Mutagenetix > Incidental Mutation

Incidental Mutation 'R6551:Ager'

521650

Institutional Source

Beutler Lab

Gene Symbol

Ager

Ensembl Gene

ENSMUSG00000015452

Gene Name

advanced glycosylation end product-specific receptor

Synonyms

RAGE

MMRRC Submission

044676-MU

Accession Numbers

Essential gene?

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

Stock #

R6551 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34816836-34819910 bp(+) (GRCm39)

Type of Mutation

splice site (3052 bp from exon)

DNA Base Change (assembly)

A to G at 34818442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139079 (fasta)

Gene Model

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

AlphaFold

Q62151

Predicted Effect

probably benign
Transcript: ENSMUST00000015596
AA Change: I270V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452
AA Change: I270V

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 null
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 benign
Transcript: ENSMUST00000173992
AA Change: I261V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452
AA Change: I261V

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 benign
Transcript: ENSMUST00000174069
AA Change: I270V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452
AA Change: I270V

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

probably benign
Transcript: ENSMUST00000174496
AA Change: I270V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452
AA Change: I270V

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: ENSMUST00000173589

SMART Domains

Protein: ENSMUSP00000133845
Gene: ENSMUSG00000015452

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

Predicted Effect

probably null
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: ENSMUST00000174045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173551

Predicted Effect

probably null
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: ENSMUST00000174640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174756

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: ENSMUST00000174554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (41/41)

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
A130010J15Rik	A	T	1: 192,856,831 (GRCm39)	Q61L	probably damaging	Het
Acss2	T	C	2: 155,393,128 (GRCm39)	S285P	probably benign	Het
Alkbh7	T	A	17: 57,305,945 (GRCm39)	Y115*	probably null	Het
Brwd1	T	C	16: 95,795,162 (GRCm39)	D2184G	possibly damaging	Het
Chp1	T	A	2: 119,402,294 (GRCm39)	H89Q	possibly damaging	Het
Clmp	T	C	9: 40,682,573 (GRCm39)	V119A	probably benign	Het
Cryge	A	T	1: 65,087,796 (GRCm39)	M171K	probably benign	Het
Cttnbp2nl	A	T	3: 104,912,433 (GRCm39)	S484T	possibly damaging	Het
Dsg3	C	A	18: 20,672,968 (GRCm39)	P880T	unknown	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Espn	T	C	4: 152,213,223 (GRCm39)			Het
Fbxo31	A	C	8: 122,291,443 (GRCm39)		probably benign	Het
Grin2b	A	G	6: 135,710,342 (GRCm39)	V1068A	probably damaging	Het
Jak1	C	A	4: 101,051,040 (GRCm39)		probably benign	Het
Klra10	A	T	6: 130,252,718 (GRCm39)	D185E	probably benign	Het
Lhx1	A	C	11: 84,412,739 (GRCm39)	D60E	probably benign	Het
Lyar	C	A	5: 38,390,616 (GRCm39)	A326D	probably damaging	Het
Muc16	A	C	9: 18,473,858 (GRCm39)	S1280A	possibly damaging	Het
Nol9	G	A	4: 152,136,325 (GRCm39)	V466I	possibly damaging	Het
Or10d1	C	A	9: 39,483,856 (GRCm39)	R233L	probably benign	Het
Or12e8	T	C	2: 87,677,005 (GRCm39)	V130A	possibly damaging	Het
Or1e17	T	C	11: 73,831,129 (GRCm39)	I19T	probably benign	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or2w3b	A	T	11: 58,623,583 (GRCm39)	M136K	probably damaging	Het
Or2y10	G	T	11: 49,454,816 (GRCm39)	V23L	probably benign	Het
Pik3c2a	A	T	7: 116,016,731 (GRCm39)	I342N	probably damaging	Het
Pnldc1	A	G	17: 13,124,456 (GRCm39)	M133T	probably damaging	Het
Rab11fip1	G	A	8: 27,646,512 (GRCm39)	S188L	probably damaging	Het
Rapgef2	A	T	3: 79,122,342 (GRCm39)		probably null	Het
Rnf103	G	A	6: 71,487,349 (GRCm39)	C660Y	probably damaging	Het
Rph3al	G	A	11: 75,797,372 (GRCm39)	S108F	possibly damaging	Het
Srsf7	A	C	17: 80,511,648 (GRCm39)		probably benign	Het
Ssrp1	A	G	2: 84,871,450 (GRCm39)		probably null	Het
Tamm41	T	C	6: 114,989,142 (GRCm39)	D284G	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem39b	A	G	4: 129,585,896 (GRCm39)	V25A	probably benign	Het
Tmem88b	G	T	4: 155,870,149 (GRCm39)		probably benign	Het
Unk	T	C	11: 115,941,550 (GRCm39)	W266R	probably damaging	Het
Usp8	T	A	2: 126,575,102 (GRCm39)		probably benign	Het
Zbtb48	T	G	4: 152,106,678 (GRCm39)	Q142P	probably benign	Het
Zdhhc18	T	C	4: 133,340,960 (GRCm39)	T267A	probably benign	Het
Zfp335	G	A	2: 164,751,285 (GRCm39)	P94S	probably benign	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
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
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'- AGGCAAGAGTCAATCCCAGG -3'
(R):5'- AGGAGACTTAGAAACGCTGTGC -3'

Sequencing Primer
(F):5'- GAGTCAATCCCAGGGCCATC -3'
(R):5'- GTCCTGGGTTCAAATGTAGCAACC -3'

Posted On

2018-06-06