Incidental Mutation 'R8052:Rusc2'
ID 619095
Institutional Source Beutler Lab
Gene Symbol Rusc2
Ensembl Gene ENSMUSG00000035969
Gene Name RUN and SH3 domain containing 2
Synonyms
MMRRC Submission 067489-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R8052 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 43381979-43427088 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43421851 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 757 (F757S)
Ref Sequence ENSEMBL: ENSMUSP00000038379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035645] [ENSMUST00000098106] [ENSMUST00000131668] [ENSMUST00000149221] [ENSMUST00000173682]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035645
AA Change: F757S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: F757S

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: F757S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: F757S

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: ENSMUST00000131668
AA Change: F757S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: F757S

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: ENSMUST00000149221
Predicted Effect probably benign
Transcript: ENSMUST00000173682
AA Change: S652P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: S652P

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik TCC TCCGCC 6: 96,165,097 (GRCm38) probably benign Het
1700123L14Rik TCC TCCCCC 6: 96,165,103 (GRCm38) probably benign Het
2010111I01Rik G A 13: 63,068,251 (GRCm38) V446I probably damaging Het
Abi1 T C 2: 22,953,543 (GRCm38) T297A probably benign Het
Acadl G T 1: 66,853,178 (GRCm38) T162K probably benign Het
Aldoart2 A T 12: 55,565,751 (GRCm38) I154F probably damaging Het
Alkbh8 G A 9: 3,385,478 (GRCm38) R625H probably damaging Het
Ankrd31 T A 13: 96,832,528 (GRCm38) V891E probably benign Het
Atp8b5 C T 4: 43,356,982 (GRCm38) R577* probably null Het
Capn3 G T 2: 120,486,386 (GRCm38) E285D probably benign Het
Cd79b G T 11: 106,313,700 (GRCm38) P87T probably damaging Het
Celsr2 T G 3: 108,412,655 (GRCm38) D947A probably damaging Het
Csmd3 A C 15: 47,706,387 (GRCm38) S1213R Het
Cyp2j5 T C 4: 96,664,004 (GRCm38) M3V probably benign Het
Ddi1 C T 9: 6,265,787 (GRCm38) R194K probably benign Het
Decr1 T C 4: 15,933,019 (GRCm38) K49R probably benign Het
Dnah10 A C 5: 124,828,511 (GRCm38) E4130A probably benign Het
Dst A G 1: 34,284,363 (GRCm38) D4648G probably damaging Het
Ecd A G 14: 20,329,952 (GRCm38) probably null Het
Erbin A T 13: 103,834,356 (GRCm38) Y917* probably null Het
Evpl T C 11: 116,223,163 (GRCm38) K1234E probably benign Het
F11r T A 1: 171,461,623 (GRCm38) Y218N possibly damaging Het
Fam43a C G 16: 30,601,804 (GRCm38) T402S probably benign Het
Frem2 T C 3: 53,549,643 (GRCm38) N2096S probably benign Het
Gm7697 A T 8: 69,522,752 (GRCm38) Y21N possibly damaging Het
Gpd2 T A 2: 57,306,950 (GRCm38) Y172* probably null Het
Hscb A G 5: 110,835,978 (GRCm38) V90A probably benign Het
Iqgap2 T C 13: 95,657,879 (GRCm38) D1195G probably damaging Het
Map2k2 T C 10: 81,115,066 (GRCm38) I115T probably damaging Het
Mast2 C T 4: 116,312,975 (GRCm38) R707H probably damaging Het
Mindy4 A G 6: 55,300,992 (GRCm38) N607S probably damaging Het
Mrpl9 T A 3: 94,443,743 (GRCm38) Y77N probably damaging Het
Muc16 G A 9: 18,659,051 (GRCm38) T724I unknown Het
Nat3 A T 8: 67,547,826 (GRCm38) Y119F possibly damaging Het
Nol7 T C 13: 43,401,514 (GRCm38) S208P probably damaging Het
Notch3 A T 17: 32,146,571 (GRCm38) C1056S probably damaging Het
Olfr1039 A T 2: 86,131,377 (GRCm38) Y95* probably null Het
Olfr146 G T 9: 39,019,487 (GRCm38) T18K probably damaging Het
Olfr399 T A 11: 74,054,475 (GRCm38) I95F probably benign Het
Olfr71 A T 4: 43,705,884 (GRCm38) V228E probably damaging Het
Osbpl3 A C 6: 50,346,015 (GRCm38) L288R probably damaging Het
Oscp1 A C 4: 126,088,323 (GRCm38) D352A possibly damaging Het
Pcdh9 G A 14: 93,885,786 (GRCm38) R983C probably benign Het
Pcdhgb8 T C 18: 37,763,502 (GRCm38) S542P probably benign Het
Pi4ka T C 16: 17,356,166 (GRCm38) T490A Het
Pkd1l1 A T 11: 8,947,315 (GRCm38) D531E Het
Prr3 G T 17: 35,979,161 (GRCm38) D26E possibly damaging Het
Psmd8 T C 7: 29,180,576 (GRCm38) K24E probably benign Het
Rasgrp4 G A 7: 29,149,937 (GRCm38) C583Y probably damaging Het
Rest A G 5: 77,268,324 (GRCm38) I128M probably benign Het
Rftn1 A T 17: 50,086,579 (GRCm38) F144I probably damaging Het
Ryr1 A G 7: 29,083,385 (GRCm38) S1942P probably benign Het
Sdk2 C T 11: 113,854,351 (GRCm38) R706Q probably damaging Het
Sergef G T 7: 46,614,638 (GRCm38) T275K probably damaging Het
Serpina10 T C 12: 103,628,310 (GRCm38) T217A probably damaging Het
Shd G C 17: 55,976,235 (GRCm38) S288T probably damaging Het
Siglec15 C A 18: 78,048,588 (GRCm38) A133S possibly damaging Het
Stat4 C T 1: 52,079,773 (GRCm38) P325L probably damaging Het
Syt8 G A 7: 142,440,144 (GRCm38) G344D probably damaging Het
Tes A G 6: 17,097,292 (GRCm38) E133G probably benign Het
Tmprss2 T C 16: 97,568,416 (GRCm38) Y386C probably damaging Het
Tnfrsf11b A T 15: 54,252,106 (GRCm38) L365Q probably damaging Het
Tns1 T A 1: 73,953,437 (GRCm38) D67V probably damaging Het
Tns2 T C 15: 102,112,845 (GRCm38) S982P probably damaging Het
Tpcn2 A T 7: 145,260,946 (GRCm38) F473I probably benign Het
Tsg101 A T 7: 46,892,509 (GRCm38) I232N probably damaging Het
Ttc3 T C 16: 94,467,989 (GRCm38) S1977P probably benign Het
Ttll11 T A 2: 35,979,515 (GRCm38) E37V unknown Het
Ttn A T 2: 76,818,816 (GRCm38) V12716E possibly damaging Het
Vmn2r70 A C 7: 85,563,715 (GRCm38) S495A probably benign Het
Zfp974 A G 7: 27,911,272 (GRCm38) C343R probably damaging Het
Zfy1 A T Y: 726,004 (GRCm38) I587N 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
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'- TTCGCTACAGCAAGGAACAGAG -3'
(R):5'- ATACACTGTCGGCTGCTGTG -3'

Sequencing Primer
(F):5'- TACCGATCCAGCCGTTCGTG -3'
(R):5'- TGTGCCCTGCTCTGGAG -3'
Posted On 2020-01-23