Mutagenetix > Incidental Mutation

Incidental Mutation 'R5523:Disp3'

431655

Institutional Source

Beutler Lab

Gene Symbol

Disp3

Ensembl Gene

ENSMUSG00000041544

Gene Name

dispatched RND transporter family member 3

Synonyms

G630052C06Rik, Ptchd2

MMRRC Submission

043265-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5523 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

148324721-148372422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148342554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 632 (D632G)

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: D632G

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: D632G

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: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	A	3: 153,644,273 (GRCm39)	T70M	probably benign	Het
Adamtsl3	G	A	7: 82,223,650 (GRCm39)	A218T	possibly damaging	Het
Ahnak2	T	C	12: 112,741,642 (GRCm39)	D810G	probably damaging	Het
Ak7	T	A	12: 105,707,341 (GRCm39)	L315*	probably null	Het
Apoa5	T	C	9: 46,181,887 (GRCm39)	F321S	possibly damaging	Het
Baiap2l1	G	C	5: 144,212,768 (GRCm39)	P416A	probably damaging	Het
Bco1	A	G	8: 117,835,432 (GRCm39)	I128V	possibly damaging	Het
Bpifb2	T	C	2: 153,717,905 (GRCm39)		probably benign	Het
Cdt1	G	A	8: 123,294,832 (GRCm39)	R13H	possibly damaging	Het
Cenpj	A	G	14: 56,789,880 (GRCm39)	V723A	probably benign	Het
Chl1	T	A	6: 103,685,675 (GRCm39)	W849R	probably damaging	Het
Cpne9	A	G	6: 113,267,192 (GRCm39)	D169G	probably damaging	Het
Cyp2d22	A	G	15: 82,256,772 (GRCm39)	V334A	probably damaging	Het
Cyp4f39	C	A	17: 32,689,807 (GRCm39)	N84K	probably benign	Het
Cyp4f40	T	A	17: 32,888,796 (GRCm39)	F192I	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Echs1	G	T	7: 139,692,426 (GRCm39)	T107K	probably benign	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Ergic1	G	A	17: 26,843,580 (GRCm39)	V17I	probably damaging	Het
Fank1	G	T	7: 133,478,569 (GRCm39)	C210F	probably damaging	Het
Fbxo15	T	G	18: 84,978,194 (GRCm39)	M136R	probably damaging	Het
Ggcx	C	A	6: 72,401,017 (GRCm39)	P240H	probably damaging	Het
Gpr179	T	C	11: 97,227,608 (GRCm39)	R1516G	probably benign	Het
Gprin3	G	A	6: 59,330,931 (GRCm39)	Q459*	probably null	Het
Hadha	C	A	5: 30,350,252 (GRCm39)	V99F	possibly damaging	Het
Hirip3	A	G	7: 126,463,034 (GRCm39)	D330G	possibly damaging	Het
Irx2	T	C	13: 72,779,714 (GRCm39)	W333R	probably damaging	Het
Kansl1l	T	C	1: 66,841,271 (GRCm39)	T10A	probably benign	Het
Kcnd2	T	C	6: 21,723,211 (GRCm39)	I467T	probably benign	Het
Klc3	A	T	7: 19,130,932 (GRCm39)	I215N	probably damaging	Het
Kmt2c	A	G	5: 25,504,337 (GRCm39)	V3657A	probably benign	Het
Lin28b	A	T	10: 45,345,164 (GRCm39)	L54*	probably null	Het
Mgll	T	C	6: 88,702,743 (GRCm39)	V14A	probably benign	Het
Mrc2	A	G	11: 105,234,408 (GRCm39)	N976S	probably benign	Het
Myh8	C	A	11: 67,196,788 (GRCm39)	A1807E	possibly damaging	Het
Nalcn	G	A	14: 123,647,155 (GRCm39)	P573S	probably damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Neb	T	C	2: 52,168,827 (GRCm39)	S1903G	probably benign	Het
Nfe2	T	A	15: 103,157,556 (GRCm39)	D145V	probably damaging	Het
Or52a20	T	A	7: 103,366,687 (GRCm39)	Y295*	probably null	Het
Padi1	A	T	4: 140,542,164 (GRCm39)	V586D	probably damaging	Het
Pcdh12	T	C	18: 38,416,192 (GRCm39)	D311G	probably damaging	Het
Pcdha11	A	T	18: 37,145,439 (GRCm39)	H510L	probably damaging	Het
Plcb1	C	A	2: 135,102,486 (GRCm39)	P221H	probably benign	Het
Plekhg2	A	T	7: 28,069,856 (GRCm39)	V58E	probably damaging	Het
Pparg	A	C	6: 115,467,032 (GRCm39)	Q435P	probably damaging	Het
Ppp1r36	A	G	12: 76,484,892 (GRCm39)	T282A	possibly damaging	Het
Prcd	T	C	11: 116,559,110 (GRCm39)		probably benign	Het
Pygo1	A	T	9: 72,852,266 (GRCm39)	H151L	possibly damaging	Het
Rnmt	A	G	18: 68,446,773 (GRCm39)	Y266C	probably benign	Het
Rxrb	T	C	17: 34,255,411 (GRCm39)	V246A	probably damaging	Het
Sart1	A	G	19: 5,433,704 (GRCm39)	S378P	probably damaging	Het
Sema4d	T	C	13: 51,865,390 (GRCm39)	N318S	possibly damaging	Het
Sis	C	T	3: 72,798,754 (GRCm39)	V1765I	probably benign	Het
Slc17a6	A	T	7: 51,276,598 (GRCm39)	K116*	probably null	Het
Smc6	T	A	12: 11,341,540 (GRCm39)	H519Q	probably benign	Het
Sowahc	T	A	10: 59,058,785 (GRCm39)	M307K	probably benign	Het
Sptbn1	A	G	11: 30,087,560 (GRCm39)	Y960H	probably damaging	Het
Tmem270	A	C	5: 134,931,636 (GRCm39)	V102G	probably benign	Het
Tmprss11d	A	G	5: 86,486,729 (GRCm39)	F54L	probably benign	Het
Top1	T	A	2: 160,544,695 (GRCm39)	Y270*	probably null	Het
Trpm2	A	G	10: 77,771,795 (GRCm39)	F615L	probably benign	Het
Ttf2	A	G	3: 100,866,558 (GRCm39)	S525P	probably damaging	Het
Ttn	A	T	2: 76,777,241 (GRCm39)	M1387K	possibly damaging	Het
Upk3bl	A	T	5: 136,088,954 (GRCm39)	R156W	probably damaging	Het
Usp34	G	T	11: 23,299,198 (GRCm39)	R290L	probably benign	Het
Vwf	T	C	6: 125,620,005 (GRCm39)	V1561A		Het
Zan	A	G	5: 137,420,155 (GRCm39)	I2834T	unknown	Het
Zfp105	A	G	9: 122,755,454 (GRCm39)	Y90C	probably benign	Het
Zfp804a	T	C	2: 82,089,339 (GRCm39)	V1056A	probably damaging	Het
Zfp956	A	T	6: 47,930,455 (GRCm39)		probably benign	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
R1495:Disp3	UTSW	4	148,334,282 (GRCm39)	missense	probably benign	0.00
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
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'- TGACACATCTCCCAGCTCTAGG -3'
(R):5'- TGACTGTCCCGACTCTTAGC -3'

Sequencing Primer
(F):5'- AGCTCTAGGGACGCTGC -3'
(R):5'- GACTCTTAGCCTCACGCCTG -3'

Posted On

2016-10-05