Mutagenetix > Incidental Mutation

Incidental Mutation 'R7337:Rgs5'

569544

Institutional Source

Beutler Lab

Gene Symbol

Rgs5

Ensembl Gene

ENSMUSG00000026678

Gene Name

regulator of G-protein signaling 5

Synonyms

1110070A02Rik

MMRRC Submission

045427-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

169483070-169523367 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

G to T at 169483149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000027997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027997] [ENSMUST00000152809]

AlphaFold

O08850

Predicted Effect

probably null
Transcript: ENSMUST00000027997
AA Change: M1I

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027997
Gene: ENSMUSG00000026678
AA Change: M1I

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC
RGS	64	180	9.08e-49	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000152809
AA Change: M1I

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141496
Gene: ENSMUSG00000026678
AA Change: M1I

Domain	Start	End	E-Value	Type
PDB:1AGR\|H	1	73	5e-10	PDB
SCOP:d1dk8a_	51	71	1e-5	SMART

Meta Mutation Damage Score

0.9593

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (88/88)

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 regulators of G protein signaling (RGS) family. The RGS proteins are signal transduction molecules which are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. This gene is a hypoxia-inducible factor-1 dependent, hypoxia-induced gene which is involved in the induction of endothelial apoptosis. This gene is also one of three genes on chromosome 1q contributing to elevated blood pressure. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a targeted mutation appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,076,113 (GRCm39)	H1198Q	probably damaging	Het
Adamts14	A	G	10: 61,043,239 (GRCm39)	V743A	probably damaging	Het
Adgrg6	A	G	10: 14,343,095 (GRCm39)	V284A	possibly damaging	Het
Alb	A	G	5: 90,622,452 (GRCm39)	K560R	probably damaging	Het
Aqp9	A	T	9: 71,069,764 (GRCm39)	F8L	probably benign	Het
Arhgef7	T	C	8: 11,835,789 (GRCm39)	L182P	probably damaging	Het
Atr	A	G	9: 95,753,501 (GRCm39)	D701G	probably damaging	Het
Calr3	C	T	8: 73,185,339 (GRCm39)	D187N	probably damaging	Het
Ccdc198	A	G	14: 49,471,948 (GRCm39)	M163T	possibly damaging	Het
Ccdc65	A	G	15: 98,618,977 (GRCm39)	T319A	probably benign	Het
Ccdc66	A	T	14: 27,222,290 (GRCm39)	L151H	probably damaging	Het
Ces2e	T	A	8: 105,657,688 (GRCm39)		probably null	Het
Cfap46	A	G	7: 139,210,492 (GRCm39)		probably null	Het
Cfap74	A	G	4: 155,544,472 (GRCm39)	T1034A	unknown	Het
Cldnd1	T	G	16: 58,549,322 (GRCm39)		probably null	Het
Clec4f	C	A	6: 83,630,190 (GRCm39)	V123L	probably benign	Het
Cntn6	C	T	6: 104,627,491 (GRCm39)	T108I	probably damaging	Het
Crygn	T	G	5: 24,961,147 (GRCm39)	D53A	possibly damaging	Het
Cyp27a1	T	A	1: 74,774,594 (GRCm39)	V204E	probably damaging	Het
Cyp2c67	A	T	19: 39,597,708 (GRCm39)		probably null	Het
Ddb1	T	C	19: 10,605,195 (GRCm39)	V1061A	possibly damaging	Het
Dnah12	G	T	14: 26,488,534 (GRCm39)		probably null	Het
Draxin	T	C	4: 148,197,216 (GRCm39)	T194A	probably benign	Het
Drosha	T	A	15: 12,846,285 (GRCm39)	D473E	possibly damaging	Het
Ecpas	T	C	4: 58,827,047 (GRCm39)	T1029A	possibly damaging	Het
G6pd2	T	A	5: 61,967,562 (GRCm39)	C446S	probably benign	Het
Gm29106	C	T	1: 118,104,642 (GRCm39)	S3L	unknown	Het
Grin3a	T	C	4: 49,702,762 (GRCm39)	Y908C	probably damaging	Het
Ints2	G	A	11: 86,108,668 (GRCm39)	A893V	probably benign	Het
Ippk	C	T	13: 49,602,767 (GRCm39)	T371I	probably benign	Het
Irf2	T	A	8: 47,260,316 (GRCm39)	C83S	probably damaging	Het
Jph3	C	T	8: 122,480,441 (GRCm39)	A373V	probably benign	Het
Kcnj6	C	T	16: 94,634,073 (GRCm39)	V13I	probably benign	Het
Lama3	T	C	18: 12,640,097 (GRCm39)		probably null	Het
Lmo7	A	T	14: 102,121,640 (GRCm39)	Q235L	probably damaging	Het
Marchf7	A	G	2: 60,071,189 (GRCm39)		probably null	Het
Mfsd6l	A	T	11: 68,448,109 (GRCm39)	Y320F	possibly damaging	Het
Mroh1	T	A	15: 76,335,676 (GRCm39)	W1440R	probably benign	Het
Mrps17	G	A	5: 129,793,863 (GRCm39)	G19D	probably damaging	Het
Myt1	A	G	2: 181,444,756 (GRCm39)	H566R	possibly damaging	Het
Nav2	T	C	7: 49,201,521 (GRCm39)	L176P	possibly damaging	Het
Nop58	T	A	1: 59,737,599 (GRCm39)	C139S	probably benign	Het
Nsd1	A	G	13: 55,394,022 (GRCm39)	D644G	probably damaging	Het
Nsd2	T	A	5: 34,042,816 (GRCm39)	C1027S	probably damaging	Het
Nsmce2	A	G	15: 59,473,265 (GRCm39)	I235V	probably damaging	Het
Nyap2	T	C	1: 81,314,230 (GRCm39)	V642A	possibly damaging	Het
Or14n1-ps1	A	T	7: 86,092,328 (GRCm39)	L46F	unknown	Het
Or8g51	A	G	9: 38,609,161 (GRCm39)	V167A	probably benign	Het
Paqr7	A	G	4: 134,234,431 (GRCm39)	D96G	probably benign	Het
Parp4	A	G	14: 56,839,852 (GRCm39)	Y520C	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Piezo1	A	T	8: 123,212,463 (GRCm39)	Y1955N		Het
Pnma8a	A	G	7: 16,695,315 (GRCm39)	K390R	probably benign	Het
Prdm10	G	T	9: 31,227,537 (GRCm39)	Q47H	probably damaging	Het
Psg22	T	A	7: 18,453,499 (GRCm39)	F104I	probably benign	Het
Ptprf	T	C	4: 118,068,322 (GRCm39)	E1738G	probably damaging	Het
Rad21l	A	T	2: 151,500,365 (GRCm39)	L218Q	probably damaging	Het
Rad54l2	A	G	9: 106,583,024 (GRCm39)	I798T	probably damaging	Het
Rhbdl2	T	C	4: 123,711,659 (GRCm39)	V132A	possibly damaging	Het
Rmi1	T	A	13: 58,557,393 (GRCm39)	Y547*	probably null	Het
Rptn	A	T	3: 93,304,212 (GRCm39)	D515V	probably benign	Het
Rsph10b	A	G	5: 143,898,033 (GRCm39)	N505D	probably benign	Het
Samhd1	T	C	2: 156,948,164 (GRCm39)	D539G	probably damaging	Het
Scube3	A	T	17: 28,387,156 (GRCm39)	I885F	probably damaging	Het
Sfmbt1	A	G	14: 30,506,696 (GRCm39)	I247V	possibly damaging	Het
Slc25a21	T	C	12: 56,904,828 (GRCm39)	I62V	probably benign	Het
Slc4a11	T	A	2: 130,527,452 (GRCm39)	N648Y	probably damaging	Het
Slc7a11	A	G	3: 50,397,448 (GRCm39)	V88A	possibly damaging	Het
Slc7a8	A	C	14: 54,964,263 (GRCm39)	F397V	possibly damaging	Het
Sox12	A	C	2: 152,239,377 (GRCm39)	L81R	probably damaging	Het
Spg11	T	C	2: 121,915,474 (GRCm39)	I1057V	probably benign	Het
St8sia3	G	A	18: 64,402,987 (GRCm39)	V265I	probably benign	Het
Stxbp5	A	G	10: 9,684,874 (GRCm39)	S509P	possibly damaging	Het
Svep1	T	C	4: 58,108,323 (GRCm39)	Y1129C	probably damaging	Het
Tenm4	G	T	7: 96,523,333 (GRCm39)	R1625L	probably benign	Het
Tlr4	T	C	4: 66,758,191 (GRCm39)	F328S	possibly damaging	Het
Tmprss15	T	C	16: 78,868,164 (GRCm39)	T215A	probably benign	Het
Tmprss9	A	T	10: 80,718,504 (GRCm39)	I62L	probably benign	Het
Trpm5	C	T	7: 142,642,756 (GRCm39)	A64T	probably benign	Het
Txk	A	C	5: 72,889,109 (GRCm39)	Y148*	probably null	Het
Uba5	C	T	9: 103,932,454 (GRCm39)	G170R	possibly damaging	Het
Uggt2	A	T	14: 119,323,587 (GRCm39)	D231E	probably benign	Het
Ulk4	A	T	9: 121,077,993 (GRCm39)	D525E	probably benign	Het
Vmn1r158	T	A	7: 22,489,649 (GRCm39)	T187S	probably benign	Het
Vmn1r52	T	A	6: 90,156,605 (GRCm39)	M303K	probably benign	Het
Vmn2r54	A	G	7: 12,356,044 (GRCm39)	F454S	probably benign	Het
Zbp1	A	T	2: 173,060,546 (GRCm39)	L8*	probably null	Het
Zmym2	A	T	14: 57,181,557 (GRCm39)	D924V	probably benign	Het

Other mutations in Rgs5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01573:Rgs5	APN	1	169,504,413 (GRCm39)	missense	probably benign
R0024:Rgs5	UTSW	1	169,504,461 (GRCm39)	missense	probably damaging	0.99
R1334:Rgs5	UTSW	1	169,510,386 (GRCm39)	critical splice donor site	probably null
R1500:Rgs5	UTSW	1	169,517,983 (GRCm39)	critical splice acceptor site	probably null
R1753:Rgs5	UTSW	1	169,510,386 (GRCm39)	critical splice donor site	probably null
R1967:Rgs5	UTSW	1	169,504,425 (GRCm39)	missense	probably benign
R2409:Rgs5	UTSW	1	169,504,451 (GRCm39)	missense	possibly damaging	0.46
R3831:Rgs5	UTSW	1	169,504,470 (GRCm39)	missense	probably benign	0.06
R8864:Rgs5	UTSW	1	169,517,990 (GRCm39)	missense	probably benign
R8960:Rgs5	UTSW	1	169,504,461 (GRCm39)	missense	possibly damaging	0.81
R9776:Rgs5	UTSW	1	169,518,089 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAAGGCAAACTGCTGCTGAG -3'
(R):5'- TCCAAATCTCAGTACTGCTACAGAC -3'

Sequencing Primer
(F):5'- AAACTGCTGCTGAGCTCCAG -3'
(R):5'- TCTCAGTACTGCTACAGACAAGAC -3'

Posted On

2019-09-13