Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02143:Ager'

281683

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ager

Ensembl Gene

ENSMUSG00000015452

Gene Name

advanced glycosylation end product-specific receptor

Synonyms

RAGE

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL02143

Quality Score

Status

Chromosome

Chromosomal Location

34816836-34819910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34818092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 183 (G183E)

Ref Sequence

ENSEMBL: ENSMUSP00000134401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015596] [ENSMUST00000015622] [ENSMUST00000038149] [ENSMUST00000173992] [ENSMUST00000174496] [ENSMUST00000174069] [ENSMUST00000174532] [ENSMUST00000183827] [ENSMUST00000173328]

AlphaFold

Q62151

Predicted Effect

probably damaging
Transcript: ENSMUST00000015596
AA Change: G183E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452
AA Change: G183E

Domain	Start	End	E-Value	Type
IG	23	117	2.44e-7	SMART
Pfam:C2-set_2	123	217	4.3e-24	PFAM
IGc2	248	306	7.63e-18	SMART
transmembrane domain	339	361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000015622

SMART Domains

Protein: ENSMUSP00000015622
Gene: ENSMUSG00000015478

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
RING	27	67	1.5e-8	SMART
transmembrane domain	118	140	N/A	INTRINSIC
transmembrane domain	160	179	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038149

SMART Domains

Protein: ENSMUSP00000040464
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
low complexity region	7	49	N/A	INTRINSIC
Pfam:PBC	50	243	1.3e-97	PFAM
HOX	244	309	1.9e-18	SMART
low complexity region	327	353	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172932

SMART Domains

Protein: ENSMUSP00000133660
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173229

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173992
AA Change: G174E

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452
AA Change: G174E

Domain	Start	End	E-Value	Type
IG	23	108	3.23e-7	SMART
Pfam:C2-set_2	114	208	3.3e-24	PFAM
IGc2	239	297	7.63e-18	SMART
transmembrane domain	321	343	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174496
AA Change: G183E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452
AA Change: G183E

Domain	Start	End	E-Value	Type
IG	23	117	2.44e-7	SMART
Pfam:C2-set_2	123	217	3.4e-24	PFAM
IGc2	248	306	7.63e-18	SMART
transmembrane domain	330	352	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174069
AA Change: G183E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452
AA Change: G183E

Domain	Start	End	E-Value	Type
IG	23	117	2.44e-7	SMART
Pfam:C2-set_2	123	217	2.5e-24	PFAM
IGc2	248	306	7.63e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173551

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173589

SMART Domains

Protein: ENSMUSP00000133845
Gene: ENSMUSG00000015452

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174045

Predicted Effect

probably benign
Transcript: ENSMUST00000174532

SMART Domains

Protein: ENSMUSP00000133744
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
Pfam:PBC	1	148	3.5e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183827

SMART Domains

Protein: ENSMUSP00000139079
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
Pfam:PBC	1	183	9.5e-98	PFAM
HOX	184	249	1.9e-18	SMART
low complexity region	267	293	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173328

SMART Domains

Protein: ENSMUSP00000133766
Gene: ENSMUSG00000034673

Domain	Start	End	E-Value	Type
Pfam:PBC	1	161	5e-84	PFAM
HOX	162	227	1.9e-18	SMART
low complexity region	245	271	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184846

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]
PHENOTYPE: Homozygotes for a null allele show increased bone mass and strength, reduced osteoclast number, abnormal blood vessel healing, and altered development of nephropathy and pain perception in induced diabetes. Homozygotes for another null allele show restored diabetes-induced angiogenic responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,194,278 (GRCm39)	M1T	probably null	Het
Alcam	C	A	16: 52,125,982 (GRCm39)	V112L	probably damaging	Het
Amot	T	A	X: 144,270,024 (GRCm39)	Q204H	probably damaging	Het
Ankar	C	T	1: 72,697,808 (GRCm39)		probably null	Het
Armc9	A	G	1: 86,104,587 (GRCm39)	M279V	possibly damaging	Het
Bpifb1	C	T	2: 154,051,849 (GRCm39)	T218I	probably benign	Het
Cacna1f	A	C	X: 7,480,234 (GRCm39)		probably benign	Het
Cacna2d2	T	C	9: 107,395,474 (GRCm39)		probably null	Het
Ccdc57	A	T	11: 120,752,069 (GRCm39)	C837*	probably null	Het
Ctbp2	G	A	7: 132,592,885 (GRCm39)	A808V	probably damaging	Het
Dcbld2	T	C	16: 58,268,889 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,328,754 (GRCm39)		probably benign	Het
Disp2	T	C	2: 118,620,450 (GRCm39)	F394S	probably damaging	Het
Dnah1	T	C	14: 31,005,246 (GRCm39)	N2336S	probably damaging	Het
Drap1	C	A	19: 5,473,871 (GRCm39)	L66F	probably damaging	Het
Eif5a2	C	T	3: 28,847,888 (GRCm39)	R109C	probably benign	Het
Enpp1	A	T	10: 24,553,872 (GRCm39)	D105E	probably damaging	Het
Evi5l	G	A	8: 4,241,293 (GRCm39)	M275I	probably damaging	Het
Flt1	T	C	5: 147,515,246 (GRCm39)	T1059A	probably benign	Het
Fndc3c1	T	C	X: 105,516,340 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,396,813 (GRCm39)	V645A	possibly damaging	Het
Gm7735	T	A	16: 88,966,437 (GRCm39)	C20*	probably null	Het
Ighv1-42	G	T	12: 114,900,906 (GRCm39)	P60T	probably benign	Het
Jakmip2	A	T	18: 43,696,350 (GRCm39)	L533Q	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Lpin2	T	C	17: 71,550,921 (GRCm39)	S694P	probably damaging	Het
Mab21l2	C	T	3: 86,454,562 (GRCm39)	R146Q	possibly damaging	Het
Mmp1b	A	T	9: 7,386,400 (GRCm39)	S174T	probably benign	Het
Neb	T	C	2: 52,181,211 (GRCm39)	Y1132C	probably damaging	Het
Nhsl1	A	T	10: 18,387,383 (GRCm39)	H219L	possibly damaging	Het
Nwd2	T	A	5: 63,948,996 (GRCm39)		probably null	Het
Obp1a	A	C	X: 77,134,449 (GRCm39)	M18R	possibly damaging	Het
Or13a19	A	T	7: 139,903,505 (GRCm39)	K298*	probably null	Het
Or2ag13	T	C	7: 106,473,180 (GRCm39)	T91A	probably benign	Het
Pabpc5	T	A	X: 118,837,688 (GRCm39)	M1K	probably null	Het
Paxip1	A	G	5: 27,980,596 (GRCm39)		probably benign	Het
Perm1	A	G	4: 156,302,500 (GRCm39)	E348G	probably benign	Het
Pfkfb1	T	C	X: 149,405,138 (GRCm39)	F170L	probably damaging	Het
Pou3f3	A	G	1: 42,737,686 (GRCm39)	M461V	probably benign	Het
Ppfia2	G	A	10: 106,693,360 (GRCm39)	D622N	probably damaging	Het
Prtg	T	G	9: 72,799,606 (GRCm39)	S801R	probably damaging	Het
Rars2	T	A	4: 34,623,404 (GRCm39)		probably benign	Het
Rasal1	A	G	5: 120,790,917 (GRCm39)	D35G	probably damaging	Het
Repin1	T	A	6: 48,574,055 (GRCm39)	L272Q	probably damaging	Het
Spmip5	C	A	19: 58,777,684 (GRCm39)	R34L	possibly damaging	Het
Stk36	T	C	1: 74,655,728 (GRCm39)		probably benign	Het
Tbxa2r	A	G	10: 81,170,320 (GRCm39)	T269A	probably benign	Het
Tmem132c	G	A	5: 127,640,466 (GRCm39)	R879Q	probably benign	Het
Vmn1r78	C	A	7: 11,886,407 (GRCm39)	A6E	probably benign	Het
Vps45	A	T	3: 95,941,133 (GRCm39)	N369K	probably benign	Het
Vps45	T	C	3: 95,926,958 (GRCm39)	I530V	probably benign	Het
Zkscan16	G	A	4: 58,956,911 (GRCm39)	G398R	probably damaging	Het

Other mutations in Ager

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01808:Ager	APN	17	34,818,431 (GRCm39)	missense	probably damaging	0.97
IGL02219:Ager	APN	17	34,819,094 (GRCm39)	missense	probably damaging	0.97
R1337:Ager	UTSW	17	34,819,596 (GRCm39)	critical splice donor site	probably null
R1584:Ager	UTSW	17	34,819,692 (GRCm39)	missense	probably damaging	1.00
R2269:Ager	UTSW	17	34,818,124 (GRCm39)	missense	probably damaging	1.00
R5804:Ager	UTSW	17	34,817,157 (GRCm39)	missense	probably damaging	0.98
R5881:Ager	UTSW	17	34,819,051 (GRCm39)	missense	probably damaging	1.00
R5939:Ager	UTSW	17	34,817,175 (GRCm39)	missense	probably damaging	1.00
R6276:Ager	UTSW	17	34,817,728 (GRCm39)	missense	possibly damaging	0.86
R6551:Ager	UTSW	17	34,818,442 (GRCm39)	splice site	probably null
R7009:Ager	UTSW	17	34,819,710 (GRCm39)	missense	probably damaging	1.00
R8212:Ager	UTSW	17	34,819,586 (GRCm39)	missense	possibly damaging	0.71
R8843:Ager	UTSW	17	34,819,716 (GRCm39)	missense	probably benign	0.03
R9025:Ager	UTSW	17	34,819,594 (GRCm39)	missense	probably damaging	1.00
R9089:Ager	UTSW	17	34,819,579 (GRCm39)	missense	probably benign	0.09
R9237:Ager	UTSW	17	34,816,869 (GRCm39)	start codon destroyed	probably null	0.92
R9357:Ager	UTSW	17	34,817,541 (GRCm39)	missense	probably damaging	0.98
R9665:Ager	UTSW	17	34,819,090 (GRCm39)	missense	probably benign	0.44

Posted On

2015-04-16