Incidental Mutation 'R9483:Rusc2'
ID 716350
Institutional Source Beutler Lab
Gene Symbol Rusc2
Ensembl Gene ENSMUSG00000035969
Gene Name RUN and SH3 domain containing 2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R9483 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 43381979-43427088 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43415897 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 401 (N401S)
Ref Sequence ENSEMBL: ENSMUSP00000038379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000098106] [ENSMUST00000125399] [ENSMUST00000131668] [ENSMUST00000135216] [ENSMUST00000136360] [ENSMUST00000139198] [ENSMUST00000144911] [ENSMUST00000149221] [ENSMUST00000152322] [ENSMUST00000173682]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035645
AA Change: N401S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: N401S

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: N401S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: N401S

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: ENSMUST00000125399
Predicted Effect probably damaging
Transcript: ENSMUST00000131668
AA Change: N401S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: N401S

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 probably benign
Transcript: ENSMUST00000149221
Predicted Effect probably benign
Transcript: ENSMUST00000152322
Predicted Effect probably damaging
Transcript: ENSMUST00000173682
AA Change: N401S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: N401S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T G 1: 37,631,415 (GRCm38) E148A probably damaging Het
2900026A02Rik A T 5: 113,191,144 (GRCm38) M334K probably benign Het
Abca1 A T 4: 53,060,351 (GRCm38) I1525N probably benign Het
Abca4 A T 3: 122,085,626 (GRCm38) I398F Het
Acbd3 A G 1: 180,745,156 (GRCm38) D327G probably benign Het
Acsm3 A G 7: 119,783,943 (GRCm38) T544A probably damaging Het
Atp11a C T 8: 12,851,087 (GRCm38) T972M probably damaging Het
Cbfb C T 8: 105,202,491 (GRCm38) R147* probably null Het
Ccdc17 G T 4: 116,596,947 (GRCm38) R54L probably benign Het
Cuedc2 G T 19: 46,330,960 (GRCm38) A223E probably benign Het
Cul5 T C 9: 53,621,174 (GRCm38) I787V probably benign Het
D430041D05Rik T A 2: 104,257,218 (GRCm38) H471L probably benign Het
Ddx39 T C 8: 83,722,287 (GRCm38) Y264H probably benign Het
Dlgap3 C A 4: 127,233,872 (GRCm38) R778S probably damaging Het
Esrrg T C 1: 188,198,651 (GRCm38) V313A probably damaging Het
Fam124a T C 14: 62,606,651 (GRCm38) I536T probably damaging Het
Fbxo21 T C 5: 117,989,207 (GRCm38) F275L possibly damaging Het
Gabrg1 C A 5: 70,842,215 (GRCm38) G2V possibly damaging Het
Gcc1 G T 6: 28,418,090 (GRCm38) A748D probably damaging Het
Gjb6 T C 14: 57,124,054 (GRCm38) D250G probably benign Het
Gm44501 A T 17: 40,578,981 (GRCm38) K129* probably null Het
Hmcn2 T G 2: 31,430,363 (GRCm38) L3952R Het
Hpd A G 5: 123,174,472 (GRCm38) I278T probably damaging Het
Igsf3 T C 3: 101,439,501 (GRCm38) F584S probably damaging Het
Igsf3 T A 3: 101,439,588 (GRCm38) F613Y probably damaging Het
Ik A G 18: 36,753,582 (GRCm38) D369G probably benign Het
Ikbke A G 1: 131,270,982 (GRCm38) L365P probably damaging Het
Il22ra2 A T 10: 19,632,794 (GRCm38) Q190L possibly damaging Het
Itga6 T C 2: 71,849,490 (GRCm38) V1033A probably benign Het
Kif18a T C 2: 109,289,687 (GRCm38) Y112H probably damaging Het
Krt75 T C 15: 101,573,803 (GRCm38) H10R probably benign Het
L3mbtl1 T A 2: 162,948,814 (GRCm38) L93H probably benign Het
Lrfn1 G A 7: 28,458,758 (GRCm38) C34Y probably damaging Het
Lrrc47 A T 4: 154,017,463 (GRCm38) I396F probably damaging Het
Mgat3 T A 15: 80,211,440 (GRCm38) V156E probably benign Het
Mtus2 A G 5: 148,295,490 (GRCm38) D1120G possibly damaging Het
Muc5ac G T 7: 141,811,728 (GRCm38) E2700* probably null Het
Nxpe5 A T 5: 138,230,329 (GRCm38) probably benign Het
Olfr1109 A T 2: 87,093,046 (GRCm38) M117K possibly damaging Het
Olfr621-ps1 T C 7: 103,629,724 (GRCm38) T79A probably damaging Het
Pcdhga4 T A 18: 37,686,693 (GRCm38) S432T possibly damaging Het
Pdk4 T A 6: 5,486,716 (GRCm38) M353L probably benign Het
Ppp1r13b T A 12: 111,833,776 (GRCm38) K645N probably benign Het
Ppt1 A T 4: 122,857,574 (GRCm38) D288V possibly damaging Het
Prkcb A G 7: 122,582,440 (GRCm38) Y417C probably damaging Het
Prss22 A G 17: 23,996,747 (GRCm38) I67T probably damaging Het
Rab29 T C 1: 131,867,770 (GRCm38) V40A possibly damaging Het
Rae1 T C 2: 173,008,148 (GRCm38) probably null Het
Rasa3 C T 8: 13,580,033 (GRCm38) probably null Het
Rasgrp3 A G 17: 75,500,722 (GRCm38) D258G probably benign Het
Rcc1 T A 4: 132,335,497 (GRCm38) T208S probably benign Het
Rgs3 C A 4: 62,657,117 (GRCm38) Y580* probably null Het
Rpe65 C T 3: 159,622,681 (GRCm38) P405S probably damaging Het
Rsf1 GGCGGC GGCGGCGGCAGCGGC 7: 97,579,930 (GRCm38) probably benign Het
Rsph4a A G 10: 33,914,422 (GRCm38) E669G probably damaging Het
Rusc1 A T 3: 89,086,806 (GRCm38) V964E probably benign Het
Slc10a1 G T 12: 80,956,090 (GRCm38) T258K probably damaging Het
Slc5a9 A G 4: 111,890,221 (GRCm38) L323P probably damaging Het
Slc6a17 T A 3: 107,471,456 (GRCm38) I637F possibly damaging Het
Slc8a2 A G 7: 16,152,855 (GRCm38) E641G possibly damaging Het
Sptbn2 G T 19: 4,739,946 (GRCm38) A1321S probably damaging Het
Ssh2 G T 11: 77,393,150 (GRCm38) A77S possibly damaging Het
St13 G T 15: 81,366,386 (GRCm38) N316K probably damaging Het
Taf10 A G 7: 105,743,855 (GRCm38) M121T probably benign Het
Tcta T C 9: 108,305,743 (GRCm38) T68A probably damaging Het
Timd2 A T 11: 46,687,062 (GRCm38) Y81N probably damaging Het
Tln2 T C 9: 67,392,487 (GRCm38) E161G probably damaging Het
Tmed10 T C 12: 85,350,847 (GRCm38) I123V probably benign Het
Ttf1 T C 2: 29,079,480 (GRCm38) probably null Het
Tubg1 A G 11: 101,126,060 (GRCm38) D396G probably damaging Het
Uhmk1 A G 1: 170,207,344 (GRCm38) probably null Het
Unc13a C T 8: 71,650,577 (GRCm38) A922T probably benign Het
Usp24 T A 4: 106,362,182 (GRCm38) V525E probably damaging Het
Usp28 C A 9: 49,035,737 (GRCm38) Q823K probably damaging Het
Vldlr A T 19: 27,246,631 (GRCm38) I764F probably benign Het
Vmn2r88 T C 14: 51,411,184 (GRCm38) Y62H Het
Zfp423 T A 8: 87,781,097 (GRCm38) N873I possibly 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
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
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'- AGCGACTCTTCCTTCTGCAG -3'
(R):5'- TGGCTTCTGGAAGAGGTAATAC -3'

Sequencing Primer
(F):5'- AGAATGTCTTGCGAGTCCCAC -3'
(R):5'- CTTCTGGAAGAGGTAATACTCAGAG -3'
Posted On 2022-07-18