Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Disp3'

168771

Institutional Source

Beutler Lab

Gene Symbol

Disp3

Ensembl Gene

ENSMUSG00000041544

Gene Name

dispatched RND transporter family member 3

Synonyms

G630052C06Rik, Ptchd2

MMRRC Submission

039546-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1495 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

148324721-148372422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148334282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1004 (I1004V)

Ref Sequence

ENSEMBL: ENSMUSP00000038490 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047720
AA Change: I1004V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: I1004V

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: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,614,356 (GRCm39)	N488S	probably benign	Het
Acot10	G	A	15: 20,665,593 (GRCm39)	R383C	probably damaging	Het
Acsm2	A	G	7: 119,177,349 (GRCm39)	D263G	probably damaging	Het
Adcy2	G	T	13: 68,944,654 (GRCm39)	Q243K	probably benign	Het
Aggf1	G	A	13: 95,492,921 (GRCm39)	R563*	probably null	Het
Agt	A	G	8: 125,286,194 (GRCm39)	F296S	probably damaging	Het
Akap14	T	C	X: 36,427,618 (GRCm39)	D39G	possibly damaging	Het
Akt3	T	C	1: 176,930,608 (GRCm39)	M117V	probably benign	Het
Ankar	T	C	1: 72,682,450 (GRCm39)	T1154A	probably benign	Het
Arvcf	T	A	16: 18,207,251 (GRCm39)	L70Q	probably damaging	Het
Ccdc171	A	T	4: 83,599,332 (GRCm39)	K724*	probably null	Het
Ccdc91	A	G	6: 147,435,670 (GRCm39)	T85A	possibly damaging	Het
Ccdc9b	T	G	2: 118,591,013 (GRCm39)	K173N	probably damaging	Het
Cdh3	C	T	8: 107,265,629 (GRCm39)	T224I	probably damaging	Het
Clstn3	T	C	6: 124,426,876 (GRCm39)	I482V	probably benign	Het
Cnot9	A	G	1: 74,562,759 (GRCm39)	E176G	probably damaging	Het
Cntnap4	T	G	8: 113,608,395 (GRCm39)	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,869,605 (GRCm39)	M1K	probably null	Het
Cyp2c23	A	G	19: 43,993,947 (GRCm39)	I473T	probably benign	Het
Dbil5	T	A	11: 76,109,276 (GRCm39)	M60K	probably benign	Het
Defa38	T	A	8: 21,585,217 (GRCm39)	Q75L	probably benign	Het
Dgkg	A	T	16: 22,319,129 (GRCm39)	L644Q	probably damaging	Het
Egf	T	A	3: 129,506,655 (GRCm39)	I599F	probably damaging	Het
Epc2	A	G	2: 49,426,675 (GRCm39)	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Extl3	A	T	14: 65,313,316 (GRCm39)	V622E	probably benign	Het
Fam227a	C	T	15: 79,510,446 (GRCm39)	V403I	probably benign	Het
Fat2	T	A	11: 55,153,499 (GRCm39)	D3571V	probably benign	Het
Fcho2	A	G	13: 98,886,358 (GRCm39)		probably null	Het
Fras1	A	G	5: 96,676,445 (GRCm39)	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,366,832 (GRCm39)	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,045,771 (GRCm39)	N113S	probably damaging	Het
Glg1	T	C	8: 111,924,307 (GRCm39)	Y227C	probably damaging	Het
Gm5141	A	T	13: 62,922,084 (GRCm39)	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,504,533 (GRCm39)	T104S	probably benign	Het
Jph1	A	C	1: 17,161,876 (GRCm39)	V262G	probably benign	Het
Kank1	C	G	19: 25,387,713 (GRCm39)	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,704,325 (GRCm39)	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,482,308 (GRCm39)		probably benign	Het
Lyzl1	G	T	18: 4,181,192 (GRCm39)	W77L	probably null	Het
Nipbl	T	G	15: 8,380,764 (GRCm39)	N676T	probably benign	Het
Obscn	C	T	11: 58,970,986 (GRCm39)	S2300N	probably damaging	Het
Or9a2	T	G	6: 41,748,837 (GRCm39)	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,891,896 (GRCm39)	M350L	probably benign	Het
Pecam1	T	C	11: 106,579,682 (GRCm39)	D460G	probably damaging	Het
Pik3c2a	T	A	7: 115,987,300 (GRCm39)	K540N	probably benign	Het
Prdm12	T	A	2: 31,530,205 (GRCm39)	I32N	probably damaging	Het
Prkd1	T	C	12: 50,413,135 (GRCm39)	S679G	probably damaging	Het
Psen2	C	T	1: 180,056,419 (GRCm39)	A393T	probably damaging	Het
Ptprh	T	A	7: 4,583,888 (GRCm39)	T235S	probably benign	Het
Ranbp3	C	T	17: 57,012,527 (GRCm39)	P182L	probably benign	Het
Serpinb7	A	T	1: 107,379,390 (GRCm39)	K266*	probably null	Het
Sesn3	T	C	9: 14,219,817 (GRCm39)	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,184,535 (GRCm39)	M818T	probably damaging	Het
Slc25a53	C	A	X: 135,916,084 (GRCm39)	C4F	unknown	Het
Snx1	T	A	9: 66,003,879 (GRCm39)	L255F	probably benign	Het
Sptbn2	T	G	19: 4,769,004 (GRCm39)	S46A	possibly damaging	Het
Taf4	A	G	2: 179,574,820 (GRCm39)	F595S	probably damaging	Het
Tec	A	T	5: 72,944,098 (GRCm39)	V103E	probably damaging	Het
Tmco5b	T	C	2: 113,121,136 (GRCm39)	S147P	possibly damaging	Het
Uchl5	C	T	1: 143,675,675 (GRCm39)	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994 (GRCm39)	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385 (GRCm39)	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 56,980,058 (GRCm39)	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,476,728 (GRCm39)	Y473*	probably null	Het
Zyg11b	G	A	4: 108,123,410 (GRCm39)	P186S	probably damaging	Het

Other mutations in Disp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Disp3	APN	4	148,325,991 (GRCm39)	missense	probably benign	0.10
IGL01065:Disp3	APN	4	148,345,640 (GRCm39)	missense	probably damaging	1.00
IGL01800:Disp3	APN	4	148,334,258 (GRCm39)	nonsense	probably null
IGL01947:Disp3	APN	4	148,344,976 (GRCm39)	missense	probably damaging	1.00
IGL02510:Disp3	APN	4	148,337,158 (GRCm39)	missense	probably benign	0.00
IGL02573:Disp3	APN	4	148,355,906 (GRCm39)	missense	probably damaging	1.00
IGL02728:Disp3	APN	4	148,356,495 (GRCm39)	missense	probably damaging	1.00
IGL02931:Disp3	APN	4	148,333,658 (GRCm39)	missense	possibly damaging	0.94
R0164:Disp3	UTSW	4	148,338,708 (GRCm39)	missense	probably damaging	0.96
R0164:Disp3	UTSW	4	148,338,708 (GRCm39)	missense	probably damaging	0.96
R0257:Disp3	UTSW	4	148,335,211 (GRCm39)	missense	possibly damaging	0.87
R0409:Disp3	UTSW	4	148,356,416 (GRCm39)	missense	probably damaging	1.00
R0557:Disp3	UTSW	4	148,325,861 (GRCm39)	missense	possibly damaging	0.64
R0576:Disp3	UTSW	4	148,326,047 (GRCm39)	missense	possibly damaging	0.89
R1526:Disp3	UTSW	4	148,344,373 (GRCm39)	missense	probably benign	0.00
R1791:Disp3	UTSW	4	148,325,975 (GRCm39)	missense	probably damaging	1.00
R1856:Disp3	UTSW	4	148,356,089 (GRCm39)	missense	probably damaging	1.00
R1987:Disp3	UTSW	4	148,343,210 (GRCm39)	missense	probably damaging	0.97
R2030:Disp3	UTSW	4	148,344,423 (GRCm39)	missense	probably damaging	1.00
R2271:Disp3	UTSW	4	148,356,059 (GRCm39)	missense	possibly damaging	0.87
R2373:Disp3	UTSW	4	148,343,252 (GRCm39)	missense	probably damaging	1.00
R2566:Disp3	UTSW	4	148,325,880 (GRCm39)	missense	probably damaging	1.00
R3731:Disp3	UTSW	4	148,337,284 (GRCm39)	missense	probably benign	0.03
R4359:Disp3	UTSW	4	148,356,389 (GRCm39)	missense	probably benign	0.03
R4762:Disp3	UTSW	4	148,356,575 (GRCm39)	missense	probably damaging	1.00
R4950:Disp3	UTSW	4	148,342,583 (GRCm39)	missense	possibly damaging	0.94
R4975:Disp3	UTSW	4	148,328,673 (GRCm39)	missense	possibly damaging	0.79
R5218:Disp3	UTSW	4	148,327,333 (GRCm39)	missense	possibly damaging	0.88
R5523:Disp3	UTSW	4	148,342,554 (GRCm39)	missense	probably benign	0.14
R5556:Disp3	UTSW	4	148,342,614 (GRCm39)	missense	probably benign	0.14
R5857:Disp3	UTSW	4	148,333,640 (GRCm39)	missense	probably benign	0.01
R5933:Disp3	UTSW	4	148,325,770 (GRCm39)	nonsense	probably null
R5994:Disp3	UTSW	4	148,338,741 (GRCm39)	missense	possibly damaging	0.94
R6362:Disp3	UTSW	4	148,338,765 (GRCm39)	missense	possibly damaging	0.95
R6813:Disp3	UTSW	4	148,344,387 (GRCm39)	missense	probably benign	0.09
R7211:Disp3	UTSW	4	148,325,979 (GRCm39)	missense	probably damaging	0.98
R7470:Disp3	UTSW	4	148,345,527 (GRCm39)	missense	possibly damaging	0.88
R7535:Disp3	UTSW	4	148,327,323 (GRCm39)	missense	probably damaging	0.99
R8093:Disp3	UTSW	4	148,354,973 (GRCm39)	missense	possibly damaging	0.93
R8357:Disp3	UTSW	4	148,345,572 (GRCm39)	missense	possibly damaging	0.86
R8457:Disp3	UTSW	4	148,345,572 (GRCm39)	missense	possibly damaging	0.86
R8506:Disp3	UTSW	4	148,326,027 (GRCm39)	missense	possibly damaging	0.77
R9182:Disp3	UTSW	4	148,354,841 (GRCm39)	missense	probably damaging	1.00
R9219:Disp3	UTSW	4	148,334,317 (GRCm39)	missense	possibly damaging	0.74
R9680:Disp3	UTSW	4	148,356,101 (GRCm39)	missense	probably damaging	1.00
R9696:Disp3	UTSW	4	148,345,611 (GRCm39)	missense	probably damaging	0.97
Z1088:Disp3	UTSW	4	148,356,200 (GRCm39)	missense	possibly damaging	0.63
Z1176:Disp3	UTSW	4	148,335,414 (GRCm39)	missense	probably damaging	1.00
Z1177:Disp3	UTSW	4	148,335,171 (GRCm39)	missense	probably damaging	1.00
Z1177:Disp3	UTSW	4	148,334,304 (GRCm39)	missense	probably benign	0.01
Z1177:Disp3	UTSW	4	148,334,203 (GRCm39)	missense	probably damaging	1.00
Z1177:Disp3	UTSW	4	148,355,024 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTATGGGCACACCCCAGTACAGAC -3'
(R):5'- AAGCTATTACCGGAGCAGAGGCAC -3'

Sequencing Primer
(F):5'- CACCCAAACTCTAGGCACATATTATC -3'
(R):5'- GCCGAGCAAAGGGACTC -3'

Posted On

2014-04-13