Incidental Mutation 'R3825:Rin2'
ID 275319
Institutional Source Beutler Lab
Gene Symbol Rin2
Ensembl Gene ENSMUSG00000001768
Gene Name Ras and Rab interactor 2
Synonyms 2010003K16Rik, RASSF4, 4632403N06Rik
MMRRC Submission 040774-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R3825 (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: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (63/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A G 11: 117,693,739 (GRCm39) K69E probably damaging Het
Abcb5 C T 12: 118,865,087 (GRCm39) probably null Het
Acot1 G T 12: 84,061,194 (GRCm39) G167* probably null Het
Agbl1 C T 7: 76,069,715 (GRCm39) H164Y probably damaging Het
Atp4b T C 8: 13,443,549 (GRCm39) Y43C probably damaging Het
Bsn T C 9: 107,984,055 (GRCm39) D3333G unknown Het
Ccdc27 A C 4: 154,120,742 (GRCm39) D351E unknown Het
Cd200r4 T C 16: 44,641,313 (GRCm39) F19L probably benign Het
Dbndd1 T A 8: 124,236,731 (GRCm39) I75F probably damaging Het
Dennd5b T C 6: 148,946,334 (GRCm39) K426E probably benign Het
Drg2 A G 11: 60,350,334 (GRCm39) T98A possibly damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fmo1 T C 1: 162,678,916 (GRCm39) probably benign Het
Foxn2 A T 17: 88,791,837 (GRCm39) I236F probably damaging Het
Glmp G A 3: 88,233,718 (GRCm39) V107I probably damaging Het
Gpr15 A G 16: 58,538,723 (GRCm39) F122S probably damaging Het
Gvin-ps3 T C 7: 105,682,780 (GRCm39) I158M possibly damaging Het
Hmcn1 A T 1: 150,462,716 (GRCm39) D5140E probably benign Het
Hspa1a C T 17: 35,190,703 (GRCm39) V67M probably damaging Het
Igfbp4 A G 11: 98,939,061 (GRCm39) E27G probably damaging Het
Il7 A G 3: 7,642,226 (GRCm39) probably benign Het
Kat6a G T 8: 23,352,380 (GRCm39) V55F probably damaging Het
Kynu A G 2: 43,571,451 (GRCm39) T456A probably benign Het
Lcorl A G 5: 45,932,729 (GRCm39) probably benign Het
Lrp5 G A 19: 3,655,290 (GRCm39) R1077* probably null Het
Mab21l2 T C 3: 86,454,211 (GRCm39) E263G possibly damaging Het
Macf1 T A 4: 123,338,744 (GRCm39) D1436V probably benign Het
Map4k2 C A 19: 6,394,081 (GRCm39) T252N probably benign Het
Mterf2 A T 10: 84,956,147 (GRCm39) L159Q probably damaging Het
Muc5ac C A 7: 141,368,460 (GRCm39) T3063K possibly damaging Het
Myo18a T A 11: 77,668,292 (GRCm39) S51T possibly damaging Het
Ncoa3 G T 2: 165,896,718 (GRCm39) G503V possibly damaging Het
Ncor1 A T 11: 62,264,183 (GRCm39) H406Q probably benign Het
Nectin2 T C 7: 19,458,510 (GRCm39) K434E possibly damaging Het
Nipal2 A T 15: 34,578,852 (GRCm39) probably null Het
Nub1 G C 5: 24,912,851 (GRCm39) S517T probably benign Het
Or10a4 T C 7: 106,696,816 (GRCm39) L48P possibly damaging Het
Or4d10c A G 19: 12,065,391 (GRCm39) V255A probably damaging Het
Or8b101 A T 9: 38,020,134 (GRCm39) I51F possibly damaging Het
Or8c17 T G 9: 38,179,814 (GRCm39) S2A probably benign Het
Plscr3 G A 11: 69,740,964 (GRCm39) V267M probably benign Het
Plxnb2 G T 15: 89,050,602 (GRCm39) N451K probably benign Het
Ppp2r2a A G 14: 67,259,892 (GRCm39) L268P probably damaging Het
Ptprb A T 10: 116,186,694 (GRCm39) I1743F probably benign Het
Rack1 A G 11: 48,693,131 (GRCm39) T105A probably benign Het
Rhot1 G A 11: 80,116,907 (GRCm39) V94I probably damaging Het
Smc6 T A 12: 11,351,517 (GRCm39) probably benign Het
Spink8 T A 9: 109,645,861 (GRCm39) V11D probably damaging Het
Ss18l1 A T 2: 179,705,103 (GRCm39) Q365L unknown Het
Tbc1d31 T A 15: 57,779,474 (GRCm39) H62Q probably benign Het
Tbc1d9b T C 11: 50,061,954 (GRCm39) V1171A possibly damaging Het
Tln1 G A 4: 43,536,413 (GRCm39) probably benign Het
Tmem220 G A 11: 66,916,077 (GRCm39) A25T possibly damaging Het
Tmem259 T C 10: 79,814,282 (GRCm39) N334S possibly damaging Het
Tmod3 A T 9: 75,414,809 (GRCm39) probably benign Het
Tmprss2 A T 16: 97,398,021 (GRCm39) Y52N probably damaging Het
Tsga10 A T 1: 37,873,278 (GRCm39) N200K possibly damaging Het
Ube2frt T C 12: 36,141,036 (GRCm39) probably benign Het
Vmn1r189 T A 13: 22,286,382 (GRCm39) T152S probably benign Het
Vmn2r76 C T 7: 85,880,415 (GRCm39) M90I probably benign Het
Zfr C T 15: 12,166,277 (GRCm39) A849V probably damaging Het
Znhit6 T C 3: 145,284,099 (GRCm39) M95T 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
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
R3940: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'- TTGAAAGTGCACAGCCAGGAC -3'
(R):5'- AAAGGCTCATGTCGCTCAGC -3'

Sequencing Primer
(F):5'- AGGACTCCCAACGCGAATGG -3'
(R):5'- TGTGATTCAGAGCCGGGC -3'
Posted On 2015-04-02