Incidental Mutation 'R9664:Irgm2'
ID 735641
Institutional Source Beutler Lab
Gene Symbol Irgm2
Ensembl Gene ENSMUSG00000069874
Gene Name immunity-related GTPase family M member 2
Synonyms Iigp2, Gtpi
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9664 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 58105803-58113609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58110872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 188 (T188S)
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: T188S

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874
AA Change: T188S

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: T188S

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104464
Gene: ENSMUSG00000069874
AA Change: T188S

DomainStartEndE-ValueType
Pfam:IIGP 30 387 4.9e-164 PFAM
Pfam:MMR_HSR1 66 179 2.2e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209079
AA Change: T200S

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.2%
Validation Efficiency
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 G A 15: 76,478,383 (GRCm39) D277N probably damaging Het
Adgrv1 A T 13: 81,670,288 (GRCm39) S2353T probably benign Het
Adgrv1 A T 13: 81,743,371 (GRCm39) N43K probably damaging Het
Adnp2 A G 18: 80,185,937 (GRCm39) I12T probably damaging Het
Ahnak2 A G 12: 112,741,363 (GRCm39) L903P probably damaging Het
Ankhd1 T G 18: 36,780,878 (GRCm39) S1977A probably benign Het
Ap1m2 T C 9: 21,216,983 (GRCm39) M118V probably benign Het
Ap3d1 T C 10: 80,548,639 (GRCm39) K846R possibly damaging Het
Aqr C A 2: 113,971,396 (GRCm39) E480* probably null Het
Arl6 G T 16: 59,434,199 (GRCm39) Q182K probably benign Het
Arpc2 A G 1: 74,294,034 (GRCm39) K106E probably benign Het
Atp8a1 A C 5: 67,889,524 (GRCm39) F599V Het
B3galt5 A T 16: 96,117,203 (GRCm39) I279F probably damaging Het
Calcoco2 G T 11: 95,991,104 (GRCm39) A211D unknown Het
Ccdc33 T C 9: 57,993,855 (GRCm39) E342G possibly damaging Het
Ccdc88a C A 11: 29,405,484 (GRCm39) Q386K probably benign Het
Cdh20 A G 1: 104,862,065 (GRCm39) K82E probably benign Het
Clca3a2 A T 3: 144,503,575 (GRCm39) Y792N probably damaging Het
Col6a6 T C 9: 105,658,254 (GRCm39) I653V probably benign Het
Col7a1 C T 9: 108,812,649 (GRCm39) R2826W unknown Het
D6Ertd527e A G 6: 87,088,908 (GRCm39) N357S unknown Het
Dmgdh T A 13: 93,857,123 (GRCm39) N742K probably benign Het
Dnai3 T C 3: 145,748,594 (GRCm39) N840S probably benign Het
Dnajc6 A G 4: 101,475,821 (GRCm39) N565D probably benign Het
Doc2g A G 19: 4,054,390 (GRCm39) Y155C probably damaging Het
Dot1l G A 10: 80,624,361 (GRCm39) G943D probably damaging Het
Dst T C 1: 34,220,736 (GRCm39) V2180A probably benign Het
Eftud2 A C 11: 102,759,422 (GRCm39) Y160* probably null Het
Ehd1 A T 19: 6,331,262 (GRCm39) Q140L probably benign Het
Etv3 T C 3: 87,443,172 (GRCm39) V252A probably benign Het
F11 A T 8: 45,694,566 (GRCm39) C598* probably null Het
Fancm T A 12: 65,137,758 (GRCm39) N316K probably benign Het
Flnc T C 6: 29,457,214 (GRCm39) V2372A probably damaging Het
Fry A G 5: 150,282,488 (GRCm39) R338G probably damaging Het
Gfra3 T C 18: 34,837,591 (GRCm39) T136A probably benign Het
Golga7b T C 19: 42,255,462 (GRCm39) V113A possibly damaging Het
Gpn3 G T 5: 122,520,306 (GRCm39) V102L Het
Herc2 A G 7: 55,820,338 (GRCm39) N2859S possibly damaging Het
Hpd A T 5: 123,318,948 (GRCm39) probably null Het
Hspg2 C T 4: 137,266,887 (GRCm39) T1964I probably benign Het
Hydin A T 8: 111,220,965 (GRCm39) T1454S probably benign Het
Jak3 A G 8: 72,131,366 (GRCm39) D77G probably damaging Het
Kcnj4 G T 15: 79,369,220 (GRCm39) F253L possibly damaging Het
Kidins220 T A 12: 25,106,895 (GRCm39) D1358E probably benign Het
Klf1 C A 8: 85,630,061 (GRCm39) C295* probably null Het
Kmt2a C T 9: 44,760,102 (GRCm39) W582* probably null Het
Lrig2 A G 3: 104,371,556 (GRCm39) C716R probably damaging Het
Lrp1b C T 2: 40,765,004 (GRCm39) D2941N Het
Lrpprc A T 17: 85,020,262 (GRCm39) V1141E probably damaging Het
Mrgprx1 C T 7: 47,671,273 (GRCm39) G158D probably benign Het
Muc5b C A 7: 141,409,279 (GRCm39) A1121D unknown Het
Nf1 G T 11: 79,334,733 (GRCm39) V852L probably damaging Het
Nlrp5 A G 7: 23,118,286 (GRCm39) E670G probably benign Het
Notch4 A G 17: 34,784,601 (GRCm39) T101A probably benign Het
Or10a49 T C 7: 108,467,563 (GRCm39) Y266C probably damaging Het
Or2t35 T A 14: 14,407,963 (GRCm38) I245K probably benign Het
Or5b123 G A 19: 13,597,365 (GRCm39) V237I probably benign Het
P2rx2 T C 5: 110,488,172 (GRCm39) T461A probably benign Het
Pank1 G A 19: 34,799,194 (GRCm39) T419I probably damaging Het
Patz1 T C 11: 3,244,562 (GRCm39) V481A unknown Het
Pdlim5 A G 3: 142,018,058 (GRCm39) L179P probably benign Het
Pik3ap1 A T 19: 41,296,967 (GRCm39) V461D probably damaging Het
Polq T C 16: 36,848,176 (GRCm39) V261A probably damaging Het
Ppm1a G A 12: 72,837,451 (GRCm39) V333M possibly damaging Het
R3hcc1l T C 19: 42,552,671 (GRCm39) L556P probably benign Het
Rabggta G A 14: 55,956,375 (GRCm39) Q365* probably null Het
Ranbp9 T C 13: 43,578,519 (GRCm39) T185A probably benign Het
Rd3l T G 12: 111,945,913 (GRCm39) N189H probably damaging Het
Rnf17 A G 14: 56,722,636 (GRCm39) T1066A probably damaging Het
Rnf213 G A 11: 119,332,794 (GRCm39) A2669T Het
Ros1 T A 10: 51,996,931 (GRCm39) H1268L probably benign Het
Rps6ka4 G T 19: 6,809,354 (GRCm39) S433R possibly damaging Het
Ryr1 A G 7: 28,759,092 (GRCm39) L3362P probably damaging Het
Setd1b A T 5: 123,298,046 (GRCm39) T1361S unknown Het
Setd2 T C 9: 110,377,570 (GRCm39) S462P probably damaging Het
Sgsm3 A T 15: 80,890,935 (GRCm39) Q132L probably benign Het
Slx1b C A 7: 126,291,698 (GRCm39) R122L probably damaging Het
Sorbs2 A T 8: 46,276,788 (GRCm39) T1167S probably benign Het
Spdya A C 17: 71,869,513 (GRCm39) T103P probably damaging Het
Stfa2 A G 16: 36,228,638 (GRCm39) S20P probably benign Het
Sulf1 A G 1: 12,891,026 (GRCm39) T400A probably benign Het
Tardbp A T 4: 148,709,751 (GRCm39) D23E probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tgm1 C T 14: 55,948,441 (GRCm39) D237N probably benign Het
Tgs1 T A 4: 3,585,964 (GRCm39) N280K probably benign Het
Tmem198 A T 1: 75,459,272 (GRCm39) I76F possibly damaging Het
Trpv2 A T 11: 62,475,385 (GRCm39) Y266F probably damaging Het
Ttn C T 2: 76,569,845 (GRCm39) G27016E probably damaging Het
Ttn T C 2: 76,781,824 (GRCm39) E1074G unknown Het
Unc5b A T 10: 60,613,322 (GRCm39) W305R probably damaging Het
Usp38 A G 8: 81,741,164 (GRCm39) probably benign Het
Vmn1r79 A G 7: 11,910,582 (GRCm39) T155A probably benign Het
Vwce G A 19: 10,615,481 (GRCm39) V121I probably benign Het
Wdr91 A T 6: 34,865,961 (GRCm39) D530E probably benign Het
Wnt4 A G 4: 137,023,929 (GRCm39) T299A probably benign Het
Yeats2 T A 16: 20,047,491 (GRCm39) Y1284* probably null Het
Zfp113 A T 5: 138,148,888 (GRCm39) Y85* probably null Het
Zfp184 A G 13: 22,144,096 (GRCm39) T601A probably benign Het
Zfp655 A G 5: 145,180,442 (GRCm39) E100G 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
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
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'- ACTTTCCCTATGTGGAGCTGTG -3'
(R):5'- CCGTGGTACTTGATGACAGG -3'

Sequencing Primer
(F):5'- CCTATGTGGAGCTGTGGGACC -3'
(R):5'- GTACTTGATGACAGGGAGGTC -3'
Posted On 2022-11-14