Mutagenetix > Incidental Mutation

Incidental Mutation 'R6295:Rgs22'

508727

Institutional Source

Beutler Lab

Gene Symbol

Rgs22

Ensembl Gene

ENSMUSG00000037627

Gene Name

regulator of G-protein signalling 22

Synonyms

MMRRC Submission

044463-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6295 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36009625-36140546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36087520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 466 (N466S)

Ref Sequence

ENSEMBL: ENSMUSP00000134185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172831] [ENSMUST00000174881]

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 benign
Transcript: ENSMUST00000172831
AA Change: N590S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: N590S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174881
AA Change: N466S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: N466S

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
low complexity region	252	267	N/A	INTRINSIC
RGS	721	849	3.15e-2	SMART
RGS	890	1010	1.56e-15	SMART

Coding Region Coverage

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

Validation Efficiency

98% (49/50)

Allele List at MGI

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

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	C	12: 118,838,379 (GRCm39)	V1061G	probably damaging	Het
Acap1	A	G	11: 69,781,413 (GRCm39)		probably null	Het
Apbb1	A	G	7: 105,215,902 (GRCm39)	F112L	probably benign	Het
Atg9a	A	G	1: 75,161,702 (GRCm39)	S615P	probably benign	Het
Atp8a2	G	A	14: 60,249,848 (GRCm39)	R548*	probably null	Het
Bbof1	A	T	12: 84,457,942 (GRCm39)	N69I	possibly damaging	Het
Bcl2l14	T	A	6: 134,404,370 (GRCm39)	V186D	probably benign	Het
Bmp1	T	G	14: 70,728,823 (GRCm39)	Y583S	possibly damaging	Het
Boc	A	C	16: 44,312,711 (GRCm39)	S586R	probably benign	Het
Btbd9	A	T	17: 30,518,710 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,317,919 (GRCm39)	M1180V	probably damaging	Het
Ciao1	T	C	2: 127,088,376 (GRCm39)	H149R	probably damaging	Het
Cops5	T	C	1: 10,100,920 (GRCm39)		probably benign	Het
Doc2b	C	T	11: 75,671,093 (GRCm39)	R209Q	probably damaging	Het
Doc2b	T	C	11: 75,686,451 (GRCm39)	Y90C	probably benign	Het
Ep400	A	G	5: 110,901,675 (GRCm39)	F481L	probably benign	Het
Fat4	T	A	3: 39,061,229 (GRCm39)		probably null	Het
Fbxw16	T	A	9: 109,277,837 (GRCm39)		probably benign	Het
Fbxw27	T	C	9: 109,601,154 (GRCm39)	E17G	possibly damaging	Het
Gm29735	G	A	7: 141,710,367 (GRCm39)	P162S	unknown	Het
Gypa	T	G	8: 81,222,969 (GRCm39)	S24R	unknown	Het
Hdhd5	T	C	6: 120,495,485 (GRCm39)	N153D	probably benign	Het
Ibsp	C	A	5: 104,449,987 (GRCm39)		probably null	Het
Klhdc3	C	T	17: 46,988,972 (GRCm39)	V73I	probably benign	Het
Lrrc37a	T	C	11: 103,388,459 (GRCm39)	E2322G	unknown	Het
Lrrtm3	T	C	10: 63,765,913 (GRCm39)	H558R	probably benign	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mphosph9	A	G	5: 124,458,978 (GRCm39)	V64A	possibly damaging	Het
Nthl1	C	T	17: 24,857,475 (GRCm39)	R251C	probably damaging	Het
Numa1	G	A	7: 101,649,974 (GRCm39)	R1235H	probably benign	Het
Opn1sw	T	A	6: 29,379,413 (GRCm39)	Y197F	possibly damaging	Het
Or10a3m	T	C	7: 108,312,845 (GRCm39)	V95A	probably damaging	Het
Pcca	A	T	14: 122,896,187 (GRCm39)	I268F	probably benign	Het
Per2	A	T	1: 91,377,594 (GRCm39)	D76E	unknown	Het
Pfas	T	C	11: 68,888,825 (GRCm39)	N374S	probably benign	Het
Pomk	C	A	8: 26,472,955 (GRCm39)	V333F	probably damaging	Het
Ptgfr	T	C	3: 151,540,926 (GRCm39)	E194G	probably benign	Het
Ptpn14	C	T	1: 189,582,997 (GRCm39)	P615S	probably damaging	Het
Pyroxd1	T	C	6: 142,300,479 (GRCm39)	I203T	probably benign	Het
Rpl3l	G	A	17: 24,952,966 (GRCm39)	V309I	probably benign	Het
Rtkn2	C	T	10: 67,815,529 (GRCm39)		probably benign	Het
Sec16a	C	T	2: 26,318,253 (GRCm39)	A1613T	probably damaging	Het
Sis	T	A	3: 72,874,103 (GRCm39)	T33S	probably damaging	Het
Slc22a4	C	A	11: 53,898,634 (GRCm39)	V153F	possibly damaging	Het
Stxbp1	C	G	2: 32,684,621 (GRCm39)	E603Q	probably damaging	Het
Tiam2	A	G	17: 3,559,831 (GRCm39)	S1291G	probably damaging	Het
Tmem94	T	A	11: 115,687,572 (GRCm39)	L1144M	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Vmn1r201	T	C	13: 22,659,533 (GRCm39)	V249A	probably benign	Het
Wdr7	T	A	18: 63,888,182 (GRCm39)	C552S	probably 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
R6352:Rgs22	UTSW	15	36,093,067 (GRCm39)	missense	probably damaging	1.00
R6809:Rgs22	UTSW	15	36,048,910 (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'- TCTGGGGTTCTTCTAACTTAGAGC -3'
(R):5'- GTGGGCTGACGGTTGAAATC -3'

Sequencing Primer
(F):5'- CTTCTAACTTAGAGCAGGCAGGTC -3'
(R):5'- CCACAGCAAGTTGAGGTATACATGC -3'

Posted On

2018-04-02