Incidental Mutation 'R3940:Rin2'
ID 307400
Institutional Source Beutler Lab
Gene Symbol Rin2
Ensembl Gene ENSMUSG00000001768
Gene Name Ras and Rab interactor 2
Synonyms 2010003K16Rik, RASSF4, 4632403N06Rik
MMRRC Submission 040922-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R3940 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 145613647-145729536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 145702366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 354 (T354I)
Ref Sequence ENSEMBL: ENSMUSP00000105632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094480] [ENSMUST00000110005] [ENSMUST00000147976]
AlphaFold Q9D684
Predicted Effect probably benign
Transcript: ENSMUST00000094480
AA Change: T309I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000092053
Gene: ENSMUSG00000001768
AA Change: T309I

DomainStartEndE-ValueType
SH2 50 136 1.38e-3 SMART
low complexity region 175 187 N/A INTRINSIC
low complexity region 258 269 N/A INTRINSIC
low complexity region 335 352 N/A INTRINSIC
low complexity region 375 385 N/A INTRINSIC
low complexity region 393 411 N/A INTRINSIC
Blast:SH2 540 576 2e-7 BLAST
VPS9 612 730 1.72e-68 SMART
RA 751 842 3.35e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110005
AA Change: T354I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000105632
Gene: ENSMUSG00000001768
AA Change: T354I

DomainStartEndE-ValueType
SH2 95 181 1.38e-3 SMART
low complexity region 220 232 N/A INTRINSIC
low complexity region 303 314 N/A INTRINSIC
low complexity region 380 397 N/A INTRINSIC
low complexity region 420 430 N/A INTRINSIC
low complexity region 438 456 N/A INTRINSIC
Blast:SH2 585 621 2e-7 BLAST
VPS9 657 775 1.72e-68 SMART
RA 796 887 3.35e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145874
Predicted Effect probably benign
Transcript: ENSMUST00000147976
Meta Mutation Damage Score 0.0630 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (35/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Acsm3 A G 7: 119,373,109 (GRCm39) E204G probably benign Het
Acta2 A T 19: 34,220,880 (GRCm39) I276N possibly damaging Het
Ankrd16 T C 2: 11,789,192 (GRCm39) C260R probably benign Het
Ankrd42 T C 7: 92,240,996 (GRCm39) probably null Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Calm5 A T 13: 3,904,485 (GRCm39) I37F possibly damaging Het
Casq1 A G 1: 172,047,103 (GRCm39) V52A possibly damaging Het
Col22a1 A T 15: 71,853,782 (GRCm39) L260* probably null Het
Cttnbp2 C A 6: 18,420,974 (GRCm39) V846L probably benign Het
Dnah12 A G 14: 26,444,754 (GRCm39) T627A probably benign Het
Eogt T C 6: 97,090,875 (GRCm39) I421M probably damaging Het
Fam135a T A 1: 24,096,556 (GRCm39) H63L probably damaging Het
Fmo3 T A 1: 162,791,555 (GRCm39) T241S probably benign Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gm14393 T C 2: 174,903,420 (GRCm39) probably null Het
Kcna5 C T 6: 126,510,614 (GRCm39) V505I probably damaging Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Or7a41 T A 10: 78,871,038 (GRCm39) I136N probably damaging Het
Or8k40 T A 2: 86,584,275 (GRCm39) D269V possibly damaging Het
Pcdhb7 T C 18: 37,477,021 (GRCm39) L719P probably damaging Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pik3ip1 A G 11: 3,281,987 (GRCm39) N48S probably damaging Het
Pkn2 G A 3: 142,499,672 (GRCm39) S951L probably damaging Het
Prrc2a T C 17: 35,376,474 (GRCm39) H772R possibly damaging Het
Ric1 T C 19: 29,548,162 (GRCm39) Y277H probably damaging Het
Rnf123 A T 9: 107,941,234 (GRCm39) probably benign Het
Robo1 T C 16: 72,806,631 (GRCm39) S1166P probably benign Het
S100a10 A G 3: 93,468,383 (GRCm39) E38G probably benign Het
Slc34a1 A T 13: 55,560,983 (GRCm39) I483F probably damaging Het
Stim1 A G 7: 102,084,848 (GRCm39) N600S probably benign Het
Ube3c T A 5: 29,824,358 (GRCm39) N517K probably benign Het
Other mutations in Rin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02928:Rin2 APN 2 145,701,926 (GRCm39) splice site probably benign
IGL03222:Rin2 APN 2 145,702,115 (GRCm39) nonsense probably null
IGL03371:Rin2 APN 2 145,727,846 (GRCm39) utr 3 prime probably benign
IGL03411:Rin2 APN 2 145,702,864 (GRCm39) missense probably damaging 0.99
D4043:Rin2 UTSW 2 145,664,283 (GRCm39) missense possibly damaging 0.61
R0025:Rin2 UTSW 2 145,720,752 (GRCm39) splice site probably benign
R0110:Rin2 UTSW 2 145,702,953 (GRCm39) missense probably benign
R0144:Rin2 UTSW 2 145,718,559 (GRCm39) missense probably damaging 0.96
R0510:Rin2 UTSW 2 145,702,953 (GRCm39) missense probably benign
R1326:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R1327:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R1328:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R1329:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R1330:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R1544:Rin2 UTSW 2 145,700,366 (GRCm39) missense probably damaging 1.00
R1658:Rin2 UTSW 2 145,718,376 (GRCm39) missense probably benign 0.04
R1832:Rin2 UTSW 2 145,703,091 (GRCm39) missense possibly damaging 0.48
R1986:Rin2 UTSW 2 145,720,860 (GRCm39) missense probably damaging 1.00
R2137:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R2167:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R2170:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R2260:Rin2 UTSW 2 145,720,824 (GRCm39) missense probably damaging 0.97
R2312:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R2884:Rin2 UTSW 2 145,702,911 (GRCm39) missense probably benign 0.07
R3155:Rin2 UTSW 2 145,702,771 (GRCm39) missense probably benign 0.17
R3771:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R3772:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R3773:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R3822:Rin2 UTSW 2 145,664,550 (GRCm39) missense probably benign 0.02
R3824:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R3825:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R3885:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R3893:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R3939:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R4012:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R4019:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R4058:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R4214:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R4231:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R4232:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R4236:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R4372:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R4410:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R4415:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R4471:Rin2 UTSW 2 145,702,366 (GRCm39) missense probably benign 0.00
R4490:Rin2 UTSW 2 145,664,194 (GRCm39) missense possibly damaging 0.66
R4597:Rin2 UTSW 2 145,702,825 (GRCm39) missense probably benign 0.01
R5099:Rin2 UTSW 2 145,720,821 (GRCm39) missense probably damaging 1.00
R5268:Rin2 UTSW 2 145,686,680 (GRCm39) missense probably benign
R5493:Rin2 UTSW 2 145,702,629 (GRCm39) missense probably damaging 1.00
R5622:Rin2 UTSW 2 145,702,299 (GRCm39) missense probably benign 0.07
R5947:Rin2 UTSW 2 145,686,863 (GRCm39) intron probably benign
R6280:Rin2 UTSW 2 145,702,939 (GRCm39) missense probably damaging 1.00
R7009:Rin2 UTSW 2 145,725,395 (GRCm39) missense probably damaging 1.00
R7531:Rin2 UTSW 2 145,700,419 (GRCm39) missense probably benign
R7824:Rin2 UTSW 2 145,703,037 (GRCm39) missense probably benign 0.00
R8065:Rin2 UTSW 2 145,702,977 (GRCm39) missense probably damaging 0.99
R8067:Rin2 UTSW 2 145,702,977 (GRCm39) missense probably damaging 0.99
R8144:Rin2 UTSW 2 145,664,225 (GRCm39) missense probably benign
R8510:Rin2 UTSW 2 145,727,611 (GRCm39) missense probably damaging 1.00
R8853:Rin2 UTSW 2 145,718,475 (GRCm39) missense possibly damaging 0.68
R8880:Rin2 UTSW 2 145,690,772 (GRCm39) missense probably damaging 1.00
R9224:Rin2 UTSW 2 145,720,822 (GRCm39) nonsense probably null
R9325:Rin2 UTSW 2 145,727,819 (GRCm39) missense probably benign 0.15
R9417:Rin2 UTSW 2 145,686,713 (GRCm39) missense probably benign 0.02
R9555:Rin2 UTSW 2 145,718,415 (GRCm39) nonsense probably null
R9631:Rin2 UTSW 2 145,718,437 (GRCm39) missense probably damaging 1.00
R9667:Rin2 UTSW 2 145,702,202 (GRCm39) missense possibly damaging 0.89
R9691:Rin2 UTSW 2 145,690,764 (GRCm39) missense probably damaging 0.97
R9727:Rin2 UTSW 2 145,702,506 (GRCm39) missense possibly damaging 0.94
R9780:Rin2 UTSW 2 145,718,551 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGACTCCCAACGCGAATG -3'
(R):5'- GAAAGGCTCATGTCGCTCAG -3'

Sequencing Primer
(F):5'- GAATGGCACCGAGAGACCTC -3'
(R):5'- TGTGATTCAGAGCCGGGC -3'
Posted On 2015-04-17