Incidental Mutation 'R1416:Rusc2'
ID 159574
Institutional Source Beutler Lab
Gene Symbol Rusc2
Ensembl Gene ENSMUSG00000035969
Gene Name RUN and SH3 domain containing 2
Synonyms
MMRRC Submission 039472-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R1416 (G1)
Quality Score 192
Status Validated
Chromosome 4
Chromosomal Location 43381979-43427088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43421617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 679 (E679G)
Ref Sequence ENSEMBL: ENSMUSP00000118528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000098106] [ENSMUST00000131668] [ENSMUST00000173682] [ENSMUST00000149221]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000035645
AA Change: E679G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: E679G

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: E679G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: E679G

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 possibly damaging
Transcript: ENSMUST00000131668
AA Change: E679G

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: E679G

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: ENSMUST00000173682
AA Change: K574E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: K574E

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
Predicted Effect probably benign
Transcript: ENSMUST00000149221
Meta Mutation Damage Score 0.0608 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.1%
Validation Efficiency 94% (63/67)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 T C 9: 103,950,822 (GRCm39) S49P probably damaging Het
Afm T C 5: 90,674,238 (GRCm39) I250T possibly damaging Het
Alox5 G A 6: 116,400,106 (GRCm39) Q278* probably null Het
Anxa7 G A 14: 20,512,775 (GRCm39) R253C probably damaging Het
Arfgef1 T A 1: 10,243,164 (GRCm39) T1059S probably damaging Het
Arpp21 T C 9: 112,008,197 (GRCm39) E101G probably damaging Het
Bcr A T 10: 74,897,338 (GRCm39) I161F possibly damaging Het
Ccdc141 T C 2: 76,845,140 (GRCm39) E1309G probably damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cep41 C T 6: 30,657,356 (GRCm39) S233N probably damaging Het
Col5a1 T G 2: 27,812,076 (GRCm39) S53A unknown Het
Cplane1 C T 15: 8,276,422 (GRCm39) Q2689* probably null Het
Efnb2 A G 8: 8,672,329 (GRCm39) probably null Het
Epb41l5 T C 1: 119,477,606 (GRCm39) probably benign Het
Eri2 A G 7: 119,390,397 (GRCm39) F77S probably damaging Het
Ern1 C T 11: 106,312,806 (GRCm39) probably benign Het
Eya3 T C 4: 132,434,440 (GRCm39) probably benign Het
Icos T C 1: 61,033,802 (GRCm39) L144P probably damaging Het
Ipo8 A G 6: 148,690,591 (GRCm39) V717A probably benign Het
Lrp12 T C 15: 39,742,019 (GRCm39) E232G probably damaging Het
Lrp1b A G 2: 40,888,228 (GRCm39) I2344T probably damaging Het
Mettl5 A T 2: 69,701,633 (GRCm39) F207I possibly damaging Het
Mtor G T 4: 148,575,871 (GRCm39) E1342* probably null Het
Nrap A G 19: 56,315,725 (GRCm39) Y1360H possibly damaging Het
Nsun7 T C 5: 66,418,423 (GRCm39) V51A probably damaging Het
Or5an11 C A 19: 12,246,258 (GRCm39) F221L probably benign Het
Or5p5 T C 7: 107,414,469 (GRCm39) L228P probably damaging Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Or8k27 T C 2: 86,275,664 (GRCm39) I221V probably benign Het
Or9m1b T A 2: 87,836,915 (GRCm39) Y60F probably damaging Het
Otud6b A C 4: 14,818,473 (GRCm39) L143V probably damaging Het
Pabir2 T C X: 52,335,023 (GRCm39) *256W probably null Het
Pp2d1 T C 17: 53,822,835 (GRCm39) N77S probably benign Het
Ppp4r3c2 A T X: 88,797,283 (GRCm39) M372L probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Raly G T 2: 154,699,273 (GRCm39) G26* probably null Het
Rarb T C 14: 16,435,177 (GRCm38) M290V possibly damaging Het
Scap T C 9: 110,213,841 (GRCm39) V1268A probably damaging Het
Setd1b C T 5: 123,298,748 (GRCm39) probably benign Het
Shisa3 C G 5: 67,768,777 (GRCm39) P226A probably benign Het
Smox C T 2: 131,364,051 (GRCm39) S481F probably damaging Het
Stard9 T C 2: 120,531,453 (GRCm39) V2570A probably benign Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Sult4a1 C T 15: 83,970,847 (GRCm39) R186Q probably benign Het
Taf2 G T 15: 54,901,806 (GRCm39) A796E possibly damaging Het
Taf4b T C 18: 14,954,484 (GRCm39) probably benign Het
Thbs4 G T 13: 92,898,041 (GRCm39) Q593K probably benign Het
Tigd3 T C 19: 5,941,753 (GRCm39) D459G probably benign Het
Tmem168 A T 6: 13,591,400 (GRCm39) L472Q probably damaging Het
Tmem169 G T 1: 72,339,875 (GRCm39) V102F probably damaging Het
Tmem241 T C 18: 12,126,631 (GRCm39) T274A probably benign Het
Trip10 A G 17: 57,557,800 (GRCm39) Y28C probably damaging Het
Ubp1 T C 9: 113,799,239 (GRCm39) V398A probably benign Het
Ubr3 A G 2: 69,775,415 (GRCm39) Y567C probably damaging Het
Uckl1 A T 2: 181,211,362 (GRCm39) M489K possibly damaging Het
Ush2a C T 1: 188,169,080 (GRCm39) P1074S probably damaging Het
Vmn1r62 T C 7: 5,678,904 (GRCm39) V195A probably damaging Het
Vmn2r63 T A 7: 42,577,339 (GRCm39) I400L probably benign Het
Vmn2r67 T A 7: 84,800,824 (GRCm39) I371F probably benign Het
Wdr64 A G 1: 175,633,568 (GRCm39) T940A probably benign Het
Zfp105 A T 9: 122,759,742 (GRCm39) Y471F probably damaging Het
Zfp287 A T 11: 62,605,166 (GRCm39) H580Q probably 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
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
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'- AAGCCCTTTCCACAGCAGGATG -3'
(R):5'- CCTTGAGCAGTAGAGATAACCAGCG -3'

Sequencing Primer
(F):5'- GCCATCTGTGTGAAAGTCTGAAAC -3'
(R):5'- AGATAACCAGCGGGGCG -3'
Posted On 2014-03-14