Incidental Mutation 'R7698:Rusc2'
ID 593766
Institutional Source Beutler Lab
Gene Symbol Rusc2
Ensembl Gene ENSMUSG00000035969
Gene Name RUN and SH3 domain containing 2
Synonyms
MMRRC Submission 045759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.207) question?
Stock # R7698 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 43381979-43427088 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 43414900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 69 (Q69*)
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 null
Transcript: ENSMUST00000035645
AA Change: Q69*
SMART Domains Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: Q69*

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 null
Transcript: ENSMUST00000098106
AA Change: Q69*
SMART Domains Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: Q69*

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 null
Transcript: ENSMUST00000131668
AA Change: Q69*
SMART Domains Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: Q69*

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 null
Transcript: ENSMUST00000139198
AA Change: Q69*
SMART Domains Protein: ENSMUSP00000121528
Gene: ENSMUSG00000035969
AA Change: Q69*

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 null
Transcript: ENSMUST00000173682
AA Change: Q69*
SMART Domains Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: Q69*

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: 99.7%
  • 20x: 99.2%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik C A 14: 33,774,570 (GRCm39) L140F unknown Het
Actn1 T C 12: 80,221,311 (GRCm39) T581A probably benign Het
Ak9 T C 10: 41,224,072 (GRCm39) L495S Het
Aldh5a1 T C 13: 25,095,731 (GRCm39) D462G probably damaging Het
Amz2 A G 11: 109,319,833 (GRCm39) D73G probably damaging Het
Ank2 A G 3: 126,825,860 (GRCm39) Y361H probably benign Het
Atp8b1 A G 18: 64,704,093 (GRCm39) Y342H probably benign Het
Atp8b5 C T 4: 43,366,735 (GRCm39) T833I probably benign Het
Camkk2 A G 5: 122,884,482 (GRCm39) I313T probably damaging Het
Cdk18 T C 1: 132,050,116 (GRCm39) T20A probably damaging Het
Cenpf A T 1: 189,394,269 (GRCm39) C479S probably benign Het
Cfap221 C A 1: 119,889,659 (GRCm39) E192* probably null Het
Cfap44 C T 16: 44,254,149 (GRCm39) H958Y probably damaging Het
Cic A T 7: 24,972,597 (GRCm39) Q776L possibly damaging Het
Cldn17 C A 16: 88,303,244 (GRCm39) G162* probably null Het
Col19a1 T A 1: 24,351,159 (GRCm39) Y748F probably benign Het
Col27a1 C T 4: 63,143,955 (GRCm39) P548S possibly damaging Het
Cracdl T G 1: 37,664,452 (GRCm39) E482A probably benign Het
Ctsr T A 13: 61,310,381 (GRCm39) M92L probably benign Het
Cyp2d12 T C 15: 82,443,171 (GRCm39) V360A probably benign Het
Defa34 G T 8: 22,156,645 (GRCm39) C91F probably damaging Het
Dennd2c G A 3: 103,072,359 (GRCm39) V815I possibly damaging Het
Dlgap4 C T 2: 156,591,015 (GRCm39) Q734* probably null Het
Dph1 A T 11: 75,081,267 (GRCm39) S7T probably benign Het
Dpp8 T C 9: 64,949,618 (GRCm39) V121A probably benign Het
Dst G A 1: 34,229,468 (GRCm39) G2354S probably benign Het
Duox2 A T 2: 122,111,245 (GRCm39) L1453Q probably damaging Het
Ecpas C G 4: 58,832,660 (GRCm39) C900S unknown Het
Exosc10 T A 4: 148,642,955 (GRCm39) S11T probably benign Het
Fetub A G 16: 22,758,059 (GRCm39) T281A probably benign Het
Flii A T 11: 60,610,918 (GRCm39) W504R probably damaging Het
Gm5093 T C 17: 46,750,866 (GRCm39) R54G possibly damaging Het
Gmcl1 T C 6: 86,684,397 (GRCm39) D375G probably benign Het
Hikeshi A T 7: 89,572,889 (GRCm39) N101K probably benign Het
Hmcn2 T C 2: 31,313,165 (GRCm39) V3458A probably damaging Het
Hspa2 A G 12: 76,452,083 (GRCm39) N259S possibly damaging Het
Irf6 T C 1: 192,844,075 (GRCm39) I110T probably damaging Het
Kcnj8 T A 6: 142,511,479 (GRCm39) H376L probably damaging Het
Kdm6b G A 11: 69,296,807 (GRCm39) P487S probably benign Het
Lcp1 C A 14: 75,443,651 (GRCm39) Y222* probably null Het
Manea T C 4: 26,327,763 (GRCm39) D426G probably damaging Het
Map3k20 G T 2: 72,195,025 (GRCm39) E101* probably null Het
Map3k20 C G 2: 72,268,658 (GRCm39) S555C probably benign Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myo6 C T 9: 80,124,938 (GRCm39) P6S unknown Het
Myoc A T 1: 162,467,014 (GRCm39) Q61L probably damaging Het
N4bp2 T A 5: 65,965,500 (GRCm39) M1183K probably benign Het
Or52e7 T A 7: 104,685,114 (GRCm39) H236Q probably benign Het
Or5b114-ps1 T C 19: 13,352,404 (GRCm39) F26S probably damaging Het
Or5b21 T C 19: 12,840,077 (GRCm39) S313P possibly damaging Het
Or8b40 T A 9: 38,027,188 (GRCm39) L37* probably null Het
Osbpl11 C G 16: 33,054,817 (GRCm39) N633K probably benign Het
Pate7 T C 9: 35,688,472 (GRCm39) M38V probably benign Het
Pcdhgb5 A G 18: 37,865,684 (GRCm39) E493G probably damaging Het
Phf20 T A 2: 156,136,058 (GRCm39) W626R probably damaging Het
Pkp2 C A 16: 16,058,523 (GRCm39) Q402K probably benign Het
Plch2 C T 4: 155,087,244 (GRCm39) D336N possibly damaging Het
Plk1 T C 7: 121,768,481 (GRCm39) F535L probably damaging Het
Ppp1r9a A T 6: 4,906,430 (GRCm39) E328D probably benign Het
Prss44 G A 9: 110,646,379 (GRCm39) V369M probably benign Het
Rilp A G 11: 75,401,798 (GRCm39) S193G probably benign Het
Ryr2 T C 13: 11,776,201 (GRCm39) D1112G possibly damaging Het
Smc6 A G 12: 11,333,141 (GRCm39) R238G possibly damaging Het
Spen A G 4: 141,200,156 (GRCm39) S2824P probably damaging Het
Stk4 T C 2: 163,925,663 (GRCm39) M77T probably damaging Het
Syne2 A T 12: 75,995,838 (GRCm39) H2126L probably damaging Het
Thsd1 C T 8: 22,749,003 (GRCm39) R625* probably null Het
Tle3 A T 9: 61,320,138 (GRCm39) N522I probably damaging Het
Tmcc1 C A 6: 116,020,763 (GRCm39) E230* probably null Het
Vmn2r90 T C 17: 17,953,596 (GRCm39) S587P probably benign Het
Wt1 A T 2: 104,957,161 (GRCm39) Q7L probably benign Het
Zfhx2 T C 14: 55,300,306 (GRCm39) I2482V probably benign Het
Zfpm2 A T 15: 40,959,487 (GRCm39) I189F 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
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'- CTGTTGATGCCCTTGTTGGAAC -3'
(R):5'- TCACCAGTGCTGCTGTCATG -3'

Sequencing Primer
(F):5'- TCCAGAATGGATAGCCCCC -3'
(R):5'- TGCTGTCATGCAGGTCAC -3'
Posted On 2019-11-12