Mutagenetix > Incidental Mutation

Incidental Mutation 'R8878:Arrdc5'

676732

Institutional Source

Beutler Lab

Gene Symbol

Arrdc5

Ensembl Gene

ENSMUSG00000073380

Gene Name

arrestin domain containing 5

Synonyms

1700013E09Rik

MMRRC Submission

068746-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8878 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56601111-56607262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56601342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 261 (L261P)

Ref Sequence

ENSEMBL: ENSMUSP00000094906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019726] [ENSMUST00000097303]

AlphaFold

Q497K5

Predicted Effect

probably benign
Transcript: ENSMUST00000019726

SMART Domains

Protein: ENSMUSP00000019726
Gene: ENSMUSG00000024197

Domain	Start	End	E-Value	Type
Pfam:Perilipin	19	415	1.5e-166	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097303
AA Change: L261P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000094906
Gene: ENSMUSG00000073380
AA Change: L261P

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	7	144	3.3e-21	PFAM
Arrestin_C	170	307	7.47e-19	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	C	A	2: 155,398,324 (GRCm39)	H348Q	probably benign	Het
Ago1	T	A	4: 126,357,516 (GRCm39)	Y53F	probably benign	Het
Asb2	C	A	12: 103,290,138 (GRCm39)	W551L	possibly damaging	Het
Atl2	T	C	17: 80,160,232 (GRCm39)	I452V	probably benign	Het
Atxn7l3	T	C	11: 102,183,545 (GRCm39)	S203G	probably benign	Het
Bche	A	G	3: 73,608,506 (GRCm39)	F307L	probably benign	Het
C6	T	C	15: 4,826,454 (GRCm39)	V679A	probably benign	Het
Cd163	A	T	6: 124,297,469 (GRCm39)	N872Y	probably damaging	Het
Cdkal1	C	A	13: 29,658,607 (GRCm39)	V380F	probably damaging	Het
Ceacam11	A	T	7: 17,709,536 (GRCm39)	I245L	probably benign	Het
Ceacam16	G	T	7: 19,592,656 (GRCm39)	T84K	possibly damaging	Het
Ceacam2	T	A	7: 25,227,351 (GRCm39)	Q172L	probably benign	Het
Chga	T	G	12: 102,527,720 (GRCm39)	S125A	possibly damaging	Het
Col9a1	T	C	1: 24,236,048 (GRCm39)		probably null	Het
Crybg3	C	A	16: 59,380,547 (GRCm39)	A236S	probably benign	Het
Csmd1	A	G	8: 15,960,528 (GRCm39)	Y3296H	probably damaging	Het
Cyp2j8	C	A	4: 96,358,807 (GRCm39)	V371L	possibly damaging	Het
Des	C	A	1: 75,337,137 (GRCm39)	L26M	unknown	Het
Edc3	A	G	9: 57,623,484 (GRCm39)	S140G	possibly damaging	Het
Fam161a	C	T	11: 22,970,092 (GRCm39)	T90I	probably benign	Het
Fancm	T	C	12: 65,173,522 (GRCm39)	Y1945H	probably damaging	Het
Fbn2	C	T	18: 58,257,318 (GRCm39)	V350I	probably benign	Het
Git2	A	G	5: 114,899,649 (GRCm39)	C235R	possibly damaging	Het
Gk2	T	C	5: 97,604,341 (GRCm39)	K166E	probably benign	Het
Gm12258	G	A	11: 58,750,112 (GRCm39)	R429H	unknown	Het
Gm7247	T	G	14: 51,666,210 (GRCm39)		probably benign	Het
Gmppa	A	G	1: 75,414,932 (GRCm39)	Y59C	probably damaging	Het
Has1	G	T	17: 18,070,321 (GRCm39)	A200E	possibly damaging	Het
Hbs1l	T	C	10: 21,234,711 (GRCm39)	I588T	possibly damaging	Het
Helz2	A	G	2: 180,874,560 (GRCm39)	V1978A	possibly damaging	Het
Hoxb9	T	C	11: 96,165,557 (GRCm39)	Y209H	probably damaging	Het
Hps5	T	C	7: 46,421,345 (GRCm39)	D706G	probably benign	Het
Hydin	T	C	8: 111,035,720 (GRCm39)	V137A	probably benign	Het
Ifngr2	T	C	16: 91,359,847 (GRCm39)	I318T	probably benign	Het
Iqgap3	C	T	3: 88,020,532 (GRCm39)	T1290I	probably damaging	Het
Jrk	A	T	15: 74,578,988 (GRCm39)	V99E	probably benign	Het
Kalrn	G	A	16: 34,025,696 (GRCm39)	T931M	probably damaging	Het
Kalrn	G	A	16: 34,018,830 (GRCm39)	P1311S	probably benign	Het
Kirrel3	A	G	9: 34,850,561 (GRCm39)		probably benign	Het
Klk1b9	T	C	7: 43,443,782 (GRCm39)	F99L	possibly damaging	Het
Lamb3	T	C	1: 193,013,124 (GRCm39)	C450R	probably damaging	Het
Lyst	T	A	13: 13,815,661 (GRCm39)	S1182T	probably benign	Het
Map1a	T	C	2: 121,138,125 (GRCm39)	V2933A	probably damaging	Het
Map2k5	A	T	9: 63,250,667 (GRCm39)		probably null	Het
Mcm6	A	G	1: 128,283,248 (GRCm39)		probably null	Het
Mmp17	G	A	5: 129,683,378 (GRCm39)	V505M	probably damaging	Het
Mpped2	A	G	2: 106,575,065 (GRCm39)	D50G	probably damaging	Het
Mtf1	T	A	4: 124,715,023 (GRCm39)	L216*	probably null	Het
Niban2	A	T	2: 32,811,105 (GRCm39)	M372L	probably benign	Het
Obscn	T	C	11: 58,890,638 (GRCm39)	E7298G	unknown	Het
Or52ab7	A	T	7: 102,978,212 (GRCm39)	H173L	possibly damaging	Het
Or56a3	T	C	7: 104,735,763 (GRCm39)	L280P	probably damaging	Het
Or6c205	T	C	10: 129,086,883 (GRCm39)	L160P	probably benign	Het
Or7d9	A	G	9: 20,197,358 (GRCm39)	D129G	probably damaging	Het
Otulinl	T	A	15: 27,664,884 (GRCm39)	H24L	probably benign	Het
Pax2	G	A	19: 44,777,215 (GRCm39)		probably null	Het
Pcnt	T	A	10: 76,244,675 (GRCm39)	E1135V	probably damaging	Het
Pgap3	A	T	11: 98,281,924 (GRCm39)	V129D	probably benign	Het
Polq	A	G	16: 36,860,869 (GRCm39)	N497S	probably benign	Het
Ppfia4	T	C	1: 134,227,122 (GRCm39)	T1138A		Het
Prickle4	A	G	17: 48,001,587 (GRCm39)	L32P		Het
Prl2c2	C	T	13: 13,171,896 (GRCm39)	G158R	probably damaging	Het
Psd3	A	G	8: 68,210,750 (GRCm39)	I752T	probably benign	Het
Sag	A	T	1: 87,756,158 (GRCm39)	Y255F	probably benign	Het
Scn7a	A	T	2: 66,506,199 (GRCm39)	D1563E	probably damaging	Het
Secisbp2	A	G	13: 51,837,404 (GRCm39)	N855S	probably benign	Het
Setd2	T	C	9: 110,421,467 (GRCm39)	V2011A	probably benign	Het
Slc30a6	T	C	17: 74,730,112 (GRCm39)	V334A	probably damaging	Het
Spen	A	G	4: 141,204,520 (GRCm39)	V1369A	unknown	Het
Stac2	T	C	11: 97,932,373 (GRCm39)	T207A	probably benign	Het
Syne2	T	C	12: 75,952,067 (GRCm39)	V445A	probably benign	Het
Tas2r131	C	A	6: 132,934,467 (GRCm39)	W114L	probably damaging	Het
Tgfbrap1	G	A	1: 43,088,959 (GRCm39)	R815*	probably null	Het
Trpv2	A	T	11: 62,481,112 (GRCm39)	I404L	probably benign	Het
Zfp236	G	A	18: 82,617,122 (GRCm39)	T1791M	probably damaging	Het

Other mutations in Arrdc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Arrdc5	APN	17	56,601,262 (GRCm39)	missense	probably damaging	1.00
IGL01830:Arrdc5	APN	17	56,601,652 (GRCm39)	missense	probably damaging	0.99
IGL01861:Arrdc5	APN	17	56,607,144 (GRCm39)	missense	possibly damaging	0.78
IGL02210:Arrdc5	APN	17	56,607,026 (GRCm39)	missense	probably damaging	1.00
IGL03379:Arrdc5	APN	17	56,601,589 (GRCm39)	nonsense	probably null
R0256:Arrdc5	UTSW	17	56,601,382 (GRCm39)	missense	probably damaging	0.99
R0638:Arrdc5	UTSW	17	56,607,020 (GRCm39)	missense	possibly damaging	0.94
R1491:Arrdc5	UTSW	17	56,601,222 (GRCm39)	missense	probably damaging	0.99
R1672:Arrdc5	UTSW	17	56,607,144 (GRCm39)	missense	possibly damaging	0.78
R2094:Arrdc5	UTSW	17	56,604,856 (GRCm39)	missense	probably benign	0.44
R4326:Arrdc5	UTSW	17	56,601,420 (GRCm39)	missense	possibly damaging	0.92
R4327:Arrdc5	UTSW	17	56,601,420 (GRCm39)	missense	possibly damaging	0.92
R5254:Arrdc5	UTSW	17	56,604,897 (GRCm39)	missense	probably benign	0.19
R5363:Arrdc5	UTSW	17	56,607,138 (GRCm39)	missense	probably damaging	0.99
R5610:Arrdc5	UTSW	17	56,604,846 (GRCm39)	missense	probably benign
R5740:Arrdc5	UTSW	17	56,604,838 (GRCm39)	missense	probably benign	0.39
R6054:Arrdc5	UTSW	17	56,601,420 (GRCm39)	missense	possibly damaging	0.92
R7101:Arrdc5	UTSW	17	56,601,522 (GRCm39)	missense	probably damaging	1.00
R7439:Arrdc5	UTSW	17	56,604,931 (GRCm39)	missense	probably benign	0.05
Z1176:Arrdc5	UTSW	17	56,607,189 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATATGGTCCTCATATGGCAGC -3'
(R):5'- TGACATTCACATCAGAGATCCG -3'

Sequencing Primer
(F):5'- TCATATGGCAGCTCATCCAG -3'
(R):5'- TCACACGGGCAAGTACATC -3'

Posted On

2021-07-15