Mutagenetix > Incidental Mutation

Incidental Mutation 'R9696:Disp3'

729273

Institutional Source

Beutler Lab

Gene Symbol

Disp3

Ensembl Gene

ENSMUSG00000041544

Gene Name

dispatched RND transporter family member 3

Synonyms

G630052C06Rik, Ptchd2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148324721-148372422 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 148345611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 410 (V410L)

Ref Sequence

ENSEMBL: ENSMUSP00000038490 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047720
AA Change: V410L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038490
Gene: ENSMUSG00000041544
AA Change: V410L

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: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,691,256 (GRCm39)	D105G	possibly damaging	Het
4930407I10Rik	A	G	15: 81,949,697 (GRCm39)	N1198S	probably benign	Het
Abca14	A	T	7: 119,888,734 (GRCm39)	I1227F	possibly damaging	Het
Abhd10	T	C	16: 45,552,042 (GRCm39)	D277G	probably damaging	Het
Adam20	A	G	8: 41,249,633 (GRCm39)	N581S	probably damaging	Het
Apbb1ip	A	T	2: 22,725,989 (GRCm39)	T254S	probably benign	Het
Arap3	T	C	18: 38,112,905 (GRCm39)	T1102A	probably damaging	Het
Asb16	A	T	11: 102,159,766 (GRCm39)	R40W	probably damaging	Het
Birc6	T	A	17: 74,947,292 (GRCm39)	S3019T	probably damaging	Het
Btbd18	T	A	2: 84,497,854 (GRCm39)	C497*	probably null	Het
Cacna1h	T	C	17: 25,602,215 (GRCm39)	M1542V	possibly damaging	Het
Ccdc8	T	G	7: 16,730,087 (GRCm39)	S525R	unknown	Het
Ch25h	G	A	19: 34,451,947 (GRCm39)	R194W	probably damaging	Het
Ciapin1	C	A	8: 95,555,065 (GRCm39)	L130F	probably damaging	Het
Cnfn	G	T	7: 25,067,515 (GRCm39)	T54N	probably damaging	Het
Cop1	A	T	1: 159,076,783 (GRCm39)	I195F	probably damaging	Het
Daam1	A	G	12: 71,991,147 (GRCm39)	R254G	unknown	Het
Dcaf13	T	C	15: 39,001,496 (GRCm39)	M268T	possibly damaging	Het
Dus4l	A	T	12: 31,696,647 (GRCm39)	I110K	probably damaging	Het
Endov	C	T	11: 119,398,048 (GRCm39)	P271L	probably damaging	Het
Epha2	A	G	4: 141,047,834 (GRCm39)	I539V	probably benign	Het
Ercc4	A	T	16: 12,950,810 (GRCm39)	I635L	probably damaging	Het
Exosc10	A	G	4: 148,649,704 (GRCm39)	D378G	probably damaging	Het
Fmnl1	A	G	11: 103,086,297 (GRCm39)	D804G	unknown	Het
Gm11983	T	A	11: 6,787,020 (GRCm39)	I36F	unknown	Het
Gm11992	A	T	11: 9,006,438 (GRCm39)	I123L	probably benign	Het
Gm19965	T	C	1: 116,730,838 (GRCm39)		probably benign	Het
Gm19965	A	G	1: 116,749,210 (GRCm39)	D297G		Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gse1	T	C	8: 120,956,280 (GRCm39)	V257A	unknown	Het
Haus1	A	T	18: 77,847,202 (GRCm39)	S225T	probably benign	Het
Hgf	A	G	5: 16,777,534 (GRCm39)	Y177C	probably damaging	Het
Insig1	T	C	5: 28,279,546 (GRCm39)	W184R	probably damaging	Het
Krt5	A	T	15: 101,616,141 (GRCm39)	S491R	unknown	Het
Lcn5	A	G	2: 25,550,142 (GRCm39)	I110V	probably benign	Het
Lin9	A	T	1: 180,496,733 (GRCm39)	S341C	possibly damaging	Het
Magi2	C	T	5: 20,670,864 (GRCm39)	H403Y	probably benign	Het
Mapk1ip1l	C	T	14: 47,548,340 (GRCm39)	P163S	probably damaging	Het
Mbtd1	A	G	11: 93,823,218 (GRCm39)	D568G	probably damaging	Het
Mdp1	A	G	14: 55,896,704 (GRCm39)	V119A	probably benign	Het
Me1	A	G	9: 86,469,047 (GRCm39)	I506T	probably damaging	Het
Med1	A	G	11: 98,061,772 (GRCm39)		probably null	Het
Med25	T	A	7: 44,529,524 (GRCm39)	Q656L	probably benign	Het
Memo1	A	C	17: 74,524,041 (GRCm39)	I213S	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mpi	T	C	9: 57,452,539 (GRCm39)	D331G	probably benign	Het
Muc4	T	C	16: 32,574,712 (GRCm39)	I1054T	probably benign	Het
Nat10	T	C	2: 103,556,040 (GRCm39)	E927G	possibly damaging	Het
Nlrp9a	T	C	7: 26,275,033 (GRCm39)	L930P	unknown	Het
Nt5c3b	A	T	11: 100,323,811 (GRCm39)	I167N	probably damaging	Het
Ogdh	T	C	11: 6,289,209 (GRCm39)	S308P	probably damaging	Het
Or2y1b	A	G	11: 49,208,390 (GRCm39)	I6V	probably benign	Het
Or4c108	T	G	2: 88,803,615 (GRCm39)	I207L	probably benign	Het
Or52e5	T	A	7: 104,719,283 (GRCm39)	V203D	probably damaging	Het
Or8b9	G	A	9: 37,766,671 (GRCm39)	E186K	probably benign	Het
Parl	A	G	16: 20,105,690 (GRCm39)	V244A	probably benign	Het
Parp14	G	T	16: 35,661,252 (GRCm39)	D1565E	probably damaging	Het
Parp14	T	C	16: 35,661,251 (GRCm39)	K1566E	possibly damaging	Het
Pcdhb18	T	A	18: 37,623,606 (GRCm39)	I312K	possibly damaging	Het
Pcnp	A	T	16: 55,844,867 (GRCm39)		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Rab10	T	A	12: 3,306,947 (GRCm39)	M83L	probably benign	Het
Rabep1	A	G	11: 70,814,029 (GRCm39)	S616G	probably benign	Het
Rnf213	G	A	11: 119,359,806 (GRCm39)	V4400M		Het
Samd9l	T	A	6: 3,375,078 (GRCm39)	I728F	possibly damaging	Het
Scaf4	T	A	16: 90,044,122 (GRCm39)	D620V	unknown	Het
Scnn1b	A	T	7: 121,498,462 (GRCm39)	M1L	probably damaging	Het
Sec23b	T	A	2: 144,428,343 (GRCm39)	M652K	probably benign	Het
Selenoi	T	C	5: 30,453,413 (GRCm39)	F44L	probably benign	Het
Slc36a3	A	T	11: 55,026,161 (GRCm39)	V219E	possibly damaging	Het
Sncaip	A	T	18: 53,038,915 (GRCm39)	Q543L	probably damaging	Het
Stmnd1	A	G	13: 46,443,224 (GRCm39)	I119V	probably damaging	Het
Strn3	T	A	12: 51,676,286 (GRCm39)	E414D	probably damaging	Het
Syne1	T	A	10: 5,297,847 (GRCm39)	H1150L	probably benign	Het
Tdrd7	A	G	4: 46,016,888 (GRCm39)	N676S	possibly damaging	Het
Tgs1	A	T	4: 3,575,071 (GRCm39)	I16F	possibly damaging	Het
Thnsl2	T	G	6: 71,108,930 (GRCm39)	T294P	possibly damaging	Het
Tmem156	A	G	5: 65,231,147 (GRCm39)	I241T	possibly damaging	Het
Unc13a	A	T	8: 72,082,197 (GRCm39)	M1689K	possibly damaging	Het
Uri1	T	C	7: 37,664,738 (GRCm39)	D318G	probably benign	Het
Vmn2r86	T	A	10: 130,285,702 (GRCm39)	Q491L	possibly damaging	Het
Vps13b	C	A	15: 35,675,033 (GRCm39)	Q1718K	possibly 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
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
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
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'- TATCCCAGCATCCTTGAACAGG -3'
(R):5'- TCGCTGATTACTATCTGTGTCG -3'

Sequencing Primer
(F):5'- ATCCTTGAACAGGCCGGTGTG -3'
(R):5'- TACACGTTGAATCACCTGGG -3'

Posted On

2022-10-06