Incidental Mutation 'R5812:Rit2'
ID 447580
Institutional Source Beutler Lab
Gene Symbol Rit2
Ensembl Gene ENSMUSG00000057455
Gene Name Ras-like without CAAX 2
Synonyms Roc2, Rin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R5812 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 31107367-31450181 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31108514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 157 (C157F)
Ref Sequence ENSEMBL: ENSMUSP00000114323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082070] [ENSMUST00000153060]
AlphaFold P70425
Predicted Effect probably benign
Transcript: ENSMUST00000082070
SMART Domains Protein: ENSMUSP00000080724
Gene: ENSMUSG00000057455

DomainStartEndE-ValueType
Pfam:Ras 22 65 3.9e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153060
AA Change: C157F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114323
Gene: ENSMUSG00000057455
AA Change: C157F

DomainStartEndE-ValueType
RAS 18 184 1.77e-111 SMART
low complexity region 203 212 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A G 3: 137,882,299 (GRCm39) S9P probably damaging Het
Aadacl2fm2 T A 3: 59,654,693 (GRCm39) Y176N probably damaging Het
Acsl5 G A 19: 55,283,268 (GRCm39) V615I probably benign Het
Ankk1 T C 9: 49,338,153 (GRCm39) K47E probably benign Het
Ankrd11 A T 8: 123,620,544 (GRCm39) probably null Het
Bcl9l T C 9: 44,417,941 (GRCm39) V593A probably benign Het
Cadps T C 14: 12,376,685 (GRCm38) I1271V probably benign Het
Ccdc125 T C 13: 100,820,812 (GRCm39) W152R probably damaging Het
Cep192 T C 18: 67,984,808 (GRCm39) V1606A possibly damaging Het
Csgalnact1 T C 8: 68,854,036 (GRCm39) N255S probably benign Het
Cxxc5 T A 18: 35,992,109 (GRCm39) V170E probably damaging Het
Defb6 C T 8: 19,278,110 (GRCm39) R61C possibly damaging Het
Dnah10 T A 5: 124,824,810 (GRCm39) N655K probably benign Het
Fry G A 5: 150,323,136 (GRCm39) A1096T probably damaging Het
Gli1 C T 10: 127,173,284 (GRCm39) G125S probably damaging Het
Igkv14-126 A T 6: 67,873,424 (GRCm39) I51F possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jtb T C 3: 90,141,284 (GRCm39) S87P probably benign Het
Kdm6b A T 11: 69,296,755 (GRCm39) I504N probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Map2k4 A G 11: 65,626,031 (GRCm39) I136T probably damaging Het
Marchf4 T C 1: 72,468,076 (GRCm39) T319A probably benign Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Nt5e T C 9: 88,251,108 (GRCm39) V459A probably damaging Het
Ogdhl A G 14: 32,054,822 (GRCm39) K257E probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2g25 A G 17: 37,970,630 (GRCm39) L198P probably damaging Het
Osmr A T 15: 6,866,540 (GRCm39) V378D probably damaging Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pdzd7 G T 19: 45,025,310 (GRCm39) T395K probably damaging Het
Rasgef1c A G 11: 49,847,970 (GRCm39) D35G probably benign Het
Rbm19 T C 5: 120,279,642 (GRCm39) F770L probably damaging Het
Slc22a22 A G 15: 57,119,869 (GRCm39) probably null Het
Slc8b1 T C 5: 120,651,403 (GRCm39) probably null Het
Speer2 C A 16: 69,655,783 (GRCm39) R14S possibly damaging Het
Tas2r105 C A 6: 131,663,836 (GRCm39) L197F possibly damaging Het
Tmprss11b T A 5: 86,812,957 (GRCm39) H113L possibly damaging Het
Ttbk2 G A 2: 120,653,040 (GRCm39) P64S probably damaging Het
Urb1 A T 16: 90,601,425 (GRCm39) H115Q probably damaging Het
Vps13c T A 9: 67,889,777 (GRCm39) probably benign Het
Zbtb39 T A 10: 127,577,429 (GRCm39) M1K probably null Het
Other mutations in Rit2
AlleleSourceChrCoordTypePredicted EffectPPH Score
crackers UTSW 18 31,449,892 (GRCm39) critical splice donor site probably null
R0456:Rit2 UTSW 18 31,108,504 (GRCm39) missense probably benign 0.00
R0764:Rit2 UTSW 18 31,286,754 (GRCm39) splice site probably benign
R1765:Rit2 UTSW 18 31,449,951 (GRCm39) missense probably damaging 0.99
R2142:Rit2 UTSW 18 31,286,766 (GRCm39) missense probably benign 0.00
R4829:Rit2 UTSW 18 31,345,726 (GRCm39) missense probably damaging 1.00
R5137:Rit2 UTSW 18 31,286,817 (GRCm39) missense probably benign
R5350:Rit2 UTSW 18 31,449,905 (GRCm39) missense probably damaging 1.00
R7283:Rit2 UTSW 18 31,449,892 (GRCm39) critical splice donor site probably null
R7290:Rit2 UTSW 18 31,376,221 (GRCm39) missense possibly damaging 0.88
R8219:Rit2 UTSW 18 31,108,547 (GRCm39) missense probably damaging 0.97
R8309:Rit2 UTSW 18 31,286,898 (GRCm39) missense probably damaging 0.97
R9068:Rit2 UTSW 18 31,108,468 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- CTCTTCTTCTTCAGGGAGGC -3'
(R):5'- TGTTGACCACTGCACTACC -3'

Sequencing Primer
(F):5'- AGGGAGGCTTTTATCTTCTTCCACAG -3'
(R):5'- ACTGCACTACCATGAAAATCTTG -3'
Posted On 2016-12-15