Incidental Mutation 'R1687:Mon2'
ID 189436
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 039720-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R1687 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 122827965-122912410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122862029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 772 (S772P)
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: S771P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037568
Gene: ENSMUSG00000034602
AA Change: S771P

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: S771P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073462
Gene: ENSMUSG00000034602
AA Change: S771P

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: S772P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131052
Gene: ENSMUSG00000034602
AA Change: S772P

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 noncoding transcript
Transcript: ENSMUST00000219515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222536
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,184,714 (GRCm39) F931I probably benign Het
Alox15 T A 11: 70,240,744 (GRCm39) H212L probably benign Het
Arhgap42 A T 9: 9,035,538 (GRCm39) V268D probably benign Het
Armc9 A G 1: 86,084,677 (GRCm39) M1V probably null Het
Brca1 C T 11: 101,380,666 (GRCm39) C1789Y probably benign Het
Cacng4 A G 11: 107,627,585 (GRCm39) V138A probably benign Het
Camsap1 A G 2: 25,829,627 (GRCm39) F699S probably damaging Het
Ccm2 A G 11: 6,535,118 (GRCm39) R67G probably damaging Het
Cdk16 G A X: 20,562,898 (GRCm39) probably null Het
Cep85 T C 4: 133,875,324 (GRCm39) H546R probably benign Het
Cfap54 T C 10: 92,768,502 (GRCm39) D207G probably damaging Het
Cldn9 G T 17: 23,902,050 (GRCm39) R192S probably benign Het
Crybb3 A G 5: 113,227,633 (GRCm39) S63P probably damaging Het
Cux1 A G 5: 136,341,523 (GRCm39) L615P probably damaging Het
Dctn3 A G 4: 41,715,407 (GRCm39) Y154H probably damaging Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dnah3 A T 7: 119,645,009 (GRCm39) probably null Het
Eif1ad2 A G 12: 87,786,488 (GRCm39) D133G unknown Het
Eml6 G A 11: 29,783,187 (GRCm39) H565Y probably damaging Het
Ephb6 T C 6: 41,594,300 (GRCm39) V610A probably benign Het
Fam234a T C 17: 26,434,282 (GRCm39) Y333C probably damaging Het
Fbln1 G A 15: 85,111,307 (GRCm39) V154I probably benign Het
Frem2 A T 3: 53,561,373 (GRCm39) W1045R probably benign Het
Fubp1 A G 3: 151,933,838 (GRCm39) probably benign Het
Gja3 T A 14: 57,274,333 (GRCm39) N13I probably damaging Het
Gpr20 C A 15: 73,567,751 (GRCm39) V213L probably benign Het
Grk5 T C 19: 61,065,221 (GRCm39) I295T probably damaging Het
Gucy1b1 A G 3: 81,945,349 (GRCm39) F430L probably damaging Het
Gzmk T A 13: 113,310,462 (GRCm39) I119L probably benign Het
Hadh T C 3: 131,038,898 (GRCm39) I153V probably benign Het
Hsfy2 T C 1: 56,676,012 (GRCm39) Y175C probably damaging Het
Hspa5 T C 2: 34,665,836 (GRCm39) I560T probably benign Het
Igdcc4 T C 9: 65,038,945 (GRCm39) V863A probably damaging Het
Il22ra2 A G 10: 19,508,620 (GRCm39) D216G probably benign Het
Klc2 G A 19: 5,161,682 (GRCm39) P303S probably damaging Het
Lama5 C T 2: 179,835,859 (GRCm39) V1192I probably benign Het
Mphosph8 T A 14: 56,909,935 (GRCm39) L96Q probably damaging Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Nckap1 A G 2: 80,350,929 (GRCm39) I726T probably damaging Het
Ndnf A T 6: 65,680,407 (GRCm39) T229S probably benign Het
Npas3 A T 12: 54,095,658 (GRCm39) probably null Het
Nrap C T 19: 56,343,961 (GRCm39) E729K probably damaging Het
Nsun2 T A 13: 69,775,716 (GRCm39) F387I probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Pabpc1l C T 2: 163,886,226 (GRCm39) T452M probably benign Het
Pcdh10 T C 3: 45,334,450 (GRCm39) Y255H probably damaging Het
Pdcd6ip A T 9: 113,529,087 (GRCm39) Y72N probably damaging Het
Pglyrp1 A T 7: 18,618,629 (GRCm39) probably benign Het
Pkp2 T C 16: 16,086,573 (GRCm39) probably null Het
Ppard A G 17: 28,516,154 (GRCm39) Y126C probably damaging Het
Prkcq T C 2: 11,295,344 (GRCm39) Y598H probably damaging Het
Rhobtb1 A G 10: 69,106,109 (GRCm39) T287A probably damaging Het
Sema4b T C 7: 79,869,010 (GRCm39) Y361H probably damaging Het
Slfn9 A T 11: 82,872,983 (GRCm39) I640N probably damaging Het
Smurf2 C A 11: 106,726,896 (GRCm39) probably null Het
Spag5 T C 11: 78,195,755 (GRCm39) V354A probably benign Het
Sptb T C 12: 76,650,473 (GRCm39) D1748G possibly damaging Het
St6galnac5 C A 3: 152,686,887 (GRCm39) L22F probably benign Het
Sugp2 T C 8: 70,695,284 (GRCm39) S86P probably damaging Het
Tnk1 T C 11: 69,747,299 (GRCm39) I111V possibly damaging Het
Tnni3k T A 3: 154,645,263 (GRCm39) I541F possibly damaging Het
Trim36 G T 18: 46,321,724 (GRCm39) H108N possibly damaging Het
Ttn T C 2: 76,701,251 (GRCm39) probably benign Het
Usp28 T A 9: 48,935,317 (GRCm39) S89R probably benign Het
Vmn2r121 T C X: 123,042,488 (GRCm39) D223G probably benign Het
Vmn2r65 T A 7: 84,590,026 (GRCm39) Y630F probably benign Het
Washc2 T A 6: 116,233,673 (GRCm39) S900T probably benign Het
Wdr72 A G 9: 74,117,481 (GRCm39) N731S probably benign Het
Xrra1 T A 7: 99,525,451 (GRCm39) F123L probably damaging Het
Zfp648 A G 1: 154,079,988 (GRCm39) D49G probably benign 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
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'- AGCTACACCGTGCCGTCTTTAC -3'
(R):5'- GCTTCCTGAAATGTCACGCACACTC -3'

Sequencing Primer
(F):5'- CCGTCTTTACTCCTGCTACAAG -3'
(R):5'- TCTAGGTTCTGACAACAGCG -3'
Posted On 2014-05-14