Incidental Mutation 'R7351:Irgm2'
ID 570589
Institutional Source Beutler Lab
Gene Symbol Irgm2
Ensembl Gene ENSMUSG00000069874
Gene Name immunity-related GTPase family M member 2
Synonyms Iigp2, Gtpi
MMRRC Submission 045437-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7351 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 58105803-58113609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58110431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 41 (V41M)
Ref Sequence ENSEMBL: ENSMUSP00000104464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058704] [ENSMUST00000108836] [ENSMUST00000209079]
AlphaFold A0A140LIF8
Predicted Effect possibly damaging
Transcript: ENSMUST00000058704
AA Change: V41M

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874
AA Change: V41M

DomainStartEndE-ValueType
Pfam:IIGP 30 387 8.1e-165 PFAM
Pfam:MMR_HSR1 66 179 9.3e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108836
AA Change: V41M

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104464
Gene: ENSMUSG00000069874
AA Change: V41M

DomainStartEndE-ValueType
Pfam:IIGP 30 387 4.9e-164 PFAM
Pfam:MMR_HSR1 66 179 2.2e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209079
AA Change: V53M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C A 3: 124,206,159 (GRCm39) G343V probably damaging Het
Adamts6 G A 13: 104,526,620 (GRCm39) S516N possibly damaging Het
Ahi1 A G 10: 20,841,832 (GRCm39) D301G probably damaging Het
Arhgef37 T A 18: 61,631,286 (GRCm39) L566F possibly damaging Het
AU040320 A G 4: 126,710,237 (GRCm39) N328D probably damaging Het
Bicc1 G T 10: 70,783,730 (GRCm39) T469K probably benign Het
Brk1 T C 6: 113,592,742 (GRCm39) S42P probably benign Het
Ccdc180 A G 4: 45,903,887 (GRCm39) E351G possibly damaging Het
Cenpo A T 12: 4,266,581 (GRCm39) F176I probably damaging Het
Cfap97d1 A G 11: 101,882,331 (GRCm39) E163G probably benign Het
Clec12b A G 6: 129,356,874 (GRCm39) probably null Het
Ddx42 A G 11: 106,138,508 (GRCm39) N769S probably benign Het
Drc7 A G 8: 95,785,135 (GRCm39) D165G probably benign Het
Dync2h1 A T 9: 7,167,145 (GRCm39) I486N probably damaging Het
Gmip A G 8: 70,270,034 (GRCm39) D679G probably benign Het
Gml2 T C 15: 74,693,225 (GRCm39) V76A possibly damaging Het
Gpr26 T C 7: 131,576,094 (GRCm39) C253R probably damaging Het
H2-Q4 A G 17: 35,601,854 (GRCm39) T239A possibly damaging Het
Hmcn1 T A 1: 150,543,640 (GRCm39) Y2845F probably damaging Het
Ift172 A G 5: 31,433,240 (GRCm39) Y550H probably damaging Het
Lrp2 C T 2: 69,278,486 (GRCm39) G3956R probably damaging Het
Matn2 G A 15: 34,345,482 (GRCm39) R163H probably damaging Het
Mxd1 A G 6: 86,628,448 (GRCm39) S151P probably damaging Het
Or10ak16 T C 4: 118,751,033 (GRCm39) V251A probably benign Het
Or4a73 C T 2: 89,420,857 (GRCm39) G201S probably benign Het
Or5m10b G T 2: 85,694,415 (GRCm39) probably benign Het
Or8b3 C T 9: 38,314,739 (GRCm39) L190F probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Plcg2 A G 8: 118,317,049 (GRCm39) E642G possibly damaging Het
Pramel6 T A 2: 87,340,672 (GRCm39) F335I probably benign Het
Psd G T 19: 46,310,869 (GRCm39) S393R probably benign Het
Pwwp2a A G 11: 43,573,107 (GRCm39) D63G probably benign Het
Rbm28 T C 6: 29,158,879 (GRCm39) T139A probably benign Het
Ripk2 T G 4: 16,155,048 (GRCm39) E157A probably damaging Het
Rnf145 G A 11: 44,439,623 (GRCm39) V140I possibly damaging Het
Rnf38 T C 4: 44,149,102 (GRCm39) N114D probably benign Het
Samd9l G A 6: 3,374,157 (GRCm39) R1035C probably benign Het
Sec14l3 A G 11: 4,024,785 (GRCm39) T245A probably benign Het
Serpina10 A T 12: 103,595,194 (GRCm39) F8L probably benign Het
Slc16a8 T A 15: 79,137,841 (GRCm39) D56V probably damaging Het
Spag9 A T 11: 93,983,802 (GRCm39) E726D probably benign Het
Spg11 A G 2: 121,900,412 (GRCm39) F1547L possibly damaging Het
Sspo T C 6: 48,441,855 (GRCm39) I1955T possibly damaging Het
Stx18 T A 5: 38,196,755 (GRCm39) V27E probably benign Het
Taf1c A G 8: 120,325,739 (GRCm39) S708P probably damaging Het
Tas2r126 T C 6: 42,412,240 (GRCm39) F258L probably benign Het
Tdpoz2 C T 3: 93,559,900 (GRCm39) W24* probably null Het
Tmc8 T C 11: 117,674,654 (GRCm39) L123P probably damaging Het
Trmo A T 4: 46,387,716 (GRCm39) Y35N possibly damaging Het
Ttn C T 2: 76,598,030 (GRCm39) V19628I possibly damaging Het
Ttn G A 2: 76,770,274 (GRCm39) A2685V unknown Het
Usp15 A T 10: 122,968,904 (GRCm39) M349K probably damaging Het
Vmn2r89 A G 14: 51,693,739 (GRCm39) N363S probably benign Het
Vwa3a T A 7: 120,375,559 (GRCm39) I423N probably damaging Het
Zfp592 T C 7: 80,691,439 (GRCm39) V1206A probably benign Het
Zfp866 A T 8: 70,218,547 (GRCm39) Y358N probably damaging Het
Other mutations in Irgm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01843:Irgm2 APN 11 58,111,167 (GRCm39) missense probably benign 0.00
IGL01933:Irgm2 APN 11 58,110,783 (GRCm39) missense possibly damaging 0.95
IGL02115:Irgm2 APN 11 58,110,948 (GRCm39) missense probably benign 0.21
IGL02398:Irgm2 APN 11 58,110,755 (GRCm39) missense probably damaging 1.00
IGL02708:Irgm2 APN 11 58,111,350 (GRCm39) missense probably benign 0.00
IGL02730:Irgm2 APN 11 58,110,816 (GRCm39) missense probably benign 0.26
R0282:Irgm2 UTSW 11 58,110,345 (GRCm39) missense probably benign 0.00
R1621:Irgm2 UTSW 11 58,111,364 (GRCm39) missense probably benign
R1717:Irgm2 UTSW 11 58,111,461 (GRCm39) missense probably damaging 1.00
R1980:Irgm2 UTSW 11 58,110,902 (GRCm39) missense probably damaging 0.99
R1986:Irgm2 UTSW 11 58,110,384 (GRCm39) missense probably benign 0.00
R2145:Irgm2 UTSW 11 58,111,355 (GRCm39) missense possibly damaging 0.90
R2184:Irgm2 UTSW 11 58,111,254 (GRCm39) missense probably benign 0.01
R2327:Irgm2 UTSW 11 58,111,218 (GRCm39) missense probably damaging 1.00
R4041:Irgm2 UTSW 11 58,110,956 (GRCm39) missense probably benign 0.00
R4231:Irgm2 UTSW 11 58,110,304 (GRCm39) start gained probably benign
R5988:Irgm2 UTSW 11 58,111,013 (GRCm39) missense probably benign 0.39
R6143:Irgm2 UTSW 11 58,111,435 (GRCm39) missense possibly damaging 0.55
R6508:Irgm2 UTSW 11 58,110,327 (GRCm39) missense probably benign
R6528:Irgm2 UTSW 11 58,110,878 (GRCm39) missense probably benign 0.10
R6851:Irgm2 UTSW 11 58,110,641 (GRCm39) missense possibly damaging 0.95
R7434:Irgm2 UTSW 11 58,110,291 (GRCm39) missense probably benign 0.01
R8951:Irgm2 UTSW 11 58,110,408 (GRCm39) missense possibly damaging 0.83
R9163:Irgm2 UTSW 11 58,111,280 (GRCm39) missense probably damaging 1.00
R9664:Irgm2 UTSW 11 58,110,872 (GRCm39) missense possibly damaging 0.63
Z1186:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1186:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1186:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1186:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1186:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1186:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1186:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1186:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1186:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Z1187:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Z1187:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1187:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1187:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1187:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1187:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1187:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1187:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1187:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1188:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1188:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1188:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1188:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1188:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1188:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1188:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1188:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1188:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Z1189:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1189:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1189:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1189:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1189:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1189:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1189:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1189:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1189:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Z1190:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Z1190:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1190:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1190:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1190:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1190:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1190:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1190:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1190:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1191:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1191:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1191:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1191:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1191:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1191:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1191:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1191:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1191:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Z1192:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1192:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1192:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1192:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1192:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1192:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1192:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1192:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1192:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGATCTGAAAGCCTGGACAAG -3'
(R):5'- CCAGTGGGAGCTGAATCTTTC -3'

Sequencing Primer
(F):5'- CTGGACAAGGAACAGTGTTTCCTG -3'
(R):5'- CAGTGGGAGCTGAATCTTTCTCTTC -3'
Posted On 2019-09-13