Incidental Mutation 'R9666:Rusc2'
ID 735697
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: 0.205) question?
Stock # R9666 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 43381979-43427088 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43416262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 523 (M523L)
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 benign
Transcript: ENSMUST00000035645
AA Change: M523L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: M523L

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: M523L

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: M523L

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: M523L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: M523L

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: M523L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: M523L

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: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 C A 12: 118,838,422 (GRCm39) V1047L probably damaging Het
Akap6 G A 12: 53,188,318 (GRCm39) A1911T probably benign Het
Ank2 T A 3: 126,726,838 (GRCm39) K819* probably null Het
Apc2 A G 10: 80,147,183 (GRCm39) R746G possibly damaging Het
Baz1a A G 12: 54,988,345 (GRCm39) I268T probably benign Het
Bysl A G 17: 47,914,865 (GRCm39) I206T probably benign Het
Ccdc70 A C 8: 22,463,357 (GRCm39) E49A possibly damaging Het
Chd1 A T 17: 15,955,976 (GRCm39) H525L probably damaging Het
Col4a4 T C 1: 82,496,670 (GRCm39) E442G unknown Het
Cpd G A 11: 76,693,133 (GRCm39) P718S probably benign Het
Dip2b T A 15: 100,107,461 (GRCm39) I1391N probably damaging Het
Dpp9 T C 17: 56,501,946 (GRCm39) T541A probably damaging Het
Dst C T 1: 34,218,947 (GRCm39) Q1796* probably null Het
Gm10267 T C 18: 44,291,397 (GRCm39) I25V probably benign Het
Gm32742 C T 9: 51,061,441 (GRCm39) R744Q probably benign Het
Gm37240 T C 3: 84,422,952 (GRCm39) Y139C probably damaging Het
Gm39115 A G 7: 141,689,255 (GRCm39) C173R unknown Het
Grm6 T G 11: 50,750,877 (GRCm39) V680G probably damaging Het
Grxcr2 C T 18: 42,131,956 (GRCm39) D38N probably damaging Het
Iah1 G A 12: 21,366,587 (GRCm39) R52H probably damaging Het
Ift43 A G 12: 86,131,920 (GRCm39) Y36C possibly damaging Het
Igf2r T C 17: 12,945,588 (GRCm39) I334V probably benign Het
Igfn1 T A 1: 135,897,692 (GRCm39) Q958L possibly damaging Het
Il4i1 G A 7: 44,489,263 (GRCm39) A343T possibly damaging Het
Ints1 T C 5: 139,748,217 (GRCm39) I1128V probably benign Het
Irx1 C A 13: 72,111,588 (GRCm39) G7V probably damaging Het
Krr1 A G 10: 111,818,896 (GRCm39) R312G possibly damaging Het
Lmna CAGCACGGTGCGTGAGC CAGC 3: 88,389,857 (GRCm39) probably null Het
Lpin2 A T 17: 71,529,065 (GRCm39) N108Y probably damaging Het
Man2a1 A T 17: 64,943,557 (GRCm39) E204V possibly damaging Het
Megf8 A G 7: 25,030,166 (GRCm39) T434A possibly damaging Het
Minar1 A T 9: 89,484,072 (GRCm39) S442T probably benign Het
Muc16 T C 9: 18,567,285 (GRCm39) T1745A unknown Het
Mycbp2 G T 14: 103,371,474 (GRCm39) P4135T probably damaging Het
Nuggc T C 14: 65,857,045 (GRCm39) V398A possibly damaging Het
Or1e22 A G 11: 73,376,885 (GRCm39) I255T probably damaging Het
Or1e29 A T 11: 73,667,976 (GRCm39) M59K probably damaging Het
Or5w11 C T 2: 87,459,152 (GRCm39) A115V possibly damaging Het
Or6a2 A T 7: 106,600,099 (GRCm39) S323T probably benign Het
Or6e1 G T 14: 54,520,342 (GRCm39) N3K probably damaging Het
Or6f1 A G 7: 85,970,444 (GRCm39) S239P probably damaging Het
Parg A G 14: 31,964,294 (GRCm39) N653S probably damaging Het
Plek A G 11: 16,945,346 (GRCm39) F18L probably benign Het
Pnoc A G 14: 65,639,247 (GRCm39) I206T possibly damaging Het
Ppp4r3a T C 12: 101,049,129 (GRCm39) M1V probably null Het
Pramel21 A G 4: 143,341,699 (GRCm39) T43A probably benign Het
Psg22 T C 7: 18,458,248 (GRCm39) V313A probably benign Het
Ptk2b G T 14: 66,409,546 (GRCm39) P497T probably damaging Het
Rer1 A G 4: 155,160,044 (GRCm39) probably null Het
Rnf130 A G 11: 49,986,618 (GRCm39) T321A probably benign Het
Rnf207 A T 4: 152,397,717 (GRCm39) F346I probably damaging Het
Rraga T A 4: 86,494,574 (GRCm39) I140N possibly damaging Het
Sh3bp1 T A 15: 78,792,622 (GRCm39) V495D probably benign Het
Slc44a5 T C 3: 153,945,926 (GRCm39) L153P probably benign Het
Spag16 T C 1: 70,764,072 (GRCm39) S631P probably damaging Het
Syne1 A C 10: 4,984,937 (GRCm39) L747R probably damaging Het
Tac1 A G 6: 7,555,675 (GRCm39) E21G probably benign Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tln1 T C 4: 43,542,957 (GRCm39) D1344G probably damaging Het
Tnc C T 4: 63,926,045 (GRCm39) E912K probably damaging Het
Trav16d-dv11 A G 14: 53,285,037 (GRCm39) T38A probably benign Het
Trbv15 T A 6: 41,118,364 (GRCm39) L40Q probably damaging Het
Trpa1 T C 1: 14,973,455 (GRCm39) I288V possibly damaging Het
Ttn A T 2: 76,604,941 (GRCm39) I18331N probably damaging Het
Tubgcp2 A T 7: 139,587,836 (GRCm39) I263N probably damaging Het
Ugt8a T C 3: 125,708,957 (GRCm39) H51R probably benign Het
Vmn2r2 T C 3: 64,023,870 (GRCm39) T904A probably benign Het
Zfp575 G A 7: 24,285,323 (GRCm39) T106M probably damaging Het
Zfp617 A G 8: 72,686,539 (GRCm39) T290A probably benign Het
Zfp809 T C 9: 22,149,863 (GRCm39) V120A 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
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
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'- GAGTATTACCTCTTCCAGAAGCC -3'
(R):5'- TGGATGGGCGAGAACTCTTG -3'

Sequencing Primer
(F):5'- TTACCTCTTCCAGAAGCCAGACATC -3'
(R):5'- TCTTGGGAAGAATCTCCAACG -3'
Posted On 2022-11-14