Mutagenetix > Incidental Mutation

Incidental Mutation 'R7009:Ager'

544942

Institutional Source

Beutler Lab

Gene Symbol

Ager

Ensembl Gene

ENSMUSG00000015452

Gene Name

advanced glycosylation end product-specific receptor

Synonyms

RAGE

MMRRC Submission

045111-MU

Accession Numbers

Essential gene?

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

Stock #

R7009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34816836-34819910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34819710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 372 (E372G)

Ref Sequence

ENSEMBL: ENSMUSP00000134401 (fasta)

Gene Model

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

AlphaFold

Q62151

Predicted Effect

probably damaging
Transcript: ENSMUST00000015596
AA Change: E381G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452
AA Change: E381G

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

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 damaging
Transcript: ENSMUST00000173992
AA Change: E363G

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

SMART Domains

Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452
AA Change: E363G

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: 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

probably benign
Transcript: ENSMUST00000174069

SMART Domains

Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452

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 damaging
Transcript: ENSMUST00000174496
AA Change: E372G

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

SMART Domains

Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452
AA Change: E372G

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 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (82/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	G	T	13: 59,838,624 (GRCm39)	D69E	possibly damaging	Het
Abat	A	C	16: 8,420,231 (GRCm39)	M177L	probably benign	Het
Acadvl	A	G	11: 69,905,617 (GRCm39)		probably null	Het
Adam5	T	C	8: 25,296,454 (GRCm39)	N331S	probably benign	Het
Angpt1	T	A	15: 42,386,991 (GRCm39)	Q121L	possibly damaging	Het
Apoa4	A	T	9: 46,154,178 (GRCm39)	I260F	possibly damaging	Het
Arhgap32	A	T	9: 32,157,272 (GRCm39)	I90F	probably damaging	Het
Arhgap5	A	T	12: 52,566,422 (GRCm39)	Q1131L	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cacna2d3	A	T	14: 28,691,322 (GRCm39)	M1K	probably null	Het
Ccdc18	G	A	5: 108,321,728 (GRCm39)		probably null	Het
Ccdc42	T	C	11: 68,485,442 (GRCm39)	F267S	probably damaging	Het
Cdh23	T	A	10: 60,173,085 (GRCm39)	Y1700F	probably damaging	Het
Cenpe	A	T	3: 134,940,962 (GRCm39)	S704C	probably damaging	Het
Cenpe	G	A	3: 134,940,963 (GRCm39)	S704N	probably benign	Het
Cfap299	A	T	5: 98,932,379 (GRCm39)	D193V	probably damaging	Het
Cfap54	A	T	10: 92,710,881 (GRCm39)	S2727T	unknown	Het
Clu	T	A	14: 66,209,281 (GRCm39)	V113D	probably damaging	Het
Cnbd2	A	G	2: 156,161,954 (GRCm39)	I98V	probably benign	Het
Copa	G	T	1: 171,918,567 (GRCm39)	R97L	probably damaging	Het
Epb41l1	C	A	2: 156,376,603 (GRCm39)		probably null	Het
Etnk1	T	A	6: 143,148,880 (GRCm39)		probably null	Het
Fnip1	A	T	11: 54,393,761 (GRCm39)	K732N	probably damaging	Het
G6pd2	A	G	5: 61,966,234 (GRCm39)	E3G	probably benign	Het
Gal3st2	A	G	1: 93,801,481 (GRCm39)	T95A	probably benign	Het
Gapvd1	A	G	2: 34,590,829 (GRCm39)	S948P	probably damaging	Het
Ggps1	A	T	13: 14,228,750 (GRCm39)	Y8*	probably null	Het
Gria2	T	C	3: 80,614,279 (GRCm39)	E587G	probably damaging	Het
Hpse	T	C	5: 100,840,145 (GRCm39)	E324G	probably benign	Het
Il16	G	A	7: 83,295,596 (GRCm39)	T493I	probably benign	Het
Ints1	T	C	5: 139,754,217 (GRCm39)	T652A	possibly damaging	Het
Ism1	A	G	2: 139,599,199 (GRCm39)	I391V	probably damaging	Het
Katnb1	A	G	8: 95,825,012 (GRCm39)	D598G	probably damaging	Het
Kif5c	A	G	2: 49,647,441 (GRCm39)	S880G	probably benign	Het
Klra8	T	C	6: 130,102,147 (GRCm39)	N96S	probably benign	Het
Krt79	T	A	15: 101,839,876 (GRCm39)	D373V	probably damaging	Het
Lamtor4	G	A	5: 138,257,374 (GRCm39)	R92Q	probably benign	Het
Lce1d	C	A	3: 92,593,353 (GRCm39)	C20F	unknown	Het
Limk1	T	C	5: 134,701,553 (GRCm39)	T117A	probably benign	Het
Medag	A	T	5: 149,350,708 (GRCm39)	K61M	probably benign	Het
Mkrn3	T	C	7: 62,069,366 (GRCm39)	M142V	probably benign	Het
Mob3c	G	A	4: 115,688,779 (GRCm39)	R104H	probably benign	Het
Morc1	G	T	16: 48,447,433 (GRCm39)	R903L	possibly damaging	Het
Myh6	T	C	14: 55,189,749 (GRCm39)	E1099G	probably damaging	Het
Nphp3	T	G	9: 103,893,315 (GRCm39)	C434G	probably null	Het
Npr3	C	T	15: 11,905,334 (GRCm39)	C131Y	probably damaging	Het
Oacyl	C	A	18: 65,855,609 (GRCm39)	Y112*	probably null	Het
Oprl1	A	G	2: 181,360,174 (GRCm39)	T77A	probably damaging	Het
Osgep	A	G	14: 51,162,165 (GRCm39)	V24A	probably damaging	Het
Otx2	T	A	14: 48,896,254 (GRCm39)	K260M	probably damaging	Het
Pdcd11	T	C	19: 47,101,581 (GRCm39)	L922P	probably benign	Het
Pgap4	A	T	4: 49,586,325 (GRCm39)	M281K	probably benign	Het
Phldb1	A	G	9: 44,605,705 (GRCm39)	V375A	probably damaging	Het
Pip5k1b	C	T	19: 24,337,299 (GRCm39)		probably null	Het
Psmd3	G	A	11: 98,573,592 (GRCm39)	D13N	probably benign	Het
Ptprc	G	A	1: 137,992,291 (GRCm39)	H1140Y	probably damaging	Het
Ranbp3l	A	T	15: 9,063,064 (GRCm39)	H291L	probably damaging	Het
Rasa4	T	A	5: 136,130,217 (GRCm39)	D324E	probably damaging	Het
Rilpl1	T	A	5: 124,641,755 (GRCm39)		silent	Het
Rin2	A	C	2: 145,725,395 (GRCm39)	D794A	probably damaging	Het
Ripk1	A	G	13: 34,214,045 (GRCm39)	I522M	probably damaging	Het
Rnf31	T	C	14: 55,830,008 (GRCm39)	Y143H	probably benign	Het
Rp1	T	G	1: 4,112,291 (GRCm39)	I1187L	unknown	Het
Rps6ka5	G	A	12: 100,585,796 (GRCm39)	H166Y	probably damaging	Het
Rrm1	T	C	7: 102,109,541 (GRCm39)	V455A	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn5a	T	G	9: 119,314,996 (GRCm39)	E1904A	probably damaging	Het
Sec16a	G	T	2: 26,326,014 (GRCm39)	S240*	probably null	Het
Slc22a8	C	T	19: 8,582,781 (GRCm39)	T154I	probably benign	Het
Slc25a16	T	A	10: 62,773,233 (GRCm39)	V156E	possibly damaging	Het
Slc28a3	A	T	13: 58,758,618 (GRCm39)	S2T	probably benign	Het
Srd5a3	G	A	5: 76,297,713 (GRCm39)	V48I	probably benign	Het
Srebf1	A	C	11: 60,091,352 (GRCm39)	H1025Q	probably damaging	Het
Stard9	A	G	2: 120,527,672 (GRCm39)	K1310E	probably benign	Het
Swt1	A	G	1: 151,246,381 (GRCm39)	V848A	possibly damaging	Het
Tanc2	A	T	11: 105,731,525 (GRCm39)	T434S	possibly damaging	Het
Tcf20	G	A	15: 82,738,883 (GRCm39)	T856I	probably benign	Het
Tcf7l2	T	C	19: 55,883,165 (GRCm39)		probably null	Het
Trim45	A	G	3: 100,839,195 (GRCm39)		probably benign	Het
Tsen2	T	A	6: 115,524,933 (GRCm39)	M44K	possibly damaging	Het
Ttc21a	T	A	9: 119,787,139 (GRCm39)	C715*	probably null	Het
Vmn2r102	G	A	17: 19,914,456 (GRCm39)	V674I	probably damaging	Het
Zfp87	A	G	13: 67,665,173 (GRCm39)	S430P	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
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
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'- TATGTCCCTACAGGCTCTGTG -3'
(R):5'- CTCAGCATGGATCATGTGGG -3'

Sequencing Primer
(F):5'- TGGGAGTAGTAGCCCTGC -3'
(R):5'- AGCATGGATCATGTGGGCTCTG -3'

Posted On

2019-05-13