Mutagenetix > Incidental Mutation

Incidental Mutation 'R6809:Rgs22'

533726

Institutional Source

Beutler Lab

Gene Symbol

Rgs22

Ensembl Gene

ENSMUSG00000037627

Gene Name

regulator of G-protein signalling 22

Synonyms

MMRRC Submission

044922-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6809 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36009625-36140546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 36048910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 914 (S914T)

Ref Sequence

ENSEMBL: ENSMUSP00000134259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172831]

AlphaFold

G3UYX5

Predicted Effect

probably benign
Transcript: ENSMUST00000172737

SMART Domains

Protein: ENSMUSP00000133508
Gene: ENSMUSG00000037627

Domain	Start	End	E-Value	Type
Blast:RGS	231	262	1e-13	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000172831
AA Change: S914T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: S914T

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
low complexity region	62	76	N/A	INTRINSIC
low complexity region	173	179	N/A	INTRINSIC
low complexity region	376	391	N/A	INTRINSIC
RGS	845	973	3.15e-2	SMART
RGS	1014	1134	1.56e-15	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

96% (51/53)

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	T	A	1: 192,857,089 (GRCm39)	V147E	possibly damaging	Het
Abtb3	A	G	10: 85,467,240 (GRCm39)	T732A	probably benign	Het
Adgrv1	A	T	13: 81,621,072 (GRCm39)	M3893K	probably benign	Het
Aox3	T	C	1: 58,157,840 (GRCm39)	S66P	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Bloc1s5	A	G	13: 38,787,961 (GRCm39)	V141A	probably benign	Het
Bltp1	A	G	3: 36,928,431 (GRCm39)	N61S	probably damaging	Het
Col28a1	T	C	6: 7,999,468 (GRCm39)	Y1083C	probably damaging	Het
Crb1	A	G	1: 139,170,864 (GRCm39)	V842A	probably benign	Het
Dapk1	A	G	13: 60,899,103 (GRCm39)	S858G	probably benign	Het
Dlgap2	G	T	8: 14,229,619 (GRCm39)		probably benign	Het
Dpysl4	A	G	7: 138,673,576 (GRCm39)	D199G	probably benign	Het
Eml6	C	T	11: 29,753,161 (GRCm39)	V917I	probably benign	Het
Fut9	T	A	4: 25,620,647 (GRCm39)	T56S	probably benign	Het
Gtdc1	G	C	2: 44,465,563 (GRCm39)	S214*	probably null	Het
Gtdc1	A	G	2: 44,715,396 (GRCm39)	F49S	probably damaging	Het
Hoxd9	A	G	2: 74,529,590 (GRCm39)	Y282C	probably damaging	Het
Hrc	A	G	7: 44,985,803 (GRCm39)	E318G	probably benign	Het
Ikzf2	T	C	1: 69,609,661 (GRCm39)	T195A	probably damaging	Het
Krt36	A	T	11: 99,996,335 (GRCm39)	S30T	probably benign	Het
Lrp1	A	G	10: 127,390,925 (GRCm39)	F2991L	probably benign	Het
Lrrc34	T	A	3: 30,688,749 (GRCm39)	Q184L	possibly damaging	Het
Mapk1	A	T	16: 16,853,326 (GRCm39)	M49L	probably benign	Het
Mroh2a	G	T	1: 88,162,938 (GRCm39)	Q360H	probably benign	Het
Mrpl48	A	G	7: 100,195,574 (GRCm39)		probably benign	Het
Ncln	A	G	10: 81,323,512 (GRCm39)		probably null	Het
Nol4	T	A	18: 23,053,882 (GRCm39)	Q96L	probably damaging	Het
Or2y1e	G	T	11: 49,218,687 (GRCm39)	V150L	probably benign	Het
Or5g25	G	A	2: 85,478,317 (GRCm39)	A116V	probably damaging	Het
Padi2	A	G	4: 140,674,077 (GRCm39)		probably null	Het
Pak5	T	G	2: 135,939,501 (GRCm39)	I545L	possibly damaging	Het
Paqr5	T	A	9: 61,876,064 (GRCm39)	R157W	probably null	Het
Pard3b	G	A	1: 62,200,340 (GRCm39)	R293H	probably damaging	Het
Phf11d	C	A	14: 59,593,844 (GRCm39)	C110F	probably damaging	Het
Pkn2	G	A	3: 142,504,765 (GRCm39)	P804S	probably damaging	Het
Pnpla6	G	A	8: 3,584,611 (GRCm39)	C743Y	possibly damaging	Het
Pramel14	A	G	4: 143,719,651 (GRCm39)	V238A	probably benign	Het
Pramel58	C	A	5: 94,831,277 (GRCm39)	Q95K	probably benign	Het
Psip1	A	G	4: 83,386,879 (GRCm39)	M164T	probably benign	Het
Rufy4	G	A	1: 74,172,206 (GRCm39)	V310I	probably benign	Het
Ryr2	G	A	13: 11,741,816 (GRCm39)	L2122F	probably damaging	Het
Sgcb	T	G	5: 73,798,036 (GRCm39)	N142T	probably benign	Het
Slc27a6	A	G	18: 58,738,126 (GRCm39)	E394G	probably benign	Het
Slc29a2	T	C	19: 5,079,271 (GRCm39)	V298A	probably damaging	Het
Slf2	C	A	19: 44,931,907 (GRCm39)	T654N	probably damaging	Het
Spata4	A	C	8: 55,055,368 (GRCm39)	K123Q	possibly damaging	Het
Taar7b	T	C	10: 23,876,756 (GRCm39)	V307A	probably benign	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Ttn	T	C	2: 76,693,983 (GRCm39)	E295G	possibly damaging	Het
Ubqln4	A	T	3: 88,462,679 (GRCm39)	Q48L	possibly damaging	Het
Ugt1a10	T	A	1: 87,983,647 (GRCm39)	D148E	probably damaging	Het
Vmn2r85	T	A	10: 130,261,795 (GRCm39)	N181Y	probably benign	Het
Wdfy3	C	T	5: 102,071,813 (GRCm39)	V1026I	possibly damaging	Het

Other mutations in Rgs22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Rgs22	APN	15	36,100,077 (GRCm39)	missense	possibly damaging	0.93
IGL00594:Rgs22	APN	15	36,083,777 (GRCm39)	missense	probably benign	0.00
IGL01464:Rgs22	APN	15	36,083,787 (GRCm39)	missense	possibly damaging	0.90
IGL01686:Rgs22	APN	15	36,103,981 (GRCm39)	missense	probably benign	0.00
IGL01761:Rgs22	APN	15	36,103,897 (GRCm39)	missense	probably damaging	0.99
IGL02045:Rgs22	APN	15	36,013,300 (GRCm39)	missense	probably benign	0.33
IGL02378:Rgs22	APN	15	36,103,951 (GRCm39)	missense	probably benign	0.00
IGL02490:Rgs22	APN	15	36,054,993 (GRCm39)	missense	probably damaging	1.00
IGL03219:Rgs22	APN	15	36,107,194 (GRCm39)	missense	probably damaging	1.00
IGL03229:Rgs22	APN	15	36,015,925 (GRCm39)	splice site	probably benign
IGL03328:Rgs22	APN	15	36,043,350 (GRCm39)	critical splice donor site	probably null
3-1:Rgs22	UTSW	15	36,100,182 (GRCm39)	missense	possibly damaging	0.48
R0254:Rgs22	UTSW	15	36,104,698 (GRCm39)	missense	probably damaging	0.99
R0463:Rgs22	UTSW	15	36,093,084 (GRCm39)	missense	probably damaging	1.00
R0467:Rgs22	UTSW	15	36,099,941 (GRCm39)	nonsense	probably null
R0486:Rgs22	UTSW	15	36,093,028 (GRCm39)	missense	probably damaging	0.98
R0554:Rgs22	UTSW	15	36,054,855 (GRCm39)	missense	probably benign	0.10
R0602:Rgs22	UTSW	15	36,140,018 (GRCm39)	splice site	probably benign
R0906:Rgs22	UTSW	15	36,104,048 (GRCm39)	intron	probably benign
R1159:Rgs22	UTSW	15	36,040,839 (GRCm39)	missense	probably damaging	1.00
R1300:Rgs22	UTSW	15	36,101,908 (GRCm39)	missense	probably benign	0.43
R1439:Rgs22	UTSW	15	36,025,939 (GRCm39)	splice site	probably benign
R1491:Rgs22	UTSW	15	36,093,047 (GRCm39)	missense	probably damaging	0.98
R1502:Rgs22	UTSW	15	36,080,997 (GRCm39)	missense	probably damaging	1.00
R1514:Rgs22	UTSW	15	36,013,246 (GRCm39)	missense	probably benign	0.00
R1538:Rgs22	UTSW	15	36,048,922 (GRCm39)	missense	probably damaging	1.00
R1784:Rgs22	UTSW	15	36,087,582 (GRCm39)	missense	probably damaging	1.00
R1938:Rgs22	UTSW	15	36,101,950 (GRCm39)	missense	probably benign	0.00
R1972:Rgs22	UTSW	15	36,103,982 (GRCm39)	missense	probably benign	0.01
R2109:Rgs22	UTSW	15	36,099,880 (GRCm39)	nonsense	probably null
R2208:Rgs22	UTSW	15	36,050,378 (GRCm39)	missense	probably benign	0.01
R3696:Rgs22	UTSW	15	36,100,038 (GRCm39)	missense	probably benign	0.00
R3697:Rgs22	UTSW	15	36,100,038 (GRCm39)	missense	probably benign	0.00
R3698:Rgs22	UTSW	15	36,100,038 (GRCm39)	missense	probably benign	0.00
R3879:Rgs22	UTSW	15	36,107,051 (GRCm39)	missense	possibly damaging	0.52
R4080:Rgs22	UTSW	15	36,107,222 (GRCm39)	missense	probably damaging	1.00
R4363:Rgs22	UTSW	15	36,104,020 (GRCm39)	missense	probably damaging	0.99
R4591:Rgs22	UTSW	15	36,100,282 (GRCm39)	missense	probably benign	0.01
R4673:Rgs22	UTSW	15	36,100,079 (GRCm39)	missense	probably benign	0.04
R4829:Rgs22	UTSW	15	36,104,034 (GRCm39)	missense	probably damaging	1.00
R4831:Rgs22	UTSW	15	36,050,294 (GRCm39)	missense	probably benign	0.00
R4865:Rgs22	UTSW	15	36,100,358 (GRCm39)	missense	probably damaging	1.00
R4907:Rgs22	UTSW	15	36,087,570 (GRCm39)	missense	possibly damaging	0.61
R4944:Rgs22	UTSW	15	36,026,088 (GRCm39)	missense	possibly damaging	0.83
R4975:Rgs22	UTSW	15	36,055,022 (GRCm39)	nonsense	probably null
R5056:Rgs22	UTSW	15	36,050,391 (GRCm39)	splice site	probably null
R5126:Rgs22	UTSW	15	36,040,790 (GRCm39)	missense	probably damaging	0.96
R5138:Rgs22	UTSW	15	36,099,934 (GRCm39)	missense	probably benign	0.04
R5444:Rgs22	UTSW	15	36,015,773 (GRCm39)	missense	possibly damaging	0.83
R5507:Rgs22	UTSW	15	36,099,798 (GRCm39)	missense	probably damaging	0.99
R5640:Rgs22	UTSW	15	36,107,101 (GRCm39)	missense	probably benign	0.00
R5969:Rgs22	UTSW	15	36,015,782 (GRCm39)	missense	probably benign	0.00
R6005:Rgs22	UTSW	15	36,010,713 (GRCm39)	missense	probably benign	0.39
R6053:Rgs22	UTSW	15	36,100,153 (GRCm39)	missense	probably benign	0.04
R6134:Rgs22	UTSW	15	36,107,194 (GRCm39)	missense	probably damaging	1.00
R6230:Rgs22	UTSW	15	36,100,176 (GRCm39)	missense	probably benign	0.02
R6295:Rgs22	UTSW	15	36,087,520 (GRCm39)	missense	probably benign	0.00
R6352:Rgs22	UTSW	15	36,093,067 (GRCm39)	missense	probably damaging	1.00
R6900:Rgs22	UTSW	15	36,010,893 (GRCm39)	missense	possibly damaging	0.61
R6947:Rgs22	UTSW	15	36,104,036 (GRCm39)	critical splice acceptor site	probably null
R7102:Rgs22	UTSW	15	36,122,459 (GRCm39)	missense	probably damaging	1.00
R7126:Rgs22	UTSW	15	36,103,954 (GRCm39)	missense	probably damaging	0.97
R7263:Rgs22	UTSW	15	36,015,789 (GRCm39)	missense	possibly damaging	0.86
R7623:Rgs22	UTSW	15	36,040,856 (GRCm39)	missense	probably benign	0.08
R7732:Rgs22	UTSW	15	36,026,127 (GRCm39)	missense	probably damaging	1.00
R7748:Rgs22	UTSW	15	36,122,415 (GRCm39)	critical splice donor site	probably null
R7771:Rgs22	UTSW	15	36,050,224 (GRCm39)	missense	possibly damaging	0.94
R7835:Rgs22	UTSW	15	36,082,057 (GRCm39)	critical splice donor site	probably null
R7849:Rgs22	UTSW	15	36,099,858 (GRCm39)	missense	probably damaging	1.00
R7954:Rgs22	UTSW	15	36,082,148 (GRCm39)	missense	possibly damaging	0.75
R8384:Rgs22	UTSW	15	36,046,158 (GRCm39)	critical splice donor site	probably null
R8516:Rgs22	UTSW	15	36,010,481 (GRCm39)	makesense	probably null
R8904:Rgs22	UTSW	15	36,026,127 (GRCm39)	missense	probably damaging	1.00
R8923:Rgs22	UTSW	15	36,093,106 (GRCm39)	missense	probably damaging	1.00
R9287:Rgs22	UTSW	15	36,098,409 (GRCm39)	missense	probably damaging	1.00
R9324:Rgs22	UTSW	15	36,087,544 (GRCm39)	missense	probably benign
R9660:Rgs22	UTSW	15	36,040,856 (GRCm39)	missense	probably benign	0.08
R9679:Rgs22	UTSW	15	36,087,587 (GRCm39)	missense	probably benign	0.00
R9728:Rgs22	UTSW	15	36,040,856 (GRCm39)	missense	probably benign	0.08
RF035:Rgs22	UTSW	15	36,010,981 (GRCm39)	critical splice acceptor site	probably benign
RF043:Rgs22	UTSW	15	36,010,982 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCGTGTGAAGCTGTGCCTG -3'
(R):5'- TGGAGAGCTATCACTAACAGGG -3'

Sequencing Primer
(F):5'- AGATGAGTGCCACTTTAGCC -3'
(R):5'- ACAGGGAATCTACTTTGTTTCCAGC -3'

Posted On

2018-09-12