Incidental Mutation 'R6681:Sgsm2'
ID 527510
Institutional Source Beutler Lab
Gene Symbol Sgsm2
Ensembl Gene ENSMUSG00000038351
Gene Name small G protein signaling modulator 2
Synonyms D630003G22Rik, Rutbc1
MMRRC Submission 044800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R6681 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 74740087-74787886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74756204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 382 (W382R)
Ref Sequence ENSEMBL: ENSMUSP00000080489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057631] [ENSMUST00000081799]
AlphaFold Q80U12
Predicted Effect probably damaging
Transcript: ENSMUST00000057631
AA Change: W382R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351
AA Change: W382R

DomainStartEndE-ValueType
RUN 128 188 4.3e-18 SMART
low complexity region 453 476 N/A INTRINSIC
TBC 563 965 3.57e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000081799
AA Change: W382R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351
AA Change: W382R

DomainStartEndE-ValueType
RUN 128 188 4.3e-18 SMART
low complexity region 446 453 N/A INTRINSIC
low complexity region 498 521 N/A INTRINSIC
TBC 608 1010 3.57e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184562
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,915,447 (GRCm39) T971S probably damaging Het
Catsperb C T 12: 101,590,994 (GRCm39) Q1021* probably null Het
Ccdc62 A G 5: 124,072,156 (GRCm39) T62A probably benign Het
Cuzd1 A G 7: 130,913,412 (GRCm39) S402P probably damaging Het
Dcun1d1 C T 3: 35,949,819 (GRCm39) V244M probably damaging Het
Dennd2c A G 3: 103,038,977 (GRCm39) T42A probably benign Het
Dnah7a T C 1: 53,560,385 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dpp4 A T 2: 62,178,893 (GRCm39) F607L probably benign Het
Ech1 C T 7: 28,529,763 (GRCm39) probably null Het
Fam53a A G 5: 33,765,184 (GRCm39) L174P probably damaging Het
Fh1 T C 1: 175,446,690 (GRCm39) D62G probably null Het
Gpatch11 T C 17: 79,147,528 (GRCm39) I103T probably damaging Het
Hmgcll1 A T 9: 75,988,731 (GRCm39) T169S probably benign Het
Kbtbd3 A T 9: 4,330,687 (GRCm39) I354F probably benign Het
Kdm5b T C 1: 134,541,007 (GRCm39) F700L possibly damaging Het
Mamdc4 C A 2: 25,457,756 (GRCm39) G439V probably damaging Het
Mrps30 A T 13: 118,517,134 (GRCm39) S362T probably damaging Het
Mug1 C T 6: 121,815,683 (GRCm39) S29L possibly damaging Het
Myh2 G A 11: 67,069,174 (GRCm39) D328N probably damaging Het
Or10j3b C A 1: 173,043,973 (GRCm39) H252N probably damaging Het
Or5b98 A G 19: 12,931,823 (GRCm39) Y290C probably damaging Het
Or5j1 T C 2: 86,878,942 (GRCm39) T213A probably benign Het
Or8g54 T A 9: 39,706,710 (GRCm39) I13N probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pira13 T A 7: 3,825,251 (GRCm39) M464L probably benign Het
Pus7l G A 15: 94,425,746 (GRCm39) P552S probably benign Het
Rest A G 5: 77,428,844 (GRCm39) K421R probably damaging Het
Rttn C A 18: 89,032,735 (GRCm39) H668N probably damaging Het
Scn9a T C 2: 66,393,686 (GRCm39) I228V possibly damaging Het
Scp2 G T 4: 107,948,513 (GRCm39) Q155K probably damaging Het
Sec61a2 G A 2: 5,881,219 (GRCm39) R18* probably null Het
Serpinb8 T A 1: 107,525,321 (GRCm39) M41K probably damaging Het
Slc26a10 G T 10: 127,009,530 (GRCm39) T606N possibly damaging Het
Slc30a6 T C 17: 74,711,027 (GRCm39) I40T possibly damaging Het
Slfn5 G A 11: 82,847,204 (GRCm39) E30K possibly damaging Het
Sorcs2 C A 5: 36,555,154 (GRCm39) R79L probably benign Het
Tmc5 G A 7: 118,268,527 (GRCm39) S865N probably damaging Het
Tmprss11c T A 5: 86,437,119 (GRCm39) M1L possibly damaging Het
Trpv5 C G 6: 41,630,288 (GRCm39) E601Q probably damaging Het
Ttc39b A T 4: 83,158,285 (GRCm39) probably benign Het
Ttll6 T A 11: 96,029,689 (GRCm39) C201S probably damaging Het
Vezt A G 10: 93,832,859 (GRCm39) V204A probably benign Het
Vmn1r45 T A 6: 89,910,985 (GRCm39) probably benign Het
Zfp433 A T 10: 81,556,722 (GRCm39) H408L probably damaging Het
Zfp865 T C 7: 5,032,450 (GRCm39) I145T possibly damaging Het
Other mutations in Sgsm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Sgsm2 APN 11 74,744,697 (GRCm39) missense possibly damaging 0.91
IGL02164:Sgsm2 APN 11 74,756,242 (GRCm39) missense possibly damaging 0.90
IGL02236:Sgsm2 APN 11 74,750,698 (GRCm39) missense probably damaging 1.00
IGL02330:Sgsm2 APN 11 74,749,493 (GRCm39) missense probably benign 0.01
IGL02352:Sgsm2 APN 11 74,782,900 (GRCm39) splice site probably benign
IGL02359:Sgsm2 APN 11 74,782,900 (GRCm39) splice site probably benign
IGL03061:Sgsm2 APN 11 74,741,962 (GRCm39) missense probably damaging 1.00
IGL03180:Sgsm2 APN 11 74,759,401 (GRCm39) critical splice donor site probably null
R0208:Sgsm2 UTSW 11 74,759,067 (GRCm39) missense probably damaging 1.00
R0433:Sgsm2 UTSW 11 74,749,016 (GRCm39) splice site probably null
R0517:Sgsm2 UTSW 11 74,758,477 (GRCm39) missense possibly damaging 0.62
R0755:Sgsm2 UTSW 11 74,756,323 (GRCm39) missense probably damaging 1.00
R1439:Sgsm2 UTSW 11 74,759,964 (GRCm39) missense probably benign 0.34
R1527:Sgsm2 UTSW 11 74,744,674 (GRCm39) nonsense probably null
R1713:Sgsm2 UTSW 11 74,787,652 (GRCm39) missense probably null 0.04
R1962:Sgsm2 UTSW 11 74,782,854 (GRCm39) missense probably damaging 1.00
R2189:Sgsm2 UTSW 11 74,743,908 (GRCm39) missense probably damaging 1.00
R4259:Sgsm2 UTSW 11 74,782,854 (GRCm39) missense probably damaging 1.00
R4261:Sgsm2 UTSW 11 74,782,854 (GRCm39) missense probably damaging 1.00
R4408:Sgsm2 UTSW 11 74,742,592 (GRCm39) missense probably damaging 0.99
R4590:Sgsm2 UTSW 11 74,741,958 (GRCm39) missense probably damaging 1.00
R6137:Sgsm2 UTSW 11 74,741,677 (GRCm39) missense probably damaging 1.00
R6162:Sgsm2 UTSW 11 74,782,847 (GRCm39) missense probably damaging 1.00
R6457:Sgsm2 UTSW 11 74,755,995 (GRCm39) missense possibly damaging 0.77
R6722:Sgsm2 UTSW 11 74,756,250 (GRCm39) missense probably damaging 1.00
R6986:Sgsm2 UTSW 11 74,782,867 (GRCm39) missense probably damaging 1.00
R7205:Sgsm2 UTSW 11 74,745,319 (GRCm39) missense possibly damaging 0.88
R7209:Sgsm2 UTSW 11 74,745,151 (GRCm39) missense probably damaging 0.98
R7655:Sgsm2 UTSW 11 74,756,323 (GRCm39) missense probably damaging 1.00
R7656:Sgsm2 UTSW 11 74,756,323 (GRCm39) missense probably damaging 1.00
R8526:Sgsm2 UTSW 11 74,759,847 (GRCm39) missense probably benign 0.17
R9112:Sgsm2 UTSW 11 74,756,222 (GRCm39) nonsense probably null
R9184:Sgsm2 UTSW 11 74,782,834 (GRCm39) missense possibly damaging 0.63
R9226:Sgsm2 UTSW 11 74,748,960 (GRCm39) missense possibly damaging 0.72
R9391:Sgsm2 UTSW 11 74,744,630 (GRCm39) missense probably damaging 1.00
R9458:Sgsm2 UTSW 11 74,759,557 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- TAGCTTGGGGAAAACCTTGCC -3'
(R):5'- AAATCTCACCTGTTGGGCC -3'

Sequencing Primer
(F):5'- AAAACCTTGCCCTGCGGAG -3'
(R):5'- GGTCTCAAGAAGGACCCCAG -3'
Posted On 2018-07-23