Mutagenetix > Incidental Mutation

Incidental Mutation 'R5740:Arrdc5'

444765

Institutional Source

Beutler Lab

Gene Symbol

Arrdc5

Ensembl Gene

ENSMUSG00000073380

Gene Name

arrestin domain containing 5

Synonyms

1700013E09Rik

MMRRC Submission

043196-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5740 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56601111-56607262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56604838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 150 (N150Y)

Ref Sequence

ENSEMBL: ENSMUSP00000094906 (fasta)

Gene Model

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

AlphaFold

Q497K5

Predicted Effect

probably benign
Transcript: ENSMUST00000097303
AA Change: N150Y

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000094906
Gene: ENSMUSG00000073380
AA Change: N150Y

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	A	10: 120,614,413 (GRCm39)		probably benign	Het
Bag1	T	C	4: 40,941,526 (GRCm39)	Q269R	probably null	Het
C7	T	C	15: 5,086,522 (GRCm39)	N40D	probably benign	Het
Ccnt1	T	C	15: 98,442,381 (GRCm39)	I296V	probably benign	Het
Col19a1	C	T	1: 24,376,996 (GRCm39)	G450S	probably damaging	Het
F13a1	T	C	13: 37,082,178 (GRCm39)	T509A	probably benign	Het
Fgg	A	T	3: 82,918,832 (GRCm39)	T282S	probably benign	Het
Fzd7	A	G	1: 59,522,839 (GRCm39)	M241V	probably benign	Het
Gja1	G	A	10: 56,264,285 (GRCm39)	V215M	probably damaging	Het
Golgb1	T	C	16: 36,739,362 (GRCm39)	L2567P	probably damaging	Het
Grik2	T	C	10: 48,989,573 (GRCm39)	N819D	probably damaging	Het
Grik4	C	T	9: 42,719,863 (GRCm39)	R3H	possibly damaging	Het
Hecw2	T	C	1: 53,926,762 (GRCm39)	Y1079C	probably benign	Het
Hivep3	A	G	4: 119,953,220 (GRCm39)	E512G	possibly damaging	Het
Ino80	T	C	2: 119,261,510 (GRCm39)	D718G	probably damaging	Het
Ints10	G	A	8: 69,257,574 (GRCm39)	R258K	probably damaging	Het
Jak2	A	G	19: 29,239,824 (GRCm39)	K73E	possibly damaging	Het
Lrba	A	G	3: 86,235,649 (GRCm39)	I918V	probably damaging	Het
M1ap	T	C	6: 82,958,903 (GRCm39)	V178A	probably damaging	Het
Mcub	A	T	3: 129,712,374 (GRCm39)	M167K	probably benign	Het
Mgat4c	A	T	10: 102,225,182 (GRCm39)	K465N	possibly damaging	Het
Naip1	T	A	13: 100,569,009 (GRCm39)		probably null	Het
Ncbp3	T	A	11: 72,944,323 (GRCm39)	N108K	possibly damaging	Het
Npepps	A	T	11: 97,126,894 (GRCm39)	D455E	possibly damaging	Het
Or5b101	T	C	19: 13,004,926 (GRCm39)	M256V	probably benign	Het
Pan2	G	A	10: 128,144,033 (GRCm39)	G128S	probably damaging	Het
Ppp3cb	A	T	14: 20,551,664 (GRCm39)	I489N	possibly damaging	Het
Sdccag8	A	G	1: 176,658,716 (GRCm39)	T134A	probably benign	Het
Sh3tc1	T	C	5: 35,864,399 (GRCm39)	E596G	probably benign	Het
Shank1	T	C	7: 44,003,164 (GRCm39)	S1619P	possibly damaging	Het
Slc46a3	A	T	5: 147,816,643 (GRCm39)	C387*	probably null	Het
Slc5a5	G	T	8: 71,341,561 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,721,718 (GRCm39)		probably benign	Het
Vangl1	T	C	3: 102,091,450 (GRCm39)	D212G	probably damaging	Het
Vmn1r52	T	A	6: 90,156,176 (GRCm39)	I160N	probably benign	Het
Vmn2r118	C	T	17: 55,900,103 (GRCm39)	M600I	probably benign	Het
Vmn2r7	T	C	3: 64,614,654 (GRCm39)	I387V	probably benign	Het
Zfp369	A	G	13: 65,444,581 (GRCm39)	R575G	probably benign	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
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
R8878:Arrdc5	UTSW	17	56,601,342 (GRCm39)	missense	probably benign	0.00
Z1176:Arrdc5	UTSW	17	56,607,189 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGCCCAGGTCTCACCATG -3'
(R):5'- ACTTACAGATAATTGGTTAAGGGCAGG -3'

Sequencing Primer
(F):5'- CAAAGCGCTGGAGTTGATTC -3'
(R):5'- AGGCAGCCACACCTTTG -3'

Posted On

2016-11-21