Incidental Mutation 'R6547:Rap1gds1'
ID 521252
Institutional Source Beutler Lab
Gene Symbol Rap1gds1
Ensembl Gene ENSMUSG00000028149
Gene Name RAP1, GTP-GDP dissociation stimulator 1
Synonyms GDS1
MMRRC Submission 044672-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.657) question?
Stock # R6547 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 138631663-138780962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 138661099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 426 (R426L)
Ref Sequence ENSEMBL: ENSMUSP00000029796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029796] [ENSMUST00000098574] [ENSMUST00000196106] [ENSMUST00000196280] [ENSMUST00000200396]
AlphaFold E9Q912
Predicted Effect probably damaging
Transcript: ENSMUST00000029796
AA Change: R426L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029796
Gene: ENSMUSG00000028149
AA Change: R426L

DomainStartEndE-ValueType
ARM 77 118 1.36e-6 SMART
ARM 119 162 7.98e-4 SMART
ARM 297 341 2.4e-7 SMART
ARM 342 382 6.3e1 SMART
ARM 430 470 6.39e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098574
AA Change: R475L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096173
Gene: ENSMUSG00000028149
AA Change: R475L

DomainStartEndE-ValueType
ARM 77 118 1.36e-6 SMART
ARM 169 211 1.74e-4 SMART
ARM 346 390 2.4e-7 SMART
ARM 391 431 6.3e1 SMART
ARM 479 519 6.39e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196106
Predicted Effect possibly damaging
Transcript: ENSMUST00000196280
AA Change: R474L

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143181
Gene: ENSMUSG00000028149
AA Change: R474L

DomainStartEndE-ValueType
ARM 77 118 1.36e-6 SMART
ARM 169 211 1.74e-4 SMART
ARM 346 390 2.4e-7 SMART
ARM 391 431 6.3e1 SMART
ARM 478 518 6.39e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200262
Predicted Effect probably damaging
Transcript: ENSMUST00000200396
AA Change: R426L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143517
Gene: ENSMUSG00000028149
AA Change: R426L

DomainStartEndE-ValueType
ARM 77 118 6.7e-9 SMART
ARM 119 162 3.9e-6 SMART
ARM 297 341 1.2e-9 SMART
ARM 342 382 3.1e-1 SMART
ARM 430 470 3.1e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 98% (53/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,490,251 (GRCm39) probably benign Het
Abca13 T A 11: 9,224,757 (GRCm39) V490E probably benign Het
Abca2 G T 2: 25,323,350 (GRCm39) G106V possibly damaging Het
Ablim3 T C 18: 61,957,000 (GRCm39) T276A probably benign Het
Anxa7 A G 14: 20,519,461 (GRCm39) V119A probably benign Het
Arl9 A G 5: 77,158,257 (GRCm39) probably null Het
Atm T C 9: 53,351,457 (GRCm39) Y2964C probably damaging Het
Bbs9 T C 9: 22,425,365 (GRCm39) Y140H probably benign Het
Calcr A T 6: 3,717,177 (GRCm39) D94E probably damaging Het
Celsr3 T A 9: 108,706,327 (GRCm39) Y937N probably damaging Het
Cemip2 A T 19: 21,822,195 (GRCm39) T1197S probably benign Het
Clca3a1 C T 3: 144,442,708 (GRCm39) A779T probably damaging Het
Clec9a T A 6: 129,393,339 (GRCm39) V94D probably benign Het
Colec12 G T 18: 9,840,351 (GRCm39) L57F probably damaging Het
Fa2h T C 8: 112,074,652 (GRCm39) Y317C probably damaging Het
Flnc A G 6: 29,448,607 (GRCm39) T1282A probably damaging Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Hcn2 G T 10: 79,552,986 (GRCm39) V162L probably benign Het
Hycc1 T C 5: 24,170,098 (GRCm39) N417S probably benign Het
Kbtbd11 T A 8: 15,077,641 (GRCm39) V80E possibly damaging Het
Lama4 A G 10: 38,949,652 (GRCm39) D915G probably damaging Het
Limch1 A T 5: 67,186,117 (GRCm39) E806V probably damaging Het
Mppe1 T C 18: 67,362,059 (GRCm39) I169V probably benign Het
Msc A C 1: 14,825,969 (GRCm39) S2A possibly damaging Het
Nploc4 A G 11: 120,319,348 (GRCm39) probably null Het
Nr3c2 A T 8: 77,635,438 (GRCm39) I180F possibly damaging Het
Nrap G T 19: 56,339,998 (GRCm39) H840N probably benign Het
Or8a1 T A 9: 37,641,791 (GRCm39) M163L probably benign Het
Pate13 T A 9: 35,819,781 (GRCm39) M15K probably null Het
Pdlim1 G A 19: 40,211,564 (GRCm39) T243I probably damaging Het
Pfkl T A 10: 77,831,188 (GRCm39) M318L probably benign Het
Ric1 A G 19: 29,572,226 (GRCm39) N674D probably damaging Het
Rp1 G A 1: 4,240,528 (GRCm39) T875I unknown Het
Rtn1 G T 12: 72,355,535 (GRCm39) S137Y possibly damaging Het
Scn2a A G 2: 65,546,241 (GRCm39) I935V probably benign Het
Serpina1a C T 12: 103,822,180 (GRCm39) V251M probably damaging Het
Slc19a3 A G 1: 83,000,621 (GRCm39) V132A probably damaging Het
Slc26a6 T A 9: 108,737,981 (GRCm39) probably null Het
Slc2a5 T A 4: 150,220,076 (GRCm39) V164D possibly damaging Het
Slc4a1 T A 11: 102,247,561 (GRCm39) T441S probably damaging Het
Stk33 T C 7: 108,920,042 (GRCm39) I366V possibly damaging Het
Syt14 G T 1: 192,584,177 (GRCm39) H696N possibly damaging Het
Tcaim T A 9: 122,643,531 (GRCm39) V77D probably benign Het
Tefm T G 11: 80,031,210 (GRCm39) probably null Het
Tekt3 T A 11: 62,961,304 (GRCm39) S158T possibly damaging Het
Tspan11 T A 6: 127,926,766 (GRCm39) M238K possibly damaging Het
Unc5c A T 3: 141,495,780 (GRCm39) T476S probably benign Het
Usp9y A T Y: 1,444,612 (GRCm39) L109Q probably damaging Homo
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vps13c C A 9: 67,880,647 (GRCm39) Q3495K probably damaging Het
Zbtb10 G A 3: 9,316,763 (GRCm39) A192T probably benign Het
Zfp316 A T 5: 143,239,952 (GRCm39) V689D probably damaging Het
Zswim1 A G 2: 164,666,716 (GRCm39) probably benign Het
Zswim5 T C 4: 116,844,100 (GRCm39) L1046P probably damaging Het
Other mutations in Rap1gds1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Rap1gds1 APN 3 138,689,588 (GRCm39) missense possibly damaging 0.95
IGL01314:Rap1gds1 APN 3 138,756,322 (GRCm39) missense probably damaging 1.00
IGL01450:Rap1gds1 APN 3 138,671,681 (GRCm39) missense probably damaging 1.00
IGL02033:Rap1gds1 APN 3 138,661,232 (GRCm39) splice site probably benign
IGL02658:Rap1gds1 APN 3 138,663,240 (GRCm39) missense probably damaging 1.00
IGL02745:Rap1gds1 APN 3 138,662,002 (GRCm39) missense probably damaging 1.00
IGL02880:Rap1gds1 APN 3 138,651,517 (GRCm39) missense probably benign 0.16
PIT4305001:Rap1gds1 UTSW 3 138,662,061 (GRCm39) missense probably benign 0.05
R0006:Rap1gds1 UTSW 3 138,689,632 (GRCm39) splice site probably null
R0006:Rap1gds1 UTSW 3 138,689,632 (GRCm39) splice site probably null
R0585:Rap1gds1 UTSW 3 138,727,633 (GRCm39) missense probably benign 0.16
R1573:Rap1gds1 UTSW 3 138,671,624 (GRCm39) splice site probably null
R1793:Rap1gds1 UTSW 3 138,756,314 (GRCm39) missense possibly damaging 0.94
R1960:Rap1gds1 UTSW 3 138,756,317 (GRCm39) missense probably null 0.28
R2432:Rap1gds1 UTSW 3 138,662,011 (GRCm39) missense probably damaging 0.99
R2697:Rap1gds1 UTSW 3 138,689,482 (GRCm39) critical splice donor site probably null
R3792:Rap1gds1 UTSW 3 138,671,721 (GRCm39) missense probably damaging 1.00
R4031:Rap1gds1 UTSW 3 138,756,353 (GRCm39) splice site probably benign
R4194:Rap1gds1 UTSW 3 138,664,851 (GRCm39) missense probably damaging 1.00
R4530:Rap1gds1 UTSW 3 138,663,186 (GRCm39) missense probably damaging 1.00
R4696:Rap1gds1 UTSW 3 138,633,375 (GRCm39) missense probably damaging 1.00
R4909:Rap1gds1 UTSW 3 138,689,509 (GRCm39) missense possibly damaging 0.77
R5000:Rap1gds1 UTSW 3 138,662,011 (GRCm39) missense probably damaging 1.00
R5046:Rap1gds1 UTSW 3 138,661,181 (GRCm39) nonsense probably null
R5152:Rap1gds1 UTSW 3 138,661,962 (GRCm39) missense probably damaging 1.00
R5163:Rap1gds1 UTSW 3 138,664,817 (GRCm39) missense probably damaging 0.99
R5309:Rap1gds1 UTSW 3 138,664,389 (GRCm39) missense probably damaging 1.00
R5312:Rap1gds1 UTSW 3 138,664,389 (GRCm39) missense probably damaging 1.00
R5782:Rap1gds1 UTSW 3 138,664,840 (GRCm39) missense possibly damaging 0.65
R5825:Rap1gds1 UTSW 3 138,661,136 (GRCm39) missense possibly damaging 0.93
R7227:Rap1gds1 UTSW 3 138,663,228 (GRCm39) missense probably damaging 1.00
R7228:Rap1gds1 UTSW 3 138,663,228 (GRCm39) missense probably damaging 1.00
R7574:Rap1gds1 UTSW 3 138,661,976 (GRCm39) nonsense probably null
R7711:Rap1gds1 UTSW 3 138,664,874 (GRCm39) missense probably benign 0.08
R8035:Rap1gds1 UTSW 3 138,721,311 (GRCm39) missense probably damaging 1.00
R8432:Rap1gds1 UTSW 3 138,647,548 (GRCm39) missense probably damaging 0.99
R8736:Rap1gds1 UTSW 3 138,647,512 (GRCm39) missense probably benign 0.00
R8768:Rap1gds1 UTSW 3 138,647,521 (GRCm39) missense probably benign 0.00
R8901:Rap1gds1 UTSW 3 138,663,305 (GRCm39) missense probably damaging 1.00
R9008:Rap1gds1 UTSW 3 138,661,177 (GRCm39) missense probably benign 0.05
R9526:Rap1gds1 UTSW 3 138,756,317 (GRCm39) missense probably benign 0.00
RF053:Rap1gds1 UTSW 3 138,647,418 (GRCm39) frame shift probably null
Z1177:Rap1gds1 UTSW 3 138,756,300 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGCCAGCTCCTACCATCAAAG -3'
(R):5'- TGCCTGTCAGTGATTTGCTC -3'

Sequencing Primer
(F):5'- CCATCAAAGCCTTACCTTTAAGTATG -3'
(R):5'- CAGTGATTTGCTCTGTTTTTGC -3'
Posted On 2018-06-06