Mutagenetix > Incidental Mutation

Incidental Mutation 'R7827:Arrdc2'

602254

Institutional Source

Beutler Lab

Gene Symbol

Arrdc2

Ensembl Gene

ENSMUSG00000002910

Gene Name

arrestin domain containing 2

Synonyms

4632416I05Rik

MMRRC Submission

045881-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7827 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71287773-71292364 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71292038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 3 (F3Y)

Ref Sequence

ENSEMBL: ENSMUSP00000002989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002989] [ENSMUST00000110078] [ENSMUST00000110081] [ENSMUST00000212086] [ENSMUST00000212243] [ENSMUST00000212405] [ENSMUST00000212509] [ENSMUST00000212611]

AlphaFold

Q9D668

Predicted Effect

probably damaging
Transcript: ENSMUST00000002989
AA Change: F3Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002989
Gene: ENSMUSG00000002910
AA Change: F3Y

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	9	158	2.9e-43	PFAM
Arrestin_C	180	307	2.14e-28	SMART
low complexity region	311	322	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110078

SMART Domains

Protein: ENSMUSP00000105705
Gene: ENSMUSG00000002908

Domain	Start	End	E-Value	Type
low complexity region	63	76	N/A	INTRINSIC
Pfam:SK_channel	90	208	3.7e-59	PFAM
low complexity region	234	245	N/A	INTRINSIC
Pfam:Ion_trans_2	275	369	9.6e-16	PFAM
CaMBD	382	461	1.99e-46	SMART
low complexity region	467	487	N/A	INTRINSIC
low complexity region	507	516	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110081

SMART Domains

Protein: ENSMUSP00000105708
Gene: ENSMUSG00000002908

Domain	Start	End	E-Value	Type
low complexity region	63	76	N/A	INTRINSIC
Pfam:SK_channel	90	203	4.9e-51	PFAM
low complexity region	234	245	N/A	INTRINSIC
Pfam:Ion_trans_2	274	368	1.7e-15	PFAM
CaMBD	382	462	3.71e-46	SMART
low complexity region	468	488	N/A	INTRINSIC
low complexity region	508	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212086

Predicted Effect

probably benign
Transcript: ENSMUST00000212243

Predicted Effect

probably benign
Transcript: ENSMUST00000212405

Predicted Effect

probably benign
Transcript: ENSMUST00000212509

Predicted Effect

probably benign
Transcript: ENSMUST00000212611

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,651,112 (GRCm39)	N78S	probably damaging	Het
Abca12	G	A	1: 71,453,837 (GRCm39)		probably benign	Het
Abcb1b	T	C	5: 8,887,747 (GRCm39)	S878P	probably damaging	Het
Adamts20	T	C	15: 94,223,814 (GRCm39)	R1305G	probably damaging	Het
Adcy2	A	T	13: 68,837,400 (GRCm39)	C650S	probably damaging	Het
Ahnak	A	T	19: 8,982,708 (GRCm39)	K1331*	probably null	Het
Alpk1	A	T	3: 127,473,700 (GRCm39)	S768T	probably benign	Het
Ap4b1	T	G	3: 103,722,398 (GRCm39)	L124R	probably damaging	Het
Atp9a	A	G	2: 168,547,114 (GRCm39)	V155A	probably benign	Het
Bptf	A	G	11: 106,938,013 (GRCm39)	S87P	probably benign	Het
Carmil1	A	T	13: 24,220,421 (GRCm39)	M697K	probably benign	Het
Ccdc42	G	A	11: 68,485,022 (GRCm39)	V32M	probably benign	Het
Cert1	A	G	13: 96,753,563 (GRCm39)	H391R	probably damaging	Het
Ces1d	A	G	8: 93,924,294 (GRCm39)		probably null	Het
Dcpp2	T	G	17: 24,119,566 (GRCm39)	Y127D	probably damaging	Het
Def8	C	A	8: 124,174,060 (GRCm39)	T7K	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
En2	G	A	5: 28,371,594 (GRCm39)	G24S	probably benign	Het
Evi2a	T	C	11: 79,418,688 (GRCm39)		probably benign	Het
Fam117b	A	T	1: 59,952,837 (GRCm39)	H172L	possibly damaging	Het
Fam169b	A	G	7: 67,954,338 (GRCm39)	I67M	probably benign	Het
Fbxo40	T	A	16: 36,789,861 (GRCm39)	E416D	probably damaging	Het
Gja8	T	A	3: 96,827,635 (GRCm39)	N9I	possibly damaging	Het
Gsg1l2	T	A	11: 67,676,097 (GRCm39)	C154S	probably benign	Het
Hdhd3	C	A	4: 62,418,232 (GRCm39)		probably benign	Het
Hunk	C	T	16: 90,278,214 (GRCm39)	P341L	possibly damaging	Het
Ighv8-5	T	C	12: 115,031,258 (GRCm39)	T94A	possibly damaging	Het
Ints3	T	C	3: 90,331,319 (GRCm39)	N75D	probably benign	Het
Krt39	T	C	11: 99,409,901 (GRCm39)	E212G	probably damaging	Het
Ldlrad4	A	G	18: 68,387,495 (GRCm39)	H269R	probably damaging	Het
Lrrc2	T	A	9: 110,790,049 (GRCm39)	V102E	possibly damaging	Het
Ltbp2	T	A	12: 84,836,655 (GRCm39)	I1292L	probably benign	Het
Mad2l1bp	A	T	17: 46,458,993 (GRCm39)	V179E	possibly damaging	Het
Map3k1	A	G	13: 111,892,663 (GRCm39)	V864A	probably benign	Het
Mapk8ip2	T	G	15: 89,342,322 (GRCm39)	V511G	probably damaging	Het
Mknk2	A	C	10: 80,503,021 (GRCm39)	S434A	probably benign	Het
Mllt11	A	G	3: 95,127,548 (GRCm39)	F74S	probably damaging	Het
Muc16	G	T	9: 18,506,519 (GRCm39)	T6412K	possibly damaging	Het
Nek5	C	A	8: 22,573,403 (GRCm39)	A518S	possibly damaging	Het
Npy1r	T	C	8: 67,156,864 (GRCm39)	F95L	possibly damaging	Het
Nup98	G	A	7: 101,773,569 (GRCm39)	T1586I	probably benign	Het
Olig3	A	T	10: 19,232,518 (GRCm39)	M48L	probably benign	Het
Or13n4	A	G	7: 106,422,932 (GRCm39)	M267T	probably benign	Het
Or14j7	T	A	17: 38,234,568 (GRCm39)	L37*	probably null	Het
Or5b120	T	G	19: 13,480,587 (GRCm39)	N293K	probably damaging	Het
Or6aa1	T	A	7: 86,043,765 (GRCm39)	K314*	probably null	Het
Pcdhb16	A	G	18: 37,611,904 (GRCm39)	D288G	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,790,886 (GRCm39)	I687V	probably benign	Het
Piezo1	G	A	8: 123,209,659 (GRCm39)	T2348M	probably damaging	Het
Plod3	A	G	5: 137,018,835 (GRCm39)	T291A	probably benign	Het
Pmpca	G	A	2: 26,280,144 (GRCm39)	V89I	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Pou6f2	C	A	13: 18,553,092 (GRCm39)	A81S		Het
Ppl	T	A	16: 4,905,828 (GRCm39)	E1489V	probably damaging	Het
Ptpdc1	A	G	13: 48,733,264 (GRCm39)	F792S	probably damaging	Het
Pus1	A	G	5: 110,927,582 (GRCm39)	Y58H	probably damaging	Het
Rex2	C	A	4: 147,142,547 (GRCm39)	T345N	possibly damaging	Het
Rnf144a	T	C	12: 26,389,439 (GRCm39)	M1V	probably null	Het
Siglec15	A	T	18: 78,100,445 (GRCm39)	C13*	probably null	Het
Skint10	G	A	4: 112,632,003 (GRCm39)	Q6*	probably null	Het
Slc5a1	T	C	5: 33,304,057 (GRCm39)	W291R	probably damaging	Het
Snx27	A	G	3: 94,426,366 (GRCm39)	F378L	probably benign	Het
Strip2	A	T	6: 29,923,928 (GRCm39)	T81S	probably benign	Het
Tas2r143	A	G	6: 42,377,656 (GRCm39)	N162S	probably damaging	Het
Tatdn1	T	C	15: 58,776,607 (GRCm39)	D256G	probably benign	Het
Tbc1d5	A	G	17: 51,089,291 (GRCm39)	S630P	probably damaging	Het
Tlr11	A	G	14: 50,598,611 (GRCm39)	D199G	probably benign	Het
Tmed8	C	A	12: 87,246,991 (GRCm39)		probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttll3	TAA	TAAAGCAA	6: 113,376,123 (GRCm39)		probably null	Het
U2af2	T	C	7: 5,077,661 (GRCm39)		probably null	Het
Ywhag	C	T	5: 135,940,394 (GRCm39)	E67K	probably damaging	Het
Zfp105	A	G	9: 122,759,808 (GRCm39)	H493R	probably damaging	Het
Zfp426	A	T	9: 20,381,446 (GRCm39)	C514S	probably damaging	Het
Zfp536	T	A	7: 37,269,113 (GRCm39)	D101V	probably damaging	Het

Other mutations in Arrdc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02376:Arrdc2	APN	8	71,291,623 (GRCm39)	missense	probably benign	0.11
R1593:Arrdc2	UTSW	8	71,289,764 (GRCm39)	missense	probably damaging	1.00
R2918:Arrdc2	UTSW	8	71,290,171 (GRCm39)	missense	probably benign	0.00
R4179:Arrdc2	UTSW	8	71,289,821 (GRCm39)	missense	probably damaging	1.00
R4825:Arrdc2	UTSW	8	71,291,921 (GRCm39)	splice site	probably null
R4974:Arrdc2	UTSW	8	71,290,162 (GRCm39)	missense	probably benign	0.17
R6851:Arrdc2	UTSW	8	71,291,369 (GRCm39)	missense	probably damaging	1.00
R8035:Arrdc2	UTSW	8	71,292,026 (GRCm39)	missense	probably benign	0.19
R8493:Arrdc2	UTSW	8	71,289,501 (GRCm39)	critical splice donor site	probably null
R9269:Arrdc2	UTSW	8	71,288,973 (GRCm39)	missense	probably benign	0.00
R9413:Arrdc2	UTSW	8	71,288,892 (GRCm39)	missense	probably damaging	1.00
X0012:Arrdc2	UTSW	8	71,289,986 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTAACTCTGAGTATAAGCAGTGCTG -3'
(R):5'- CCAACCGTCCTATAAGTGCGAC -3'

Sequencing Primer
(F):5'- TATAAGCAGTGCTGGAGCCC -3'
(R):5'- TCCTATAAGTGCGACGCAGCTG -3'

Posted On

2019-12-03