Incidental Mutation 'R5503:Mon2'
ID 430750
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 043064-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R5503 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 122992060-123076505 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123032645 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 501 (M501K)
Ref Sequence ENSEMBL: ENSMUSP00000131052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037557] [ENSMUST00000073792] [ENSMUST00000170935] [ENSMUST00000219203]
AlphaFold Q80TL7
Predicted Effect possibly damaging
Transcript: ENSMUST00000037557
AA Change: M501K

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: M501K

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 possibly damaging
Transcript: ENSMUST00000073792
AA Change: M501K

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: M501K

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 possibly damaging
Transcript: ENSMUST00000170935
AA Change: M501K

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: M501K

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: ENSMUST00000218253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219001
Predicted Effect probably benign
Transcript: ENSMUST00000219203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222536
Meta Mutation Damage Score 0.2316 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.4%
  • 10x: 95.4%
  • 20x: 91.5%
Validation Efficiency 96% (103/107)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,164,546 (GRCm38) E685* probably null Het
2700049A03Rik A T 12: 71,164,547 (GRCm38) E685V possibly damaging Het
Abca6 A G 11: 110,218,257 (GRCm38) S696P probably damaging Het
Abca9 G A 11: 110,141,610 (GRCm38) T727M probably damaging Het
Alpk2 T C 18: 65,306,241 (GRCm38) R1161G probably benign Het
Amy1 T C 3: 113,556,060 (GRCm38) D487G probably benign Het
Arap2 G A 5: 62,630,186 (GRCm38) A1409V probably damaging Het
B020004J07Rik A T 4: 101,835,802 (GRCm38) Y334N probably benign Het
B4galt6 C A 18: 20,745,352 (GRCm38) probably null Het
Cacna1s G A 1: 136,086,742 (GRCm38) G382D probably damaging Het
Camk2a A G 18: 60,978,000 (GRCm38) D87G probably damaging Het
Cdh18 A G 15: 23,436,534 (GRCm38) Y492C probably damaging Het
Col18a1 C T 10: 77,071,620 (GRCm38) G861D probably damaging Het
Col4a3bp C T 13: 96,543,239 (GRCm38) R26C possibly damaging Het
Crybg1 C A 10: 43,998,766 (GRCm38) S782I probably benign Het
Csgalnact1 G A 8: 68,461,473 (GRCm38) L27F probably damaging Het
Dab1 T A 4: 104,512,264 (GRCm38) C3S probably benign Het
Dapk1 T C 13: 60,725,312 (GRCm38) F343L probably benign Het
Dgat1 A T 15: 76,502,194 (GRCm38) probably benign Het
Dnah11 C A 12: 117,880,451 (GRCm38) probably null Het
Dsg2 T A 18: 20,580,651 (GRCm38) Y226* probably null Het
Epg5 T A 18: 77,951,207 (GRCm38) M351K possibly damaging Het
F13b A G 1: 139,522,543 (GRCm38) T648A probably benign Het
Fgf17 T C 14: 70,636,968 (GRCm38) Y127C probably damaging Het
Fkbp15 G A 4: 62,327,887 (GRCm38) P435S probably benign Het
Gfm1 G A 3: 67,453,727 (GRCm38) probably null Het
Gigyf1 T C 5: 137,523,467 (GRCm38) probably benign Het
Gm12830 A T 4: 114,821,739 (GRCm38) T6S unknown Het
Gm6465 A T 5: 11,848,183 (GRCm38) N88I probably damaging Het
Gpr18 C T 14: 121,911,747 (GRCm38) V289I probably damaging Het
Ipp G T 4: 116,537,938 (GRCm38) E557* probably null Het
Klhl12 T A 1: 134,485,915 (GRCm38) probably null Het
Klhl38 A G 15: 58,322,349 (GRCm38) V328A possibly damaging Het
Kndc1 A G 7: 139,931,889 (GRCm38) T1470A probably damaging Het
Kntc1 T A 5: 123,819,876 (GRCm38) D2173E possibly damaging Het
Lipi T C 16: 75,573,976 (GRCm38) K118E probably benign Het
Marf1 A C 16: 14,152,231 (GRCm38) L208R probably damaging Het
Misp G A 10: 79,826,718 (GRCm38) R323K probably damaging Het
Mlxip T A 5: 123,395,327 (GRCm38) M133K probably damaging Het
Myh2 A G 11: 67,173,449 (GRCm38) I77V probably benign Het
Napa C A 7: 16,115,624 (GRCm38) Q254K probably benign Het
Nckap5l C A 15: 99,425,622 (GRCm38) G1000V probably damaging Het
Neo1 A T 9: 58,985,650 (GRCm38) S236R possibly damaging Het
Neurl4 T A 11: 69,906,368 (GRCm38) Y594N probably damaging Het
Nmral1 G A 16: 4,715,629 (GRCm38) P94L probably benign Het
Notch3 A T 17: 32,147,055 (GRCm38) I1024N probably benign Het
Nsd1 T A 13: 55,245,939 (GRCm38) I451K probably damaging Het
Nt5c3b T C 11: 100,433,057 (GRCm38) D143G probably benign Het
Olfr1415 C A 1: 92,491,196 (GRCm38) K186N probably benign Het
Olfr27 A G 9: 39,144,484 (GRCm38) N128S probably benign Het
Olfr316 T A 11: 58,758,328 (GRCm38) V221E probably damaging Het
Olfr45 A C 7: 140,691,396 (GRCm38) M164L probably benign Het
Olfr77 A G 9: 19,920,379 (GRCm38) T57A probably benign Het
Olfr912 T C 9: 38,582,072 (GRCm38) V265A probably benign Het
Oplah A G 15: 76,305,446 (GRCm38) probably null Het
Phb2 T A 6: 124,713,022 (GRCm38) probably benign Het
Plcl2 A G 17: 50,509,929 (GRCm38) I108V probably benign Het
Plpp6 T A 19: 28,964,746 (GRCm38) M249K probably damaging Het
Pnpt1 G A 11: 29,138,156 (GRCm38) G189E probably damaging Het
Ptprn C T 1: 75,251,875 (GRCm38) V853M probably damaging Het
Ptprq T C 10: 107,688,328 (GRCm38) probably null Het
Rai1 G A 11: 60,186,453 (GRCm38) V448I probably benign Het
Rbm20 T A 19: 53,851,354 (GRCm38) C925S possibly damaging Het
Rin3 C A 12: 102,313,055 (GRCm38) P41Q probably benign Het
Rpl31-ps21 T C 5: 21,119,507 (GRCm38) noncoding transcript Het
Rpl39-ps A T 15: 102,635,126 (GRCm38) noncoding transcript Het
Rtn4ip1 T A 10: 43,907,883 (GRCm38) D133E probably benign Het
Ryr1 T C 7: 29,069,028 (GRCm38) K2839E possibly damaging Het
Sept5 T C 16: 18,623,368 (GRCm38) K268R probably benign Het
Serpinb6b T A 13: 32,977,659 (GRCm38) D238E possibly damaging Het
Slc15a2 C T 16: 36,762,385 (GRCm38) V214M probably damaging Het
Smarca2 T C 19: 26,623,936 (GRCm38) M18T probably damaging Het
Smarca2 C A 19: 26,682,046 (GRCm38) T912K possibly damaging Het
Smdt1 A T 15: 82,347,900 (GRCm38) R46S possibly damaging Het
Spa17 A C 9: 37,611,977 (GRCm38) F5V probably damaging Het
Spag17 A G 3: 100,027,244 (GRCm38) E614G possibly damaging Het
Sstr4 CGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 2: 148,395,551 (GRCm38) probably benign Het
Tlr1 A T 5: 64,926,292 (GRCm38) V314D probably damaging Het
Trappc8 A T 18: 20,836,900 (GRCm38) L1011Q probably benign Het
Tsga10 A G 1: 37,760,947 (GRCm38) *691Q probably null Het
Vav1 A T 17: 57,303,079 (GRCm38) K420* probably null Het
Vmn1r174 C G 7: 23,754,137 (GRCm38) T76R probably benign Het
Vmn2r116 A G 17: 23,386,804 (GRCm38) E230G probably benign Het
Vps13b A G 15: 35,452,166 (GRCm38) T637A probably damaging Het
Zbtb7a A G 10: 81,144,797 (GRCm38) E275G probably damaging Het
Zfp280b A G 10: 76,039,462 (GRCm38) probably null Het
Zfp763 A G 17: 33,019,533 (GRCm38) Y213H possibly damaging Het
Zfp78 T A 7: 6,378,529 (GRCm38) W161R probably benign Het
Other mutations in Mon2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Mon2 APN 10 123,026,299 (GRCm38) missense probably damaging 1.00
IGL01072:Mon2 APN 10 123,010,539 (GRCm38) nonsense probably null
IGL02080:Mon2 APN 10 123,052,190 (GRCm38) missense probably damaging 0.98
IGL02157:Mon2 APN 10 123,013,472 (GRCm38) missense probably damaging 1.00
IGL02419:Mon2 APN 10 123,016,447 (GRCm38) missense probably benign 0.05
IGL02498:Mon2 APN 10 123,034,330 (GRCm38) missense probably benign 0.00
IGL02638:Mon2 APN 10 123,023,939 (GRCm38) missense probably damaging 1.00
IGL02664:Mon2 APN 10 123,009,496 (GRCm38) splice site probably benign
IGL02690:Mon2 APN 10 123,009,627 (GRCm38) missense possibly damaging 0.67
IGL02878:Mon2 APN 10 123,006,991 (GRCm38) missense probably benign 0.09
IGL03092:Mon2 APN 10 123,018,100 (GRCm38) missense probably damaging 1.00
IGL03103:Mon2 APN 10 123,030,103 (GRCm38) splice site probably benign
IGL03208:Mon2 APN 10 123,018,069 (GRCm38) splice site probably benign
R0010:Mon2 UTSW 10 123,032,694 (GRCm38) missense probably damaging 1.00
R0016:Mon2 UTSW 10 123,035,546 (GRCm38) missense probably damaging 0.96
R0016:Mon2 UTSW 10 123,035,546 (GRCm38) missense probably damaging 0.96
R0027:Mon2 UTSW 10 123,036,048 (GRCm38) missense possibly damaging 0.66
R0027:Mon2 UTSW 10 123,036,048 (GRCm38) missense possibly damaging 0.66
R0145:Mon2 UTSW 10 123,013,512 (GRCm38) missense possibly damaging 0.94
R0390:Mon2 UTSW 10 123,007,021 (GRCm38) missense probably null 0.05
R0481:Mon2 UTSW 10 123,013,396 (GRCm38) missense possibly damaging 0.94
R0513:Mon2 UTSW 10 123,038,610 (GRCm38) missense probably damaging 1.00
R0599:Mon2 UTSW 10 123,026,065 (GRCm38) splice site probably benign
R1226:Mon2 UTSW 10 123,002,819 (GRCm38) missense probably benign 0.17
R1548:Mon2 UTSW 10 123,036,007 (GRCm38) splice site probably benign
R1598:Mon2 UTSW 10 123,016,396 (GRCm38) missense probably damaging 1.00
R1650:Mon2 UTSW 10 122,995,777 (GRCm38) missense probably benign 0.45
R1687:Mon2 UTSW 10 123,026,124 (GRCm38) missense probably damaging 0.98
R1721:Mon2 UTSW 10 123,031,097 (GRCm38) missense probably damaging 0.98
R1768:Mon2 UTSW 10 123,013,763 (GRCm38) missense probably benign 0.00
R1827:Mon2 UTSW 10 123,046,311 (GRCm38) missense probably damaging 0.97
R1879:Mon2 UTSW 10 123,002,885 (GRCm38) missense probably damaging 1.00
R1954:Mon2 UTSW 10 123,038,483 (GRCm38) missense probably damaging 1.00
R1955:Mon2 UTSW 10 123,038,483 (GRCm38) missense probably damaging 1.00
R1968:Mon2 UTSW 10 123,009,565 (GRCm38) missense probably damaging 1.00
R2060:Mon2 UTSW 10 122,995,776 (GRCm38) missense probably damaging 1.00
R2160:Mon2 UTSW 10 123,075,929 (GRCm38) nonsense probably null
R2165:Mon2 UTSW 10 123,042,364 (GRCm38) splice site probably null
R3737:Mon2 UTSW 10 123,013,375 (GRCm38) missense probably damaging 1.00
R3814:Mon2 UTSW 10 123,013,565 (GRCm38) missense probably damaging 0.98
R4058:Mon2 UTSW 10 123,002,819 (GRCm38) missense probably benign 0.17
R4091:Mon2 UTSW 10 123,038,510 (GRCm38) missense probably damaging 1.00
R4214:Mon2 UTSW 10 123,016,492 (GRCm38) missense probably benign 0.03
R4354:Mon2 UTSW 10 123,026,983 (GRCm38) missense probably benign 0.02
R4422:Mon2 UTSW 10 123,042,982 (GRCm38) missense probably damaging 1.00
R4505:Mon2 UTSW 10 123,009,589 (GRCm38) missense probably damaging 0.99
R4791:Mon2 UTSW 10 123,006,057 (GRCm38) missense probably benign 0.01
R4797:Mon2 UTSW 10 123,016,517 (GRCm38) missense probably benign 0.45
R4944:Mon2 UTSW 10 123,038,459 (GRCm38) critical splice donor site probably null
R4982:Mon2 UTSW 10 122,995,789 (GRCm38) missense probably damaging 1.00
R5298:Mon2 UTSW 10 123,010,606 (GRCm38) missense probably benign
R5653:Mon2 UTSW 10 123,026,094 (GRCm38) missense probably damaging 0.96
R5687:Mon2 UTSW 10 123,008,239 (GRCm38) missense probably damaging 0.99
R5838:Mon2 UTSW 10 123,010,492 (GRCm38) critical splice donor site probably null
R6108:Mon2 UTSW 10 123,032,695 (GRCm38) missense probably benign 0.00
R6182:Mon2 UTSW 10 123,038,659 (GRCm38) splice site probably null
R6355:Mon2 UTSW 10 123,022,920 (GRCm38) missense possibly damaging 0.58
R6358:Mon2 UTSW 10 123,013,504 (GRCm38) missense probably damaging 0.98
R6548:Mon2 UTSW 10 123,036,093 (GRCm38) missense probably damaging 1.00
R6557:Mon2 UTSW 10 123,016,402 (GRCm38) missense probably damaging 1.00
R6649:Mon2 UTSW 10 123,038,480 (GRCm38) missense possibly damaging 0.46
R7140:Mon2 UTSW 10 123,035,453 (GRCm38) missense probably benign 0.00
R7303:Mon2 UTSW 10 123,038,459 (GRCm38) critical splice donor site probably null
R7317:Mon2 UTSW 10 123,013,946 (GRCm38) missense probably damaging 0.97
R7355:Mon2 UTSW 10 123,009,516 (GRCm38) missense probably benign
R7508:Mon2 UTSW 10 123,023,939 (GRCm38) missense probably damaging 1.00
R7509:Mon2 UTSW 10 123,032,552 (GRCm38) missense probably benign
R7647:Mon2 UTSW 10 123,006,026 (GRCm38) missense probably benign
R7720:Mon2 UTSW 10 123,032,588 (GRCm38) missense probably benign 0.00
R7799:Mon2 UTSW 10 123,042,331 (GRCm38) missense probably benign 0.41
R7801:Mon2 UTSW 10 123,059,186 (GRCm38) critical splice donor site probably null
R7823:Mon2 UTSW 10 123,032,654 (GRCm38) missense probably damaging 1.00
R7985:Mon2 UTSW 10 123,016,308 (GRCm38) missense probably damaging 1.00
R8310:Mon2 UTSW 10 123,002,783 (GRCm38) missense probably damaging 1.00
R8810:Mon2 UTSW 10 123,009,611 (GRCm38) missense possibly damaging 0.94
R8825:Mon2 UTSW 10 123,013,871 (GRCm38) missense probably benign 0.00
R8937:Mon2 UTSW 10 123,059,205 (GRCm38) missense probably benign
R8978:Mon2 UTSW 10 123,035,564 (GRCm38) nonsense probably null
R9011:Mon2 UTSW 10 123,026,308 (GRCm38) missense possibly damaging 0.95
R9213:Mon2 UTSW 10 123,036,111 (GRCm38) nonsense probably null
R9358:Mon2 UTSW 10 123,032,547 (GRCm38) missense probably benign 0.00
R9630:Mon2 UTSW 10 123,038,510 (GRCm38) missense probably damaging 1.00
X0022:Mon2 UTSW 10 123,006,102 (GRCm38) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- GCAGCATGGTGATGTGTCAG -3'
(R):5'- GAGTCTACAAATTATGGGAATGCTTTC -3'

Sequencing Primer
(F):5'- ATGTGTCAGTATCAGGGACACTCC -3'
(R):5'- GGAATGCTTTCCTGTGGTTCTTTCC -3'
Posted On 2016-10-05