Incidental Mutation 'R6528:Irgm2'
ID 522097
Institutional Source Beutler Lab
Gene Symbol Irgm2
Ensembl Gene ENSMUSG00000069874
Gene Name immunity-related GTPase family M member 2
Synonyms Iigp2, Gtpi
MMRRC Submission 044654-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6528 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 58105803-58113609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 58110878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 202 (P202S)
Ref Sequence ENSEMBL: ENSMUSP00000146805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058704] [ENSMUST00000108836] [ENSMUST00000209079]
AlphaFold A0A140LIF8
Predicted Effect probably benign
Transcript: ENSMUST00000058704
AA Change: P190S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874
AA Change: P190S

DomainStartEndE-ValueType
Pfam:IIGP 30 387 8.1e-165 PFAM
Pfam:MMR_HSR1 66 179 9.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108836
AA Change: P190S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104464
Gene: ENSMUSG00000069874
AA Change: P190S

DomainStartEndE-ValueType
Pfam:IIGP 30 387 4.9e-164 PFAM
Pfam:MMR_HSR1 66 179 2.2e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209079
AA Change: P202S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.2256 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.6%
Validation Efficiency 98% (55/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 C T 8: 56,325,596 (GRCm39) R286H possibly damaging Het
Arhgap29 T A 3: 121,808,351 (GRCm39) N1176K probably benign Het
Cacfd1 T G 2: 26,908,951 (GRCm39) D97E probably benign Het
Ccnj C A 19: 40,820,529 (GRCm39) probably null Het
Chad A G 11: 94,456,450 (GRCm39) Y176C probably damaging Het
Chd5 T C 4: 152,441,133 (GRCm39) L191P probably damaging Het
Cmtm1 T C 8: 105,035,927 (GRCm39) D190G possibly damaging Het
Cyp3a16 C T 5: 145,377,241 (GRCm39) A449T probably damaging Het
Eml5 T C 12: 98,790,896 (GRCm39) E1334G probably benign Het
Endou C T 15: 97,617,510 (GRCm39) E147K probably damaging Het
Fbxo21 C A 5: 118,138,421 (GRCm39) H449N probably benign Het
Fkbp15 A G 4: 62,250,507 (GRCm39) I363T probably damaging Het
Gm12887 C A 4: 121,472,834 (GRCm39) G103C probably damaging Het
Gm14410 T A 2: 176,885,301 (GRCm39) H321L probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Khsrp G A 17: 57,330,543 (GRCm39) T551I probably damaging Het
Lpin2 T A 17: 71,551,000 (GRCm39) I720N probably damaging Het
Lypd8 G A 11: 58,275,439 (GRCm39) G58E probably damaging Het
Mdn1 G T 4: 32,713,780 (GRCm39) L1952F probably damaging Het
Med13 G A 11: 86,189,780 (GRCm39) P1043L probably damaging Het
Mycbp2 T C 14: 103,380,317 (GRCm39) T3832A probably damaging Het
Nrxn3 C T 12: 89,479,819 (GRCm39) R654C probably damaging Het
Or10a3m T C 7: 108,312,638 (GRCm39) L14P probably damaging Het
Or12j3 G T 7: 139,953,354 (GRCm39) H56Q possibly damaging Het
Or13a22 A G 7: 140,072,964 (GRCm39) M138V probably damaging Het
Or8k35 T C 2: 86,424,809 (GRCm39) D121G probably damaging Het
Pcdhb6 A G 18: 37,467,556 (GRCm39) D159G probably damaging Het
Plec T C 15: 76,058,630 (GRCm39) E3759G probably damaging Het
Plekho1 C T 3: 95,896,633 (GRCm39) D236N probably damaging Het
Pnma1 T A 12: 84,194,197 (GRCm39) I169F probably benign Het
Ppl T A 16: 4,905,480 (GRCm39) H1605L probably benign Het
Ppp2r2b T A 18: 42,821,403 (GRCm39) M252L probably benign Het
Pramel29 A G 4: 143,935,381 (GRCm39) V120A probably damaging Het
Prickle4 T A 17: 48,000,258 (GRCm39) R246* probably null Het
Rad50 G A 11: 53,543,109 (GRCm39) T1235I probably damaging Het
Ranbp10 T C 8: 106,506,588 (GRCm39) N244S probably damaging Het
Robo4 T C 9: 37,315,664 (GRCm39) S306P possibly damaging Het
Shox2 C A 3: 66,888,618 (GRCm39) R91L probably benign Het
Tbx5 A G 5: 120,021,176 (GRCm39) E394G probably damaging Het
Tcl1b5 A G 12: 105,145,258 (GRCm39) N74S probably benign Het
Tgif1 G A 17: 71,153,555 (GRCm39) probably benign Het
Tmem128 T A 5: 38,423,843 (GRCm39) probably null Het
Trio A G 15: 27,805,956 (GRCm39) S511P probably damaging Het
Trps1 A G 15: 50,685,823 (GRCm39) I114T probably benign Het
Ttll8 G T 15: 88,798,441 (GRCm39) Q765K probably benign Het
Usp17ld A T 7: 102,899,962 (GRCm39) D323E probably damaging Het
Vmn1r232 G A 17: 21,134,309 (GRCm39) T97I probably benign Het
Vmn2r28 T A 7: 5,493,684 (GRCm39) R87S probably benign Het
Vps26b C G 9: 26,921,762 (GRCm39) E254D probably benign Het
Vps8 C A 16: 21,372,875 (GRCm39) Y113* probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xcr1 A T 9: 123,685,048 (GRCm39) I238N probably damaging Het
Zar1l T A 5: 150,430,595 (GRCm39) E272V probably damaging Het
Zfp451 A G 1: 33,816,862 (GRCm39) Y146H probably damaging Het
Zfp54 G T 17: 21,653,736 (GRCm39) E77* probably null 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
R6851:Irgm2 UTSW 11 58,110,641 (GRCm39) missense possibly damaging 0.95
R7351:Irgm2 UTSW 11 58,110,431 (GRCm39) missense possibly damaging 0.93
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'- CACTTTCCCTATGTGGAGCTGTG -3'
(R):5'- GGTACTTGATGACAGGGAGGTC -3'

Sequencing Primer
(F):5'- CCTATGTGGAGCTGTGGGACC -3'
(R):5'- AGGTCTTTTTGTAGTGTCTCCCTAAG -3'
Posted On 2018-06-06