Incidental Mutation 'R5628:Rusc2'
ID 441914
Institutional Source Beutler Lab
Gene Symbol Rusc2
Ensembl Gene ENSMUSG00000035969
Gene Name RUN and SH3 domain containing 2
Synonyms
MMRRC Submission 043167-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R5628 (G1)
Quality Score 202
Status Not validated
Chromosome 4
Chromosomal Location 43381979-43427088 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43425348 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1151 (T1151M)
Ref Sequence ENSEMBL: ENSMUSP00000095710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000052829] [ENSMUST00000098106] [ENSMUST00000107928] [ENSMUST00000107929] [ENSMUST00000131668] [ENSMUST00000149221] [ENSMUST00000173682] [ENSMUST00000171134] [ENSMUST00000149676]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035645
AA Change: T1151M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: T1151M

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: T1151M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: T1151M

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: T1151M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: T1151M

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: ENSMUST00000150066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154754
Predicted Effect probably benign
Transcript: ENSMUST00000155080
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: ENSMUST00000171134
SMART Domains Protein: ENSMUSP00000127145
Gene: ENSMUSG00000042788

DomainStartEndE-ValueType
Pfam:DUF2475 15 76 7.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149676
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A G 8: 40,755,710 (GRCm38) D671G probably benign Het
Ap3b1 A G 13: 94,477,048 (GRCm38) D685G unknown Het
Atp6v1h G A 1: 5,135,889 (GRCm38) W358* probably null Het
Atr T A 9: 95,874,226 (GRCm38) Y830* probably null Het
B3galnt2 A T 13: 13,995,152 (GRCm38) probably null Het
Casz1 T C 4: 148,946,096 (GRCm38) Y1191H probably damaging Het
Cdc40 T G 10: 40,851,053 (GRCm38) E169D probably benign Het
Cep55 C T 19: 38,069,948 (GRCm38) Q330* probably null Het
Clcn1 T C 6: 42,298,889 (GRCm38) V315A probably damaging Het
Cmya5 A G 13: 93,089,710 (GRCm38) F2957L probably damaging Het
Dnah2 C T 11: 69,458,920 (GRCm38) R2399Q probably benign Het
Dync1li2 T C 8: 104,420,592 (GRCm38) N490S possibly damaging Het
Ephb3 T C 16: 21,218,119 (GRCm38) Y111H probably damaging Het
Fam186a A C 15: 99,941,747 (GRCm38) H2205Q possibly damaging Het
Fat3 T C 9: 15,966,096 (GRCm38) Y3407C probably damaging Het
Fbxw8 A G 5: 118,092,557 (GRCm38) V393A probably damaging Het
Fnip1 A T 11: 54,503,633 (GRCm38) D965V probably benign Het
Gramd2 T C 9: 59,707,723 (GRCm38) M3T probably benign Het
Kctd15 T C 7: 34,640,295 (GRCm38) D283G probably damaging Het
Kif9 C T 9: 110,514,553 (GRCm38) R547* probably null Het
Map4 A G 9: 110,081,847 (GRCm38) T245A probably benign Het
Mindy4 C T 6: 55,260,594 (GRCm38) L385F probably damaging Het
Myo7b A G 18: 31,974,187 (GRCm38) C1252R probably benign Het
Myt1l T A 12: 29,811,621 (GRCm38) I134N unknown Het
Olfr1022 T A 2: 85,868,805 (GRCm38) I71N probably damaging Het
Osgin2 T A 4: 15,998,998 (GRCm38) N208I probably benign Het
Polr2b G A 5: 77,313,216 (GRCm38) V29M probably damaging Het
Prdm15 T A 16: 97,799,623 (GRCm38) M812L probably damaging Het
Prr36 TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC 8: 4,216,273 (GRCm38) probably benign Het
Rev3l T A 10: 39,822,967 (GRCm38) N1153K probably damaging Het
Rnf17 A G 14: 56,486,952 (GRCm38) probably null Het
Scrib T C 15: 76,049,540 (GRCm38) T30A possibly damaging Het
Sephs1 T C 2: 4,889,207 (GRCm38) I73T probably benign Het
Sf3b1 C T 1: 54,998,175 (GRCm38) A861T probably benign Het
Shq1 A G 6: 100,631,003 (GRCm38) W316R probably damaging Het
Slc26a5 T A 5: 21,816,976 (GRCm38) D484V probably benign Het
Smg1 C T 7: 118,154,701 (GRCm38) probably benign Het
Stard5 T C 7: 83,633,147 (GRCm38) I56T probably benign Het
Szt2 A G 4: 118,373,217 (GRCm38) V2653A unknown Het
Tmem217 A T 17: 29,526,456 (GRCm38) I100N probably damaging Het
Trpm2 C T 10: 77,912,636 (GRCm38) R1400Q probably benign Het
Vmn1r82 T G 7: 12,305,278 (GRCm38) N41K probably damaging Het
Zfp236 T C 18: 82,657,122 (GRCm38) D367G probably damaging Het
Zfyve1 A T 12: 83,574,889 (GRCm38) V244E probably benign 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
R5540:Rusc2 UTSW 4 43,423,975 (GRCm38) missense probably damaging 1.00
R5561:Rusc2 UTSW 4 43,415,932 (GRCm38) nonsense probably null
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'- AACCCAGAGCTGCTGTTTG -3'
(R):5'- AGTGTTGAGTGCGCAGACAG -3'

Sequencing Primer
(F):5'- AGCAGCCTTTGTGCAAACG -3'
(R):5'- AGACAGCAGCAGGTCCTG -3'
Posted On 2016-11-08