Incidental Mutation 'R2010:Rusc2'
ID 219443
Institutional Source Beutler Lab
Gene Symbol Rusc2
Ensembl Gene ENSMUSG00000035969
Gene Name RUN and SH3 domain containing 2
Synonyms
MMRRC Submission 040019-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R2010 (G1)
Quality Score 160
Status Not validated
Chromosome 4
Chromosomal Location 43381979-43427088 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43415212 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 173 (P173S)
Ref Sequence ENSEMBL: ENSMUSP00000095710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000098106] [ENSMUST00000125399] [ENSMUST00000131668] [ENSMUST00000135216] [ENSMUST00000136360] [ENSMUST00000139198] [ENSMUST00000144911] [ENSMUST00000173682] [ENSMUST00000152322] [ENSMUST00000149221]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035645
AA Change: P173S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: P173S

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: ENSMUST00000098106
AA Change: P173S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: P173S

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 benign
Transcript: ENSMUST00000131668
AA Change: P173S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: P173S

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 benign
Transcript: ENSMUST00000173682
AA Change: P173S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: P173S

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: ENSMUST00000152322
Predicted Effect probably benign
Transcript: ENSMUST00000149221
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik G A 3: 36,481,806 (GRCm38) G74S unknown Het
4930452B06Rik A T 14: 8,511,021 (GRCm38) F464L probably damaging Het
4932438A13Rik T G 3: 36,928,551 (GRCm38) N788K probably benign Het
Aimp1 A T 3: 132,667,492 (GRCm38) L229Q probably benign Het
Arhgef6 T C X: 57,299,505 (GRCm38) T52A possibly damaging Het
Aste1 C A 9: 105,403,502 (GRCm38) H25Q probably damaging Het
Atp13a1 G A 8: 69,791,360 (GRCm38) G36R possibly damaging Het
Bahcc1 T C 11: 120,272,778 (GRCm38) V634A probably damaging Het
C1s1 A T 6: 124,537,394 (GRCm38) Y168N probably damaging Het
Camsap2 T C 1: 136,274,868 (GRCm38) S612G probably damaging Het
Cdh23 C A 10: 60,314,227 (GRCm38) R2611L probably damaging Het
Cilp2 A G 8: 69,881,694 (GRCm38) Y885H probably damaging Het
D430042O09Rik A G 7: 125,872,956 (GRCm38) I1544M possibly damaging Het
Dhrs3 C T 4: 144,927,188 (GRCm38) T227I possibly damaging Het
Dnah2 A T 11: 69,458,358 (GRCm38) probably null Het
Dnah3 T G 7: 120,095,177 (GRCm38) M1L probably benign Het
Ehbp1l1 A G 19: 5,719,283 (GRCm38) I664T probably benign Het
Eif4e C T 3: 138,555,458 (GRCm38) T171I probably benign Het
Elfn1 C T 5: 139,973,316 (GRCm38) R692W probably damaging Het
Eps8l3 T A 3: 107,879,372 (GRCm38) M1K probably null Het
Evi5 C A 5: 107,813,545 (GRCm38) probably null Het
Fancd2 A T 6: 113,593,291 (GRCm38) D1401V probably damaging Het
Fat2 G A 11: 55,253,827 (GRCm38) R4074C probably damaging Het
Fkbp4 A T 6: 128,435,802 (GRCm38) V55E probably benign Het
Fnip1 A G 11: 54,482,503 (GRCm38) D180G probably damaging Het
Galc A G 12: 98,254,230 (GRCm38) F126S possibly damaging Het
Gdf7 C T 12: 8,301,729 (GRCm38) V69M unknown Het
Glis2 A G 16: 4,608,711 (GRCm38) E22G probably damaging Het
Hist1h2bb G A 13: 23,747,128 (GRCm38) V112M possibly damaging Het
Hps4 T A 5: 112,369,476 (GRCm38) V243E probably damaging Het
Ighe T A 12: 113,271,488 (GRCm38) I351F unknown Het
Irak4 A T 15: 94,551,806 (GRCm38) R55S probably damaging Het
Itpr2 G A 6: 146,227,524 (GRCm38) probably null Het
Kirrel3 T C 9: 34,939,198 (GRCm38) Y41H probably damaging Het
Krr1 A G 10: 111,975,569 (GRCm38) E56G possibly damaging Het
Lgi1 G A 19: 38,301,235 (GRCm38) V250I probably damaging Het
Lipf A G 19: 33,973,546 (GRCm38) N306D probably benign Het
Lman2l C T 1: 36,445,181 (GRCm38) W18* probably null Het
Lztfl1 T A 9: 123,702,186 (GRCm38) N239I possibly damaging Het
Mief1 T C 15: 80,247,925 (GRCm38) S66P possibly damaging Het
Mmp8 C A 9: 7,567,534 (GRCm38) S465* probably null Het
Muc2 A T 7: 141,700,875 (GRCm38) T208S probably damaging Het
Myh8 A T 11: 67,297,164 (GRCm38) K921* probably null Het
Myh9 T C 15: 77,771,947 (GRCm38) E1121G probably benign Het
Nbn T C 4: 15,969,393 (GRCm38) S213P probably damaging Het
Nol10 A G 12: 17,416,101 (GRCm38) E499G probably benign Het
Nxn T C 11: 76,398,801 (GRCm38) E87G probably damaging Het
Olfr293 A G 7: 86,664,603 (GRCm38) T314A probably benign Het
Olfr568 T A 7: 102,877,685 (GRCm38) C188* probably null Het
Olfr937 T C 9: 39,060,099 (GRCm38) H189R probably benign Het
Pds5b CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 5: 150,775,354 (GRCm38) probably benign Het
Pigk A G 3: 152,766,514 (GRCm38) I354M probably damaging Het
Pigl T A 11: 62,458,682 (GRCm38) C75S probably damaging Het
Pm20d1 T A 1: 131,812,114 (GRCm38) I400N probably benign Het
Prkg2 T A 5: 99,024,805 (GRCm38) H17L probably benign Het
Psmd1 T A 1: 86,075,997 (GRCm38) L168Q probably damaging Het
Rab3gap2 A T 1: 185,278,281 (GRCm38) H1136L possibly damaging Het
Rb1 T C 14: 73,294,993 (GRCm38) T134A probably benign Het
Rims1 T C 1: 22,296,996 (GRCm38) E1024G probably damaging Het
Rrp12 A G 19: 41,872,937 (GRCm38) V977A probably benign Het
Selenov A T 7: 28,288,022 (GRCm38) D310E probably damaging Het
Serpina3f T A 12: 104,217,323 (GRCm38) L148Q probably damaging Het
Slc10a1 C T 12: 80,960,447 (GRCm38) V187I probably benign Het
Spsb2 A G 6: 124,810,376 (GRCm38) K258E probably damaging Het
Tas2r105 A C 6: 131,687,402 (GRCm38) V21G probably benign Het
Tmem229b-ps T A 10: 53,475,199 (GRCm38) noncoding transcript Het
Tnrc6a C G 7: 123,171,046 (GRCm38) H686Q probably benign Het
Trpc2 T A 7: 102,094,573 (GRCm38) F715L probably benign Het
Ube2t T A 1: 134,969,298 (GRCm38) I56N probably benign Het
Ubr4 T C 4: 139,480,652 (GRCm38) Y4915H possibly damaging Het
Usp32 T A 11: 85,040,004 (GRCm38) E533D probably damaging Het
Vipr2 T G 12: 116,122,810 (GRCm38) probably null Het
Vmn1r15 A G 6: 57,258,284 (GRCm38) T46A probably benign Het
Vmn1r203 T G 13: 22,524,447 (GRCm38) S133A possibly damaging Het
Vmn1r215 T G 13: 23,076,208 (GRCm38) N139K probably damaging Het
Vmn1r232 C T 17: 20,913,339 (GRCm38) R333H probably benign Het
Wdr20rt C A 12: 65,227,214 (GRCm38) H311N possibly damaging Het
Zranb1 T C 7: 132,966,696 (GRCm38) probably null 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
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
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'- ATCCCTTCTTGGTGCAGGAAG -3'
(R):5'- GATTCGTCGGAACTGATCTTCCAC -3'

Sequencing Primer
(F):5'- GGTGTGGGTGAGACAGGACTC -3'
(R):5'- TCTTCCACTCTTGCTCAAAGGAAAAG -3'
Posted On 2014-08-25