Mutagenetix > Incidental Mutation

Incidental Mutation 'R8955:Irag2'

681920

Institutional Source

Beutler Lab

Gene Symbol

Irag2

Ensembl Gene

ENSMUSG00000030263

Gene Name

inositol 1,4,5-triphosphate receptor associated 2

Synonyms

Jaw1, Lrmp, D6Int7, D6Int8, D6Int5, D6Int4, D6Int3

MMRRC Submission

068791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8955 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145061379-145120660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 145117390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 376 (M376L)

Ref Sequence

ENSEMBL: ENSMUSP00000032396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032396] [ENSMUST00000060797] [ENSMUST00000111728] [ENSMUST00000135984] [ENSMUST00000204105]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032396
AA Change: M376L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263
AA Change: M376L

Domain	Start	End	E-Value	Type
Pfam:MRVI1	10	539	3.2e-265	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060797

SMART Domains

Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC
Pfam:Casc1_N	29	229	5.5e-61	PFAM
Pfam:Casc1	241	469	3.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111728

SMART Domains

Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541

Domain	Start	End	E-Value	Type
coiled coil region	1	45	N/A	INTRINSIC
Pfam:Casc1	228	456	6.1e-15	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263
AA Change: M340L

Domain	Start	End	E-Value	Type
Pfam:MRVI1	8	504	3.7e-248	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135984

Predicted Effect

probably benign
Transcript: ENSMUST00000204105

SMART Domains

Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC
Pfam:Casc1_N	29	229	3.4e-57	PFAM
Pfam:Casc1	241	469	2.3e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encode dby this gene is expressed in a developmentally regulated manner in lymphoid cell lines and tissues. The protein is localized to the cytoplasmic face of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	T	15: 64,576,554 (GRCm39)	V1003I	possibly damaging	Het
Adgra3	T	A	5: 50,118,731 (GRCm39)	Y939F	probably benign	Het
Adra2b	T	C	2: 127,205,504 (GRCm39)	V2A	probably benign	Het
Aga	T	A	8: 53,974,164 (GRCm39)	Y296N	possibly damaging	Het
Apc	A	G	18: 34,401,370 (GRCm39)	Q52R	probably damaging	Het
Arfgef1	A	T	1: 10,270,062 (GRCm39)	S362R	probably benign	Het
Arhgef7	C	T	8: 11,808,451 (GRCm39)		probably benign	Het
Bmp5	A	T	9: 75,805,835 (GRCm39)	M446L	probably damaging	Het
Carmil3	C	T	14: 55,733,534 (GRCm39)	T350I	probably damaging	Het
Cd44	T	A	2: 102,683,363 (GRCm39)	T224S	probably damaging	Het
Cep112	A	T	11: 108,643,260 (GRCm39)	I7F	possibly damaging	Het
Chrna2	G	A	14: 66,379,681 (GRCm39)	A7T	probably benign	Het
Cldn16	G	A	16: 26,301,270 (GRCm39)	V193I	probably benign	Het
Clec4a3	G	A	6: 122,943,479 (GRCm39)	E100K	possibly damaging	Het
Cntln	C	T	4: 84,986,110 (GRCm39)	T1026I	possibly damaging	Het
Cyp4v3	T	A	8: 45,761,564 (GRCm39)	I420F	probably benign	Het
Dcbld2	G	A	16: 58,271,125 (GRCm39)	A301T		Het
Dnah1	A	T	14: 31,007,950 (GRCm39)	D2152E	probably benign	Het
Dpy19l4	A	G	4: 11,290,195 (GRCm39)	V179A	probably benign	Het
Dusp4	T	A	8: 35,284,462 (GRCm39)	I259N	probably damaging	Het
Enpp1	T	A	10: 24,544,926 (GRCm39)	I318F	probably benign	Het
Entpd6	T	C	2: 150,595,005 (GRCm39)	V15A	possibly damaging	Het
Epb41l1	C	G	2: 156,363,923 (GRCm39)	Q811E	probably benign	Het
Epb41l5	T	C	1: 119,570,292 (GRCm39)	H32R	probably damaging	Het
Fam135b	C	T	15: 71,334,063 (GRCm39)	V1044I	possibly damaging	Het
Fat4	A	T	3: 39,037,778 (GRCm39)	H3810L	probably benign	Het
Fbxw28	T	A	9: 109,167,857 (GRCm39)		probably null	Het
Flnb	T	G	14: 7,892,874 (GRCm38)	V648G	probably damaging	Het
Flnb	T	A	14: 7,904,688 (GRCm38)	Y1030*	probably null	Het
Fndc3a	T	C	14: 72,794,410 (GRCm39)	T787A	probably benign	Het
Gli2	T	A	1: 118,783,187 (GRCm39)	H106L	probably damaging	Het
Gm10283	T	A	8: 60,954,390 (GRCm39)		probably null	Het
Gm3336	C	T	8: 71,174,545 (GRCm39)	R67*	probably null	Het
Gsr	T	G	8: 34,183,936 (GRCm39)	I399M	possibly damaging	Het
Gtf2ird2	T	A	5: 134,245,596 (GRCm39)	M618K	probably damaging	Het
Gtf3c3	T	A	1: 54,462,722 (GRCm39)	D347V	probably benign	Het
Hspa12a	T	C	19: 58,788,058 (GRCm39)	Y588C	probably damaging	Het
Il20ra	A	G	10: 19,635,160 (GRCm39)	E467G	possibly damaging	Het
Inf2	A	G	12: 112,576,998 (GRCm39)	I991V	unknown	Het
Irx6	T	C	8: 93,405,040 (GRCm39)	C303R	probably damaging	Het
Kcnmb4	T	A	10: 116,309,381 (GRCm39)	K16*	probably null	Het
Kirrel3	T	C	9: 34,855,738 (GRCm39)	L86P	probably damaging	Het
Lipo5	A	C	19: 33,450,530 (GRCm39)	F21V		Het
Lrrc31	T	A	3: 30,733,267 (GRCm39)	R482S	probably benign	Het
Lrrc3b	C	T	14: 15,358,159 (GRCm38)	C149Y	probably damaging	Het
Lrrk1	A	G	7: 65,919,573 (GRCm39)	M446T	probably benign	Het
Macroh2a2	A	T	10: 61,593,610 (GRCm39)	I22N	probably damaging	Het
Mettl14	C	T	3: 123,167,693 (GRCm39)	D222N	probably benign	Het
Mfsd4b3-ps	G	A	10: 39,824,072 (GRCm39)	H63Y	probably benign	Het
Myo16	T	C	8: 10,426,175 (GRCm39)	W311R	probably damaging	Het
Nccrp1	A	T	7: 28,245,628 (GRCm39)	N151K	probably benign	Het
Obsl1	T	C	1: 75,480,493 (GRCm39)	D377G	probably damaging	Het
Or5b97	T	A	19: 12,878,578 (GRCm39)	T189S	probably benign	Het
Or5p80	T	A	7: 108,229,506 (GRCm39)	C102*	probably null	Het
Or7c19	T	A	8: 85,957,913 (GRCm39)	I263N	probably benign	Het
Or7c70	G	T	10: 78,683,576 (GRCm39)	P58T	probably damaging	Het
Pigb	T	C	9: 72,945,983 (GRCm39)	N63S	probably damaging	Het
Plch2	T	C	4: 155,077,023 (GRCm39)	E577G	probably benign	Het
Prkab2	T	C	3: 97,573,943 (GRCm39)	V194A	probably benign	Het
Psd3	T	C	8: 68,416,461 (GRCm39)	I479V	probably benign	Het
Ralgapb	C	A	2: 158,279,264 (GRCm39)	P117T	probably benign	Het
Ralgapb	C	G	2: 158,337,389 (GRCm39)	T1116R	probably damaging	Het
Rpap2	T	A	5: 107,768,361 (GRCm39)	S400T	possibly damaging	Het
Rpgrip1l	C	A	8: 92,007,456 (GRCm39)	W378L	possibly damaging	Het
Rps20	T	A	4: 3,834,617 (GRCm39)	M82L	probably benign	Het
Rps5	T	C	7: 12,659,440 (GRCm39)	M77T	possibly damaging	Het
Scaf11	A	G	15: 96,318,371 (GRCm39)	S398P	probably damaging	Het
Sdf2	T	A	11: 78,145,763 (GRCm39)	D153E	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc12a9	T	C	5: 137,329,270 (GRCm39)	N128S	probably damaging	Het
Slc25a32	C	A	15: 38,960,946 (GRCm39)	G246C	probably damaging	Het
Slc38a4	C	T	15: 96,914,662 (GRCm39)	A64T	probably benign	Het
Slit3	T	C	11: 35,589,207 (GRCm39)	V1254A	probably damaging	Het
Slx4	T	C	16: 3,808,111 (GRCm39)	K481R	probably benign	Het
Tcea1	A	G	1: 4,959,732 (GRCm39)	T136A	probably benign	Het
Thra	A	G	11: 98,644,449 (GRCm39)	D13G	possibly damaging	Het
Tmed9	G	A	13: 55,744,775 (GRCm39)	S227N	probably benign	Het
Trim80	C	A	11: 115,331,538 (GRCm39)	T20K	probably benign	Het
Trmt61a	G	T	12: 111,649,256 (GRCm39)	V276L	probably benign	Het
Trpc4ap	T	C	2: 155,508,171 (GRCm39)	D160G	possibly damaging	Het
Ubr5	C	T	15: 38,029,825 (GRCm39)	E467K		Het
Vars2	C	A	17: 35,972,541 (GRCm39)	G26W	probably damaging	Het
Vmn1r226	G	T	17: 20,908,287 (GRCm39)	R173L	possibly damaging	Het
Vmn1r29	G	T	6: 58,284,284 (GRCm39)	M1I	probably null	Het
Vmn2r3	G	T	3: 64,168,803 (GRCm39)	P578Q	possibly damaging	Het
Vmn2r57	A	T	7: 41,049,571 (GRCm39)	I726N	possibly damaging	Het
Zfp39	A	T	11: 58,780,946 (GRCm39)	Y605*	probably null	Het

Other mutations in Irag2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Irag2	APN	6	145,113,720 (GRCm39)	missense	probably damaging	1.00
IGL01066:Irag2	APN	6	145,106,681 (GRCm39)	missense	probably damaging	1.00
IGL01877:Irag2	APN	6	145,093,525 (GRCm39)	missense	probably damaging	0.99
IGL02154:Irag2	APN	6	145,083,967 (GRCm39)	missense	possibly damaging	0.92
IGL02727:Irag2	APN	6	145,120,344 (GRCm39)	missense	possibly damaging	0.78
FR4976:Irag2	UTSW	6	145,119,511 (GRCm39)	unclassified	probably benign
R0238:Irag2	UTSW	6	145,117,704 (GRCm39)	unclassified	probably benign
R0239:Irag2	UTSW	6	145,117,704 (GRCm39)	unclassified	probably benign
R0454:Irag2	UTSW	6	145,113,710 (GRCm39)	missense	possibly damaging	0.73
R0485:Irag2	UTSW	6	145,110,938 (GRCm39)	missense	probably damaging	1.00
R0487:Irag2	UTSW	6	145,110,986 (GRCm39)	missense	probably benign	0.02
R0554:Irag2	UTSW	6	145,111,013 (GRCm39)	missense	probably benign	0.01
R0634:Irag2	UTSW	6	145,120,354 (GRCm39)	missense	probably damaging	0.98
R1440:Irag2	UTSW	6	145,120,237 (GRCm39)	missense	possibly damaging	0.77
R1574:Irag2	UTSW	6	145,104,356 (GRCm39)	splice site	probably benign
R1697:Irag2	UTSW	6	145,083,341 (GRCm39)	splice site	probably benign
R1968:Irag2	UTSW	6	145,115,499 (GRCm39)	missense	probably damaging	0.98
R3735:Irag2	UTSW	6	145,106,596 (GRCm39)	splice site	probably benign
R3736:Irag2	UTSW	6	145,106,596 (GRCm39)	splice site	probably benign
R4643:Irag2	UTSW	6	145,113,786 (GRCm39)	missense	probably benign	0.17
R4812:Irag2	UTSW	6	145,093,737 (GRCm39)	missense	probably damaging	1.00
R4916:Irag2	UTSW	6	145,111,027 (GRCm39)	missense	probably damaging	1.00
R5183:Irag2	UTSW	6	145,083,946 (GRCm39)	missense	probably benign	0.23
R5845:Irag2	UTSW	6	145,117,392 (GRCm39)	missense	probably benign	0.00
R6701:Irag2	UTSW	6	145,090,702 (GRCm39)	nonsense	probably null
R6735:Irag2	UTSW	6	145,106,619 (GRCm39)	missense	probably damaging	1.00
R7083:Irag2	UTSW	6	145,115,509 (GRCm39)	missense	probably damaging	1.00
R7317:Irag2	UTSW	6	145,104,424 (GRCm39)	missense	possibly damaging	0.93
R7468:Irag2	UTSW	6	145,119,427 (GRCm39)	splice site	probably null
R8429:Irag2	UTSW	6	145,110,949 (GRCm39)	missense	probably damaging	1.00
R8485:Irag2	UTSW	6	145,117,400 (GRCm39)	missense	probably damaging	1.00
R8779:Irag2	UTSW	6	145,083,925 (GRCm39)	missense	probably benign	0.00
R9034:Irag2	UTSW	6	145,083,273 (GRCm39)	missense	probably benign
R9487:Irag2	UTSW	6	145,120,257 (GRCm39)	missense	probably benign	0.00
R9488:Irag2	UTSW	6	145,113,753 (GRCm39)	missense	probably damaging	1.00
R9676:Irag2	UTSW	6	145,120,338 (GRCm39)	missense	probably damaging	1.00
RF003:Irag2	UTSW	6	145,119,509 (GRCm39)	unclassified	probably benign
RF015:Irag2	UTSW	6	145,119,509 (GRCm39)	unclassified	probably benign
RF017:Irag2	UTSW	6	145,119,510 (GRCm39)	unclassified	probably benign
RF027:Irag2	UTSW	6	145,119,516 (GRCm39)	unclassified	probably benign
RF029:Irag2	UTSW	6	145,119,516 (GRCm39)	unclassified	probably benign
RF030:Irag2	UTSW	6	145,119,516 (GRCm39)	unclassified	probably benign
RF030:Irag2	UTSW	6	145,119,514 (GRCm39)	unclassified	probably benign
RF038:Irag2	UTSW	6	145,119,516 (GRCm39)	unclassified	probably benign
RF043:Irag2	UTSW	6	145,119,516 (GRCm39)	unclassified	probably benign
RF044:Irag2	UTSW	6	145,119,516 (GRCm39)	unclassified	probably benign
RF048:Irag2	UTSW	6	145,119,510 (GRCm39)	unclassified	probably benign
RF052:Irag2	UTSW	6	145,106,257 (GRCm39)	critical splice acceptor site	probably benign
RF054:Irag2	UTSW	6	145,119,514 (GRCm39)	unclassified	probably benign
RF055:Irag2	UTSW	6	145,119,511 (GRCm39)	unclassified	probably benign
Z1177:Irag2	UTSW	6	145,093,800 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGTAGCCATCTTCTCTTCG -3'
(R):5'- CTGCCTAAGTCAGTGCAGAAACC -3'

Sequencing Primer
(F):5'- TTCGAAGAGTGACCATTGCC -3'
(R):5'- GTGCAGAAACCACACTGTCTTG -3'

Posted On

2021-08-31