Mutagenetix > Incidental Mutation

Incidental Mutation 'R9585:Adprs'

722738

Institutional Source

Beutler Lab

Gene Symbol

Adprs

Ensembl Gene

ENSMUSG00000042558

Gene Name

ADP-ribosylserine hydrolase

Synonyms

Arh3, Adprhl2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9585 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126210144-126215496 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126211786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 175 (D175E)

Ref Sequence

ENSEMBL: ENSMUSP00000099677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030658] [ENSMUST00000070132] [ENSMUST00000102616] [ENSMUST00000102617]

AlphaFold

Q8CG72

PDB Structure

Crystal Structure of mouse ADP-ribosylhydrolase 3 (mARH3) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000030658

SMART Domains

Protein: ENSMUSP00000030658
Gene: ENSMUSG00000028845

Domain	Start	End	E-Value	Type
Pfam:Tektin	17	399	2.1e-133	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070132

SMART Domains

Protein: ENSMUSP00000070270
Gene: ENSMUSG00000056174

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	25	33	N/A	INTRINSIC
low complexity region	60	69	N/A	INTRINSIC
low complexity region	72	105	N/A	INTRINSIC
Pfam:Collagen	116	168	1.2e-9	PFAM
low complexity region	207	237	N/A	INTRINSIC
internal_repeat_1	240	259	1.3e-7	PROSPERO
low complexity region	260	327	N/A	INTRINSIC
low complexity region	342	387	N/A	INTRINSIC
internal_repeat_1	388	407	1.3e-7	PROSPERO
low complexity region	408	429	N/A	INTRINSIC
low complexity region	440	459	N/A	INTRINSIC
low complexity region	471	530	N/A	INTRINSIC
low complexity region	545	557	N/A	INTRINSIC
C1Q	564	699	2.44e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102616

SMART Domains

Protein: ENSMUSP00000099676
Gene: ENSMUSG00000028845

Domain	Start	End	E-Value	Type
Pfam:Tektin	17	398	1.9e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102617
AA Change: D175E

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558
AA Change: D175E

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
Pfam:ADP_ribosyl_GH	31	344	1.5e-68	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,199,993 (GRCm39)	D533V	possibly damaging	Het
4933411K16Rik	A	G	19: 42,041,352 (GRCm39)	E161G	probably benign	Het
Abca12	A	G	1: 71,342,745 (GRCm39)	S912P	probably damaging	Het
Abca3	G	A	17: 24,619,486 (GRCm39)	M1196I	probably benign	Het
Asrgl1	A	G	19: 9,090,398 (GRCm39)	L316P	probably benign	Het
Avl9	T	A	6: 56,734,299 (GRCm39)	M626K	probably damaging	Het
Birc6	A	G	17: 74,916,265 (GRCm39)	N1727S	probably damaging	Het
Casp14	G	A	10: 78,549,194 (GRCm39)	R251W	probably damaging	Het
Cfap69	A	G	5: 5,631,269 (GRCm39)	I919T	possibly damaging	Het
Cibar2	T	C	8: 120,901,450 (GRCm39)	E85G	probably null	Het
Cps1	T	A	1: 67,195,341 (GRCm39)	M254K	probably damaging	Het
Ctc1	A	G	11: 68,925,490 (GRCm39)	E1009G	probably damaging	Het
Ddx25	A	T	9: 35,455,009 (GRCm39)	Y426*	probably null	Het
Dok3	A	G	13: 55,672,057 (GRCm39)	F207S	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fcrla	A	T	1: 170,749,868 (GRCm39)	M1K	probably null	Het
Heatr4	A	T	12: 84,014,472 (GRCm39)	S588R	probably damaging	Het
Iglv3	A	G	16: 19,059,960 (GRCm39)	*123Q	probably null	Het
Igsf9b	T	C	9: 27,233,532 (GRCm39)	I344T	probably damaging	Het
Il18	T	C	9: 50,490,661 (GRCm39)	S99P	probably damaging	Het
Krt36	G	A	11: 99,994,892 (GRCm39)	L227F	probably damaging	Het
Lrriq1	A	G	10: 103,051,250 (GRCm39)	S501P	probably benign	Het
Lvrn	T	C	18: 47,011,411 (GRCm39)		probably null	Het
Myo18a	T	A	11: 77,709,495 (GRCm39)	M535K	probably benign	Het
Myocd	T	A	11: 65,095,192 (GRCm39)	S158C	probably damaging	Het
Naip6	A	T	13: 100,436,577 (GRCm39)	C649S	probably damaging	Het
Oasl2	T	C	5: 115,035,901 (GRCm39)	V59A	probably damaging	Het
Obscn	C	A	11: 58,965,831 (GRCm39)	V2942F	probably benign	Het
Or10a49	T	A	7: 108,467,552 (GRCm39)	T270S	probably benign	Het
Or5l14	T	A	2: 87,792,919 (GRCm39)	T106S	probably benign	Het
Osbpl6	A	G	2: 76,354,438 (GRCm39)	T18A	probably benign	Het
Pcf11	A	T	7: 92,311,006 (GRCm39)	D327E	probably benign	Het
Per3	G	T	4: 151,097,138 (GRCm39)	Q796K	probably benign	Het
Pex5l	T	C	3: 33,060,091 (GRCm39)	T227A	probably benign	Het
Phf11b	G	T	14: 59,568,704 (GRCm39)	P70T	probably benign	Het
Pkd1l1	T	G	11: 8,804,390 (GRCm39)	I2184L		Het
Polr3a	A	T	14: 24,502,289 (GRCm39)	M1288K	probably damaging	Het
Pth1r	T	A	9: 110,573,847 (GRCm39)	R3S	probably benign	Het
Ptprk	C	A	10: 28,369,147 (GRCm39)	Y706*	probably null	Het
Rmi2	C	T	16: 10,703,983 (GRCm39)	T108I	probably benign	Het
Rrbp1	T	C	2: 143,799,479 (GRCm39)	N1076S	probably benign	Het
Setd3	A	C	12: 108,074,814 (GRCm39)		probably null	Het
Slc4a1	A	G	11: 102,247,915 (GRCm39)	Y360H	probably benign	Het
Sox21	A	G	14: 118,472,993 (GRCm39)	S19P	possibly damaging	Het
Speer4a2	T	C	5: 26,291,542 (GRCm39)	H88R	possibly damaging	Het
Stx18	T	A	5: 38,249,916 (GRCm39)	N76K	possibly damaging	Het
Sv2c	T	C	13: 96,122,466 (GRCm39)	T437A	probably benign	Het
Trrap	G	A	5: 144,777,330 (GRCm39)	V3043M	probably damaging	Het
Vps50	T	A	6: 3,600,348 (GRCm39)	S936T	probably benign	Het

Other mutations in Adprs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01591:Adprs	APN	4	126,212,274 (GRCm39)	missense	probably damaging	1.00
IGL02391:Adprs	APN	4	126,211,701 (GRCm39)	splice site	probably benign
IGL03189:Adprs	APN	4	126,211,087 (GRCm39)	splice site	probably benign
R0139:Adprs	UTSW	4	126,211,947 (GRCm39)	missense	probably damaging	1.00
R0302:Adprs	UTSW	4	126,211,185 (GRCm39)	missense	probably benign	0.00
R0879:Adprs	UTSW	4	126,210,410 (GRCm39)	missense	probably benign
R2008:Adprs	UTSW	4	126,211,137 (GRCm39)	missense	probably benign	0.05
R3789:Adprs	UTSW	4	126,210,544 (GRCm39)	missense	probably damaging	0.96
R5038:Adprs	UTSW	4	126,211,102 (GRCm39)	missense	possibly damaging	0.69
R5058:Adprs	UTSW	4	126,212,238 (GRCm39)	missense	probably damaging	1.00
R5724:Adprs	UTSW	4	126,211,869 (GRCm39)	missense	probably damaging	1.00
R6171:Adprs	UTSW	4	126,211,110 (GRCm39)	missense	probably damaging	1.00
R6326:Adprs	UTSW	4	126,210,406 (GRCm39)	missense	possibly damaging	0.58
R7825:Adprs	UTSW	4	126,215,489 (GRCm39)	unclassified	probably benign
R8552:Adprs	UTSW	4	126,210,368 (GRCm39)	makesense	probably null
R9008:Adprs	UTSW	4	126,210,632 (GRCm39)	missense	probably damaging	1.00
R9142:Adprs	UTSW	4	126,215,360 (GRCm39)	missense	probably damaging	1.00
R9698:Adprs	UTSW	4	126,210,514 (GRCm39)	missense	probably damaging	1.00
Z1176:Adprs	UTSW	4	126,215,454 (GRCm39)	missense	unknown
Z1176:Adprs	UTSW	4	126,215,360 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTGGATGATACACCCTGC -3'
(R):5'- CAGGTTTGCCCAGGAATACAAG -3'

Sequencing Primer
(F):5'- TGGATGATACACCCTGCAGAGC -3'
(R):5'- TTTGCCCAGGAATACAAGAAGGAC -3'

Posted On

2022-08-09