Incidental Mutation 'R9645:Rab12'
ID 726251
Institutional Source Beutler Lab
Gene Symbol Rab12
Ensembl Gene ENSMUSG00000023460
Gene Name RAB12, member RAS oncogene family
Synonyms 2900054P15Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9645 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 66801507-66826712 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66826421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 97 (S97P)
Ref Sequence ENSEMBL: ENSMUSP00000070134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070538] [ENSMUST00000167962]
AlphaFold P35283
Predicted Effect probably damaging
Transcript: ENSMUST00000070538
AA Change: S97P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000070134
Gene: ENSMUSG00000023460
AA Change: S97P

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
low complexity region 75 86 N/A INTRINSIC
RAB 90 254 2.49e-97 SMART
low complexity region 273 286 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167962
AA Change: S49P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128645
Gene: ENSMUSG00000023460
AA Change: S49P

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
RAB 42 206 2.49e-97 SMART
low complexity region 225 238 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,644,793 (GRCm39) V226A probably benign Het
Acan G T 7: 78,749,653 (GRCm39) V1475F probably benign Het
Acin1 T A 14: 54,901,913 (GRCm39) R626S probably benign Het
Aff3 T C 1: 38,249,121 (GRCm39) K662R probably damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Ano9 T G 7: 140,687,388 (GRCm39) N309T probably benign Het
Ap3d1 G A 10: 80,545,062 (GRCm39) S1092L probably benign Het
B4galt7 C T 13: 55,756,556 (GRCm39) H257Y probably damaging Het
BC051665 G T 13: 60,932,545 (GRCm39) Q47K possibly damaging Het
Brip1 A G 11: 85,952,512 (GRCm39) F1090L probably benign Het
Cabin1 A G 10: 75,494,543 (GRCm39) V1612A probably benign Het
Ccar1 A T 10: 62,602,369 (GRCm39) D434E probably benign Het
Ccdc15 T C 9: 37,227,083 (GRCm39) D297G probably benign Het
Celsr3 C A 9: 108,704,691 (GRCm39) Y391* probably null Het
Cfap52 A G 11: 67,837,179 (GRCm39) I194T possibly damaging Het
Ctif T C 18: 75,757,352 (GRCm39) E67G probably benign Het
Cxcr6 T C 9: 123,639,151 (GRCm39) F58L possibly damaging Het
Cyp2c69 T C 19: 39,869,593 (GRCm39) E142G probably damaging Het
Dnah6 T A 6: 73,115,750 (GRCm39) R1549S possibly damaging Het
Duxf3 A T 10: 58,066,803 (GRCm39) H75Q probably benign Het
Ehbp1 A T 11: 22,051,052 (GRCm39) I500N probably damaging Het
F13a1 A T 13: 37,082,154 (GRCm39) S517T probably benign Het
Fbln7 C T 2: 128,719,316 (GRCm39) R38C probably damaging Het
Fn1 T C 1: 71,667,629 (GRCm39) N788S probably benign Het
Foxc1 A T 13: 31,991,882 (GRCm39) E231V probably damaging Het
Gal3st2b T C 1: 93,866,328 (GRCm39) S10P probably damaging Het
Gm6899 G A 11: 26,543,592 (GRCm39) C53Y unknown Het
Hps3 T C 3: 20,084,831 (GRCm39) E119G probably benign Het
Impg2 A G 16: 56,038,767 (GRCm39) E135G probably damaging Het
Kalrn G A 16: 34,032,583 (GRCm39) T1155M probably benign Het
Kcna6 G A 6: 126,716,022 (GRCm39) A289V probably benign Het
Kcnh5 T C 12: 75,134,191 (GRCm39) M453V probably benign Het
Krt222 A G 11: 99,131,320 (GRCm39) V75A possibly damaging Het
Lmtk3 A T 7: 45,450,431 (GRCm39) T1432S unknown Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Ltbp3 C G 19: 5,802,099 (GRCm39) N758K probably damaging Het
Map6d1 T A 16: 20,055,377 (GRCm39) H153L possibly damaging Het
Mefv A G 16: 3,528,782 (GRCm39) L583P probably damaging Het
Mrps28 T C 3: 8,867,389 (GRCm39) T160A probably damaging Het
Mtcl2 T C 2: 156,869,390 (GRCm39) K1082E probably damaging Het
Muc6 T C 7: 141,217,783 (GRCm39) T2297A possibly damaging Het
Mx1 G T 16: 97,253,409 (GRCm39) D338E probably benign Het
Myom1 G A 17: 71,399,204 (GRCm39) R1120H probably benign Het
Nif3l1 T C 1: 58,487,074 (GRCm39) F87L probably benign Het
Or1e35 T A 11: 73,797,713 (GRCm39) M202L probably benign Het
Or4p22 T C 2: 88,317,373 (GRCm39) V99A possibly damaging Het
Pex10 T A 4: 155,153,264 (GRCm39) L111Q probably damaging Het
Phf1 T C 17: 27,154,130 (GRCm39) probably null Het
Pigp A T 16: 94,166,278 (GRCm39) Y143* probably null Het
Pou2af2 A G 9: 51,229,579 (GRCm39) probably null Het
Prrc2a A G 17: 35,381,176 (GRCm39) probably null Het
Psd GCC GC 19: 46,301,841 (GRCm39) probably null Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rigi T C 4: 40,220,437 (GRCm39) E482G possibly damaging Het
Ros1 A G 10: 51,948,148 (GRCm39) probably null Het
Scp2 A T 4: 107,948,519 (GRCm39) Y197N probably benign Het
Serpinb10 T C 1: 107,474,488 (GRCm39) F217L possibly damaging Het
Shank3 T G 15: 89,409,453 (GRCm39) M604R possibly damaging Het
Slc22a29 A G 19: 8,184,488 (GRCm39) S238P probably benign Het
Smarcc1 A G 9: 109,986,410 (GRCm39) D237G probably damaging Het
Stag3 T C 5: 138,299,701 (GRCm39) S871P possibly damaging Het
Tmem132d A G 5: 128,346,075 (GRCm39) F149S probably damaging Het
Tmem25 C T 9: 44,706,515 (GRCm39) E333K Het
Togaram1 T A 12: 65,066,082 (GRCm39) Y1695* probably null Het
Tox3 G A 8: 90,984,574 (GRCm39) P202S probably damaging Het
Trim34b T A 7: 103,980,474 (GRCm39) N187K probably benign Het
Vcan A G 13: 89,841,081 (GRCm39) S1488P probably benign Het
Vps26a A C 10: 62,305,791 (GRCm39) V124G probably benign Het
Vps50 T G 6: 3,516,706 (GRCm39) S63A possibly damaging Het
Wbp4 T A 14: 79,707,553 (GRCm39) E186V possibly damaging Het
Zfp52 A G 17: 21,781,937 (GRCm39) D595G possibly damaging Het
Zfr2 C A 10: 81,084,252 (GRCm39) S1* probably null Het
Other mutations in Rab12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01533:Rab12 APN 17 66,804,430 (GRCm39) missense probably damaging 0.97
IGL01541:Rab12 APN 17 66,804,404 (GRCm39) missense probably damaging 1.00
IGL01702:Rab12 APN 17 66,826,384 (GRCm39) missense probably damaging 1.00
IGL02373:Rab12 APN 17 66,805,060 (GRCm39) missense probably damaging 1.00
IGL02656:Rab12 APN 17 66,813,049 (GRCm39) missense probably damaging 1.00
IGL02826:Rab12 APN 17 66,805,111 (GRCm39) splice site probably benign
R0165:Rab12 UTSW 17 66,807,312 (GRCm39) missense probably damaging 1.00
R0193:Rab12 UTSW 17 66,807,357 (GRCm39) missense probably damaging 1.00
R1716:Rab12 UTSW 17 66,807,315 (GRCm39) missense possibly damaging 0.89
R4039:Rab12 UTSW 17 66,807,396 (GRCm39) missense possibly damaging 0.70
R4863:Rab12 UTSW 17 66,805,103 (GRCm39) missense probably damaging 1.00
R5568:Rab12 UTSW 17 66,804,418 (GRCm39) missense probably damaging 1.00
R9686:Rab12 UTSW 17 66,826,513 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- ATGATTCGTTGAGGCCCTGG -3'
(R):5'- AACCACGAGTGAAAGTGCGC -3'

Sequencing Primer
(F):5'- CTGGGAGAGGGTCAGAGCTTC -3'
(R):5'- GGAGAAGCTGCTTCCCTTC -3'
Posted On 2022-09-12