Incidental Mutation 'R1598:Mon2'
ID 175963
Institutional Source Beutler Lab
Gene Symbol Mon2
Ensembl Gene ENSMUSG00000034602
Gene Name MON2 homolog, regulator of endosome to Golgi trafficking
Synonyms 2610528O22Rik, SF21
MMRRC Submission 039635-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # R1598 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 122827965-122912410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122852301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1024 (Y1024C)
Ref Sequence ENSEMBL: ENSMUSP00000131052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037557] [ENSMUST00000073792] [ENSMUST00000170935]
AlphaFold Q80TL7
Predicted Effect probably damaging
Transcript: ENSMUST00000037557
AA Change: Y1023C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: Y1023C

DomainStartEndE-ValueType
low complexity region 119 138 N/A INTRINSIC
low complexity region 164 176 N/A INTRINSIC
Pfam:Sec7_N 208 294 6.5e-16 PFAM
Pfam:Sec7_N 299 385 2.6e-16 PFAM
low complexity region 405 438 N/A INTRINSIC
low complexity region 558 575 N/A INTRINSIC
low complexity region 615 627 N/A INTRINSIC
Pfam:DUF1981 844 929 2.4e-21 PFAM
low complexity region 984 1001 N/A INTRINSIC
low complexity region 1182 1193 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000073792
AA Change: Y1024C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: Y1024C

DomainStartEndE-ValueType
Pfam:DCB 8 184 3e-72 PFAM
Pfam:Sec7_N 211 384 3.1e-58 PFAM
low complexity region 405 438 N/A INTRINSIC
low complexity region 558 575 N/A INTRINSIC
low complexity region 615 627 N/A INTRINSIC
Pfam:DUF1981 848 929 6.6e-20 PFAM
Pfam:Mon2_C 932 1706 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170935
AA Change: Y1024C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: Y1024C

DomainStartEndE-ValueType
low complexity region 119 138 N/A INTRINSIC
low complexity region 164 176 N/A INTRINSIC
Pfam:Sec7_N 208 294 6.5e-16 PFAM
Pfam:Sec7_N 299 385 2.6e-16 PFAM
low complexity region 405 438 N/A INTRINSIC
low complexity region 559 576 N/A INTRINSIC
low complexity region 616 628 N/A INTRINSIC
Pfam:DUF1981 845 930 8.1e-22 PFAM
low complexity region 985 1002 N/A INTRINSIC
low complexity region 1183 1194 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222536
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik G A 11: 80,254,838 (GRCm39) Q328* probably null Het
Aadacl4fm4 T A 4: 144,396,994 (GRCm39) K246I possibly damaging Het
Adamts1 G A 16: 85,595,399 (GRCm39) Q260* probably null Het
Add2 A T 6: 86,075,628 (GRCm39) Y259F probably benign Het
Bora T C 14: 99,305,840 (GRCm39) V403A probably benign Het
Ccnl1 G A 3: 65,854,191 (GRCm39) R477W probably damaging Het
Cdc25a CG CGG 9: 109,708,961 (GRCm39) probably null Het
Cdr2l T C 11: 115,284,203 (GRCm39) S180P probably damaging Het
Cep290 T A 10: 100,385,191 (GRCm39) L1889Q probably damaging Het
Ces4a T C 8: 105,869,453 (GRCm39) V208A probably damaging Het
Col2a1 T C 15: 97,877,131 (GRCm39) D1049G probably damaging Het
Coro1a A T 7: 126,300,864 (GRCm39) N154K possibly damaging Het
Cubn T A 2: 13,474,600 (GRCm39) R401S probably benign Het
Cul7 A T 17: 46,974,017 (GRCm39) Q1434L probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dars1 G T 1: 128,301,709 (GRCm39) D308E probably benign Het
Dna2 T A 10: 62,797,436 (GRCm39) F604I probably damaging Het
Dnah1 T G 14: 31,023,219 (GRCm39) I1033L probably benign Het
Erlin1 T C 19: 44,036,112 (GRCm39) E206G probably damaging Het
Esrp2 T A 8: 106,859,905 (GRCm39) E345D probably damaging Het
Foxa1 T C 12: 57,589,473 (GRCm39) D249G possibly damaging Het
Ghsr C A 3: 27,426,426 (GRCm39) L161M probably benign Het
Gm57858 C T 3: 36,073,146 (GRCm39) A379T probably damaging Het
Gpr155 C A 2: 73,200,434 (GRCm39) V358F probably damaging Het
H2-Eb2 A T 17: 34,553,348 (GRCm39) N178I probably damaging Het
Hydin T A 8: 111,137,306 (GRCm39) I703N possibly damaging Het
Kctd15 A G 7: 34,341,417 (GRCm39) V170A probably damaging Het
Klhl31 A T 9: 77,558,298 (GRCm39) Y338F possibly damaging Het
Krt5 C T 15: 101,620,876 (GRCm39) A124T probably benign Het
Krt72 T A 15: 101,688,688 (GRCm39) I331F probably benign Het
Lrp1b T A 2: 41,401,490 (GRCm39) D388V probably damaging Het
Ly9 A G 1: 171,424,075 (GRCm39) V382A probably benign Het
Myh14 A G 7: 44,287,818 (GRCm39) F572L probably damaging Het
Myh3 A T 11: 66,983,997 (GRCm39) D987V probably damaging Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nphp4 A G 4: 152,646,547 (GRCm39) T1360A probably benign Het
Oog4 A G 4: 143,164,571 (GRCm39) L320P probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5m9 C T 2: 85,877,657 (GRCm39) T277I probably damaging Het
Or5w8 T A 2: 87,688,095 (GRCm39) I192K probably benign Het
Pcnx2 T C 8: 126,498,825 (GRCm39) N1558S probably benign Het
Pde10a A G 17: 9,147,976 (GRCm39) E147G probably damaging Het
Pgbd5 T A 8: 125,101,026 (GRCm39) H410L probably benign Het
Plce1 A C 19: 38,709,440 (GRCm39) D1098A probably damaging Het
Psg25 G A 7: 18,265,928 (GRCm39) Q16* probably null Het
Psmd9 T A 5: 123,379,980 (GRCm39) V133E probably damaging Het
Rabgap1 C T 2: 37,451,911 (GRCm39) S937F probably damaging Het
Rbck1 A G 2: 152,165,090 (GRCm39) probably null Het
Rprd2 C G 3: 95,726,051 (GRCm39) probably benign Het
Rrs1 A G 1: 9,616,137 (GRCm39) N130S probably benign Het
Scmh1 A T 4: 120,372,327 (GRCm39) I377F possibly damaging Het
Skor1 G T 9: 63,053,286 (GRCm39) R228S probably damaging Het
Slc2a4 A G 11: 69,835,844 (GRCm39) V335A probably benign Het
Slc4a9 G A 18: 36,661,424 (GRCm39) W62* probably null Het
Styxl2 G A 1: 165,937,828 (GRCm39) T77I probably benign Het
Taar9 G T 10: 23,985,305 (GRCm39) A43D possibly damaging Het
Tns4 T C 11: 98,961,243 (GRCm39) Y645C probably damaging Het
Tpcn2 G T 7: 144,830,957 (GRCm39) Y129* probably null Het
Trpm3 T C 19: 22,710,388 (GRCm39) S278P possibly damaging Het
Ttc3 T C 16: 94,223,156 (GRCm39) W615R probably damaging Het
Ttll5 T C 12: 85,910,372 (GRCm39) V207A probably damaging Het
Ubr7 G T 12: 102,736,153 (GRCm39) M358I probably damaging Het
Urb1 C A 16: 90,574,328 (GRCm39) V918F possibly damaging Het
Vmn2r51 G A 7: 9,839,432 (GRCm39) T52I probably benign Het
Vmn2r95 A T 17: 18,672,575 (GRCm39) I771F probably benign Het
Wfdc16 T C 2: 164,477,350 (GRCm39) S107G probably benign Het
Zmym2 A G 14: 57,140,226 (GRCm39) T22A possibly damaging Het
Zmym2 G A 14: 57,151,524 (GRCm39) G470R probably damaging Het
Other mutations in Mon2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Mon2 APN 10 122,862,204 (GRCm39) missense probably damaging 1.00
IGL01072:Mon2 APN 10 122,846,444 (GRCm39) nonsense probably null
IGL02080:Mon2 APN 10 122,888,095 (GRCm39) missense probably damaging 0.98
IGL02157:Mon2 APN 10 122,849,377 (GRCm39) missense probably damaging 1.00
IGL02419:Mon2 APN 10 122,852,352 (GRCm39) missense probably benign 0.05
IGL02498:Mon2 APN 10 122,870,235 (GRCm39) missense probably benign 0.00
IGL02638:Mon2 APN 10 122,859,844 (GRCm39) missense probably damaging 1.00
IGL02664:Mon2 APN 10 122,845,401 (GRCm39) splice site probably benign
IGL02690:Mon2 APN 10 122,845,532 (GRCm39) missense possibly damaging 0.67
IGL02878:Mon2 APN 10 122,842,896 (GRCm39) missense probably benign 0.09
IGL03092:Mon2 APN 10 122,854,005 (GRCm39) missense probably damaging 1.00
IGL03103:Mon2 APN 10 122,866,008 (GRCm39) splice site probably benign
IGL03208:Mon2 APN 10 122,853,974 (GRCm39) splice site probably benign
R0010:Mon2 UTSW 10 122,868,599 (GRCm39) missense probably damaging 1.00
R0016:Mon2 UTSW 10 122,871,451 (GRCm39) missense probably damaging 0.96
R0016:Mon2 UTSW 10 122,871,451 (GRCm39) missense probably damaging 0.96
R0027:Mon2 UTSW 10 122,871,953 (GRCm39) missense possibly damaging 0.66
R0027:Mon2 UTSW 10 122,871,953 (GRCm39) missense possibly damaging 0.66
R0145:Mon2 UTSW 10 122,849,417 (GRCm39) missense possibly damaging 0.94
R0390:Mon2 UTSW 10 122,842,926 (GRCm39) missense probably null 0.05
R0481:Mon2 UTSW 10 122,849,301 (GRCm39) missense possibly damaging 0.94
R0513:Mon2 UTSW 10 122,874,515 (GRCm39) missense probably damaging 1.00
R0599:Mon2 UTSW 10 122,861,970 (GRCm39) splice site probably benign
R1226:Mon2 UTSW 10 122,838,724 (GRCm39) missense probably benign 0.17
R1548:Mon2 UTSW 10 122,871,912 (GRCm39) splice site probably benign
R1650:Mon2 UTSW 10 122,831,682 (GRCm39) missense probably benign 0.45
R1687:Mon2 UTSW 10 122,862,029 (GRCm39) missense probably damaging 0.98
R1721:Mon2 UTSW 10 122,867,002 (GRCm39) missense probably damaging 0.98
R1768:Mon2 UTSW 10 122,849,668 (GRCm39) missense probably benign 0.00
R1827:Mon2 UTSW 10 122,882,216 (GRCm39) missense probably damaging 0.97
R1879:Mon2 UTSW 10 122,838,790 (GRCm39) missense probably damaging 1.00
R1954:Mon2 UTSW 10 122,874,388 (GRCm39) missense probably damaging 1.00
R1955:Mon2 UTSW 10 122,874,388 (GRCm39) missense probably damaging 1.00
R1968:Mon2 UTSW 10 122,845,470 (GRCm39) missense probably damaging 1.00
R2060:Mon2 UTSW 10 122,831,681 (GRCm39) missense probably damaging 1.00
R2160:Mon2 UTSW 10 122,911,834 (GRCm39) nonsense probably null
R2165:Mon2 UTSW 10 122,878,269 (GRCm39) splice site probably null
R3737:Mon2 UTSW 10 122,849,280 (GRCm39) missense probably damaging 1.00
R3814:Mon2 UTSW 10 122,849,470 (GRCm39) missense probably damaging 0.98
R4058:Mon2 UTSW 10 122,838,724 (GRCm39) missense probably benign 0.17
R4091:Mon2 UTSW 10 122,874,415 (GRCm39) missense probably damaging 1.00
R4214:Mon2 UTSW 10 122,852,397 (GRCm39) missense probably benign 0.03
R4354:Mon2 UTSW 10 122,862,888 (GRCm39) missense probably benign 0.02
R4422:Mon2 UTSW 10 122,878,887 (GRCm39) missense probably damaging 1.00
R4505:Mon2 UTSW 10 122,845,494 (GRCm39) missense probably damaging 0.99
R4791:Mon2 UTSW 10 122,841,962 (GRCm39) missense probably benign 0.01
R4797:Mon2 UTSW 10 122,852,422 (GRCm39) missense probably benign 0.45
R4944:Mon2 UTSW 10 122,874,364 (GRCm39) critical splice donor site probably null
R4982:Mon2 UTSW 10 122,831,694 (GRCm39) missense probably damaging 1.00
R5298:Mon2 UTSW 10 122,846,511 (GRCm39) missense probably benign
R5503:Mon2 UTSW 10 122,868,550 (GRCm39) missense possibly damaging 0.54
R5653:Mon2 UTSW 10 122,861,999 (GRCm39) missense probably damaging 0.96
R5687:Mon2 UTSW 10 122,844,144 (GRCm39) missense probably damaging 0.99
R5838:Mon2 UTSW 10 122,846,397 (GRCm39) critical splice donor site probably null
R6108:Mon2 UTSW 10 122,868,600 (GRCm39) missense probably benign 0.00
R6182:Mon2 UTSW 10 122,874,564 (GRCm39) splice site probably null
R6355:Mon2 UTSW 10 122,858,825 (GRCm39) missense possibly damaging 0.58
R6358:Mon2 UTSW 10 122,849,409 (GRCm39) missense probably damaging 0.98
R6548:Mon2 UTSW 10 122,871,998 (GRCm39) missense probably damaging 1.00
R6557:Mon2 UTSW 10 122,852,307 (GRCm39) missense probably damaging 1.00
R6649:Mon2 UTSW 10 122,874,385 (GRCm39) missense possibly damaging 0.46
R7140:Mon2 UTSW 10 122,871,358 (GRCm39) missense probably benign 0.00
R7303:Mon2 UTSW 10 122,874,364 (GRCm39) critical splice donor site probably null
R7317:Mon2 UTSW 10 122,849,851 (GRCm39) missense probably damaging 0.97
R7355:Mon2 UTSW 10 122,845,421 (GRCm39) missense probably benign
R7508:Mon2 UTSW 10 122,859,844 (GRCm39) missense probably damaging 1.00
R7509:Mon2 UTSW 10 122,868,457 (GRCm39) missense probably benign
R7647:Mon2 UTSW 10 122,841,931 (GRCm39) missense probably benign
R7720:Mon2 UTSW 10 122,868,493 (GRCm39) missense probably benign 0.00
R7799:Mon2 UTSW 10 122,878,236 (GRCm39) missense probably benign 0.41
R7801:Mon2 UTSW 10 122,895,091 (GRCm39) critical splice donor site probably null
R7823:Mon2 UTSW 10 122,868,559 (GRCm39) missense probably damaging 1.00
R7985:Mon2 UTSW 10 122,852,213 (GRCm39) missense probably damaging 1.00
R8310:Mon2 UTSW 10 122,838,688 (GRCm39) missense probably damaging 1.00
R8810:Mon2 UTSW 10 122,845,516 (GRCm39) missense possibly damaging 0.94
R8825:Mon2 UTSW 10 122,849,776 (GRCm39) missense probably benign 0.00
R8937:Mon2 UTSW 10 122,895,110 (GRCm39) missense probably benign
R8978:Mon2 UTSW 10 122,871,469 (GRCm39) nonsense probably null
R9011:Mon2 UTSW 10 122,862,213 (GRCm39) missense possibly damaging 0.95
R9213:Mon2 UTSW 10 122,872,016 (GRCm39) nonsense probably null
R9358:Mon2 UTSW 10 122,868,452 (GRCm39) missense probably benign 0.00
R9630:Mon2 UTSW 10 122,874,415 (GRCm39) missense probably damaging 1.00
X0022:Mon2 UTSW 10 122,842,007 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- ACACTCATGCGTCCACATGCATAT -3'
(R):5'- GCGCTGATGAGGGAAATGCTTGTA -3'

Sequencing Primer
(F):5'- agttcagttcccagcaacc -3'
(R):5'- GATGAGGGAAATGCTTGTATTGAATC -3'
Posted On 2014-04-24