Mutagenetix > Incidental Mutation

Incidental Mutation 'R5939:Ager'

462452

Institutional Source

Beutler Lab

Gene Symbol

Ager

Ensembl Gene

ENSMUSG00000015452

Gene Name

advanced glycosylation end product-specific receptor

Synonyms

RAGE

MMRRC Submission

043243-MU

Accession Numbers

Essential gene?

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

Stock #

R5939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34816836-34819910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34817175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 38 (C38F)

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: C38F

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

SMART Domains

Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452
AA Change: C38F

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: C38F

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

SMART Domains

Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452
AA Change: C38F

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: C38F

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

SMART Domains

Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452
AA Change: C38F

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: C38F

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

SMART Domains

Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452
AA Change: C38F

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: ENSMUST00000174756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174475

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,404,138 (GRCm39)	F225I	probably damaging	Het
Arel1	C	A	12: 84,973,066 (GRCm39)	R577L	probably damaging	Het
Armh1	T	C	4: 117,087,119 (GRCm39)	Y182C	probably damaging	Het
Cabp2	G	T	19: 4,136,470 (GRCm39)	C172F	possibly damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
D630045J12Rik	A	C	6: 38,171,904 (GRCm39)	S755A	possibly damaging	Het
Duox1	A	T	2: 122,176,832 (GRCm39)	H1451L	probably damaging	Het
Dync2h1	A	G	9: 7,037,801 (GRCm39)	V3359A	probably damaging	Het
Erlin2	T	C	8: 27,526,554 (GRCm39)	F305L	probably benign	Het
Gm10428	A	C	11: 62,644,288 (GRCm39)		probably benign	Het
Gnal	G	A	18: 67,324,456 (GRCm39)	V204M	probably damaging	Het
Intu	T	C	3: 40,647,014 (GRCm39)	V629A	probably damaging	Het
Lrguk	G	T	6: 34,055,688 (GRCm39)	C435F	probably damaging	Het
Man1c1	C	T	4: 134,293,147 (GRCm39)	V543M	probably damaging	Het
Mcm3ap	A	G	10: 76,344,195 (GRCm39)	H1779R	probably benign	Het
Neb	T	C	2: 52,147,606 (GRCm39)	T2776A	probably benign	Het
Nek10	A	T	14: 14,931,290 (GRCm38)	Y754F	possibly damaging	Het
Nr3c1	A	G	18: 39,553,706 (GRCm39)	I664T	probably benign	Het
Nrip1	T	C	16: 76,089,010 (GRCm39)	E849G	probably damaging	Het
Nrros	A	G	16: 31,962,272 (GRCm39)	F546L	probably benign	Het
Or12e8	A	C	2: 87,188,048 (GRCm39)	I87L	possibly damaging	Het
Or5d39	T	C	2: 87,979,853 (GRCm39)	Y170C	probably damaging	Het
Pcdhb16	A	G	18: 37,611,117 (GRCm39)	T26A	probably benign	Het
Penk	A	G	4: 4,138,010 (GRCm39)	F45S	probably benign	Het
Pgap4	T	A	4: 49,586,412 (GRCm39)	Q252L	probably damaging	Het
Ppp2r3d	A	T	9: 101,089,824 (GRCm39)	N166K	probably benign	Het
Psmb1	A	G	17: 15,718,440 (GRCm39)	F29L	probably damaging	Het
Rab23	T	C	1: 33,762,990 (GRCm39)	V20A	probably damaging	Het
Ryr1	C	T	7: 28,815,552 (GRCm39)	A113T	probably damaging	Het
Ryr2	C	T	13: 11,805,218 (GRCm39)	R882K	probably damaging	Het
Slc6a6	A	G	6: 91,731,929 (GRCm39)	N586S	probably benign	Het
Slc9c1	A	G	16: 45,368,031 (GRCm39)	I207V	probably benign	Het
Spef2	G	A	15: 9,614,301 (GRCm39)	T1215I	probably benign	Het
Thoc2l	T	C	5: 104,667,073 (GRCm39)	Y532H	possibly damaging	Het
Tmc7	C	T	7: 118,144,950 (GRCm39)	A537T	probably benign	Het
Tmem70	T	C	1: 16,747,615 (GRCm39)	V243A	probably benign	Het
Top2b	T	C	14: 16,422,786 (GRCm38)	Y1408H	probably damaging	Het
Tpcn1	A	T	5: 120,677,892 (GRCm39)	F642I	probably damaging	Het
Xirp1	T	G	9: 119,847,575 (GRCm39)	D436A	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
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'- CTTCCTGTGTTCTGTGAAGAAGAG -3'

Sequencing Primer
(F):5'- CTAGAAATCCCCCTGAACCTGGG -3'
(R):5'- TGTGTTCTGTGAAGAAGAGAAAAACC -3'

Posted On

2017-02-28