Incidental Mutation 'R2275:Rusc2'
ID 242710
Institutional Source Beutler Lab
Gene Symbol Rusc2
Ensembl Gene ENSMUSG00000035969
Gene Name RUN and SH3 domain containing 2
Synonyms
MMRRC Submission 040274-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R2275 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 43381979-43427088 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43416260 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 522 (R522H)
Ref Sequence ENSEMBL: ENSMUSP00000133715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000098106] [ENSMUST00000125399] [ENSMUST00000131668] [ENSMUST00000135216] [ENSMUST00000136360] [ENSMUST00000139198] [ENSMUST00000144911] [ENSMUST00000173682] [ENSMUST00000149221] [ENSMUST00000152322]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035645
AA Change: R522H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: R522H

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 damaging
Transcript: ENSMUST00000098106
AA Change: R522H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: R522H

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: ENSMUST00000125393
Predicted Effect probably benign
Transcript: ENSMUST00000125399
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131037
Predicted Effect probably damaging
Transcript: ENSMUST00000131668
AA Change: R522H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: R522H

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 probably benign
Transcript: ENSMUST00000135216
Predicted Effect probably benign
Transcript: ENSMUST00000136360
SMART Domains Protein: ENSMUSP00000123431
Gene: ENSMUSG00000035969

DomainStartEndE-ValueType
low complexity region 39 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139198
SMART Domains Protein: ENSMUSP00000121528
Gene: ENSMUSG00000035969

DomainStartEndE-ValueType
low complexity region 39 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144911
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146710
Predicted Effect probably damaging
Transcript: ENSMUST00000173682
AA Change: R522H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: R522H

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: ENSMUST00000150066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149556
Predicted Effect probably benign
Transcript: ENSMUST00000149221
Predicted Effect probably benign
Transcript: ENSMUST00000152322
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013F07Rik A G 3: 108,542,503 (GRCm38) N33D possibly damaging Het
2300003K06Rik A T 11: 99,837,841 (GRCm38) C59S possibly damaging Het
Abca5 A T 11: 110,275,281 (GRCm38) N1556K possibly damaging Het
Ackr1 T C 1: 173,332,485 (GRCm38) N156D probably benign Het
Aco2 C T 15: 81,895,264 (GRCm38) R57C probably benign Het
Adamtsl3 A T 7: 82,606,558 (GRCm38) S1593C probably benign Het
Adgrb2 G A 4: 130,006,854 (GRCm38) G333D probably damaging Het
Arhgef7 T A 8: 11,815,010 (GRCm38) F374Y possibly damaging Het
Armc4 C A 18: 7,223,676 (GRCm38) G456W probably benign Het
Atxn7 T A 14: 14,013,268 (GRCm38) M62K possibly damaging Het
C87436 G A 6: 86,445,600 (GRCm38) R52H probably damaging Het
Cacna1g T A 11: 94,415,936 (GRCm38) E1842V probably damaging Het
Cdh4 T C 2: 179,890,847 (GRCm38) S701P probably damaging Het
Cdr2 A T 7: 120,958,509 (GRCm38) H264Q possibly damaging Het
Cecr2 C T 6: 120,756,741 (GRCm38) S563L probably benign Het
Col12a1 A T 9: 79,635,427 (GRCm38) V2352E probably damaging Het
Col9a2 C G 4: 121,054,258 (GRCm38) R599G probably damaging Het
Crygs C T 16: 22,805,551 (GRCm38) G102D possibly damaging Het
Csad G T 15: 102,187,122 (GRCm38) R167S probably damaging Het
Dnlz A T 2: 26,351,471 (GRCm38) C82S probably damaging Het
Ehmt2 T A 17: 34,910,715 (GRCm38) N951K possibly damaging Het
Emilin1 C T 5: 30,917,738 (GRCm38) P441L possibly damaging Het
Enpp2 A C 15: 54,897,794 (GRCm38) Y221D probably damaging Het
Exoc3l A T 8: 105,290,447 (GRCm38) probably null Het
F11 T C 8: 45,252,147 (GRCm38) D119G possibly damaging Het
Faiml T C 9: 99,229,559 (GRCm38) Y149C probably benign Het
Fn1 C T 1: 71,613,943 (GRCm38) G1296R probably null Het
Glg1 A T 8: 111,168,721 (GRCm38) Y819* probably null Het
Gm11568 A G 11: 99,858,244 (GRCm38) S92G unknown Het
Gm28042 A C 2: 120,036,829 (GRCm38) Q465P probably damaging Het
Gpatch1 A T 7: 35,288,678 (GRCm38) S678T probably benign Het
Gpr158 A T 2: 21,826,863 (GRCm38) M925L probably benign Het
Hecw1 T C 13: 14,346,068 (GRCm38) T195A probably benign Het
Hoxd1 A G 2: 74,764,157 (GRCm38) K252R probably damaging Het
Iqck G A 7: 118,899,657 (GRCm38) D173N possibly damaging Het
Kcnh1 T G 1: 192,337,521 (GRCm38) V358G probably damaging Het
Kifap3 T A 1: 163,868,758 (GRCm38) V652D possibly damaging Het
Knl1 C A 2: 119,072,281 (GRCm38) Q1488K probably damaging Het
Map4k1 T A 7: 29,001,957 (GRCm38) H729Q probably damaging Het
March1 T A 8: 66,387,499 (GRCm38) N311K probably benign Het
Mypn A G 10: 63,131,069 (GRCm38) F943L probably damaging Het
Nkpd1 A G 7: 19,523,897 (GRCm38) I534V probably benign Het
Nrarp T C 2: 25,181,409 (GRCm38) V100A possibly damaging Het
Nt5c1a T C 4: 123,216,080 (GRCm38) F324S probably damaging Het
Ntrk2 T A 13: 58,861,351 (GRCm38) Y319N probably damaging Het
Olfr1170 A G 2: 88,224,823 (GRCm38) F70L probably benign Het
Parg A G 14: 32,295,238 (GRCm38) D384G probably damaging Het
Pde7b T A 10: 20,400,419 (GRCm38) *460L probably null Het
Pigr G T 1: 130,846,470 (GRCm38) V396L probably benign Het
Pkhd1 A G 1: 20,200,849 (GRCm38) I3160T possibly damaging Het
Ppl T C 16: 5,094,552 (GRCm38) S722G probably benign Het
Ppp1r26 A G 2: 28,452,701 (GRCm38) E781G possibly damaging Het
Rptor T A 11: 119,756,322 (GRCm38) C246* probably null Het
Senp7 T C 16: 56,184,783 (GRCm38) S927P probably damaging Het
Serpinb6d A T 13: 33,671,428 (GRCm38) M362L probably benign Het
Setx GTGGCT GT 2: 29,154,061 (GRCm38) 1814 probably null Het
Slc12a3 T A 8: 94,333,287 (GRCm38) I187N possibly damaging Het
Slc46a1 T G 11: 78,466,423 (GRCm38) S101A probably benign Het
Slc4a8 A G 15: 100,807,402 (GRCm38) M830V probably benign Het
Slco4a1 T C 2: 180,464,736 (GRCm38) L237P possibly damaging Het
Sned1 T A 1: 93,281,642 (GRCm38) probably null Het
Tia1 A G 6: 86,427,677 (GRCm38) N298S probably benign Het
Tsr1 A T 11: 74,904,827 (GRCm38) probably null Het
Ttc6 G A 12: 57,702,298 (GRCm38) V1339I probably benign Het
Tyrp1 A T 4: 80,837,534 (GRCm38) E180V probably damaging Het
Ubr3 T C 2: 70,016,341 (GRCm38) V1636A probably benign Het
Usp1 T C 4: 98,929,842 (GRCm38) L139P probably damaging Het
Vmn1r228 A G 17: 20,776,545 (GRCm38) L237P probably damaging Het
Vmn1r232 A G 17: 20,914,203 (GRCm38) L45P probably benign Het
Vmn2r2 T C 3: 64,116,509 (GRCm38) R884G probably benign Het
Vmn2r60 T A 7: 42,136,827 (GRCm38) Y351* probably null Het
Zbtb7a G A 10: 81,144,997 (GRCm38) V342I possibly damaging Het
Zdhhc11 C A 13: 73,973,752 (GRCm38) N127K 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
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
R5540:Rusc2 UTSW 4 43,423,975 (GRCm38) missense probably damaging 1.00
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'- AGTATTACCTCTTCCAGAAGCCAG -3'
(R):5'- TGGATGGGCGAGAACTCTTG -3'

Sequencing Primer
(F):5'- TTACCTCTTCCAGAAGCCAGACATC -3'
(R):5'- TCTTGGGAAGAATCTCCAACG -3'
Posted On 2014-10-16