Incidental Mutation 'R3822:Rin2'
ID 473969
Institutional Source Beutler Lab
Gene Symbol Rin2
Ensembl Gene ENSMUSG00000001768
Gene Name Ras and Rab interactor 2
Synonyms 2010003K16Rik, RASSF4, 4632403N06Rik
MMRRC Submission 040884-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R3822 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 145613647-145729536 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 145664550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 60 (T60M)
Ref Sequence ENSEMBL: ENSMUSP00000124078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094480] [ENSMUST00000110005] [ENSMUST00000142847] [ENSMUST00000147976] [ENSMUST00000150449]
AlphaFold Q9D684
Predicted Effect probably benign
Transcript: ENSMUST00000094480
SMART Domains Protein: ENSMUSP00000092053
Gene: ENSMUSG00000001768

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
SMART Domains Protein: ENSMUSP00000105632
Gene: ENSMUSG00000001768

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 probably benign
Transcript: ENSMUST00000142847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144278
Predicted Effect probably benign
Transcript: ENSMUST00000147976
AA Change: T60M

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149269
Predicted Effect probably benign
Transcript: ENSMUST00000150449
AA Change: T60M

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (34/34)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T A 11: 101,301,971 (GRCm39) I332F probably damaging Het
Acp3 G T 9: 104,201,916 (GRCm39) Q76K probably damaging Het
Anp32e A T 3: 95,842,181 (GRCm39) I100L probably benign Het
Ccdc13 C A 9: 121,660,085 (GRCm39) L76F probably damaging Het
Cd44 T C 2: 102,731,738 (GRCm39) probably null Het
Chka A G 19: 3,932,038 (GRCm39) probably benign Het
Cnot6 A T 11: 49,579,999 (GRCm39) S98T probably benign Het
Cth A G 3: 157,624,136 (GRCm39) F127S probably benign Het
Dnah9 C A 11: 65,741,829 (GRCm39) probably null Het
Dysf T C 6: 84,184,070 (GRCm39) probably benign Het
Flad1 T A 3: 89,318,494 (GRCm39) I20F probably damaging Het
Gm20730 C T 6: 43,058,656 (GRCm39) S52N probably benign Het
Gpr89 A G 3: 96,800,260 (GRCm39) S113P probably benign Het
Herpud2 G A 9: 25,036,220 (GRCm39) Q147* probably null Het
Hivep1 A T 13: 42,337,787 (GRCm39) H2622L possibly damaging Het
Hlcs T C 16: 94,068,840 (GRCm39) N274D probably benign Het
Ido2 T C 8: 25,023,771 (GRCm39) I356V probably benign Het
Insyn2b T C 11: 34,353,007 (GRCm39) S350P probably benign Het
Itgam A G 7: 127,711,458 (GRCm39) probably null Het
Lama1 C A 17: 68,086,041 (GRCm39) probably null Het
Lrrc4b T A 7: 44,111,982 (GRCm39) V618E probably damaging Het
Man1a2 A G 3: 100,539,913 (GRCm39) I176T possibly damaging Het
Mns1 A G 9: 72,346,730 (GRCm39) E71G probably damaging Het
Ncoa6 T A 2: 155,248,858 (GRCm39) N1482I probably damaging Het
Neto2 C A 8: 86,389,924 (GRCm39) E180* probably null Het
Psmb7 A T 2: 38,503,440 (GRCm39) probably benign Het
Slc28a3 A G 13: 58,706,092 (GRCm39) V639A probably benign Het
Tenm2 A T 11: 35,915,147 (GRCm39) I2129N probably damaging Het
Topaz1 A G 9: 122,626,848 (GRCm39) D1492G possibly damaging Het
Trank1 G A 9: 111,207,887 (GRCm39) G1711R probably damaging Het
Trpm1 A G 7: 63,867,451 (GRCm39) probably benign Het
Ugt1a6a T A 1: 88,066,251 (GRCm39) V19E probably benign Het
Vmn2r60 A T 7: 41,785,125 (GRCm39) E112D probably damaging Het
Wdr4 T G 17: 31,731,195 (GRCm39) Q55P probably damaging Het
Xpnpep1 G A 19: 52,992,250 (GRCm39) probably benign Het
Zfyve16 A T 13: 92,657,769 (GRCm39) L714Q probably damaging 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
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
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
Posted On 2017-04-14