Mutagenetix > Incidental Mutation

Incidental Mutation 'R6851:Irgm2'

534975

Institutional Source

Beutler Lab

Gene Symbol

Irgm2

Ensembl Gene

ENSMUSG00000069874

Gene Name

immunity-related GTPase family M member 2

Synonyms

Iigp2, Gtpi

MMRRC Submission

044955-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6851 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58105803-58113609 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58110641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 123 (S123P)

Ref Sequence

ENSEMBL: ENSMUSP00000146805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058704] [ENSMUST00000108836] [ENSMUST00000209079]

AlphaFold

A0A140LIF8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058704
AA Change: S111P

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874
AA Change: S111P

Domain	Start	End	E-Value	Type
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: S111P

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104464
Gene: ENSMUSG00000069874
AA Change: S111P

Domain	Start	End	E-Value	Type
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: S123P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (41/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,623,345 (GRCm39)	C856S	probably benign	Het
Arrdc2	T	C	8: 71,291,369 (GRCm39)	E153G	probably damaging	Het
Cacna1d	T	C	14: 29,764,739 (GRCm39)	D2033G	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Cracr2a	A	T	6: 127,585,679 (GRCm39)	D159V	probably damaging	Het
Defa35	T	C	8: 21,555,146 (GRCm39)	I22T	possibly damaging	Het
Dgke	T	C	11: 88,943,309 (GRCm39)	T227A	probably benign	Het
Efcab3	G	A	11: 104,896,521 (GRCm39)	R4290K	probably benign	Het
Firrm	G	A	1: 163,792,336 (GRCm39)	R554C	probably damaging	Het
Galnt10	G	A	11: 57,656,458 (GRCm39)	R214Q	probably damaging	Het
Gpr180	T	C	14: 118,391,037 (GRCm39)	Y189H	probably damaging	Het
Hadh	A	G	3: 131,065,620 (GRCm39)	S13P	possibly damaging	Het
Hcn2	T	A	10: 79,564,947 (GRCm39)		probably null	Het
Kcnv1	T	A	15: 44,972,594 (GRCm39)	I430F	probably damaging	Het
Kif13b	G	A	14: 65,010,514 (GRCm39)	C1271Y	probably damaging	Het
Klhdc3	A	T	17: 46,989,218 (GRCm39)	I48N	possibly damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Mprip	T	A	11: 59,649,841 (GRCm39)	W1182R	probably damaging	Het
Mycbp2	A	T	14: 103,497,630 (GRCm39)		probably null	Het
Or12e1	T	A	2: 87,022,813 (GRCm39)	S261T	probably benign	Het
Or1j11	T	A	2: 36,311,832 (GRCm39)	C141S	probably damaging	Het
Or8b51	A	G	9: 38,569,481 (GRCm39)	V69A	probably benign	Het
Or8h9	T	C	2: 86,789,611 (GRCm39)	T64A	possibly damaging	Het
Or9m1b	T	A	2: 87,836,300 (GRCm39)	H265L	probably damaging	Het
Osbpl8	T	A	10: 111,106,479 (GRCm39)	Y295*	probably null	Het
Pex5	A	G	6: 124,380,113 (GRCm39)	S275P	possibly damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Sele	G	T	1: 163,881,521 (GRCm39)	G543C	probably damaging	Het
Serpina3k	A	C	12: 104,311,625 (GRCm39)	Y401S	probably benign	Het
Slc13a4	A	G	6: 35,278,668 (GRCm39)	S74P	probably damaging	Het
Spata31d1a	A	G	13: 59,851,725 (GRCm39)	L114P	unknown	Het
Syne1	G	T	10: 5,212,703 (GRCm39)	C3295*	probably null	Het
Tepsin	G	T	11: 119,987,787 (GRCm39)	H44N	probably damaging	Het
Tpp1	A	T	7: 105,398,919 (GRCm39)	V170E	probably damaging	Het
Trav3-1	T	C	14: 52,818,428 (GRCm39)	V34A	probably damaging	Het
Tsbp1	A	T	17: 34,679,146 (GRCm39)	Y303F	possibly damaging	Het
Ush2a	T	C	1: 188,265,402 (GRCm39)	V1642A	probably benign	Het
Vmn1r122	A	G	7: 20,867,845 (GRCm39)	I70T	probably benign	Het
Vmn2r96	A	G	17: 18,802,800 (GRCm39)	M237V	possibly damaging	Het
Wdr75	A	G	1: 45,862,587 (GRCm39)	E802G	probably benign	Het
Zan	G	A	5: 137,394,453 (GRCm39)	T4462I	unknown	Het

Other mutations in Irgm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TCATTAAGAGAATTGAGACTGCCG -3'
(R):5'- CATGGTTATGGCCAGCTTCAC -3'

Sequencing Primer
(F):5'- TTGAGACTGCCGTGAAAGAAG -3'
(R):5'- GGCCAGCTTCACATGATTTAAGCTG -3'

Posted On

2018-09-12