Incidental Mutation 'R5645:Rusc2'
ID 441044
Institutional Source Beutler Lab
Gene Symbol Rusc2
Ensembl Gene ENSMUSG00000035969
Gene Name RUN and SH3 domain containing 2
Synonyms
MMRRC Submission 043293-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R5645 (G1)
Quality Score 186
Status Not validated
Chromosome 4
Chromosomal Location 43381979-43427088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43425758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 1288 (A1288S)
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: A1288S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: A1288S

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: A1288S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: A1288S

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: A1288S

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: A1288S

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: ENSMUST00000149556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154754
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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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
1700102P08Rik A G 9: 108,274,403 (GRCm39) I169V probably damaging Het
4930503B20Rik C T 3: 146,356,264 (GRCm39) E215K probably damaging Het
Abca6 T C 11: 110,141,234 (GRCm39) E29G probably damaging Het
Acsm1 A G 7: 119,239,920 (GRCm39) H288R probably damaging Het
Adamts12 A G 15: 11,277,506 (GRCm39) T707A possibly damaging Het
Adcy2 C A 13: 68,877,321 (GRCm39) probably null Het
Agbl4 A T 4: 111,514,527 (GRCm39) I513F possibly damaging Het
Ak5 A T 3: 152,361,670 (GRCm39) M84K possibly damaging Het
Akap1 T C 11: 88,736,453 (GRCm39) T103A probably benign Het
Akap9 A G 5: 4,100,590 (GRCm39) T2751A probably benign Het
Amer3 A T 1: 34,627,462 (GRCm39) H567L possibly damaging Het
Ano6 A G 15: 95,818,232 (GRCm39) Y325C probably benign Het
Apba2 A G 7: 64,345,554 (GRCm39) E248G possibly damaging Het
Asap2 T A 12: 21,315,983 (GRCm39) V967E probably damaging Het
Atosa T A 9: 74,932,961 (GRCm39) V976E probably damaging Het
Boc A G 16: 44,320,024 (GRCm39) V320A probably damaging Het
Car13 T A 3: 14,710,180 (GRCm39) Y41N possibly damaging Het
Ccdc162 T C 10: 41,428,352 (GRCm39) T1976A probably benign Het
Cep295 C A 9: 15,246,404 (GRCm39) S684I possibly damaging Het
Cep295 A T 9: 15,244,090 (GRCm39) H1455Q probably damaging Het
Cr2 G T 1: 194,836,581 (GRCm39) H861N probably damaging Het
Cul5 T C 9: 53,534,243 (GRCm39) I630V probably benign Het
Cyp2c37 G A 19: 39,982,596 (GRCm39) V145I probably benign Het
Dnmt1 G A 9: 20,833,443 (GRCm39) T500M probably damaging Het
Elp1 T C 4: 56,776,920 (GRCm39) T626A possibly damaging Het
Fam161a T A 11: 22,965,725 (GRCm39) I6N probably damaging Het
Fry T C 5: 150,304,332 (GRCm39) V574A probably damaging Het
Glb1l3 G T 9: 26,736,122 (GRCm39) L553I probably benign Het
Gm1123 T C 9: 98,896,244 (GRCm39) D212G probably benign Het
Grin2a T A 16: 9,810,090 (GRCm39) D103V probably damaging Het
Heg1 A G 16: 33,527,333 (GRCm39) I98V probably benign Het
Hmcn2 C A 2: 31,310,824 (GRCm39) T3356N possibly damaging Het
Hpf1 T G 8: 61,349,834 (GRCm39) I154S possibly damaging Het
Ifnar2 A G 16: 91,201,115 (GRCm39) D452G possibly damaging Het
Iqcc A T 4: 129,510,320 (GRCm39) H398Q possibly damaging Het
Iqgap3 T C 3: 88,025,006 (GRCm39) I669T probably damaging Het
Itgae A G 11: 73,020,074 (GRCm39) T859A probably damaging Het
Kansl1l T C 1: 66,840,503 (GRCm39) M266V probably benign Het
Kbtbd3 A G 9: 4,331,426 (GRCm39) D600G possibly damaging Het
Klf13 G A 7: 63,541,348 (GRCm39) probably benign Het
Kmt2d A G 15: 98,742,278 (GRCm39) probably benign Het
Lama1 A G 17: 68,109,943 (GRCm39) D2188G probably damaging Het
Leng8 A G 7: 4,148,273 (GRCm39) T682A probably damaging Het
Mab21l4 T C 1: 93,080,668 (GRCm39) T413A probably damaging Het
Mslnl G T 17: 25,956,816 (GRCm39) G34V possibly damaging Het
Mycbp2 A T 14: 103,426,044 (GRCm39) S2360R probably damaging Het
Mycbp2 C A 14: 103,426,051 (GRCm39) probably null Het
Nkx2-2 T C 2: 147,026,319 (GRCm39) T140A probably damaging Het
Or11h6 T C 14: 50,880,524 (GRCm39) V262A probably benign Het
Or4c125 A T 2: 89,170,049 (GRCm39) V199E possibly damaging Het
Oser1 C T 2: 163,248,965 (GRCm39) R79H probably damaging Het
Pfas A G 11: 68,881,958 (GRCm39) V909A probably damaging Het
Pkhd1l1 A G 15: 44,396,388 (GRCm39) E1970G probably benign Het
Prph2 G T 17: 47,221,593 (GRCm39) probably benign Het
Scart2 G A 7: 139,828,853 (GRCm39) V171I possibly damaging Het
Sdha A G 13: 74,471,958 (GRCm39) probably null Het
Sec16a T G 2: 26,329,907 (GRCm39) T703P probably benign Het
Senp7 T A 16: 55,993,571 (GRCm39) N724K possibly damaging Het
Skint1 A G 4: 111,882,699 (GRCm39) I248V probably benign Het
Slc9a5 T C 8: 106,083,645 (GRCm39) V395A probably benign Het
Slco1a4 T C 6: 141,780,385 (GRCm39) N135S possibly damaging Het
Sncaip A G 18: 53,028,028 (GRCm39) I412M probably damaging Het
Tacc2 A T 7: 130,225,781 (GRCm39) D841V possibly damaging Het
Tekt1 A T 11: 72,242,663 (GRCm39) H281Q probably benign Het
Tex46 G T 4: 136,340,228 (GRCm39) M104I probably benign Het
Tjp3 T C 10: 81,114,454 (GRCm39) probably null Het
Treh A G 9: 44,593,975 (GRCm39) Y154C probably damaging Het
Trim80 T A 11: 115,337,611 (GRCm39) L428Q probably damaging Het
Trpm6 A G 19: 18,830,968 (GRCm39) K1278E probably damaging Het
Tut4 G A 4: 108,414,570 (GRCm39) R49H probably damaging Het
Usp34 T C 11: 23,325,024 (GRCm39) M990T possibly damaging Het
Vps9d1 A G 8: 123,974,487 (GRCm39) S267P probably benign Het
Ywhae T C 11: 75,647,750 (GRCm39) M160T probably benign 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
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
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'- ACTCAACACTGCAGTTGGCC -3'
(R):5'- TCAGCTAGCACAGAGTCAGG -3'

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