Incidental Mutation 'R1731:Rusc2'
ID 199294
Institutional Source Beutler Lab
Gene Symbol Rusc2
Ensembl Gene ENSMUSG00000035969
Gene Name RUN and SH3 domain containing 2
Synonyms
MMRRC Submission 039763-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R1731 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 43381979-43427088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43426046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 1384 (A1384S)
Ref Sequence ENSEMBL: ENSMUSP00000118528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000052829] [ENSMUST00000098106] [ENSMUST00000107928] [ENSMUST00000107929] [ENSMUST00000131668] [ENSMUST00000173682] [ENSMUST00000149676] [ENSMUST00000171134] [ENSMUST00000149221]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035645
AA Change: A1384S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: A1384S

DomainStartEndE-ValueType
low complexity region 39 47 N/A INTRINSIC
low complexity region 212 230 N/A INTRINSIC
low complexity region 253 265 N/A INTRINSIC
low complexity region 411 427 N/A INTRINSIC
low complexity region 435 448 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
low complexity region 600 617 N/A INTRINSIC
low complexity region 795 809 N/A INTRINSIC
RUN 1109 1177 3.66e-21 SMART
low complexity region 1235 1260 N/A INTRINSIC
low complexity region 1289 1324 N/A INTRINSIC
low complexity region 1330 1341 N/A INTRINSIC
SH3 1457 1512 7.4e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052829
SMART Domains Protein: ENSMUSP00000058980
Gene: ENSMUSG00000042788

DomainStartEndE-ValueType
Pfam:DUF2475 15 47 2.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098106
AA Change: A1384S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: A1384S

DomainStartEndE-ValueType
low complexity region 39 47 N/A INTRINSIC
low complexity region 212 230 N/A INTRINSIC
low complexity region 253 265 N/A INTRINSIC
low complexity region 411 427 N/A INTRINSIC
low complexity region 435 448 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
low complexity region 600 617 N/A INTRINSIC
low complexity region 795 809 N/A INTRINSIC
RUN 1109 1177 3.66e-21 SMART
low complexity region 1235 1260 N/A INTRINSIC
low complexity region 1289 1324 N/A INTRINSIC
low complexity region 1330 1341 N/A INTRINSIC
SH3 1457 1512 7.4e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107928
SMART Domains Protein: ENSMUSP00000103561
Gene: ENSMUSG00000042788

DomainStartEndE-ValueType
Pfam:DUF2475 15 76 1.3e-20 PFAM
Pfam:DUF2475 212 251 6.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107929
SMART Domains Protein: ENSMUSP00000103562
Gene: ENSMUSG00000042788

DomainStartEndE-ValueType
Pfam:DUF2475 15 76 1.5e-20 PFAM
Pfam:DUF2475 232 271 7.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125393
Predicted Effect probably benign
Transcript: ENSMUST00000131668
AA Change: A1384S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: A1384S

DomainStartEndE-ValueType
low complexity region 39 47 N/A INTRINSIC
low complexity region 212 230 N/A INTRINSIC
low complexity region 253 265 N/A INTRINSIC
low complexity region 411 427 N/A INTRINSIC
low complexity region 435 448 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
low complexity region 600 617 N/A INTRINSIC
low complexity region 795 809 N/A INTRINSIC
RUN 1109 1177 3.66e-21 SMART
low complexity region 1235 1260 N/A INTRINSIC
low complexity region 1289 1324 N/A INTRINSIC
low complexity region 1330 1341 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149556
Predicted Effect probably benign
Transcript: ENSMUST00000173682
SMART Domains Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969

DomainStartEndE-ValueType
low complexity region 39 47 N/A INTRINSIC
low complexity region 212 230 N/A INTRINSIC
low complexity region 253 265 N/A INTRINSIC
low complexity region 411 427 N/A INTRINSIC
low complexity region 435 448 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
low complexity region 685 703 N/A INTRINSIC
low complexity region 733 740 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149676
Predicted Effect probably benign
Transcript: ENSMUST00000171134
SMART Domains Protein: ENSMUSP00000127145
Gene: ENSMUSG00000042788

DomainStartEndE-ValueType
Pfam:DUF2475 15 76 7.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149221
Predicted Effect probably benign
Transcript: ENSMUST00000155080
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,762,805 (GRCm39) Y140F probably damaging Het
Adgrl4 T G 3: 151,246,623 (GRCm39) I641S possibly damaging Het
Aqp9 A G 9: 71,030,250 (GRCm39) I205T possibly damaging Het
Arap3 C T 18: 38,122,965 (GRCm39) V512I probably benign Het
Atf2 C T 2: 73,675,853 (GRCm39) G123E probably damaging Het
Baz1a T C 12: 54,965,330 (GRCm39) D708G possibly damaging Het
Calcrl A G 2: 84,175,512 (GRCm39) probably null Het
Capzb T A 4: 139,007,341 (GRCm39) W110R probably damaging Het
Casp8ap2 A T 4: 32,641,442 (GRCm39) N832I possibly damaging Het
Cecr2 T A 6: 120,735,141 (GRCm39) H764Q possibly damaging Het
Cep131 T C 11: 119,967,742 (GRCm39) probably null Het
Ces2e T C 8: 105,656,208 (GRCm39) V173A probably damaging Het
Clstn3 T C 6: 124,408,591 (GRCm39) D944G probably benign Het
Cyb5rl C A 4: 106,938,110 (GRCm39) A189E probably damaging Het
Cyp2c40 A G 19: 39,801,133 (GRCm39) S41P probably damaging Het
Dscam A G 16: 96,621,076 (GRCm39) L544P probably damaging Het
Epha2 A G 4: 141,049,063 (GRCm39) K640E possibly damaging Het
Erap1 T A 13: 74,814,241 (GRCm39) C8* probably null Het
Fat3 A G 9: 15,907,233 (GRCm39) V2923A probably benign Het
Fat4 A T 3: 38,945,459 (GRCm39) I1451F probably damaging Het
Fcsk A T 8: 111,621,455 (GRCm39) I163N probably damaging Het
Fzd6 G A 15: 38,894,722 (GRCm39) G296D probably damaging Het
Gm3486 T A 14: 41,206,492 (GRCm39) M194L probably benign Het
Gm5592 C T 7: 40,937,837 (GRCm39) A373V probably damaging Het
Hectd3 T A 4: 116,853,652 (GRCm39) probably null Het
Hira T A 16: 18,751,764 (GRCm39) V521E probably benign Het
Hsd17b6 A G 10: 127,830,348 (GRCm39) L141S possibly damaging Het
Idua A G 5: 108,829,538 (GRCm39) D467G probably benign Het
Ikzf4 G A 10: 128,470,401 (GRCm39) P373L probably benign Het
Kcng1 T C 2: 168,110,609 (GRCm39) E185G probably benign Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lpcat4 T C 2: 112,074,188 (GRCm39) L250P probably damaging Het
Lrrc49 A G 9: 60,528,914 (GRCm39) Y281H probably damaging Het
Mta2 C A 19: 8,925,088 (GRCm39) probably null Het
Myo15b T C 11: 115,782,386 (GRCm39) I372T possibly damaging Het
Myocd T A 11: 65,091,714 (GRCm39) N76I probably benign Het
Nav2 T A 7: 49,197,922 (GRCm39) Y1123N probably damaging Het
Otogl A T 10: 107,652,972 (GRCm39) C1127S probably damaging Het
Pcdhb8 A G 18: 37,488,891 (GRCm39) K190E probably damaging Het
Pcnx1 A G 12: 82,037,478 (GRCm39) H1918R probably damaging Het
Pde2a T A 7: 101,150,867 (GRCm39) Y272N probably damaging Het
Phldb3 T C 7: 24,318,660 (GRCm39) V313A probably benign Het
Plch2 C T 4: 155,091,451 (GRCm39) V116I possibly damaging Het
Plod2 G A 9: 92,466,657 (GRCm39) probably null Het
Ppfibp2 T C 7: 107,339,796 (GRCm39) Y730H probably damaging Het
Ptprh T C 7: 4,604,912 (GRCm39) E44G probably benign Het
Rab11fip1 T C 8: 27,642,438 (GRCm39) E787G probably damaging Het
Rabep2 T A 7: 126,043,444 (GRCm39) L448Q probably damaging Het
Rbfox3 A G 11: 118,387,762 (GRCm39) probably null Het
Rgma T C 7: 73,059,160 (GRCm39) V88A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf125 A G 18: 21,110,873 (GRCm39) T44A probably benign Het
Selp T A 1: 163,969,009 (GRCm39) C536* probably null Het
Serpinb3c G A 1: 107,199,504 (GRCm39) T339I probably damaging Het
Slc4a5 C T 6: 83,273,617 (GRCm39) R986C probably damaging Het
Slc8b1 T C 5: 120,659,180 (GRCm39) I208T probably benign Het
Sp3 G A 2: 72,776,999 (GRCm39) H533Y probably damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tiam2 A G 17: 3,568,698 (GRCm39) R1615G probably damaging Het
Tie1 T C 4: 118,333,460 (GRCm39) E802G probably damaging Het
Tinagl1 A G 4: 130,061,842 (GRCm39) V164A probably benign Het
Vmn1r68 A G 7: 10,261,802 (GRCm39) Y99H probably damaging Het
Vmn1r87 T A 7: 12,865,703 (GRCm39) T195S possibly damaging Het
Vmn2r56 T C 7: 12,466,972 (GRCm39) T21A probably benign Het
Zfp108 C A 7: 23,957,964 (GRCm39) H34Q possibly damaging Het
Zfp267 T A 3: 36,218,620 (GRCm39) F214L probably benign Het
Zfp456 C T 13: 67,514,674 (GRCm39) S344N probably benign Het
Zscan22 T C 7: 12,640,907 (GRCm39) C384R probably damaging Het
Other mutations in Rusc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Rusc2 APN 4 43,426,116 (GRCm39) missense probably damaging 0.97
IGL01474:Rusc2 APN 4 43,416,434 (GRCm39) missense probably damaging 0.98
IGL01541:Rusc2 APN 4 43,415,840 (GRCm39) missense probably benign 0.08
IGL01628:Rusc2 APN 4 43,425,729 (GRCm39) missense probably damaging 1.00
IGL01969:Rusc2 APN 4 43,415,738 (GRCm39) missense probably benign 0.02
IGL02030:Rusc2 APN 4 43,416,095 (GRCm39) missense possibly damaging 0.86
IGL02079:Rusc2 APN 4 43,425,668 (GRCm39) missense probably benign
IGL02115:Rusc2 APN 4 43,426,136 (GRCm39) splice site probably benign
IGL02122:Rusc2 APN 4 43,421,685 (GRCm39) missense possibly damaging 0.67
IGL02350:Rusc2 APN 4 43,425,351 (GRCm39) missense possibly damaging 0.86
IGL02357:Rusc2 APN 4 43,425,351 (GRCm39) missense possibly damaging 0.86
IGL02437:Rusc2 APN 4 43,415,545 (GRCm39) missense probably damaging 1.00
IGL02930:Rusc2 APN 4 43,416,376 (GRCm39) missense probably damaging 0.99
IGL03154:Rusc2 APN 4 43,425,806 (GRCm39) missense probably benign 0.00
P0026:Rusc2 UTSW 4 43,415,840 (GRCm39) missense possibly damaging 0.93
R0036:Rusc2 UTSW 4 43,424,009 (GRCm39) missense probably damaging 1.00
R0068:Rusc2 UTSW 4 43,424,100 (GRCm39) splice site probably benign
R0068:Rusc2 UTSW 4 43,424,100 (GRCm39) splice site probably benign
R0114:Rusc2 UTSW 4 43,422,055 (GRCm39) missense probably damaging 1.00
R0255:Rusc2 UTSW 4 43,423,954 (GRCm39) missense probably damaging 1.00
R0471:Rusc2 UTSW 4 43,425,486 (GRCm39) missense probably damaging 0.99
R1381:Rusc2 UTSW 4 43,416,137 (GRCm39) missense probably damaging 1.00
R1413:Rusc2 UTSW 4 43,416,568 (GRCm39) missense probably benign 0.00
R1416:Rusc2 UTSW 4 43,421,617 (GRCm39) missense possibly damaging 0.86
R1864:Rusc2 UTSW 4 43,421,719 (GRCm39) missense possibly damaging 0.49
R1897:Rusc2 UTSW 4 43,421,749 (GRCm39) missense probably damaging 1.00
R2010:Rusc2 UTSW 4 43,415,212 (GRCm39) missense probably benign 0.06
R2212:Rusc2 UTSW 4 43,415,935 (GRCm39) missense probably damaging 1.00
R2275:Rusc2 UTSW 4 43,416,260 (GRCm39) missense probably damaging 1.00
R2885:Rusc2 UTSW 4 43,415,456 (GRCm39) missense probably benign 0.28
R2886:Rusc2 UTSW 4 43,415,456 (GRCm39) missense probably benign 0.28
R3412:Rusc2 UTSW 4 43,415,935 (GRCm39) missense probably damaging 1.00
R3413:Rusc2 UTSW 4 43,415,935 (GRCm39) missense probably damaging 1.00
R3414:Rusc2 UTSW 4 43,415,935 (GRCm39) missense probably damaging 1.00
R3852:Rusc2 UTSW 4 43,416,424 (GRCm39) missense probably benign 0.45
R4135:Rusc2 UTSW 4 43,425,563 (GRCm39) missense possibly damaging 0.49
R4272:Rusc2 UTSW 4 43,415,533 (GRCm39) missense probably damaging 1.00
R4574:Rusc2 UTSW 4 43,416,080 (GRCm39) missense probably damaging 0.99
R4888:Rusc2 UTSW 4 43,423,942 (GRCm39) missense probably damaging 1.00
R5010:Rusc2 UTSW 4 43,415,926 (GRCm39) missense probably damaging 1.00
R5071:Rusc2 UTSW 4 43,415,240 (GRCm39) missense probably benign 0.05
R5131:Rusc2 UTSW 4 43,414,948 (GRCm39) missense probably benign 0.03
R5177:Rusc2 UTSW 4 43,421,805 (GRCm39) splice site probably null
R5540:Rusc2 UTSW 4 43,423,975 (GRCm39) missense probably damaging 1.00
R5561:Rusc2 UTSW 4 43,415,932 (GRCm39) nonsense probably null
R5628:Rusc2 UTSW 4 43,425,348 (GRCm39) missense probably damaging 1.00
R5645:Rusc2 UTSW 4 43,425,758 (GRCm39) missense probably benign 0.06
R6129:Rusc2 UTSW 4 43,424,271 (GRCm39) missense probably damaging 1.00
R6362:Rusc2 UTSW 4 43,416,416 (GRCm39) missense probably benign 0.30
R6633:Rusc2 UTSW 4 43,414,852 (GRCm39) missense probably damaging 0.99
R6980:Rusc2 UTSW 4 43,422,846 (GRCm39) missense probably benign 0.35
R7491:Rusc2 UTSW 4 43,426,528 (GRCm39) missense probably damaging 1.00
R7641:Rusc2 UTSW 4 43,425,335 (GRCm39) missense possibly damaging 0.84
R7698:Rusc2 UTSW 4 43,414,900 (GRCm39) nonsense probably null
R7710:Rusc2 UTSW 4 43,416,119 (GRCm39) missense probably benign 0.07
R8052:Rusc2 UTSW 4 43,421,851 (GRCm39) missense probably benign
R8061:Rusc2 UTSW 4 43,422,492 (GRCm39) missense probably damaging 1.00
R8127:Rusc2 UTSW 4 43,423,747 (GRCm39) missense possibly damaging 0.54
R8319:Rusc2 UTSW 4 43,425,378 (GRCm39) missense probably damaging 1.00
R8355:Rusc2 UTSW 4 43,422,846 (GRCm39) missense probably benign 0.35
R8397:Rusc2 UTSW 4 43,424,206 (GRCm39) missense possibly damaging 0.95
R8455:Rusc2 UTSW 4 43,422,846 (GRCm39) missense probably benign 0.35
R8553:Rusc2 UTSW 4 43,416,508 (GRCm39) missense probably benign 0.05
R8725:Rusc2 UTSW 4 43,401,351 (GRCm39) intron probably benign
R8725:Rusc2 UTSW 4 43,415,396 (GRCm39) missense probably damaging 0.99
R8727:Rusc2 UTSW 4 43,401,351 (GRCm39) intron probably benign
R8834:Rusc2 UTSW 4 43,416,431 (GRCm39) missense possibly damaging 0.94
R9295:Rusc2 UTSW 4 43,416,382 (GRCm39) missense probably damaging 0.98
R9483:Rusc2 UTSW 4 43,415,897 (GRCm39) missense probably damaging 0.97
R9666:Rusc2 UTSW 4 43,416,262 (GRCm39) missense probably benign 0.21
R9705:Rusc2 UTSW 4 43,424,936 (GRCm39) missense probably benign 0.00
X0025:Rusc2 UTSW 4 43,422,226 (GRCm39) missense probably benign 0.00
X0066:Rusc2 UTSW 4 43,422,204 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACAAGGAACTGCTGCGTGTGTC -3'
(R):5'- ACAGATCCTGGTTCTGCCTGTGTC -3'

Sequencing Primer
(F):5'- agcagcagcagcagtgg -3'
(R):5'- TGTCCTGATTTAGACCAGGC -3'
Posted On 2014-05-23