Mutagenetix > Incidental Mutation

Incidental Mutation 'R5804:Ager'

448428

Institutional Source

Beutler Lab

Gene Symbol

Ager

Ensembl Gene

ENSMUSG00000015452

Gene Name

advanced glycosylation end product-specific receptor

Synonyms

RAGE

MMRRC Submission

043211-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R5804 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34816836-34819910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34817157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 32 (E32G)

Ref Sequence

ENSEMBL: ENSMUSP00000134401 (fasta)

Gene Model

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

AlphaFold

Q62151

Predicted Effect

probably damaging
Transcript: ENSMUST00000015596
AA Change: E32G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452
AA Change: E32G

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: ENSMUST00000174069
AA Change: E32G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452
AA Change: E32G

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: ENSMUST00000173589

SMART Domains

Protein: ENSMUSP00000133845
Gene: ENSMUSG00000015452

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173992
AA Change: E32G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452
AA Change: E32G

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: E32G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452
AA Change: E32G

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

noncoding transcript
Transcript: ENSMUST00000174554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174045

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: 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

noncoding transcript
Transcript: ENSMUST00000184846

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	T	16: 8,396,100 (GRCm39)	R19*	probably null	Het
Abcb9	A	G	5: 124,218,118 (GRCm39)	M406T	probably benign	Het
Cdk10	T	A	8: 123,955,579 (GRCm39)		probably null	Het
Cfap97d1	A	G	11: 101,881,640 (GRCm39)	N112S	probably damaging	Het
Ctsl	A	T	13: 64,514,302 (GRCm39)	Y259N	probably damaging	Het
Ctu2	T	C	8: 123,207,965 (GRCm39)		probably null	Het
Dse	T	A	10: 34,029,375 (GRCm39)	I572F	possibly damaging	Het
Flt1	A	T	5: 147,517,247 (GRCm39)		probably null	Het
Gatm	T	A	2: 122,433,083 (GRCm39)	Y193F	probably benign	Het
Gpaa1	T	C	15: 76,216,826 (GRCm39)	F170S	probably damaging	Het
Grm3	A	G	5: 9,620,155 (GRCm39)	L363P	probably benign	Het
Heatr5b	G	A	17: 79,138,951 (GRCm39)	P64S	probably damaging	Het
Hfm1	A	G	5: 107,026,455 (GRCm39)		probably null	Het
Hivep2	A	C	10: 14,009,519 (GRCm39)	K1725N	probably benign	Het
Hmcn1	A	T	1: 150,550,098 (GRCm39)	C2695*	probably null	Het
Hmgcr	G	A	13: 96,802,695 (GRCm39)	T68M	probably damaging	Het
Igsf21	A	T	4: 139,755,385 (GRCm39)	D423E	possibly damaging	Het
Jag1	T	C	2: 136,930,124 (GRCm39)	N751S	probably benign	Het
Klrc2	A	T	6: 129,637,436 (GRCm39)	N28K	possibly damaging	Het
Lrrc8c	A	T	5: 105,727,423 (GRCm39)	D29V	possibly damaging	Het
Mtcl1	A	C	17: 66,650,132 (GRCm39)	S1329A	probably benign	Het
Nin	C	T	12: 70,092,375 (GRCm39)	V645I	possibly damaging	Het
Or4c127	T	C	2: 89,833,332 (GRCm39)	I194T	possibly damaging	Het
Or51i1	T	C	7: 103,671,439 (GRCm39)	I29V	probably benign	Het
Or8s2	T	A	15: 98,276,215 (GRCm39)	M259L	probably benign	Het
Or9g4	T	A	2: 85,504,682 (GRCm39)	D271V	probably damaging	Het
Pfpl	A	T	19: 12,407,027 (GRCm39)	H426L	probably benign	Het
Poteg	A	G	8: 27,946,826 (GRCm39)	D238G	probably damaging	Het
Psen1	T	C	12: 83,778,474 (GRCm39)	F386L	probably damaging	Het
Rassf9	A	T	10: 102,380,905 (GRCm39)	I96F	probably damaging	Het
Robo1	T	C	16: 72,840,077 (GRCm39)		probably null	Het
Slc16a4	A	T	3: 107,206,280 (GRCm39)	M117L	probably benign	Het
Slc4a8	A	G	15: 100,689,506 (GRCm39)	N372S	possibly damaging	Het
Stmn4	G	A	14: 66,593,748 (GRCm39)	G47D	probably benign	Het
Tex26	A	G	5: 149,386,612 (GRCm39)	N137S	possibly damaging	Het
Ttn	T	A	2: 76,747,163 (GRCm39)	I4629F	probably benign	Het
Ubash3a	G	A	17: 31,427,206 (GRCm39)		probably null	Het
Ube3d	T	C	9: 86,307,401 (GRCm39)	I233V	probably benign	Het
Utrn	T	A	10: 12,297,369 (GRCm39)	T680S	probably damaging	Het
Vps13d	G	A	4: 144,826,640 (GRCm39)	T2846I	probably benign	Het
Zbtb22	TGGACCCGGGAC	TGGACCCGGGACCCGGGAC	17: 34,137,593 (GRCm39)		probably null	Het
Zfp41	C	T	15: 75,490,557 (GRCm39)	P170S	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCTCTATGGGGTGAGACAC -3'
(R):5'- GGACCTTCCAAGCTTCAGTTC -3'

Sequencing Primer
(F):5'- GTGAGACACTCCCAGCCC -3'
(R):5'- CTTCCTGTGTTCTGTGAAGAAGAG -3'

Posted On

2016-12-15