Incidental Mutation 'IGL03365:Rgs3'
ID 420050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rgs3
Ensembl Gene ENSMUSG00000059810
Gene Name regulator of G-protein signaling 3
Synonyms C2pa, PDZ-RGS3, RGS3S, C2PA-RGS3, 4930506N09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL03365
Quality Score
Status
Chromosome 4
Chromosomal Location 62559847-62704001 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62689675 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 59 (D59E)
Ref Sequence ENSEMBL: ENSMUSP00000116041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084521] [ENSMUST00000107420] [ENSMUST00000124082] [ENSMUST00000126338]
AlphaFold Q9DC04
Predicted Effect probably benign
Transcript: ENSMUST00000084521
AA Change: D457E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
AA Change: D457E

DomainStartEndE-ValueType
PDZ 26 95 8.09e-10 SMART
low complexity region 288 298 N/A INTRINSIC
internal_repeat_1 407 447 2.05e-9 PROSPERO
internal_repeat_1 456 501 2.05e-9 PROSPERO
low complexity region 645 674 N/A INTRINSIC
RGS 841 957 3.66e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107420
AA Change: D59E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103043
Gene: ENSMUSG00000059810
AA Change: D59E

DomainStartEndE-ValueType
internal_repeat_1 9 49 1.41e-9 PROSPERO
internal_repeat_1 58 103 1.41e-9 PROSPERO
low complexity region 247 276 N/A INTRINSIC
RGS 443 559 3.66e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124082
AA Change: D59E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115192
Gene: ENSMUSG00000059810
AA Change: D59E

DomainStartEndE-ValueType
low complexity region 247 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126338
AA Change: D59E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116041
Gene: ENSMUSG00000059810
AA Change: D59E

DomainStartEndE-ValueType
internal_repeat_1 9 49 1.09e-5 PROSPERO
internal_repeat_1 58 103 1.09e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138674
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144489
Coding Region Coverage
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 regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T G 5: 24,997,811 probably benign Het
5830411N06Rik T A 7: 140,296,769 V691E probably damaging Het
Adam6a T A 12: 113,544,145 I46N possibly damaging Het
Adipor1 A G 1: 134,431,642 D371G possibly damaging Het
Akr1c21 C T 13: 4,583,852 P307S probably benign Het
Asxl1 T A 2: 153,401,754 I1408N probably damaging Het
Avil T C 10: 127,010,983 V472A probably damaging Het
Bpifa6 C A 2: 153,989,284 Q257K possibly damaging Het
Cacna2d4 G T 6: 119,271,264 V380L probably benign Het
Clip1 A C 5: 123,583,586 S1111A probably damaging Het
Dennd4c A G 4: 86,807,426 probably null Het
Dock8 C T 19: 25,099,684 P506L possibly damaging Het
Ecsit A C 9: 22,076,526 H72Q probably damaging Het
Eif1b T A 9: 120,494,120 D15E probably benign Het
Enpp1 A G 10: 24,669,025 Y319H probably damaging Het
Fam126a A T 5: 23,983,160 Y245N probably benign Het
Fat3 T C 9: 15,996,469 N2746D probably damaging Het
Fgf20 G T 8: 40,279,891 L115I possibly damaging Het
Hip1r C T 5: 124,000,167 R775W probably damaging Het
Lrp12 A T 15: 39,872,521 S672T probably benign Het
Morf4l2 A G X: 136,733,715 Y255H probably benign Het
Mri1 A G 8: 84,251,633 V343A possibly damaging Het
Mybphl T A 3: 108,364,998 M1K probably null Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Ofd1 C A X: 166,392,516 V951F probably damaging Het
Olfr1301 G T 2: 111,754,427 M59I possibly damaging Het
Olfr550 G T 7: 102,578,629 V45F probably benign Het
Olfr784 T A 10: 129,388,239 V202D possibly damaging Het
Parp12 G A 6: 39,102,647 R310W probably damaging Het
Pcdh11x T A X: 120,516,238 D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 probably benign Het
Ptprz1 T A 6: 23,030,582 probably benign Het
Qser1 T A 2: 104,786,999 N1156I probably damaging Het
Rims2 T C 15: 39,476,541 F917S probably damaging Het
Sap30bp G A 11: 115,964,252 V263M possibly damaging Het
Scfd2 G T 5: 74,530,935 H229N possibly damaging Het
Sspo T C 6: 48,459,415 V1233A possibly damaging Het
Stam T A 2: 14,146,390 Y519* probably null Het
Svs1 A G 6: 48,988,597 D513G probably damaging Het
Synj2 A G 17: 6,019,404 T602A probably damaging Het
Tas2r126 C T 6: 42,435,457 A308V probably benign Het
Tm4sf20 T C 1: 82,768,227 probably benign Het
Ttc23 G A 7: 67,662,337 probably benign Het
Vmn1r90 T C 7: 14,561,304 I290V probably damaging Het
Xirp1 A C 9: 120,018,539 L426W probably damaging Het
Zgrf1 T G 3: 127,598,774 F430L possibly damaging Het
Other mutations in Rgs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Rgs3 APN 4 62701180 missense possibly damaging 0.87
IGL00918:Rgs3 APN 4 62701067 missense probably damaging 1.00
IGL01594:Rgs3 APN 4 62619744 missense probably damaging 0.99
IGL01761:Rgs3 APN 4 62652709 splice site probably benign
IGL02995:Rgs3 APN 4 62625847 missense possibly damaging 0.95
R0098:Rgs3 UTSW 4 62625906 missense probably damaging 1.00
R0098:Rgs3 UTSW 4 62625906 missense probably damaging 1.00
R0158:Rgs3 UTSW 4 62623884 missense probably damaging 1.00
R0609:Rgs3 UTSW 4 62625936 missense probably damaging 1.00
R0633:Rgs3 UTSW 4 62625906 missense probably damaging 1.00
R0637:Rgs3 UTSW 4 62646673 splice site probably benign
R0893:Rgs3 UTSW 4 62605561 splice site probably null
R1612:Rgs3 UTSW 4 62625935 missense probably damaging 0.99
R1929:Rgs3 UTSW 4 62702147 missense probably damaging 1.00
R2202:Rgs3 UTSW 4 62690504 missense probably damaging 1.00
R2239:Rgs3 UTSW 4 62625887 missense probably benign 0.30
R2380:Rgs3 UTSW 4 62625887 missense probably benign 0.30
R2974:Rgs3 UTSW 4 62640720 missense probably damaging 1.00
R4871:Rgs3 UTSW 4 62631295 missense probably benign 0.01
R5229:Rgs3 UTSW 4 62702187 missense probably damaging 1.00
R5372:Rgs3 UTSW 4 62652697 intron probably benign
R5597:Rgs3 UTSW 4 62623845 missense probably damaging 1.00
R6006:Rgs3 UTSW 4 62623906 missense probably damaging 1.00
R6056:Rgs3 UTSW 4 62625906 missense probably damaging 0.96
R6732:Rgs3 UTSW 4 62602943 missense probably benign 0.00
R6962:Rgs3 UTSW 4 62700715 intron probably benign
R7141:Rgs3 UTSW 4 62690487 missense probably damaging 1.00
R7156:Rgs3 UTSW 4 62617126 missense probably damaging 0.99
R7193:Rgs3 UTSW 4 62615336 missense probably damaging 0.99
R7459:Rgs3 UTSW 4 62625154 missense probably benign 0.01
R7660:Rgs3 UTSW 4 62701112 missense possibly damaging 0.94
R7697:Rgs3 UTSW 4 62657142 missense probably benign 0.00
R8025:Rgs3 UTSW 4 62690594 missense probably damaging 0.97
R8059:Rgs3 UTSW 4 62602977 splice site probably benign
R8242:Rgs3 UTSW 4 62619785 missense probably benign
R8413:Rgs3 UTSW 4 62626017 missense possibly damaging 0.54
R8489:Rgs3 UTSW 4 62626496 missense probably damaging 1.00
R8501:Rgs3 UTSW 4 62602956 missense possibly damaging 0.85
R8880:Rgs3 UTSW 4 62625136 missense probably damaging 1.00
R9065:Rgs3 UTSW 4 62702228 missense probably benign 0.05
R9094:Rgs3 UTSW 4 62582003 missense probably damaging 1.00
R9318:Rgs3 UTSW 4 62640782 missense probably benign 0.05
R9483:Rgs3 UTSW 4 62657117 nonsense probably null
R9498:Rgs3 UTSW 4 62657175 missense probably damaging 1.00
R9522:Rgs3 UTSW 4 62605492 missense probably benign 0.12
Z1177:Rgs3 UTSW 4 62631214 missense possibly damaging 0.67
Posted On 2016-08-02