Incidental Mutation 'R4299:Rgs14'
ID 323507
Institutional Source Beutler Lab
Gene Symbol Rgs14
Ensembl Gene ENSMUSG00000052087
Gene Name regulator of G-protein signaling 14
Synonyms Rap1/rap2 interacting protein
MMRRC Submission 041087-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock # R4299 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 55369732-55384687 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55383753 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 497 (T497A)
Ref Sequence ENSEMBL: ENSMUSP00000068731 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063771] [ENSMUST00000149858]
AlphaFold P97492
PDB Structure Solution structure of the Ras-binding domain of mouse RGS14 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000063771
AA Change: T497A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000068731
Gene: ENSMUSG00000052087
AA Change: T497A

RGS 67 184 3.42e-44 SMART
low complexity region 209 222 N/A INTRINSIC
low complexity region 289 299 N/A INTRINSIC
RBD 303 374 2e-26 SMART
RBD 376 446 4.53e-16 SMART
low complexity region 474 491 N/A INTRINSIC
GoLoco 500 522 1.74e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135851
Predicted Effect probably benign
Transcript: ENSMUST00000149858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224185
Meta Mutation Damage Score 0.0633 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (76/78)
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 family. This protein contains one RGS domain, two Raf-like Ras-binding domains (RBDs), and one GoLoco domain. The protein attenuates the signaling activity of G-proteins by binding, through its GoLoco domain, to specific types of activated, GTP-bound G alpha subunits. Acting as a GTPase activating protein (GAP), the protein increases the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene with one allele results in failure to complete the first zygotic cell division. Homozygous mutation of this gene with a second allele results in no obvious phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548H24Rik A G 5: 31,487,526 R208G possibly damaging Het
Abcc12 T C 8: 86,531,525 probably null Het
Akna A T 4: 63,398,032 D31E possibly damaging Het
Apbb2 A T 5: 66,313,378 H528Q probably damaging Het
Atp6v1g3 C A 1: 138,283,724 Y47* probably null Het
AW551984 T C 9: 39,592,979 T564A probably benign Het
BC048403 C A 10: 121,745,446 H117Q probably benign Het
C4b T C 17: 34,731,144 D1384G possibly damaging Het
C87499 T C 4: 88,628,182 K137E probably damaging Het
Cbfa2t2 G A 2: 154,523,928 V353I probably damaging Het
Cdh7 T C 1: 110,061,001 I211T probably damaging Het
Cep170b T C 12: 112,739,305 S1166P probably damaging Het
Col9a2 C G 4: 121,054,258 R599G probably damaging Het
Crygs G A 16: 22,805,411 Q149* probably null Het
Cyp2c70 T C 19: 40,183,928 Q90R probably benign Het
Cyp3a41b T C 5: 145,573,677 Y129C possibly damaging Het
Dnah10 A G 5: 124,819,925 T3645A probably damaging Het
Dolk A T 2: 30,285,188 W282R probably damaging Het
Dsg2 T A 18: 20,595,951 probably null Het
Dysf A G 6: 84,068,077 T297A possibly damaging Het
Flt1 G T 5: 147,683,907 D142E probably benign Het
Frmd4a C A 2: 4,333,071 N29K probably benign Het
Fxyd7 A T 7: 31,044,982 M36K probably benign Het
Gabbr1 C T 17: 37,055,900 R178* probably null Het
Gm14139 G A 2: 150,190,733 D17N probably damaging Het
Gnal C G 18: 67,088,583 P19R unknown Het
Gprc5b G A 7: 118,984,214 A144V possibly damaging Het
Il1rapl1 A T X: 87,300,707 I194N probably damaging Het
Klhl24 T C 16: 20,107,004 M94T probably damaging Het
Kmt2e T A 5: 23,464,914 I133N probably damaging Het
Macf1 A G 4: 123,399,406 I5381T probably damaging Het
Madd A G 2: 91,169,803 L197P probably damaging Het
Mapkapk3 G A 9: 107,257,449 T296M probably damaging Het
Micall2 T C 5: 139,709,471 probably benign Het
Myh9 T C 15: 77,769,964 T1214A probably benign Het
Ncapd3 A G 9: 27,052,327 N492S probably benign Het
Neurl4 A C 11: 69,909,061 D1055A probably damaging Het
Nrbp1 T C 5: 31,250,599 probably null Het
Olfr1052 A T 2: 86,298,241 I142F possibly damaging Het
Olfr27 T C 9: 39,144,999 S300P probably benign Het
Olfr380 A T 11: 73,454,001 D70E probably damaging Het
Olfr421-ps1 T A 1: 174,152,312 Y265* probably null Het
Olfr53 T C 7: 140,652,243 V88A probably benign Het
Olfr67 T A 7: 103,787,995 H94L probably benign Het
Olfr901 T G 9: 38,430,812 Y177D probably damaging Het
Olfr933 T A 9: 38,975,759 F28I probably damaging Het
Patj C A 4: 98,677,321 N1090K possibly damaging Het
Pde8a A G 7: 81,328,035 D692G probably benign Het
Ppa2 G T 3: 133,367,842 K220N probably damaging Het
Rad54b A G 4: 11,597,865 H250R probably damaging Het
Reln A C 5: 21,920,487 C2733G probably damaging Het
Rpl13-ps3 T A 14: 58,893,523 noncoding transcript Het
Scn11a T G 9: 119,765,506 I1274L probably damaging Het
Sco1 A T 11: 67,055,800 H133L possibly damaging Het
Slc4a8 T C 15: 100,796,640 probably null Het
Smc2 C T 4: 52,440,238 probably benign Het
Spata18 T C 5: 73,666,902 I156T probably benign Het
St3gal2 T C 8: 110,962,359 M177T probably benign Het
Stt3a A G 9: 36,763,344 F48L probably damaging Het
Syvn1 C T 19: 6,049,921 probably benign Het
Szt2 A G 4: 118,365,406 probably benign Het
Telo2 A T 17: 25,115,256 S6T possibly damaging Het
Tnfrsf11b T C 15: 54,252,095 M369V probably benign Het
Tnfrsf13b C G 11: 61,140,817 probably null Het
Vmn1r234 A T 17: 21,229,021 M66L probably benign Het
Vmn2r12 C A 5: 109,091,964 M244I probably benign Het
Wdfy2 T A 14: 62,925,140 L97* probably null Het
Wdr63 C T 3: 146,068,806 D429N probably damaging Het
Xrcc5 T C 1: 72,394,720 *733Q probably null Het
Zadh2 A T 18: 84,094,501 I101F possibly damaging Het
Zfp516 G A 18: 82,987,497 G842D possibly damaging Het
Zwilch A G 9: 64,155,162 probably null Het
Other mutations in Rgs14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01820:Rgs14 APN 13 55383525 missense probably benign 0.04
IGL02691:Rgs14 APN 13 55379023 splice site probably null
R1655:Rgs14 UTSW 13 55383534 missense probably benign 0.00
R1716:Rgs14 UTSW 13 55378883 missense probably damaging 0.99
R1839:Rgs14 UTSW 13 55382838 unclassified probably benign
R2014:Rgs14 UTSW 13 55383700 nonsense probably null
R3851:Rgs14 UTSW 13 55379614 missense possibly damaging 0.77
R4008:Rgs14 UTSW 13 55369913 missense probably damaging 0.99
R4572:Rgs14 UTSW 13 55380062 missense probably damaging 0.96
R4801:Rgs14 UTSW 13 55380957 missense probably damaging 1.00
R4802:Rgs14 UTSW 13 55380957 missense probably damaging 1.00
R7136:Rgs14 UTSW 13 55379695 splice site probably null
R7142:Rgs14 UTSW 13 55379604 missense probably damaging 0.99
R7207:Rgs14 UTSW 13 55383234 missense probably benign 0.00
R7701:Rgs14 UTSW 13 55379325 missense probably damaging 1.00
R8021:Rgs14 UTSW 13 55383756 missense probably damaging 0.97
R8405:Rgs14 UTSW 13 55383149 missense probably damaging 1.00
R9120:Rgs14 UTSW 13 55380979 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-06-20