Incidental Mutation 'R0010:Mon2'
ID 32498
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 038305-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # R0010 (G1)
Quality Score 202
Status Validated (trace)
Chromosome 10
Chromosomal Location 122827965-122912410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 122868599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 485 (S485A)
Ref Sequence ENSEMBL: ENSMUSP00000131052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037557] [ENSMUST00000073792] [ENSMUST00000170935] [ENSMUST00000219203]
AlphaFold Q80TL7
Predicted Effect probably damaging
Transcript: ENSMUST00000037557
AA Change: S485A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: S485A

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: S485A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: S485A

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: S485A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: S485A

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 0.1768 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (89/89)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,410,607 (GRCm39) probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Aoc1l3 A T 6: 48,965,840 (GRCm39) H616L probably damaging Het
Bbs7 T C 3: 36,661,866 (GRCm39) probably null Het
Cacna1h T C 17: 25,599,818 (GRCm39) K1566E probably damaging Het
Ccdc73 C T 2: 104,811,332 (GRCm39) probably benign Het
Cd74 A T 18: 60,942,143 (GRCm39) H124L probably benign Het
Cd74 A T 18: 60,936,968 (GRCm39) probably benign Het
Cdk5rap2 T C 4: 70,161,696 (GRCm39) E270G probably benign Het
Ces2a G A 8: 105,468,028 (GRCm39) D520N probably benign Het
Cldnd1 T A 16: 58,551,622 (GRCm39) probably benign Het
Cox17 T A 16: 38,167,532 (GRCm39) C24S possibly damaging Het
Cyp2b9 T A 7: 25,886,178 (GRCm39) probably benign Het
Dennd4a T C 9: 64,803,997 (GRCm39) L1112P probably benign Het
Dennd4c T C 4: 86,699,814 (GRCm39) S222P probably damaging Het
Dhx37 T A 5: 125,508,680 (GRCm39) Q85L probably benign Het
Egfem1 G T 3: 29,637,068 (GRCm39) C192F probably damaging Het
Eif3f A T 7: 108,540,212 (GRCm39) N336Y possibly damaging Het
Evc2 T A 5: 37,574,793 (GRCm39) L1016Q probably damaging Het
Fam114a2 G T 11: 57,404,982 (GRCm39) T40N probably damaging Het
Fam135b T C 15: 71,493,881 (GRCm39) K16R probably damaging Het
Fcho1 A G 8: 72,162,643 (GRCm39) Y725H probably damaging Het
Frem1 T C 4: 82,918,335 (GRCm39) I536V probably benign Het
Galnt2l G A 8: 122,997,337 (GRCm39) probably benign Het
Ginm1 T C 10: 7,651,138 (GRCm39) probably benign Het
Glrb A T 3: 80,767,622 (GRCm39) probably benign Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gm10320 T C 13: 98,626,054 (GRCm39) Y110C probably damaging Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gm5422 A G 10: 31,125,750 (GRCm39) noncoding transcript Het
Igkv6-29 A T 6: 70,115,754 (GRCm39) probably benign Het
Inpp5d G A 1: 87,625,268 (GRCm39) probably null Het
Itpr3 T G 17: 27,339,951 (GRCm39) V2610G probably damaging Het
Kmt5c T A 7: 4,749,207 (GRCm39) M88K probably benign Het
Lrp12 C T 15: 39,741,672 (GRCm39) A367T probably damaging Het
Ltbp1 A G 17: 75,670,386 (GRCm39) T1476A probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Milr1 T G 11: 106,657,829 (GRCm39) *209G probably null Het
Mitf A G 6: 97,784,242 (GRCm39) K33R probably benign Het
Mpdu1 C T 11: 69,549,667 (GRCm39) G47R probably damaging Het
Ms4a4d A G 19: 11,532,190 (GRCm39) N112S probably damaging Het
Mybpc3 G A 2: 90,965,178 (GRCm39) W1082* probably null Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Naa15 A T 3: 51,343,634 (GRCm39) probably null Het
Nav3 A G 10: 109,659,087 (GRCm39) probably benign Het
Nek7 T A 1: 138,471,942 (GRCm39) Q66L possibly damaging Het
Nktr G A 9: 121,570,232 (GRCm39) probably benign Het
Nlgn1 G T 3: 25,490,006 (GRCm39) probably benign Het
Npr1 T C 3: 90,362,139 (GRCm39) E1002G probably damaging Het
Nup133 A T 8: 124,631,318 (GRCm39) I1072N probably damaging Het
Oc90 C T 15: 65,748,397 (GRCm39) C371Y probably damaging Het
Or5ak24 A T 2: 85,260,239 (GRCm39) D311E probably benign Het
Or7g20 A T 9: 18,946,618 (GRCm39) L66F probably damaging Het
Or8b42 A T 9: 38,342,216 (GRCm39) I213F possibly damaging Het
Pradc1 A T 6: 85,424,213 (GRCm39) N44K probably damaging Het
Pradc1 T C 6: 85,424,602 (GRCm39) D116G probably damaging Het
Ptprk G A 10: 28,461,965 (GRCm39) C91Y probably damaging Het
Pus7 T C 5: 23,952,843 (GRCm39) I491V probably benign Het
Rock1 T A 18: 10,084,380 (GRCm39) D951V probably damaging Het
Scgb2b26 T A 7: 33,643,774 (GRCm39) E55D probably damaging Het
Scn8a T C 15: 100,911,454 (GRCm39) V958A probably damaging Het
Sec14l1 T C 11: 117,034,596 (GRCm39) probably benign Het
Sec24c A G 14: 20,739,329 (GRCm39) probably benign Het
Sema6b C T 17: 56,431,105 (GRCm39) E853K probably benign Het
Sgk1 G A 10: 21,873,337 (GRCm39) probably null Het
Shprh C T 10: 11,027,675 (GRCm39) T94I probably benign Het
Slc16a3 T C 11: 120,847,531 (GRCm39) S240P probably benign Het
Slc5a8 T C 10: 88,722,452 (GRCm39) V95A probably benign Het
Smg1 A T 7: 117,771,082 (GRCm39) probably benign Het
Spta1 G A 1: 174,045,509 (GRCm39) V1556I probably benign Het
Trappc14 T C 5: 138,258,555 (GRCm39) probably null Het
Trappc4 G A 9: 44,316,528 (GRCm39) probably benign Het
Tubgcp6 A G 15: 88,987,386 (GRCm39) S1188P probably benign Het
Txlna T G 4: 129,522,879 (GRCm39) D487A probably benign Het
Ube2d2b T C 5: 107,978,502 (GRCm39) F51S possibly damaging Het
Vmn2r6 G A 3: 64,466,966 (GRCm39) Q178* probably null Het
Wdfy3 T C 5: 101,996,215 (GRCm39) T3234A probably damaging Het
Ylpm1 C A 12: 85,075,800 (GRCm39) Q384K probably damaging Het
Zbtb41 T G 1: 139,351,268 (GRCm39) V127G probably damaging Het
Zfp605 T A 5: 110,275,400 (GRCm39) C173S probably benign Het
Zfp608 A T 18: 55,028,286 (GRCm39) probably benign Het
Zhx2 T C 15: 57,684,670 (GRCm39) V13A possibly 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
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
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'- TGACTGCATCAGAATCGGGGAGAC -3'
(R):5'- TTCTCCAAACGAAACAGCTCAGGG -3'

Sequencing Primer
(F):5'- ATGTGTCAGTATCAGGGACACTC -3'
(R):5'- GGAGGCCCCTCCCTTTTTTC -3'
Posted On 2013-05-09