Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02219:Ager'

285059

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 #

IGL02219

Quality Score

Status

Chromosome

Chromosomal Location

34816836-34819910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34819094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 314 (V314A)

Ref Sequence

ENSEMBL: ENSMUSP00000134401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015596] [ENSMUST00000015622] [ENSMUST00000038149] [ENSMUST00000174496] [ENSMUST00000173992] [ENSMUST00000174069] [ENSMUST00000173242] [ENSMUST00000173328] [ENSMUST00000183827] [ENSMUST00000174041]

AlphaFold

Q62151

Predicted Effect

probably damaging
Transcript: ENSMUST00000015596
AA Change: V314A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452
AA Change: V314A

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

probably damaging
Transcript: ENSMUST00000174496
AA Change: V314A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452
AA Change: V314A

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: ENSMUST00000173992
AA Change: V305A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452
AA Change: V305A

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: ENSMUST00000174069
AA Change: V314A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452
AA Change: V314A

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: ENSMUST00000174554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174756

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: ENSMUST00000174475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173551

Predicted Effect

probably benign
Transcript: ENSMUST00000173242

SMART Domains

Protein: ENSMUSP00000134242
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
Pfam:Acyltransferase	80	149	1.2e-14	PFAM

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

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: ENSMUST00000174041

SMART Domains

Protein: ENSMUSP00000133441
Gene: ENSMUSG00000034254

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
low complexity region	66	71	N/A	INTRINSIC
PlsC	95	198	6.63e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184805

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	A	T	1: 192,515,691 (GRCm39)		noncoding transcript	Het
Abcb10	G	A	8: 124,681,166 (GRCm39)	H677Y	probably benign	Het
Asxl3	A	G	18: 22,586,683 (GRCm39)	M158V	possibly damaging	Het
Atp1a2	G	A	1: 172,107,298 (GRCm39)	Q741*	probably null	Het
Atp1a2	A	T	1: 172,107,285 (GRCm39)	M745K	probably damaging	Het
Begain	A	G	12: 108,999,656 (GRCm39)	S577P	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Camk2b	A	G	11: 5,926,872 (GRCm39)	L497P	possibly damaging	Het
Cand2	T	A	6: 115,780,773 (GRCm39)	I1219N	probably damaging	Het
Cckbr	T	A	7: 105,083,255 (GRCm39)	Y153N	probably damaging	Het
Cep250	T	G	2: 155,833,514 (GRCm39)	V1812G	probably benign	Het
Cyp2c39	A	T	19: 39,556,643 (GRCm39)		probably benign	Het
Ddx43	T	A	9: 78,324,001 (GRCm39)	M444K	probably damaging	Het
Dnm1	A	T	2: 32,213,462 (GRCm39)	M506K	probably benign	Het
Duox2	A	T	2: 122,125,145 (GRCm39)	H352Q	probably benign	Het
Fcgbpl1	T	C	7: 27,854,060 (GRCm39)	Y1675H	probably damaging	Het
Fsip2	A	G	2: 82,808,174 (GRCm39)	T1498A	probably benign	Het
Gcn1	A	T	5: 115,751,826 (GRCm39)	Q2067L	possibly damaging	Het
Get4	G	T	5: 139,249,384 (GRCm39)		probably null	Het
Gm6370	G	A	5: 146,430,453 (GRCm39)	A213T	possibly damaging	Het
Gpr135	T	C	12: 72,117,047 (GRCm39)	Y240C	probably damaging	Het
Gstm5	T	A	3: 107,805,347 (GRCm39)	L145Q	probably damaging	Het
Hoxb3	T	C	11: 96,236,986 (GRCm39)	Y355H	probably damaging	Het
Hsf2	A	C	10: 57,372,370 (GRCm39)	K108Q	probably damaging	Het
Kdm3a	T	C	6: 71,577,718 (GRCm39)	N694S	probably benign	Het
Lrpap1	G	A	5: 35,253,411 (GRCm39)		probably benign	Het
Mapk8ip3	T	C	17: 25,118,532 (GRCm39)	T1162A	probably damaging	Het
Mettl14	T	C	3: 123,168,540 (GRCm39)		probably benign	Het
Mrgprx1	T	C	7: 47,671,477 (GRCm39)	Y90C	probably benign	Het
Mybpc3	A	T	2: 90,951,368 (GRCm39)		probably null	Het
Nup88	C	T	11: 70,860,518 (GRCm39)	G87D	probably benign	Het
Or5w20	A	G	2: 87,727,317 (GRCm39)	Y258C	possibly damaging	Het
Or7d9	A	T	9: 20,197,756 (GRCm39)	T254S	probably benign	Het
Or9i1	C	T	19: 13,839,187 (GRCm39)	T10M	probably damaging	Het
Pan2	G	A	10: 128,156,221 (GRCm39)	E1133K	probably benign	Het
Pcsk2	T	C	2: 143,635,045 (GRCm39)	S307P	probably damaging	Het
Pdgfa	C	T	5: 138,971,950 (GRCm39)	V150I	probably damaging	Het
Phf12	T	C	11: 77,875,022 (GRCm39)	C83R	probably damaging	Het
Pla2g2c	A	G	4: 138,463,319 (GRCm39)	Y71C	probably damaging	Het
Pou2f2	T	A	7: 24,797,107 (GRCm39)	Q218L	probably damaging	Het
Prl8a9	C	T	13: 27,743,353 (GRCm39)	V151I	possibly damaging	Het
Prop1	T	C	11: 50,842,911 (GRCm39)	D92G	probably damaging	Het
Rnf13	A	G	3: 57,703,644 (GRCm39)	Y116C	probably damaging	Het
Ro60	A	G	1: 143,637,013 (GRCm39)	C400R	possibly damaging	Het
Scrib	T	A	15: 75,936,885 (GRCm39)	K383*	probably null	Het
Slc44a5	T	C	3: 153,944,796 (GRCm39)	Y138H	possibly damaging	Het
Stra6	G	A	9: 58,047,752 (GRCm39)	V108M	probably benign	Het
Tspan10	G	T	11: 120,337,198 (GRCm39)	A323S	probably benign	Het
Ttc22	T	A	4: 106,495,687 (GRCm39)	V347D	probably damaging	Het
Ugt1a10	C	T	1: 87,983,780 (GRCm39)	L193F	probably benign	Het
Vps13d	G	T	4: 144,894,716 (GRCm39)	H457N	probably benign	Het
Vrtn	A	G	12: 84,695,607 (GRCm39)	Y119C	probably damaging	Het
Xpnpep3	T	C	15: 81,311,657 (GRCm39)	F121S	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
IGL02143:Ager	APN	17	34,818,092 (GRCm39)	missense	probably damaging	1.00
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