Incidental Mutation 'R1879:Mon2'
ID 211411
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 039900-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # R1879 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 122827965-122912410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 122838790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1565 (R1565H)
Ref Sequence ENSEMBL: ENSMUSP00000131052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037557] [ENSMUST00000073792] [ENSMUST00000170935]
AlphaFold Q80TL7
Predicted Effect possibly damaging
Transcript: ENSMUST00000037557
AA Change: R1564H

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: R1564H

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: R1571H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: R1571H

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: R1565H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: R1565H

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: ENSMUST00000219290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222536
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T C 2: 30,686,488 (GRCm39) D268G possibly damaging Het
Abce1 T C 8: 80,414,085 (GRCm39) N542S probably benign Het
Abcf1 T A 17: 36,272,704 (GRCm39) E260D probably benign Het
Ahcy A G 2: 154,906,072 (GRCm39) probably null Het
Akap13 C T 7: 75,260,475 (GRCm39) A1033V probably benign Het
Alkbh6 A G 7: 30,011,320 (GRCm39) N46S probably damaging Het
Ankrd34c A C 9: 89,612,126 (GRCm39) L72V probably damaging Het
Arf4 T A 14: 26,368,076 (GRCm39) N25K probably damaging Het
Arhgef4 A G 1: 34,761,521 (GRCm39) D259G unknown Het
Cavin1 C A 11: 100,861,036 (GRCm39) G86V probably damaging Het
Ces1d G A 8: 93,916,126 (GRCm39) T167I probably benign Het
Cfb T C 17: 35,079,536 (GRCm39) I754V probably benign Het
Clcnkb C T 4: 141,135,130 (GRCm39) R536H possibly damaging Het
Clpb T G 7: 101,355,690 (GRCm39) S181R probably benign Het
Col1a1 T C 11: 94,842,051 (GRCm39) M1366T unknown Het
Cped1 T A 6: 22,085,014 (GRCm39) probably null Het
Crip1 G A 12: 113,116,952 (GRCm39) C82Y probably damaging Het
Csmd3 T C 15: 47,520,915 (GRCm39) T2810A possibly damaging Het
Cyp2b9 A T 7: 25,897,994 (GRCm39) D266V probably damaging Het
Cyp46a1 A G 12: 108,319,385 (GRCm39) D294G probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Dst A G 1: 34,227,924 (GRCm39) E1514G probably benign Het
Dync1h1 A G 12: 110,591,070 (GRCm39) E1046G probably benign Het
Eya2 T C 2: 165,506,726 (GRCm39) V4A probably benign Het
Frem3 A T 8: 81,338,567 (GRCm39) R287* probably null Het
Fuca2 T A 10: 13,383,000 (GRCm39) C323S possibly damaging Het
Ggt7 T C 2: 155,356,707 (GRCm39) E4G possibly damaging Het
Gli1 C T 10: 127,169,606 (GRCm39) R383H probably damaging Het
Gm4559 C A 7: 141,827,998 (GRCm39) V35F unknown Het
Gpm6a T A 8: 55,490,365 (GRCm39) C14S probably damaging Het
Hcn2 A T 10: 79,562,023 (GRCm39) I340F probably benign Het
Hdac9 T A 12: 34,440,332 (GRCm39) D349V probably damaging Het
Krt34 T C 11: 99,929,118 (GRCm39) D364G possibly damaging Het
Myb T A 10: 21,017,876 (GRCm39) M482L probably benign Het
Nckap1l A T 15: 103,373,028 (GRCm39) I294F probably benign Het
Nr2e1 A G 10: 42,444,367 (GRCm39) probably null Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or1j16 G T 2: 36,530,201 (GRCm39) R50M possibly damaging Het
Or1r1 T A 11: 73,875,368 (GRCm39) D22V probably benign Het
Or4k38 A T 2: 111,165,808 (GRCm39) I205N possibly damaging Het
Or52h7 T C 7: 104,214,118 (GRCm39) V230A possibly damaging Het
Pde8b A T 13: 95,221,723 (GRCm39) I308N possibly damaging Het
Pdzd2 T C 15: 12,373,986 (GRCm39) R2050G possibly damaging Het
Phc3 C A 3: 30,968,607 (GRCm39) S840I probably damaging Het
Piezo2 T A 18: 63,247,031 (GRCm39) Y327F probably damaging Het
Pnliprp1 A T 19: 58,732,516 (GRCm39) I460F probably benign Het
Pphln1 T G 15: 93,321,927 (GRCm39) D35E probably damaging Het
Prdm6 G A 18: 53,701,289 (GRCm39) V360I probably damaging Het
Rab35 T A 5: 115,778,219 (GRCm39) W62R probably damaging Het
Sct G T 7: 140,858,612 (GRCm39) P70Q probably damaging Het
Sdf4 A G 4: 156,094,304 (GRCm39) N328S probably damaging Het
Senp5 A T 16: 31,802,642 (GRCm39) S488R probably damaging Het
Serpina3n A G 12: 104,375,213 (GRCm39) E95G probably benign Het
Sfswap C T 5: 129,618,392 (GRCm39) A442V probably benign Het
Sgcd T C 11: 47,246,068 (GRCm39) I45V probably benign Het
Sgcg T C 14: 61,474,346 (GRCm39) probably null Het
Slc39a12 G T 2: 14,448,868 (GRCm39) V489L probably benign Het
Slc5a11 T A 7: 122,838,671 (GRCm39) I96N possibly damaging Het
Slc6a12 A G 6: 121,324,382 (GRCm39) D2G probably damaging Het
Slc8a1 T C 17: 81,955,442 (GRCm39) D532G probably damaging Het
Smarcd3 C A 5: 24,798,019 (GRCm39) C465F probably damaging Het
Smc1b T A 15: 84,976,268 (GRCm39) Q813L probably benign Het
Spag1 G A 15: 36,181,916 (GRCm39) E25K probably damaging Het
Sptan1 A T 2: 29,885,540 (GRCm39) N715I probably damaging Het
Tas1r2 T A 4: 139,397,006 (GRCm39) Y782N probably damaging Het
Thap3 A T 4: 152,067,593 (GRCm39) C162S probably benign Het
Topaz1 T A 9: 122,578,684 (GRCm39) D531E possibly damaging Het
Vmn1r25 C T 6: 57,955,912 (GRCm39) A126T possibly damaging Het
Zfhx2 A G 14: 55,303,074 (GRCm39) F1637L probably benign Het
Zfhx2 T C 14: 55,310,206 (GRCm39) Y780C possibly damaging Het
Zfp513 T G 5: 31,357,767 (GRCm39) K202T probably damaging Het
Zfp956 A T 6: 47,940,678 (GRCm39) T346S probably benign Het
Zkscan1 C T 5: 138,095,410 (GRCm39) A219V 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
R1598:Mon2 UTSW 10 122,852,301 (GRCm39) missense probably damaging 1.00
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
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'- AGGGCATTTTCCACTCAGC -3'
(R):5'- GTTGATTATGGGCAGCCTCTC -3'

Sequencing Primer
(F):5'- GCCTCTCATCCTCTATGTAGCGATG -3'
(R):5'- GATTATGGGCAGCCTCTCTTTGC -3'
Posted On 2014-06-30