Mutagenetix > Incidental Mutation

Incidental Mutation 'R2061:Arrdc1'

316209

Institutional Source

Beutler Lab

Gene Symbol

Arrdc1

Ensembl Gene

ENSMUSG00000026972

Gene Name

arrestin domain containing 1

Synonyms

MMRRC Submission

040066-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24815364-24825264 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 24816364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 202 (Q202*)

Ref Sequence

ENSEMBL: ENSMUSP00000117695 (fasta)

Gene Model

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

AlphaFold

Q99KN1

Predicted Effect

probably null
Transcript: ENSMUST00000028349
AA Change: Q239*

SMART Domains

Protein: ENSMUSP00000028349
Gene: ENSMUSG00000026972
AA Change: Q239*

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 null
Transcript: ENSMUST00000102935
AA Change: Q238*

SMART Domains

Protein: ENSMUSP00000099999
Gene: ENSMUSG00000026972
AA Change: Q238*

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 null
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 null
Transcript: ENSMUST00000133934
AA Change: Q202*

SMART Domains

Protein: ENSMUSP00000117695
Gene: ENSMUSG00000026972
AA Change: Q202*

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: ENSMUST00000152240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155525

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (124/125)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,502,412 (GRCm39)	S191P	probably damaging	Het
Ak2	C	T	4: 128,901,990 (GRCm39)	A221V	probably damaging	Het
Akap9	T	A	5: 4,011,010 (GRCm39)	V571E	probably damaging	Het
Amph	G	T	13: 19,309,205 (GRCm39)	E428*	probably null	Het
Armh3	C	T	19: 45,967,106 (GRCm39)	R12Q	probably damaging	Het
Arnt2	T	A	7: 83,993,078 (GRCm39)	D154V	probably damaging	Het
Ate1	A	G	7: 130,112,643 (GRCm39)	C72R	probably damaging	Het
Atox1	A	G	11: 55,345,724 (GRCm39)	V22A	possibly damaging	Het
Bbs12	A	T	3: 37,373,215 (GRCm39)	M3L	probably damaging	Het
Bfsp1	A	G	2: 143,704,598 (GRCm39)	V85A	probably benign	Het
Bltp2	T	A	11: 78,159,575 (GRCm39)	C541*	probably null	Het
Caskin2	C	A	11: 115,694,456 (GRCm39)	V382F	probably benign	Het
Ccdc39	T	A	3: 33,874,045 (GRCm39)	M596L	probably damaging	Het
Cd22	C	T	7: 30,569,530 (GRCm39)	V529M	probably damaging	Het
Cd22	A	C	7: 30,575,581 (GRCm39)	Y154D	probably benign	Het
Cdadc1	T	A	14: 59,818,783 (GRCm39)	E348D	probably damaging	Het
Cdhr2	T	C	13: 54,868,631 (GRCm39)	V531A	probably damaging	Het
Cdk11b	A	G	4: 155,726,061 (GRCm39)		probably benign	Het
Cebpa	G	T	7: 34,818,947 (GRCm39)	R35L	probably damaging	Het
Chat	T	C	14: 32,168,830 (GRCm39)	N235S	probably benign	Het
Col12a1	T	A	9: 79,524,987 (GRCm39)	I2725F	possibly damaging	Het
Cracr2b	A	G	7: 141,045,193 (GRCm39)	E231G	probably damaging	Het
Cryaa	G	T	17: 31,900,029 (GRCm39)	A151S	probably benign	Het
Cspg4b	T	A	13: 113,454,628 (GRCm39)	W225R	probably damaging	Het
Dab1	A	T	4: 104,535,938 (GRCm39)	I116F	probably damaging	Het
Ddx43	C	A	9: 78,303,386 (GRCm39)	N75K	probably benign	Het
Dmbt1	T	G	7: 130,700,863 (GRCm39)	C1014G	possibly damaging	Het
Dner	C	A	1: 84,383,710 (GRCm39)	C558F	probably damaging	Het
Dsc2	A	G	18: 20,165,456 (GRCm39)	V839A	possibly damaging	Het
Dsg3	C	T	18: 20,660,794 (GRCm39)	R378*	probably null	Het
Ecpas	G	T	4: 58,824,270 (GRCm39)	P1116T	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Epha6	T	C	16: 59,476,160 (GRCm39)	M1069V	probably damaging	Het
F930017D23Rik	A	C	10: 43,480,416 (GRCm39)		noncoding transcript	Het
Faf1	A	T	4: 109,568,005 (GRCm39)	N22Y	probably damaging	Het
Flrt3	A	T	2: 140,503,373 (GRCm39)	V85E	probably damaging	Het
Gadl1	T	A	9: 115,770,448 (GRCm39)	I87N	probably damaging	Het
Galnt14	A	G	17: 73,819,148 (GRCm39)	F314S	probably damaging	Het
Gba2	A	T	4: 43,574,029 (GRCm39)	Y141*	probably null	Het
Gdap1	A	T	1: 17,215,689 (GRCm39)		probably benign	Het
Gfod1	A	T	13: 43,456,719 (GRCm39)		probably null	Het
Gm14295	C	T	2: 176,502,474 (GRCm39)	R655*	probably null	Het
Gm4353	A	G	7: 115,682,934 (GRCm39)	S216P	probably damaging	Het
Gm6605	T	A	7: 38,147,706 (GRCm39)		noncoding transcript	Het
Hectd1	A	T	12: 51,841,227 (GRCm39)	D634E	probably damaging	Het
Helz2	A	G	2: 180,882,337 (GRCm39)	I152T	probably damaging	Het
Hivep1	A	G	13: 42,313,600 (GRCm39)	K1947E	possibly damaging	Het
Ifrd1	A	T	12: 40,263,244 (GRCm39)	F144L	probably benign	Het
Inhca	T	C	9: 103,145,513 (GRCm39)	M395V	probably benign	Het
Itgae	A	T	11: 73,009,448 (GRCm39)	Q544L	probably benign	Het
Jmjd1c	A	T	10: 67,054,205 (GRCm39)	E323D	probably damaging	Het
Kdm5a	G	T	6: 120,358,578 (GRCm39)	R207L	probably benign	Het
Kif5b	C	T	18: 6,226,377 (GRCm39)		probably null	Het
Lbp	T	C	2: 158,166,499 (GRCm39)	V351A	probably benign	Het
Lss	A	T	10: 76,381,932 (GRCm39)		probably null	Het
Madd	A	C	2: 90,991,831 (GRCm39)		probably benign	Het
Map6	G	A	7: 98,966,679 (GRCm39)	V503I	probably damaging	Het
Mark1	A	G	1: 184,660,260 (GRCm39)	L22P	probably damaging	Het
Mcfd2	T	C	17: 87,563,404 (GRCm39)	N130D	probably damaging	Het
Mcm3ap	A	G	10: 76,305,902 (GRCm39)	N5S	probably benign	Het
Mdm4	A	T	1: 132,940,389 (GRCm39)	F48I	probably damaging	Het
Mga	A	T	2: 119,795,461 (GRCm39)		probably benign	Het
Mknk2	A	T	10: 80,507,391 (GRCm39)		probably null	Het
Mmp15	T	C	8: 96,097,407 (GRCm39)	Y459H	possibly damaging	Het
Mthfd1l	A	G	10: 4,053,288 (GRCm39)	K879R	probably benign	Het
Mycbp2	T	C	14: 103,524,696 (GRCm39)	K655E	probably damaging	Het
Nasp	T	C	4: 116,468,323 (GRCm39)	N221D	probably benign	Het
Ndc80	T	C	17: 71,821,213 (GRCm39)	E245G	probably benign	Het
Nmral1	C	T	16: 4,534,193 (GRCm39)	E83K	probably damaging	Het
Noa1	T	A	5: 77,452,034 (GRCm39)	Q550L	possibly damaging	Het
Nutm1	A	T	2: 112,086,097 (GRCm39)	Y211*	probably null	Het
Or10n1	G	T	9: 39,525,071 (GRCm39)	M69I	probably benign	Het
Or10v1	T	A	19: 11,873,921 (GRCm39)	Y179N	probably damaging	Het
Or2ag18	A	C	7: 106,404,975 (GRCm39)	H231Q	probably benign	Het
Or4l1	T	C	14: 50,166,478 (GRCm39)	I174M	possibly damaging	Het
Or5b118	A	G	19: 13,448,605 (GRCm39)	I90M	probably damaging	Het
Otoa	T	C	7: 120,730,551 (GRCm39)	F584L	probably damaging	Het
Palb2	G	A	7: 121,723,748 (GRCm39)	T304I	possibly damaging	Het
Pcolce2	A	T	9: 95,552,229 (GRCm39)	M121L	probably benign	Het
Pcsk5	T	C	19: 17,432,236 (GRCm39)	T1460A	probably benign	Het
Pdzrn4	A	T	15: 92,668,041 (GRCm39)	D731V	probably damaging	Het
Pex11b	C	A	3: 96,543,037 (GRCm39)	Q12K	possibly damaging	Het
Pigw	G	C	11: 84,768,136 (GRCm39)	Q398E	probably benign	Het
Pkd1	A	G	17: 24,788,888 (GRCm39)	E882G	possibly damaging	Het
Pkhd1	A	T	1: 20,683,036 (GRCm39)	N55K	possibly damaging	Het
Plch2	A	T	4: 155,127,298 (GRCm39)		probably benign	Het
Plcl1	T	A	1: 55,790,504 (GRCm39)	L1058Q	probably benign	Het
Ppfia2	T	C	10: 106,673,190 (GRCm39)	S511P	possibly damaging	Het
Ppfibp2	T	C	7: 107,338,437 (GRCm39)	L676P	probably damaging	Het
Ppp6c	T	G	2: 39,116,186 (GRCm39)	D23A	probably damaging	Het
Prss30	G	A	17: 24,193,642 (GRCm39)		probably benign	Het
Ptprz1	T	C	6: 23,049,674 (GRCm39)		probably null	Het
Rec114	T	A	9: 58,560,188 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,680,764 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,493,349 (GRCm39)	I3715N	possibly damaging	Het
Scin	T	C	12: 40,130,947 (GRCm39)	Y322C	probably damaging	Het
Scn3a	A	G	2: 65,291,652 (GRCm39)	V1698A	probably damaging	Het
Scn5a	G	A	9: 119,314,717 (GRCm39)	S1996L	probably damaging	Het
Serpinb2	A	G	1: 107,450,525 (GRCm39)	K174R	possibly damaging	Het
Slc16a4	T	C	3: 107,208,027 (GRCm39)	I179T	probably benign	Het
Slc35b1	T	G	11: 95,276,718 (GRCm39)	F102V	possibly damaging	Het
Slc66a2	G	T	18: 80,334,930 (GRCm39)	A232S	probably benign	Het
Slc6a15	A	G	10: 103,245,595 (GRCm39)	D526G	probably benign	Het
Spata16	A	G	3: 26,978,519 (GRCm39)	D495G	probably damaging	Het
Stk11ip	G	A	1: 75,506,228 (GRCm39)	E583K	possibly damaging	Het
Stk-ps1	T	G	17: 36,709,044 (GRCm39)		noncoding transcript	Het
Sufu	T	A	19: 46,385,651 (GRCm39)	I37N	probably damaging	Het
Tacr1	C	T	6: 82,469,535 (GRCm39)	P140S	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tenm3	C	T	8: 48,795,291 (GRCm39)		probably null	Het
Tex36	A	T	7: 133,196,952 (GRCm39)	I55N	probably damaging	Het
Tmem150c	T	C	5: 100,227,887 (GRCm39)	Y192C	probably damaging	Het
Tmem237	A	G	1: 59,159,445 (GRCm39)		probably benign	Het
Trim11	A	G	11: 58,872,889 (GRCm39)	E191G	probably damaging	Het
Ttll3	C	T	6: 113,386,003 (GRCm39)	A612V	possibly damaging	Het
Ttn	G	A	2: 76,807,466 (GRCm39)	A89V	probably damaging	Het
Usp37	A	G	1: 74,507,431 (GRCm39)	F529L	probably damaging	Het
Vmn1r217	A	C	13: 23,298,698 (GRCm39)	V68G	probably benign	Het
Vwf	T	C	6: 125,568,151 (GRCm39)	S349P	probably damaging	Het
Wt1	G	A	2: 104,961,502 (GRCm39)		probably null	Het
Zcchc7	T	A	4: 44,895,838 (GRCm39)	L262H	probably damaging	Het
Zfp873	A	G	10: 81,895,991 (GRCm39)	S241G	probably benign	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
R1550:Arrdc1	UTSW	2	24,816,351 (GRCm39)	missense	probably damaging	1.00
R1584:Arrdc1	UTSW	2	24,815,807 (GRCm39)	missense	probably benign	0.04
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'- TCAGGTGCCTTCATGGAGAC -3'
(R):5'- GGCTGACATTGAGAACCAGTCAG -3'

Sequencing Primer
(F):5'- CCTTCATGGAGACCTGGAAAAATG -3'
(R):5'- TTGCTACAGGTCAGAGCCATC -3'

Posted On

2015-05-15