Mutagenetix > Incidental Mutation

Incidental Mutation 'R5881:Ager'

454451

Institutional Source

Beutler Lab

Gene Symbol

Ager

Ensembl Gene

ENSMUSG00000015452

Gene Name

advanced glycosylation end product-specific receptor

Synonyms

RAGE

MMRRC Submission

044085-MU

Accession Numbers

Essential gene?

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

Stock #

R5881 (G1)

Quality Score

137

Status

Not validated

Chromosome

Chromosomal Location

34816836-34819910 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34819051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 300 (V300L)

Ref Sequence

ENSEMBL: ENSMUSP00000134401 (fasta)

Gene Model

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

AlphaFold

Q62151

Predicted Effect

probably damaging
Transcript: ENSMUST00000015596
AA Change: V300L

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

SMART Domains

Protein: ENSMUSP00000015596
Gene: ENSMUSG00000015452
AA Change: V300L

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: V300L

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

SMART Domains

Protein: ENSMUSP00000133391
Gene: ENSMUSG00000015452
AA Change: V300L

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

noncoding transcript
Transcript: ENSMUST00000174554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174640

Predicted Effect

probably damaging
Transcript: ENSMUST00000173992
AA Change: V291L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134579
Gene: ENSMUSG00000015452
AA Change: V291L

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: V300L

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

SMART Domains

Protein: ENSMUSP00000134401
Gene: ENSMUSG00000015452
AA Change: V300L

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: ENSMUST00000174045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174756

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: 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: 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: ENSMUST00000184805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184846

Coding Region Coverage

1x: 99.9%
3x: 99.3%
10x: 94.5%
20x: 78.4%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	C	11: 95,725,213 (GRCm39)	L159W	probably damaging	Het
Abi3	A	T	11: 95,725,214 (GRCm39)	L159M	probably damaging	Het
Adam11	A	C	11: 102,664,636 (GRCm39)	I406L	probably benign	Het
Ank3	C	T	10: 69,822,660 (GRCm39)	S1726L	probably benign	Het
Boc	A	G	16: 44,311,014 (GRCm39)	I740T	probably damaging	Het
C8a	T	A	4: 104,711,129 (GRCm39)	D178V	probably damaging	Het
Ces3a	G	A	8: 105,777,198 (GRCm39)	V174M	probably damaging	Het
Cisd1	A	T	10: 71,172,244 (GRCm39)	W13R	probably damaging	Het
Commd8	A	T	5: 72,320,107 (GRCm39)	D111E	probably benign	Het
Ddx60	A	T	8: 62,490,104 (GRCm39)	D1691V	probably damaging	Het
Desi2	A	G	1: 178,065,479 (GRCm39)	Y15C	probably damaging	Het
Dnmt1	A	G	9: 20,864,013 (GRCm39)	V24A	probably damaging	Het
Dock10	G	A	1: 80,538,640 (GRCm39)	T968M	probably benign	Het
Dsel	A	T	1: 111,787,168 (GRCm39)	F1122L	probably damaging	Het
Eml3	T	C	19: 8,910,807 (GRCm39)	F220L	probably damaging	Het
Entpd2	A	C	2: 25,290,824 (GRCm39)	N443H	probably damaging	Het
Epgn	A	G	5: 91,176,222 (GRCm39)	N36S	probably benign	Het
Fsip2	G	T	2: 82,814,785 (GRCm39)	S3506I	possibly damaging	Het
Gprin3	T	C	6: 59,331,771 (GRCm39)	S179G	probably benign	Het
Grifin	G	T	5: 140,549,342 (GRCm39)	H125N	possibly damaging	Het
H1f9	A	G	11: 94,858,989 (GRCm39)	T95A	possibly damaging	Het
Hmcn1	A	G	1: 150,506,078 (GRCm39)	V3816A	probably damaging	Het
Hspa14	A	G	2: 3,499,207 (GRCm39)	F196L	probably benign	Het
Ice1	T	C	13: 70,754,620 (GRCm39)	K489E	probably benign	Het
Jmjd6	C	T	11: 116,730,682 (GRCm39)	W117*	probably null	Het
Lrit2	G	T	14: 36,794,192 (GRCm39)	A419S	probably benign	Het
Mc3r	T	C	2: 172,091,092 (GRCm39)	S105P	probably benign	Het
Mccc1	A	G	3: 36,018,531 (GRCm39)	V601A	probably benign	Het
Myo1f	A	G	17: 33,795,627 (GRCm39)	D91G	probably damaging	Het
Myo1f	G	A	17: 33,799,259 (GRCm39)	E255K	possibly damaging	Het
Necap1	T	A	6: 122,858,503 (GRCm39)	D115E	probably benign	Het
Or4b12	A	T	2: 90,096,786 (GRCm39)		probably null	Het
Or4k15b	G	A	14: 50,272,444 (GRCm39)	R139C	probably benign	Het
Or51b6	T	A	7: 103,555,883 (GRCm39)	M79K	probably damaging	Het
Papln	A	G	12: 83,818,652 (GRCm39)	E78G	probably null	Het
Phldb3	T	C	7: 24,326,147 (GRCm39)		probably null	Het
Pkd1l2	A	G	8: 117,724,321 (GRCm39)	I2394T	probably damaging	Het
Ppa2	A	T	3: 133,036,200 (GRCm39)	N118I	probably damaging	Het
Ppef2	A	T	5: 92,398,388 (GRCm39)	C43*	probably null	Het
Pramel51	A	G	12: 88,143,111 (GRCm39)	L169P	probably damaging	Het
Rab27a	G	A	9: 72,992,321 (GRCm39)		probably null	Het
Rabgap1l	A	T	1: 160,169,683 (GRCm39)	F47I	probably damaging	Het
Rala	A	G	13: 18,067,746 (GRCm39)	I95T	probably damaging	Het
Rgl2	A	G	17: 34,151,691 (GRCm39)	D245G	probably benign	Het
Rnf34	A	T	5: 123,002,146 (GRCm39)	T35S	probably damaging	Het
Ros1	C	T	10: 52,057,894 (GRCm39)	R51Q	probably benign	Het
Samd9l	T	C	6: 3,372,716 (GRCm39)	D1515G	possibly damaging	Het
Scn7a	T	C	2: 66,505,870 (GRCm39)	E1673G	probably benign	Het
Slc6a20a	A	C	9: 123,470,773 (GRCm39)		probably null	Het
Tdrd5	A	T	1: 156,122,070 (GRCm39)	S280T	probably damaging	Het
Tent2	A	T	13: 93,312,246 (GRCm39)	C180*	probably null	Het
Tie1	T	C	4: 118,332,800 (GRCm39)	I911V	possibly damaging	Het
Vipas39	G	A	12: 87,298,581 (GRCm39)	R194*	probably null	Het
Ybx3	A	C	6: 131,345,451 (GRCm39)	N307K	possibly damaging	Het
Ylpm1	A	T	12: 85,088,899 (GRCm39)	H1216L	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
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'- GACTGTTGGCTCTGCAGATG -3'
(R):5'- CCTCAGTTAGTGGAAAAGCTGG -3'

Sequencing Primer
(F):5'- GGTTGCTACATTTGAACCCAGGAC -3'
(R):5'- CTTTTGGAAGCACTGAGAAAGG -3'

Posted On

2017-02-10