Incidental Mutation 'R1864:Rusc2'
ID 208467
Institutional Source Beutler Lab
Gene Symbol Rusc2
Ensembl Gene ENSMUSG00000035969
Gene Name RUN and SH3 domain containing 2
Synonyms
MMRRC Submission 039887-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R1864 (G1)
Quality Score 159
Status Not validated
Chromosome 4
Chromosomal Location 43381979-43427088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 43421719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 713 (A713D)
Ref Sequence ENSEMBL: ENSMUSP00000095710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000098106] [ENSMUST00000131668] [ENSMUST00000149221] [ENSMUST00000173682]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000035645
AA Change: A713D

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: A713D

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 possibly damaging
Transcript: ENSMUST00000098106
AA Change: A713D

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: A713D

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 noncoding transcript
Transcript: ENSMUST00000123447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125393
Predicted Effect probably benign
Transcript: ENSMUST00000131668
AA Change: A713D

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: A713D

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 probably benign
Transcript: ENSMUST00000173682
AA Change: P608T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: P608T

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 noncoding transcript
Transcript: ENSMUST00000149556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154754
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.1%
  • 20x: 92.1%
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 G A X: 159,265,347 (GRCm39) M532I probably benign Het
Agtpbp1 A G 13: 59,598,016 (GRCm39) Y1198H possibly damaging Het
Ahcyl2 G A 6: 29,908,354 (GRCm39) V575M probably damaging Het
Akp3 TCACCACCACCACCACCACCACCACCACCAC TCACCACCACCACCACCACCACCACCAC 1: 87,055,489 (GRCm39) probably benign Het
Ankrd50 A T 3: 38,508,610 (GRCm39) N329K probably benign Het
Ano4 C A 10: 88,807,253 (GRCm39) G741V probably damaging Het
Anxa1 T C 19: 20,357,053 (GRCm39) D191G probably benign Het
Apc2 C T 10: 80,149,482 (GRCm39) T1512I probably damaging Het
Aph1b A T 9: 66,701,395 (GRCm39) C81S probably benign Het
Arhgap21 T C 2: 20,866,015 (GRCm39) E893G probably damaging Het
Arhgef28 A T 13: 98,130,640 (GRCm39) H399Q probably benign Het
Asic5 A G 3: 81,919,294 (GRCm39) E304G probably benign Het
B4galnt4 A G 7: 140,650,446 (GRCm39) Y771C probably damaging Het
Birc2 G T 9: 7,819,518 (GRCm39) Q465K probably benign Het
Btla C T 16: 45,070,737 (GRCm39) T232I probably damaging Het
Ccl7 G T 11: 81,937,378 (GRCm39) K37N probably benign Het
Cdk17 T C 10: 93,061,967 (GRCm39) V233A probably damaging Het
Cenatac A G 9: 44,329,018 (GRCm39) C66R probably damaging Het
Cilp2 C A 8: 70,333,973 (GRCm39) Q1008H probably damaging Het
Clcn1 T A 6: 42,282,475 (GRCm39) D442E probably damaging Het
Clcnka T C 4: 141,120,113 (GRCm39) T269A probably damaging Het
Col12a1 A T 9: 79,534,385 (GRCm39) probably null Het
Cts6 A G 13: 61,349,393 (GRCm39) I105T probably benign Het
Cyp3a25 T C 5: 145,931,739 (GRCm39) D123G probably damaging Het
D630003M21Rik A T 2: 158,045,105 (GRCm39) L808Q probably damaging Het
Ddrgk1 A T 2: 130,496,215 (GRCm39) I270N probably damaging Het
Dhx15 T C 5: 52,342,043 (GRCm39) T92A possibly damaging Het
Dhx32 A T 7: 133,339,025 (GRCm39) C197S probably benign Het
Diaph2 G A X: 128,860,876 (GRCm39) R473Q probably damaging Het
Dnd1 A G 18: 36,899,057 (GRCm39) C11R possibly damaging Het
Dock1 A C 7: 134,748,236 (GRCm39) D1566A probably benign Het
Drp2 A G X: 133,327,864 (GRCm39) I43V probably benign Het
Ecm2 T C 13: 49,683,621 (GRCm39) V533A probably benign Het
Ecpas T A 4: 58,849,942 (GRCm39) H427L possibly damaging Het
Emilin1 A G 5: 31,075,934 (GRCm39) E725G probably damaging Het
Eml2 A G 7: 18,935,803 (GRCm39) Y487C probably damaging Het
Epg5 T A 18: 78,018,246 (GRCm39) L919H probably damaging Het
Fam187a T A 11: 102,776,837 (GRCm39) S214T probably damaging Het
Flna T C X: 73,283,869 (GRCm39) T521A probably benign Het
Foxi1 T A 11: 34,157,531 (GRCm39) I165F probably damaging Het
Fxr2 A T 11: 69,543,103 (GRCm39) K633N probably benign Het
Gdpd5 T C 7: 99,098,206 (GRCm39) I209T probably benign Het
Gmpr G T 13: 45,696,101 (GRCm39) V278F probably damaging Het
Grm7 A T 6: 111,057,384 (GRCm39) D328V probably benign Het
Heatr6 T C 11: 83,660,056 (GRCm39) S534P probably damaging Het
Heph A G X: 95,573,092 (GRCm39) T792A probably damaging Het
Hipk2 T A 6: 38,695,870 (GRCm39) probably null Het
Hps3 T A 3: 20,074,123 (GRCm39) probably null Het
Hspa5 T C 2: 34,664,553 (GRCm39) F336L probably damaging Het
Insc T C 7: 114,441,413 (GRCm39) I409T probably benign Het
Kcnj8 T A 6: 142,515,966 (GRCm39) H47L probably damaging Het
Kcnma1 T A 14: 23,853,230 (GRCm39) Q108L probably damaging Het
Klc3 A G 7: 19,131,966 (GRCm39) V137A probably damaging Het
Lcn2 T C 2: 32,275,434 (GRCm39) T194A possibly damaging Het
Lgr4 T A 2: 109,841,742 (GRCm39) F576I possibly damaging Het
Lypd6b A G 2: 49,837,459 (GRCm39) I144V possibly damaging Het
Mctp1 G A 13: 76,533,267 (GRCm39) C205Y possibly damaging Het
Mitf A T 6: 97,987,383 (GRCm39) N159I probably damaging Het
Morc1 T C 16: 48,412,893 (GRCm39) I678T probably benign Het
Muc4 A G 16: 32,576,625 (GRCm39) probably benign Het
Myo7a T C 7: 97,701,463 (GRCm39) Y2115C probably damaging Het
Myof T C 19: 37,975,153 (GRCm39) I182V probably benign Het
Ncor1 A G 11: 62,272,245 (GRCm39) V635A probably damaging Het
Neb G T 2: 52,102,772 (GRCm39) Y4257* probably null Het
Npr2 T A 4: 43,641,258 (GRCm39) V428E probably benign Het
Nufip2 A G 11: 77,583,124 (GRCm39) D346G probably damaging Het
Obsl1 G A 1: 75,469,753 (GRCm39) S1088F probably benign Het
Or10s1 T G 9: 39,986,081 (GRCm39) I163M possibly damaging Het
Or2ag1 T C 7: 106,313,030 (GRCm39) N286S possibly damaging Het
Or4c127 T A 2: 89,832,825 (GRCm39) V25E probably benign Het
Or4k38 C T 2: 111,166,052 (GRCm39) V124M possibly damaging Het
Or5ac22 A G 16: 59,135,378 (GRCm39) Y131H probably damaging Het
Or8b9 T A 9: 37,766,560 (GRCm39) Y149N probably damaging Het
Pdgfrb G A 18: 61,204,789 (GRCm39) V550I probably benign Het
Pi4ka A T 16: 17,185,389 (GRCm39) L237* probably null Het
Pla2r1 G A 2: 60,259,055 (GRCm39) T1111M probably benign Het
Plxnd1 A T 6: 115,946,402 (GRCm39) probably null Het
Pnp G C 14: 51,185,430 (GRCm39) A67P probably benign Het
Ppp1r3a A T 6: 14,718,404 (GRCm39) S837T probably damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prom2 T C 2: 127,381,707 (GRCm39) D203G probably benign Het
Pum1 T C 4: 130,478,836 (GRCm39) V486A possibly damaging Het
Rnf115 A G 3: 96,635,153 (GRCm39) probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Ryr3 A T 2: 112,560,673 (GRCm39) H3009Q possibly damaging Het
Serpina1d C A 12: 103,734,256 (GRCm39) C16F probably benign Het
Serpinf2 G T 11: 75,328,309 (GRCm39) R80S possibly damaging Het
Sh2d4a C A 8: 68,781,967 (GRCm39) Q192K probably benign Het
Sh3d21 T A 4: 126,044,729 (GRCm39) probably null Het
Sh3rf2 T A 18: 42,187,046 (GRCm39) L55Q probably damaging Het
Shc4 T C 2: 125,481,287 (GRCm39) D255G probably damaging Het
Skint2 T A 4: 112,483,106 (GRCm39) H170Q probably benign Het
Slc29a4 A G 5: 142,703,509 (GRCm39) Y261C probably damaging Het
Slc35a5 A T 16: 44,964,071 (GRCm39) N102K possibly damaging Het
Slc38a3 A T 9: 107,533,152 (GRCm39) I307K probably damaging Het
Sv2b A T 7: 74,773,828 (GRCm39) S548T probably benign Het
Tgfbi T C 13: 56,780,694 (GRCm39) S524P probably benign Het
Tgm5 T C 2: 120,905,699 (GRCm39) D152G probably damaging Het
Tmem213 A G 6: 38,086,487 (GRCm39) T48A possibly damaging Het
Tmem37 A G 1: 119,995,952 (GRCm39) S42P probably damaging Het
Trpm1 A G 7: 63,917,764 (GRCm39) K1258R probably damaging Het
Ttc22 T C 4: 106,494,003 (GRCm39) V321A probably benign Het
Ube2c C A 2: 164,611,943 (GRCm39) A15E probably benign Het
Ubn2 T A 6: 38,417,425 (GRCm39) D154E possibly damaging Het
Umod A T 7: 119,062,478 (GRCm39) L631M probably damaging Het
Ush1c G A 7: 45,868,816 (GRCm39) Q373* probably null Het
Vmn1r238 T A 18: 3,123,040 (GRCm39) R125* probably null Het
Wnt8b T C 19: 44,482,029 (GRCm39) L14P probably benign Het
Wrn G A 8: 33,778,892 (GRCm39) A563V probably damaging Het
Zfp268 A T 4: 145,348,998 (GRCm39) Q145L possibly damaging Het
Zfp608 A G 18: 55,030,983 (GRCm39) S986P probably benign Het
Znrf3 T C 11: 5,233,373 (GRCm39) H228R possibly 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
R1731:Rusc2 UTSW 4 43,426,046 (GRCm39) missense probably benign
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'- ATTGGGTATCACCGATCCTTGTG -3'
(R):5'- AGTCGGTGCTAGACCCAAAG -3'

Sequencing Primer
(F):5'- GGTATCACCGATCCTTGTGATTCTTC -3'
(R):5'- AGGTCTCTGGTTCAGGCC -3'
Posted On 2014-06-30