Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02529:Rgs19'

297245

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgs19

Ensembl Gene

ENSMUSG00000002458

Gene Name

regulator of G-protein signaling 19

Synonyms

2610042F04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02529

Quality Score

Status

Chromosome

Chromosomal Location

181330212-181335770 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 181330943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 203 (R203H)

Ref Sequence

ENSEMBL: ENSMUSP00000129026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002532] [ENSMUST00000103042] [ENSMUST00000108769] [ENSMUST00000108771] [ENSMUST00000108772] [ENSMUST00000108776] [ENSMUST00000108778] [ENSMUST00000165416] [ENSMUST00000108779] [ENSMUST00000129745]

AlphaFold

Q9CX84

Predicted Effect

probably benign
Transcript: ENSMUST00000002532
AA Change: R203H

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000002532
Gene: ENSMUSG00000002458
AA Change: R203H

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
RGS	90	206	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103042

SMART Domains

Protein: ENSMUSP00000099331
Gene: ENSMUSG00000059540

Domain	Start	End	E-Value	Type
TFS2N	7	81	2.51e-25	SMART
low complexity region	114	129	N/A	INTRINSIC
TFS2M	136	237	4.14e-51	SMART
ZnF_C2C2	259	298	7.37e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108769

SMART Domains

Protein: ENSMUSP00000104400
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
Pfam:RGS	90	160	4.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108771
AA Change: R181H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104402
Gene: ENSMUSG00000002458
AA Change: R181H

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC
RGS	68	184	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108772
AA Change: R181H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104403
Gene: ENSMUSG00000002458
AA Change: R181H

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC
RGS	68	184	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108776
AA Change: R203H

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104406
Gene: ENSMUSG00000002458
AA Change: R203H

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
RGS	90	206	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108778
AA Change: R230H

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104408
Gene: ENSMUSG00000002458
AA Change: R230H

Domain	Start	End	E-Value	Type
low complexity region	66	78	N/A	INTRINSIC
RGS	117	233	2.73e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165416
AA Change: R203H

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000129026
Gene: ENSMUSG00000002458
AA Change: R203H

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC
RGS	90	206	2.73e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130712

Predicted Effect

probably benign
Transcript: ENSMUST00000108779

SMART Domains

Protein: ENSMUSP00000104409
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
low complexity region	39	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144476

SMART Domains

Protein: ENSMUSP00000120723
Gene: ENSMUSG00000002458

Domain	Start	End	E-Value	Type
Pfam:RGS	1	49	3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129745

SMART Domains

Protein: ENSMUSP00000119646
Gene: ENSMUSG00000059540

Domain	Start	End	E-Value	Type
Pfam:Med26	21	73	2.1e-20	PFAM
low complexity region	107	122	N/A	INTRINSIC
TFS2M	129	230	4.14e-51	SMART
ZnF_C2C2	252	291	7.37e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129006

SMART Domains

Protein: ENSMUSP00000120083
Gene: ENSMUSG00000059540

Domain	Start	End	E-Value	Type
Pfam:Med26	27	77	5.1e-17	PFAM
low complexity region	112	127	N/A	INTRINSIC
TFS2M	134	235	4.14e-51	SMART
ZnF_C2C2	257	296	7.37e-18	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,190 (GRCm39)	H925L	probably benign	Het
Agpat5	T	A	8: 18,931,770 (GRCm39)	Y297N	possibly damaging	Het
Apobec3	C	T	15: 79,781,888 (GRCm39)		probably benign	Het
Atpaf1	C	A	4: 115,648,466 (GRCm39)	A161E	probably damaging	Het
Bnc1	A	T	7: 81,627,116 (GRCm39)	D91E	probably damaging	Het
Capg	G	A	6: 72,532,829 (GRCm39)	V98I	probably benign	Het
Ccdc7b	C	T	8: 129,904,706 (GRCm39)	L115F	possibly damaging	Het
Ces2a	T	A	8: 105,463,851 (GRCm39)		probably benign	Het
Cldn6	T	G	17: 23,900,291 (GRCm39)	V85G	probably damaging	Het
Clec2e	T	C	6: 129,075,459 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dhx38	T	C	8: 110,285,645 (GRCm39)	E396G	probably benign	Het
Dock8	A	T	19: 25,078,290 (GRCm39)	K532*	probably null	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Gmip	G	A	8: 70,269,439 (GRCm39)	G537E	probably damaging	Het
Hacd1	T	C	2: 14,050,013 (GRCm39)	H64R	probably damaging	Het
Hdac3	G	T	18: 38,077,185 (GRCm39)	Q230K	probably benign	Het
Htt	C	T	5: 34,976,387 (GRCm39)		probably benign	Het
Il18r1	A	G	1: 40,526,219 (GRCm39)	D255G	possibly damaging	Het
Krt82	T	A	15: 101,458,831 (GRCm39)	R70*	probably null	Het
Krt9	G	T	11: 100,080,792 (GRCm39)	H353Q	probably damaging	Het
Kyat3	T	C	3: 142,426,235 (GRCm39)	I57T	probably benign	Het
L1td1	A	G	4: 98,625,658 (GRCm39)	K618E	probably benign	Het
Limch1	C	A	5: 67,159,956 (GRCm39)	N617K	possibly damaging	Het
Lsm8	T	C	6: 18,851,651 (GRCm39)	F34S	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Mmrn2	C	A	14: 34,120,570 (GRCm39)	A480E	possibly damaging	Het
Mthfd1	A	G	12: 76,350,483 (GRCm39)	I474V	probably benign	Het
Mycl	A	G	4: 122,890,770 (GRCm39)	K152R	probably damaging	Het
Numa1	A	G	7: 101,649,160 (GRCm39)		probably null	Het
Or5p54	G	T	7: 107,554,423 (GRCm39)	V192F	possibly damaging	Het
Otog	A	C	7: 45,909,381 (GRCm39)	D617A	probably damaging	Het
Ppef2	A	G	5: 92,392,596 (GRCm39)	I267T	probably damaging	Het
Ptprq	A	G	10: 107,471,226 (GRCm39)	Y1392H	probably benign	Het
Rasgrp3	G	T	17: 75,832,097 (GRCm39)	K639N	possibly damaging	Het
Scnn1g	C	A	7: 121,341,669 (GRCm39)		probably benign	Het
Tmem181b-ps	T	C	17: 6,734,320 (GRCm39)		noncoding transcript	Het
Vmn2r118	A	G	17: 55,917,870 (GRCm39)	V214A	possibly damaging	Het
Zfp811	T	C	17: 33,016,789 (GRCm39)	Y417C	probably damaging	Het

Other mutations in Rgs19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Rgs19	APN	2	181,331,246 (GRCm39)	missense	probably damaging	1.00
IGL01620:Rgs19	APN	2	181,331,381 (GRCm39)	missense	possibly damaging	0.72
IGL02096:Rgs19	APN	2	181,331,076 (GRCm39)	missense	probably damaging	1.00
IGL03126:Rgs19	APN	2	181,333,114 (GRCm39)	missense	probably benign	0.00
IGL03235:Rgs19	APN	2	181,331,525 (GRCm39)	missense	probably benign	0.03
R1969:Rgs19	UTSW	2	181,331,276 (GRCm39)	missense	probably damaging	1.00
R5085:Rgs19	UTSW	2	181,331,336 (GRCm39)	missense	possibly damaging	0.65
R6083:Rgs19	UTSW	2	181,331,300 (GRCm39)	missense	probably damaging	1.00
R6852:Rgs19	UTSW	2	181,330,941 (GRCm39)	missense	possibly damaging	0.71
R7251:Rgs19	UTSW	2	181,331,541 (GRCm39)	missense	probably benign	0.00
R7535:Rgs19	UTSW	2	181,333,101 (GRCm39)	missense	probably damaging	0.96
R8936:Rgs19	UTSW	2	181,333,058 (GRCm39)	nonsense	probably null

Posted On

2015-04-16