	14: 55,066,750	I1259T	possibly damaging	Het
Zfp369	A	T	13: 65,292,146	T215S	probably benign	Het
Zfp64	A	T	2: 168,925,811	V627E	probably damaging	Het
Zfp873	T	C	10: 82,059,939	I168T	probably benign	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
R7211:Disp3	UTSW	4	148241522	missense	probably damaging	0.98
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'- GCTCTTGAATGATTCACAACGG -3'
(R):5'- GCATCAAGTGTCCACAGTCATC -3'

Sequencing Primer
(F):5'- ACGGTCTAAAAATATCCCAGGC -3'
(R):5'- AAGTGTCCACAGTCATCTTTAATCC -3'

Posted On

2019-10-07