Incidental Mutation 'R3874:Rufy2'
ID 276732
Institutional Source Beutler Lab
Gene Symbol Rufy2
Ensembl Gene ENSMUSG00000020070
Gene Name RUN and FYVE domain-containing 2
Synonyms 2610111M19Rik, LZ-FYVE, ZFYVE13, Denn
MMRRC Submission 040792-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R3874 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62980223-63017210 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62998137 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 294 (L294P)
Ref Sequence ENSEMBL: ENSMUSP00000113429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062600] [ENSMUST00000119567] [ENSMUST00000122231] [ENSMUST00000131718] [ENSMUST00000143594]
AlphaFold Q8R4C2
Predicted Effect probably benign
Transcript: ENSMUST00000062600
SMART Domains Protein: ENSMUSP00000059982
Gene: ENSMUSG00000020070

DomainStartEndE-ValueType
RUN 105 167 3.02e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119567
AA Change: L294P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070
AA Change: L294P

DomainStartEndE-ValueType
RUN 105 167 3.02e-22 SMART
coiled coil region 210 268 N/A INTRINSIC
coiled coil region 326 515 N/A INTRINSIC
FYVE 532 599 6.99e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122231
AA Change: L260P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113754
Gene: ENSMUSG00000020070
AA Change: L260P

DomainStartEndE-ValueType
Pfam:RUN 45 100 6.2e-9 PFAM
low complexity region 110 123 N/A INTRINSIC
coiled coil region 176 234 N/A INTRINSIC
coiled coil region 292 372 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129470
Predicted Effect probably damaging
Transcript: ENSMUST00000131718
AA Change: L294P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121419
Gene: ENSMUSG00000020070
AA Change: L294P

DomainStartEndE-ValueType
RUN 105 167 3.02e-22 SMART
coiled coil region 210 268 N/A INTRINSIC
coiled coil region 326 406 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000143594
AA Change: L294P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070
AA Change: L294P

DomainStartEndE-ValueType
RUN 105 167 3.02e-22 SMART
coiled coil region 210 268 N/A INTRINSIC
coiled coil region 326 406 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143726
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130213A22Rik C A 11: 69,121,475 G26* probably null Het
Abca5 T A 11: 110,310,233 Y447F probably damaging Het
Acox2 A G 14: 8,248,061 I407T probably benign Het
Adam8 T C 7: 139,987,607 N408D probably damaging Het
Adgre1 A T 17: 57,401,925 T39S probably benign Het
Akap12 G A 10: 4,357,590 V1467I probably benign Het
Arid1b T A 17: 5,336,515 probably null Het
Atp2c2 A G 8: 119,735,296 I303V possibly damaging Het
Bpifc C T 10: 85,991,254 V144I probably benign Het
C530008M17Rik A G 5: 76,840,892 D30G probably damaging Het
Camk4 A G 18: 33,158,854 E189G possibly damaging Het
Casz1 A G 4: 148,939,589 probably benign Het
Ccdc134 T C 15: 82,131,442 V41A possibly damaging Het
Chrd A T 16: 20,738,910 T753S probably damaging Het
Cyb561a3 T C 19: 10,585,371 V125A probably benign Het
D630039A03Rik T A 4: 57,910,606 T69S probably benign Het
Dchs1 A G 7: 105,761,635 F1687S probably damaging Het
Dlgap4 T C 2: 156,749,347 S818P probably benign Het
Dnah2 A G 11: 69,429,348 I3965T probably damaging Het
Dnaic2 G T 11: 114,732,955 G15W probably damaging Het
Dsg1c A G 18: 20,277,052 I526V probably benign Het
Far2 G A 6: 148,150,591 E123K probably benign Het
Gli1 A T 10: 127,330,219 V1055E probably damaging Het
Hand2 G T 8: 57,321,976 A24S probably benign Het
Helb T C 10: 120,106,037 I249V probably benign Het
Hspa4l G A 3: 40,772,642 V492M probably damaging Het
Hspg2 T C 4: 137,539,349 I1916T probably damaging Het
Igfals G A 17: 24,881,605 V557I possibly damaging Het
Itpa T G 2: 130,681,010 S176A probably damaging Het
Kcnu1 T A 8: 25,885,317 L353H probably damaging Het
Klhl1 A G 14: 96,518,179 F47L probably benign Het
Klhl13 T C X: 23,285,176 D21G probably benign Het
Krt26 T C 11: 99,334,744 K304E probably damaging Het
Krt9 C T 11: 100,190,849 V285I probably damaging Het
Mansc1 T C 6: 134,610,183 R344G possibly damaging Het
Mier2 G T 10: 79,541,797 P439T possibly damaging Het
Mppe1 T A 18: 67,225,886 probably null Het
Nedd4l G A 18: 65,167,535 A243T probably benign Het
Notch4 T A 17: 34,578,069 C934* probably null Het
Nsmce3 C T 7: 64,872,168 D251N probably damaging Het
Olfr101 T A 17: 37,299,979 T148S probably benign Het
Olfr1156 T A 2: 87,949,530 R234S probably damaging Het
Olfr1310 T C 2: 112,008,323 T288A possibly damaging Het
Olfr139 A G 11: 74,044,699 C192R probably damaging Het
Olfr517 C T 7: 108,869,128 V9M probably damaging Het
Olfr937 A G 9: 39,060,174 I164T probably benign Het
Pdzd7 T C 19: 45,045,628 T6A probably benign Het
Picalm T A 7: 90,189,219 F493Y probably damaging Het
Prl7d1 A G 13: 27,716,668 M1T probably null Het
Prl8a1 T C 13: 27,575,458 K199E possibly damaging Het
Rims1 C T 1: 22,428,489 R764H probably damaging Het
Rnf17 G T 14: 56,475,413 R779L possibly damaging Het
Sgsh A G 11: 119,350,947 L111P probably damaging Het
Slc22a30 G T 19: 8,336,849 T491K probably benign Het
Slc35b3 T C 13: 38,943,068 N20D possibly damaging Het
Slc5a4a T C 10: 76,181,655 F429L probably benign Het
Sulf1 T C 1: 12,817,412 I270T probably damaging Het
Tmem51 T C 4: 142,031,748 T230A probably damaging Het
Tnc T A 4: 64,008,710 I860F probably damaging Het
Trh A T 6: 92,243,698 V61E possibly damaging Het
Ttn T G 2: 76,754,099 T22222P probably damaging Het
Uroc1 A T 6: 90,361,512 K652* probably null Het
Usp34 C T 11: 23,489,033 P3532S possibly damaging Het
Vmn2r120 A T 17: 57,524,954 F278L probably benign Het
Vmn2r7 A G 3: 64,719,611 F86L possibly damaging Het
Vmn2r87 A T 10: 130,479,987 I70K possibly damaging Het
Vps13a C T 19: 16,744,953 A332T probably benign Het
Zfp568 T A 7: 30,023,396 C589S probably damaging Het
Other mutations in Rufy2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Rufy2 APN 10 62991054 missense probably damaging 0.98
IGL01516:Rufy2 APN 10 63011433 missense possibly damaging 0.82
IGL02811:Rufy2 APN 10 63000327 missense probably damaging 1.00
IGL03244:Rufy2 APN 10 63004704 missense probably benign 0.08
PIT4434001:Rufy2 UTSW 10 62991066 missense possibly damaging 0.60
R0071:Rufy2 UTSW 10 62989167 missense possibly damaging 0.95
R0448:Rufy2 UTSW 10 63004736 missense probably benign
R0496:Rufy2 UTSW 10 62993170 missense probably damaging 1.00
R0723:Rufy2 UTSW 10 62998094 missense probably benign 0.43
R0731:Rufy2 UTSW 10 63011844 critical splice donor site probably benign
R1236:Rufy2 UTSW 10 62994770 missense probably benign 0.36
R1414:Rufy2 UTSW 10 63002199 nonsense probably null
R1600:Rufy2 UTSW 10 63006671 missense probably benign 0.00
R1626:Rufy2 UTSW 10 62995372 missense probably benign 0.43
R2035:Rufy2 UTSW 10 63006747 missense probably damaging 0.99
R2141:Rufy2 UTSW 10 62990994 missense probably damaging 1.00
R2962:Rufy2 UTSW 10 63000260 missense probably damaging 0.96
R4206:Rufy2 UTSW 10 63004772 nonsense probably null
R4321:Rufy2 UTSW 10 62982680 missense probably damaging 1.00
R4878:Rufy2 UTSW 10 63002211 missense probably damaging 1.00
R5636:Rufy2 UTSW 10 62997954 missense probably damaging 1.00
R7382:Rufy2 UTSW 10 62997969 missense probably benign 0.04
R7714:Rufy2 UTSW 10 63002993 missense probably benign 0.01
R8278:Rufy2 UTSW 10 63007693 missense probably benign 0.27
R8777:Rufy2 UTSW 10 62997881 missense possibly damaging 0.86
R8777-TAIL:Rufy2 UTSW 10 62997881 missense possibly damaging 0.86
R9181:Rufy2 UTSW 10 63000387 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGATGCTCGGAGTGACTCTG -3'
(R):5'- TGGGTGTCAGGTTCTACTCCAC -3'

Sequencing Primer
(F):5'- CTGATCTTAATGAGAACTCGGCAGC -3'
(R):5'- GGTTCTACTCCACCTCCAAGAG -3'
Posted On 2015-04-06