Mutagenetix > Incidental Mutation

Incidental Mutation 'R1550:Arrdc1'

169820

Institutional Source

Beutler Lab

Gene Symbol

Arrdc1

Ensembl Gene

ENSMUSG00000026972

Gene Name

arrestin domain containing 1

Synonyms

MMRRC Submission

039589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1550 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24815364-24825264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24816351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 206 (L206P)

Ref Sequence

ENSEMBL: ENSMUSP00000117695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028349] [ENSMUST00000102935] [ENSMUST00000133934] [ENSMUST00000142887] [ENSMUST00000144963]

AlphaFold

Q99KN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028349
AA Change: L243P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028349
Gene: ENSMUSG00000026972
AA Change: L243P

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	7	139	8.5e-19	PFAM
Arrestin_C	162	286	1.19e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102935
AA Change: L242P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099999
Gene: ENSMUSG00000026972
AA Change: L242P

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	7	139	4.1e-31	PFAM
Arrestin_C	162	285	2.7e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129784

Predicted Effect

probably benign
Transcript: ENSMUST00000132074

SMART Domains

Protein: ENSMUSP00000116352
Gene: ENSMUSG00000026972

Domain	Start	End	E-Value	Type
Blast:Arrestin_C	2	84	4e-48	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133396

Predicted Effect

probably damaging
Transcript: ENSMUST00000133934
AA Change: L206P

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

SMART Domains

Protein: ENSMUSP00000117695
Gene: ENSMUSG00000026972
AA Change: L206P

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	38	102	1.4e-16	PFAM
Pfam:Arrestin_C	125	210	1.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142887

SMART Domains

Protein: ENSMUSP00000117372
Gene: ENSMUSG00000026972

Domain	Start	End	E-Value	Type
Pfam:Arrestin_N	6	95	2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156706

Predicted Effect

probably benign
Transcript: ENSMUST00000144963

SMART Domains

Protein: ENSMUSP00000114684
Gene: ENSMUSG00000026972

Domain	Start	End	E-Value	Type
Blast:Arrestin_C	3	58	5e-21	BLAST

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mouse embryonic fibroblasts exhibit reduced extracellular vesicle release. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,654,668 (GRCm39)	V551A	probably benign	Het
Acss1	A	T	2: 150,484,715 (GRCm39)	L176Q	probably damaging	Het
Aldh7a1	A	G	18: 56,683,454 (GRCm39)	I117T	possibly damaging	Het
Arf5	C	T	6: 28,426,152 (GRCm39)	R180C	probably damaging	Het
Arhgap21	A	T	2: 20,886,576 (GRCm39)	Y39*	probably null	Het
Cby3	A	T	11: 50,250,313 (GRCm39)	Y173F	probably damaging	Het
Cdh18	T	A	15: 23,436,634 (GRCm39)	C497S	probably damaging	Het
Cyp11b2	T	C	15: 74,725,442 (GRCm39)	I226V	probably benign	Het
Ddit4l	T	A	3: 137,330,036 (GRCm39)		probably null	Het
Ddx11	C	T	17: 66,445,215 (GRCm39)	T405I	probably benign	Het
Dhx40	A	T	11: 86,667,565 (GRCm39)		probably null	Het
Dlgap2	A	G	8: 14,872,499 (GRCm39)	D659G	probably damaging	Het
Eef2	A	G	10: 81,016,681 (GRCm39)	E586G	probably benign	Het
Fam161a	A	G	11: 22,970,470 (GRCm39)	Q216R	possibly damaging	Het
Fbxw24	G	T	9: 109,436,112 (GRCm39)	R307S	probably benign	Het
Gbp2b	G	T	3: 142,312,591 (GRCm39)	A325S	probably damaging	Het
Gli1	A	T	10: 127,174,385 (GRCm39)	F2Y	probably damaging	Het
Gnl2	T	C	4: 124,938,027 (GRCm39)	V269A	probably damaging	Het
Grin1	A	G	2: 25,195,143 (GRCm39)	V292A	probably benign	Het
Heg1	T	A	16: 33,555,923 (GRCm39)	V1001E	probably damaging	Het
Herc2	T	A	7: 55,785,406 (GRCm39)	I1552N	probably damaging	Het
Htr1a	A	G	13: 105,581,788 (GRCm39)	T343A	probably benign	Het
Itk	G	T	11: 46,280,153 (GRCm39)	R29S	probably damaging	Het
Ivns1abp	G	T	1: 151,237,242 (GRCm39)	G469C	probably damaging	Het
Jph3	A	T	8: 122,511,598 (GRCm39)	N529Y	possibly damaging	Het
Kdm2b	A	G	5: 123,019,120 (GRCm39)	L829P	probably damaging	Het
Kprp	T	A	3: 92,732,033 (GRCm39)	Y339F	probably damaging	Het
Lrp2	A	G	2: 69,333,005 (GRCm39)	V1504A	possibly damaging	Het
Lypd6b	A	G	2: 49,833,615 (GRCm39)	D85G	probably damaging	Het
Mansc4	T	C	6: 146,977,136 (GRCm39)	Y160C	probably damaging	Het
Mgll	C	A	6: 88,790,871 (GRCm39)	H164N	probably benign	Het
Mtmr4	A	T	11: 87,504,342 (GRCm39)	D1097V	probably damaging	Het
Nfasc	T	C	1: 132,536,241 (GRCm39)	K571E	probably damaging	Het
Nfat5	A	T	8: 108,097,205 (GRCm39)	N1527Y	probably damaging	Het
Nlgn1	A	G	3: 25,966,808 (GRCm39)	L215P	probably damaging	Het
Or6b9	T	A	7: 106,555,235 (GRCm39)	I303L	probably benign	Het
Pde4dip	T	C	3: 97,627,020 (GRCm39)	S1173G	probably damaging	Het
Prrt3	A	T	6: 113,472,468 (GRCm39)	V568E	probably damaging	Het
Ptpra	G	A	2: 130,383,313 (GRCm39)	R503Q	possibly damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rnf7l	A	G	10: 63,257,427 (GRCm39)	L31P	probably damaging	Het
Sema5a	G	A	15: 32,618,995 (GRCm39)	A508T	probably benign	Het
Serpinb11	T	C	1: 107,307,418 (GRCm39)	I283T	possibly damaging	Het
Setbp1	A	T	18: 78,901,807 (GRCm39)	L620Q	probably damaging	Het
Sipa1l3	A	T	7: 29,082,628 (GRCm39)	C756S	probably benign	Het
Sirpa	A	T	2: 129,471,961 (GRCm39)	I463F	probably damaging	Het
Slc13a2	G	T	11: 78,293,990 (GRCm39)	N257K	probably damaging	Het
Slc4a5	C	A	6: 83,248,039 (GRCm39)	T530N	probably damaging	Het
Stab2	A	T	10: 86,714,790 (GRCm39)	F125L	probably benign	Het
Tet2	G	T	3: 133,175,280 (GRCm39)	Q1356K	probably benign	Het
Tet3	A	T	6: 83,363,010 (GRCm39)	S856T	probably damaging	Het
Tg	C	T	15: 66,565,279 (GRCm39)	T1207I	possibly damaging	Het
Tkt	A	G	14: 30,287,525 (GRCm39)	Y173C	probably damaging	Het
Tlr6	T	A	5: 65,110,754 (GRCm39)	I718F	probably damaging	Het
Tnfrsf11b	A	G	15: 54,117,454 (GRCm39)	V267A	possibly damaging	Het
Ubqln3	T	A	7: 103,790,753 (GRCm39)	N446Y	probably damaging	Het
Vmn2r118	C	T	17: 55,915,083 (GRCm39)	C521Y	probably damaging	Het
Vps16	A	G	2: 130,282,260 (GRCm39)	D394G	probably benign	Het
Zfp236	A	T	18: 82,692,549 (GRCm39)	M142K	possibly damaging	Het
Zfp780b	T	C	7: 27,664,282 (GRCm39)	D91G	probably benign	Het
Zfp97	T	A	17: 17,365,468 (GRCm39)	Y322*	probably null	Het

Other mutations in Arrdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Arrdc1	APN	2	24,816,164 (GRCm39)	missense	possibly damaging	0.93
IGL02510:Arrdc1	APN	2	24,825,112 (GRCm39)	missense	probably damaging	1.00
IGL03307:Arrdc1	APN	2	24,816,354 (GRCm39)	missense	probably damaging	0.99
PIT4378001:Arrdc1	UTSW	2	24,816,645 (GRCm39)	missense	probably damaging	1.00
R1192:Arrdc1	UTSW	2	24,816,152 (GRCm39)	missense	probably benign	0.22
R1466:Arrdc1	UTSW	2	24,815,807 (GRCm39)	missense	probably benign	0.04
R1466:Arrdc1	UTSW	2	24,815,807 (GRCm39)	missense	probably benign	0.04
R1584:Arrdc1	UTSW	2	24,815,807 (GRCm39)	missense	probably benign	0.04
R2061:Arrdc1	UTSW	2	24,816,364 (GRCm39)	nonsense	probably null
R2157:Arrdc1	UTSW	2	24,816,987 (GRCm39)	missense	probably damaging	1.00
R4904:Arrdc1	UTSW	2	24,816,676 (GRCm39)	missense	possibly damaging	0.93
R4946:Arrdc1	UTSW	2	24,815,860 (GRCm39)	missense	probably benign	0.36
R5632:Arrdc1	UTSW	2	24,817,840 (GRCm39)	missense	probably benign	0.01
R5766:Arrdc1	UTSW	2	24,816,417 (GRCm39)	missense	probably damaging	0.99
R6875:Arrdc1	UTSW	2	24,815,677 (GRCm39)	missense	probably benign	0.19
R7860:Arrdc1	UTSW	2	24,816,158 (GRCm39)	missense	probably damaging	1.00
R9136:Arrdc1	UTSW	2	24,817,193 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTAGCAGGGCTTCCAACCTGAAC -3'
(R):5'- CCTTTCCCATGAAACAGAAGGGGTG -3'

Sequencing Primer
(F):5'- CTCAGTGGTGGTGACAGACAC -3'
(R):5'- CAGAAGGGGTGGGTGCTG -3'

Posted On

2014-04-13