Incidental Mutation 'R4572:Rgs14'
ID 342220
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 041796-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R4572 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 55517545-55532500 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55527875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 266 (N266I)
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: N266I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068731
Gene: ENSMUSG00000052087
AA Change: N266I

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 0.1540 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (71/71)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,107,374 (GRCm39) I747N probably benign Het
Adamtsl2 A G 2: 26,973,268 (GRCm39) Y97C probably damaging Het
Alox12e A G 11: 70,212,007 (GRCm39) probably benign Het
Alpk2 A T 18: 65,414,075 (GRCm39) S2014T probably damaging Het
Ankrd36 A T 11: 5,639,340 (GRCm39) probably null Het
Apobec1 T C 6: 122,558,356 (GRCm39) D133G probably damaging Het
Arfgef1 A T 1: 10,283,366 (GRCm39) I181N probably damaging Het
Cilp2 A G 8: 70,335,060 (GRCm39) V646A probably damaging Het
Clasrp A G 7: 19,318,389 (GRCm39) probably null Het
Cnot2 T C 10: 116,330,751 (GRCm39) T423A probably benign Het
Crtap T C 9: 114,213,874 (GRCm39) D227G probably benign Het
Cyp17a1 A G 19: 46,658,990 (GRCm39) F217S probably damaging Het
Ddx60 A G 8: 62,440,455 (GRCm39) M1036V probably damaging Het
Dnah11 A T 12: 117,973,860 (GRCm39) I2818N probably benign Het
Dok6 T A 18: 89,492,071 (GRCm39) I169F possibly damaging Het
Duox2 T A 2: 122,112,207 (GRCm39) R1326S probably benign Het
Epha10 A G 4: 124,796,361 (GRCm39) T357A unknown Het
Ephb2 A C 4: 136,383,251 (GRCm39) F942C probably damaging Het
Fscn3 T A 6: 28,430,634 (GRCm39) probably null Het
Gabrb2 A G 11: 42,484,744 (GRCm39) N267S possibly damaging Het
Gabrr3 A T 16: 59,282,001 (GRCm39) Y452F probably benign Het
Gen1 A G 12: 11,292,419 (GRCm39) S457P probably damaging Het
Gm1993 C T X: 25,515,656 (GRCm39) R77H probably damaging Het
Gm5592 G A 7: 40,865,583 (GRCm39) probably benign Het
Hmbox1 A G 14: 65,140,682 (GRCm39) probably null Het
Hus1 A T 11: 8,957,617 (GRCm39) probably null Het
Ino80 G A 2: 119,232,839 (GRCm39) R1160W probably damaging Het
Kalrn A T 16: 34,212,412 (GRCm39) F27L probably damaging Het
Kri1 A T 9: 21,191,680 (GRCm39) F187L probably damaging Het
Lekr1 A T 3: 65,691,336 (GRCm39) noncoding transcript Het
Mapk15 T C 15: 75,870,599 (GRCm39) probably benign Het
Mrgpre G A 7: 143,334,841 (GRCm39) L221F probably damaging Het
Mrpl50 A T 4: 49,514,399 (GRCm39) S91T possibly damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Mup15 A G 4: 61,356,454 (GRCm39) probably null Het
Ncapd3 A G 9: 27,005,911 (GRCm39) D1469G probably damaging Het
Nlrp9b G A 7: 19,760,606 (GRCm39) probably null Het
Npy6r A T 18: 44,408,984 (GRCm39) Y135F probably benign Het
Or7e170 A C 9: 19,795,275 (GRCm39) C109G probably benign Het
Phf14 G A 6: 12,006,823 (GRCm39) R825Q probably damaging Het
Pigg A G 5: 108,480,751 (GRCm39) M379V probably benign Het
Plppr3 T A 10: 79,701,897 (GRCm39) Q315L probably benign Het
Plxnd1 C A 6: 115,932,717 (GRCm39) C1921F probably damaging Het
Ptger4 A C 15: 5,272,614 (GRCm39) S2A probably benign Het
Qrfprl A T 6: 65,431,975 (GRCm39) M293L probably benign Het
Rab4a A T 8: 124,560,799 (GRCm39) D196V probably benign Het
Rbck1 G A 2: 152,160,653 (GRCm39) Q428* probably null Het
Serpina1c A T 12: 103,864,967 (GRCm39) probably benign Het
Sesn3 G A 9: 14,232,516 (GRCm39) R263H probably benign Het
Slfn1 A T 11: 83,012,289 (GRCm39) D135V probably benign Het
Spata17 T C 1: 186,926,193 (GRCm39) K46E possibly damaging Het
Srcin1 A C 11: 97,425,760 (GRCm39) D432E probably damaging Het
Stxbp5 T C 10: 9,713,888 (GRCm39) E217G probably damaging Het
Terf2ip A G 8: 112,738,649 (GRCm39) D179G probably damaging Het
Tll1 A G 8: 64,509,343 (GRCm39) F556L possibly damaging Het
Tmed4 CTCTTTCT CTCT 11: 6,224,461 (GRCm39) probably null Het
Trappc9 G T 15: 72,808,916 (GRCm39) Q537K possibly damaging Het
Trim30a G T 7: 104,060,395 (GRCm39) C460* probably null Het
Trim35 T C 14: 66,545,322 (GRCm39) Y298H probably damaging Het
Ugt3a1 T A 15: 9,306,479 (GRCm39) H209Q probably benign Het
Ulk4 T C 9: 121,021,830 (GRCm39) K627R probably damaging Het
Wnk1 T C 6: 119,928,872 (GRCm39) T1319A possibly damaging Het
Wnt9b G A 11: 103,622,981 (GRCm39) R141C probably damaging Het
Zfp735 A G 11: 73,580,611 (GRCm39) M37V probably benign Het
Zmym1 A T 4: 126,944,628 (GRCm39) N186K probably benign Het
Other mutations in Rgs14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01820:Rgs14 APN 13 55,531,338 (GRCm39) missense probably benign 0.04
IGL02691:Rgs14 APN 13 55,526,836 (GRCm39) splice site probably null
R1655:Rgs14 UTSW 13 55,531,347 (GRCm39) missense probably benign 0.00
R1716:Rgs14 UTSW 13 55,526,696 (GRCm39) missense probably damaging 0.99
R1839:Rgs14 UTSW 13 55,530,651 (GRCm39) unclassified probably benign
R2014:Rgs14 UTSW 13 55,531,513 (GRCm39) nonsense probably null
R3851:Rgs14 UTSW 13 55,527,427 (GRCm39) missense possibly damaging 0.77
R4008:Rgs14 UTSW 13 55,517,726 (GRCm39) missense probably damaging 0.99
R4299:Rgs14 UTSW 13 55,531,566 (GRCm39) missense probably damaging 1.00
R4801:Rgs14 UTSW 13 55,528,770 (GRCm39) missense probably damaging 1.00
R4802:Rgs14 UTSW 13 55,528,770 (GRCm39) missense probably damaging 1.00
R7136:Rgs14 UTSW 13 55,527,508 (GRCm39) splice site probably null
R7142:Rgs14 UTSW 13 55,527,417 (GRCm39) missense probably damaging 0.99
R7207:Rgs14 UTSW 13 55,531,047 (GRCm39) missense probably benign 0.00
R7701:Rgs14 UTSW 13 55,527,138 (GRCm39) missense probably damaging 1.00
R8021:Rgs14 UTSW 13 55,531,569 (GRCm39) missense probably damaging 0.97
R8405:Rgs14 UTSW 13 55,530,962 (GRCm39) missense probably damaging 1.00
R8985:Rgs14 UTSW 13 55,531,234 (GRCm39) unclassified probably benign
R9120:Rgs14 UTSW 13 55,528,792 (GRCm39) missense probably damaging 1.00
R9706:Rgs14 UTSW 13 55,531,934 (GRCm39) missense probably benign 0.01
R9731:Rgs14 UTSW 13 55,528,784 (GRCm39) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-09-24