Incidental Mutation 'R5540:Rusc2'
ID 435868
Institutional Source Beutler Lab
Gene Symbol Rusc2
Ensembl Gene ENSMUSG00000035969
Gene Name RUN and SH3 domain containing 2
Synonyms
MMRRC Submission 043098-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R5540 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 43381979-43427088 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43423975 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1043 (Y1043C)
Ref Sequence ENSEMBL: ENSMUSP00000118528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000052829] [ENSMUST00000098106] [ENSMUST00000107928] [ENSMUST00000107929] [ENSMUST00000131668] [ENSMUST00000149221] [ENSMUST00000149676] [ENSMUST00000171134] [ENSMUST00000173682]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035645
AA Change: Y1043C

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: Y1043C

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 damaging
Transcript: ENSMUST00000098106
AA Change: Y1043C

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: Y1043C

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 damaging
Transcript: ENSMUST00000131668
AA Change: Y1043C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: Y1043C

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: ENSMUST00000146710
Predicted Effect probably benign
Transcript: ENSMUST00000149221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150066
Predicted Effect probably benign
Transcript: ENSMUST00000155080
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: 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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,362,947 (GRCm38) S15P probably damaging Het
Actl7a A T 4: 56,744,388 (GRCm38) H305L probably benign Het
Adam26b C A 8: 43,521,617 (GRCm38) C116F probably damaging Het
Adgrl2 A G 3: 148,837,562 (GRCm38) probably null Het
Akr1b10 A G 6: 34,394,112 (GRCm38) T238A probably damaging Het
Akr1c18 A G 13: 4,137,179 (GRCm38) V186A probably benign Het
Alpk3 G A 7: 81,095,436 (GRCm38) V1311M probably damaging Het
Aox1 A G 1: 58,104,410 (GRCm38) N1229S probably benign Het
Apobec3 T A 15: 79,897,919 (GRCm38) N43K probably benign Het
Arid1a A C 4: 133,680,454 (GRCm38) D2247E unknown Het
Asph A G 4: 9,635,906 (GRCm38) L77S probably damaging Het
Cd300ld T A 11: 114,987,405 (GRCm38) T94S probably damaging Het
Celf2 T C 2: 6,553,932 (GRCm38) T382A probably benign Het
Cfap54 C T 10: 92,972,608 (GRCm38) A1402T possibly damaging Het
Chrnb1 A T 11: 69,795,650 (GRCm38) V48E probably benign Het
Col6a5 T A 9: 105,862,776 (GRCm38) E2548V probably benign Het
Crebrf A G 17: 26,742,097 (GRCm38) D56G possibly damaging Het
Dctn5 A G 7: 122,135,052 (GRCm38) T40A probably benign Het
Dmxl2 A T 9: 54,393,857 (GRCm38) N2323K probably benign Het
Dync1h1 A G 12: 110,660,950 (GRCm38) Q4021R probably benign Het
Dyrk1a T G 16: 94,685,343 (GRCm38) probably null Het
Ephb3 T A 16: 21,220,860 (GRCm38) F454Y probably damaging Het
Fam71b A G 11: 46,404,888 (GRCm38) N29S probably damaging Het
Fbxo38 A G 18: 62,514,793 (GRCm38) probably null Het
Flg T C 3: 93,277,616 (GRCm38) F15S probably damaging Het
Fndc3b G A 3: 27,501,502 (GRCm38) P301L probably damaging Het
Fpr-rs7 C T 17: 20,114,094 (GRCm38) G45R probably damaging Het
Gfi1 T A 5: 107,720,125 (GRCm38) T360S probably damaging Het
Grik4 T C 9: 42,520,947 (GRCm38) H918R probably damaging Het
Hpx A G 7: 105,591,912 (GRCm38) S385P possibly damaging Het
Kdm5b A G 1: 134,631,241 (GRCm38) D1501G probably damaging Het
Kif20b A T 19: 34,938,460 (GRCm38) M546L probably benign Het
Map3k9 G T 12: 81,772,813 (GRCm38) N222K probably damaging Het
Me1 A G 9: 86,679,873 (GRCm38) L53P possibly damaging Het
Mis18bp1 T C 12: 65,148,746 (GRCm38) E748G possibly damaging Het
Morc3 T A 16: 93,847,380 (GRCm38) N186K probably benign Het
Mtor A G 4: 148,454,708 (GRCm38) T221A probably benign Het
Muc6 A G 7: 141,649,585 (GRCm38) probably null Het
Myh8 C A 11: 67,286,440 (GRCm38) T444N probably benign Het
Myo7b A G 18: 32,007,090 (GRCm38) Y216H probably damaging Het
Myom1 G A 17: 71,109,787 (GRCm38) V1382M probably damaging Het
Nbeal2 A T 9: 110,631,733 (GRCm38) Y1718N probably damaging Het
Npc1l1 A G 11: 6,214,546 (GRCm38) S1168P probably damaging Het
Olfr1431 T A 19: 12,210,460 (GRCm38) I298N probably damaging Het
Olfr463 T A 11: 87,893,685 (GRCm38) K80* probably null Het
Olfr48 A G 2: 89,844,667 (GRCm38) F102S probably damaging Het
Olfr561 C T 7: 102,774,929 (GRCm38) A135V probably benign Het
Olfr765 G T 10: 129,046,495 (GRCm38) D189E probably damaging Het
Pcdha4 C A 18: 36,954,837 (GRCm38) A691E probably benign Het
Pde6a T G 18: 61,231,366 (GRCm38) F165V probably damaging Het
Pqlc2 A T 4: 139,300,344 (GRCm38) L229Q probably damaging Het
Ptpn14 A T 1: 189,846,364 (GRCm38) M340L probably benign Het
Rnasel G T 1: 153,755,144 (GRCm38) E469* probably null Het
Rsph3a T G 17: 7,945,958 (GRCm38) L50R probably benign Het
Serpinb6b A T 13: 32,977,558 (GRCm38) K86* probably null Het
Serpine1 T C 5: 137,063,209 (GRCm38) T392A probably benign Het
Shcbp1 A T 8: 4,744,529 (GRCm38) D421E probably damaging Het
Slc24a1 A G 9: 64,948,581 (GRCm38) V348A unknown Het
Slc26a7 A G 4: 14,506,621 (GRCm38) F605L probably benign Het
Spag17 A C 3: 100,056,272 (GRCm38) E1102A possibly damaging Het
Stab2 A G 10: 86,848,125 (GRCm38) V2390A probably benign Het
Stk11 A G 10: 80,126,049 (GRCm38) I35V probably benign Het
Stk24 T C 14: 121,294,281 (GRCm38) D321G possibly damaging Het
Tbx4 A T 11: 85,911,168 (GRCm38) N209I possibly damaging Het
Tmem225 T C 9: 40,149,385 (GRCm38) L80P probably damaging Het
Tnfrsf4 C T 4: 156,013,923 (GRCm38) T17I probably benign Het
Traf3ip1 G A 1: 91,501,315 (GRCm38) R268Q probably benign Het
Trhde T A 10: 114,800,592 (GRCm38) I237F probably benign Het
Ugt2a1 A T 5: 87,486,056 (GRCm38) W231R probably damaging Het
Vash1 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 12: 86,680,057 (GRCm38) probably benign Het
Vps16 T A 2: 130,442,385 (GRCm38) D685E probably benign Het
Washc4 A G 10: 83,573,793 (GRCm38) D602G probably damaging Het
Wdr59 A G 8: 111,485,184 (GRCm38) L377P possibly damaging Het
Wdr81 T C 11: 75,449,070 (GRCm38) E1364G probably damaging Het
Other mutations in Rusc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Rusc2 APN 4 43,426,116 (GRCm38) missense probably damaging 0.97
IGL01474:Rusc2 APN 4 43,416,434 (GRCm38) missense probably damaging 0.98
IGL01541:Rusc2 APN 4 43,415,840 (GRCm38) missense probably benign 0.08
IGL01628:Rusc2 APN 4 43,425,729 (GRCm38) missense probably damaging 1.00
IGL01969:Rusc2 APN 4 43,415,738 (GRCm38) missense probably benign 0.02
IGL02030:Rusc2 APN 4 43,416,095 (GRCm38) missense possibly damaging 0.86
IGL02079:Rusc2 APN 4 43,425,668 (GRCm38) missense probably benign
IGL02115:Rusc2 APN 4 43,426,136 (GRCm38) splice site probably benign
IGL02122:Rusc2 APN 4 43,421,685 (GRCm38) missense possibly damaging 0.67
IGL02350:Rusc2 APN 4 43,425,351 (GRCm38) missense possibly damaging 0.86
IGL02357:Rusc2 APN 4 43,425,351 (GRCm38) missense possibly damaging 0.86
IGL02437:Rusc2 APN 4 43,415,545 (GRCm38) missense probably damaging 1.00
IGL02930:Rusc2 APN 4 43,416,376 (GRCm38) missense probably damaging 0.99
IGL03154:Rusc2 APN 4 43,425,806 (GRCm38) missense probably benign 0.00
P0026:Rusc2 UTSW 4 43,415,840 (GRCm38) missense possibly damaging 0.93
R0036:Rusc2 UTSW 4 43,424,009 (GRCm38) missense probably damaging 1.00
R0068:Rusc2 UTSW 4 43,424,100 (GRCm38) splice site probably benign
R0068:Rusc2 UTSW 4 43,424,100 (GRCm38) splice site probably benign
R0114:Rusc2 UTSW 4 43,422,055 (GRCm38) missense probably damaging 1.00
R0255:Rusc2 UTSW 4 43,423,954 (GRCm38) missense probably damaging 1.00
R0471:Rusc2 UTSW 4 43,425,486 (GRCm38) missense probably damaging 0.99
R1381:Rusc2 UTSW 4 43,416,137 (GRCm38) missense probably damaging 1.00
R1413:Rusc2 UTSW 4 43,416,568 (GRCm38) missense probably benign 0.00
R1416:Rusc2 UTSW 4 43,421,617 (GRCm38) missense possibly damaging 0.86
R1731:Rusc2 UTSW 4 43,426,046 (GRCm38) missense probably benign
R1864:Rusc2 UTSW 4 43,421,719 (GRCm38) missense possibly damaging 0.49
R1897:Rusc2 UTSW 4 43,421,749 (GRCm38) missense probably damaging 1.00
R2010:Rusc2 UTSW 4 43,415,212 (GRCm38) missense probably benign 0.06
R2212:Rusc2 UTSW 4 43,415,935 (GRCm38) missense probably damaging 1.00
R2275:Rusc2 UTSW 4 43,416,260 (GRCm38) missense probably damaging 1.00
R2885:Rusc2 UTSW 4 43,415,456 (GRCm38) missense probably benign 0.28
R2886:Rusc2 UTSW 4 43,415,456 (GRCm38) missense probably benign 0.28
R3412:Rusc2 UTSW 4 43,415,935 (GRCm38) missense probably damaging 1.00
R3413:Rusc2 UTSW 4 43,415,935 (GRCm38) missense probably damaging 1.00
R3414:Rusc2 UTSW 4 43,415,935 (GRCm38) missense probably damaging 1.00
R3852:Rusc2 UTSW 4 43,416,424 (GRCm38) missense probably benign 0.45
R4135:Rusc2 UTSW 4 43,425,563 (GRCm38) missense possibly damaging 0.49
R4272:Rusc2 UTSW 4 43,415,533 (GRCm38) missense probably damaging 1.00
R4574:Rusc2 UTSW 4 43,416,080 (GRCm38) missense probably damaging 0.99
R4888:Rusc2 UTSW 4 43,423,942 (GRCm38) missense probably damaging 1.00
R5010:Rusc2 UTSW 4 43,415,926 (GRCm38) missense probably damaging 1.00
R5071:Rusc2 UTSW 4 43,415,240 (GRCm38) missense probably benign 0.05
R5131:Rusc2 UTSW 4 43,414,948 (GRCm38) missense probably benign 0.03
R5177:Rusc2 UTSW 4 43,421,805 (GRCm38) splice site probably null
R5561:Rusc2 UTSW 4 43,415,932 (GRCm38) nonsense probably null
R5628:Rusc2 UTSW 4 43,425,348 (GRCm38) missense probably damaging 1.00
R5645:Rusc2 UTSW 4 43,425,758 (GRCm38) missense probably benign 0.06
R6129:Rusc2 UTSW 4 43,424,271 (GRCm38) missense probably damaging 1.00
R6362:Rusc2 UTSW 4 43,416,416 (GRCm38) missense probably benign 0.30
R6633:Rusc2 UTSW 4 43,414,852 (GRCm38) missense probably damaging 0.99
R6980:Rusc2 UTSW 4 43,422,846 (GRCm38) missense probably benign 0.35
R7491:Rusc2 UTSW 4 43,426,528 (GRCm38) missense probably damaging 1.00
R7641:Rusc2 UTSW 4 43,425,335 (GRCm38) missense possibly damaging 0.84
R7698:Rusc2 UTSW 4 43,414,900 (GRCm38) nonsense probably null
R7710:Rusc2 UTSW 4 43,416,119 (GRCm38) missense probably benign 0.07
R8052:Rusc2 UTSW 4 43,421,851 (GRCm38) missense probably benign
R8061:Rusc2 UTSW 4 43,422,492 (GRCm38) missense probably damaging 1.00
R8127:Rusc2 UTSW 4 43,423,747 (GRCm38) missense possibly damaging 0.54
R8319:Rusc2 UTSW 4 43,425,378 (GRCm38) missense probably damaging 1.00
R8355:Rusc2 UTSW 4 43,422,846 (GRCm38) missense probably benign 0.35
R8397:Rusc2 UTSW 4 43,424,206 (GRCm38) missense possibly damaging 0.95
R8455:Rusc2 UTSW 4 43,422,846 (GRCm38) missense probably benign 0.35
R8553:Rusc2 UTSW 4 43,416,508 (GRCm38) missense probably benign 0.05
R8725:Rusc2 UTSW 4 43,401,351 (GRCm38) intron probably benign
R8725:Rusc2 UTSW 4 43,415,396 (GRCm38) missense probably damaging 0.99
R8727:Rusc2 UTSW 4 43,401,351 (GRCm38) intron probably benign
R8834:Rusc2 UTSW 4 43,416,431 (GRCm38) missense possibly damaging 0.94
R9295:Rusc2 UTSW 4 43,416,382 (GRCm38) missense probably damaging 0.98
R9483:Rusc2 UTSW 4 43,415,897 (GRCm38) missense probably damaging 0.97
R9666:Rusc2 UTSW 4 43,416,262 (GRCm38) missense probably benign 0.21
R9705:Rusc2 UTSW 4 43,424,936 (GRCm38) missense probably benign 0.00
X0025:Rusc2 UTSW 4 43,422,226 (GRCm38) missense probably benign 0.00
X0066:Rusc2 UTSW 4 43,422,204 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAGAGCTGAGCTATGCCCTG -3'
(R):5'- GCAGGTTTGGAGATCACATTTC -3'

Sequencing Primer
(F):5'- TGAGCTATGCCCTGCAGACTC -3'
(R):5'- GGAGATCACATTTCTAACTTCTGG -3'
Posted On 2016-10-24