Mutagenetix > Incidental Mutation

Incidental Mutation 'R4698:Gpr153'

355827

Institutional Source

Beutler Lab

Gene Symbol

Gpr153

Ensembl Gene

ENSMUSG00000042804

Gene Name

G protein-coupled receptor 153

Synonyms

1110065N12Rik, PGR1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4698 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

152274232-152285337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152281783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 268 (S268R)

Ref Sequence

ENSEMBL: ENSMUSP00000101276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055754] [ENSMUST00000094438] [ENSMUST00000105650] [ENSMUST00000105651]

AlphaFold

Q8K0Z9

Predicted Effect

probably damaging
Transcript: ENSMUST00000055754
AA Change: S268R

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

SMART Domains

Protein: ENSMUSP00000052742
Gene: ENSMUSG00000042804
AA Change: S268R

Domain	Start	End	E-Value	Type
Pfam:7tm_1	24	298	1.2e-14	PFAM
low complexity region	501	518	N/A	INTRINSIC
low complexity region	605	617	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094438

SMART Domains

Protein: ENSMUSP00000092006
Gene: ENSMUSG00000028946

Domain	Start	End	E-Value	Type
HLH	1	55	3.83e-11	SMART
low complexity region	129	148	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105650
AA Change: S268R

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

SMART Domains

Protein: ENSMUSP00000101275
Gene: ENSMUSG00000042804
AA Change: S268R

Domain	Start	End	E-Value	Type
Pfam:7tm_1	24	297	5.4e-18	PFAM
low complexity region	478	495	N/A	INTRINSIC
low complexity region	582	594	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105651
AA Change: S268R

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

SMART Domains

Protein: ENSMUSP00000101276
Gene: ENSMUSG00000042804
AA Change: S268R

Domain	Start	End	E-Value	Type
Pfam:7tm_1	24	297	5.3e-17	PFAM
low complexity region	501	518	N/A	INTRINSIC
low complexity region	605	617	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144035

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that belongs to the Class A rhodopsin superfamily of G protein coupled receptors. The encoded protein is expressed primarily in the central nervous system. A knockdown of the orthologous gene in rat is associated with a significant reduction in food intake and impaired decision making ability. Mutations in this gene are associated with schizophrenia, autism, and other neuropsychiatric disorders. The expression of this gene is activated by the glioma-associated oncogene homolog 1 transcription factor which, in turn, is activated by sonic hedgehog in normal and tumorigenic cells. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,038,240 (GRCm38)	V11A	possibly damaging	Het
6030452D12Rik	T	C	8: 106,504,347 (GRCm38)	I55T	unknown	Het
Aadacl2	A	G	3: 60,025,039 (GRCm38)	D325G	probably benign	Het
Adh1	A	G	3: 138,282,513 (GRCm38)	S113G	probably benign	Het
Agxt2	T	C	15: 10,392,044 (GRCm38)		probably null	Het
Aicda	C	T	6: 122,553,888 (GRCm38)		probably benign	Het
Aifm2	T	C	10: 61,727,756 (GRCm38)	M135T	probably benign	Het
Asah2	T	C	19: 32,054,471 (GRCm38)		probably null	Het
Btbd17	T	C	11: 114,791,717 (GRCm38)	R390G	probably damaging	Het
Cadps	T	C	14: 12,705,654 (GRCm38)	E247G	possibly damaging	Het
Cds2	T	C	2: 132,304,953 (GRCm38)	I383T	probably damaging	Het
Celf3	T	A	3: 94,484,867 (GRCm38)		probably null	Het
Crhr2	T	C	6: 55,102,867 (GRCm38)	S162G	possibly damaging	Het
Dapl1	A	T	2: 59,504,774 (GRCm38)	K91*	probably null	Het
Ddx60	A	C	8: 62,012,424 (GRCm38)	M1372L	probably benign	Het
Dnah2	A	T	11: 69,498,532 (GRCm38)	F845I	probably damaging	Het
Dscam	T	C	16: 96,610,324 (GRCm38)	D1784G	probably damaging	Het
Ech1	T	C	7: 28,832,053 (GRCm38)	V310A	probably benign	Het
Eef1g	A	G	19: 8,977,966 (GRCm38)	D393G	possibly damaging	Het
Eif3k	T	C	7: 28,972,544 (GRCm38)	I172V	possibly damaging	Het
Foxd4	A	G	19: 24,900,261 (GRCm38)	F192L	probably damaging	Het
Hist2h3b	C	A	3: 96,269,078 (GRCm38)	R129S	probably damaging	Het
Ivl	T	C	3: 92,571,391 (GRCm38)	K456E	unknown	Het
Kif20b	A	T	19: 34,951,544 (GRCm38)	D1190V	probably damaging	Het
Kif21a	T	A	15: 90,956,305 (GRCm38)	I1223L	possibly damaging	Het
Lmf1	T	C	17: 25,579,350 (GRCm38)	V55A	probably damaging	Het
Loxhd1	A	G	18: 77,372,291 (GRCm38)	E659G	possibly damaging	Het
Lrrc37a	T	C	11: 103,504,104 (GRCm38)	E165G	possibly damaging	Het
Mios	T	C	6: 8,228,113 (GRCm38)	Y677H	possibly damaging	Het
Mnx1	T	A	5: 29,474,059 (GRCm38)	K342M	unknown	Het
Mtpap	A	T	18: 4,375,724 (GRCm38)	T35S	possibly damaging	Het
Ndc1	C	G	4: 107,411,137 (GRCm38)	D623E	probably benign	Het
Nedd4l	A	G	18: 65,203,880 (GRCm38)	Y666C	probably damaging	Het
Olfr1022	A	G	2: 85,869,252 (GRCm38)	Y220C	possibly damaging	Het
Olfr1445	T	G	19: 12,884,621 (GRCm38)	F247V	probably benign	Het
Olfr204	T	C	16: 59,315,357 (GRCm38)	T17A	probably damaging	Het
Olfr605	T	A	7: 103,442,635 (GRCm38)	I163F	possibly damaging	Het
Papss1	G	T	3: 131,607,331 (GRCm38)	V369F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,769 (GRCm38)	Y601N	probably damaging	Het
Pde7a	C	T	3: 19,310,931 (GRCm38)	R24Q	probably damaging	Het
Phf21a	A	G	2: 92,356,952 (GRCm38)	D445G	probably damaging	Het
Plekho1	T	A	3: 95,995,652 (GRCm38)	N15I	possibly damaging	Het
Pprc1	T	C	19: 46,069,195 (GRCm38)		probably benign	Het
Ralgapa1	A	T	12: 55,677,276 (GRCm38)		probably null	Het
Rrp12	T	C	19: 41,873,042 (GRCm38)	E942G	probably benign	Het
Skor1	T	C	9: 63,144,548 (GRCm38)	D685G	probably benign	Het
Smim23	A	T	11: 32,824,510 (GRCm38)	I3N	possibly damaging	Het
Spata7	A	T	12: 98,664,277 (GRCm38)	I333F	probably damaging	Het
Sppl2c	T	C	11: 104,188,315 (GRCm38)	I647T	probably benign	Het
Srgap1	C	A	10: 121,792,487 (GRCm38)	R837L	probably benign	Het
Stpg2	C	A	3: 139,309,229 (GRCm38)	P385H	probably damaging	Het
Tmem238	C	A	7: 4,789,017 (GRCm38)	E19*	probably null	Het
Top2b	A	T	14: 16,387,331 (GRCm38)	K140*	probably null	Het
Trp53	T	A	11: 69,588,422 (GRCm38)	L142*	probably null	Het
Tyro3	A	T	2: 119,803,270 (GRCm38)	D133V	probably damaging	Het
Virma	T	A	4: 11,528,636 (GRCm38)	I1291N	probably damaging	Het
Vmn1r213	A	G	13: 23,011,337 (GRCm38)		probably benign	Het
Zbtb10	T	C	3: 9,264,550 (GRCm38)	S323P	possibly damaging	Het
Zfp521	A	T	18: 13,845,603 (GRCm38)	N584K	probably damaging	Het
Zfp944	A	G	17: 22,339,199 (GRCm38)	C356R	probably damaging	Het

Other mutations in Gpr153

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Gpr153	APN	4	152,281,966 (GRCm38)	unclassified	probably benign
IGL01368:Gpr153	APN	4	152,282,994 (GRCm38)	missense	probably benign	0.40
IGL01568:Gpr153	APN	4	152,282,368 (GRCm38)	splice site	probably null
IGL01672:Gpr153	APN	4	152,279,913 (GRCm38)	nonsense	probably null
R0735:Gpr153	UTSW	4	152,279,373 (GRCm38)	nonsense	probably null
R0925:Gpr153	UTSW	4	152,281,874 (GRCm38)	missense	probably benign
R1302:Gpr153	UTSW	4	152,279,943 (GRCm38)	missense	probably damaging	1.00
R1829:Gpr153	UTSW	4	152,282,392 (GRCm38)	missense	possibly damaging	0.70
R2041:Gpr153	UTSW	4	152,283,353 (GRCm38)	missense	probably benign
R5069:Gpr153	UTSW	4	152,279,883 (GRCm38)	missense	probably damaging	0.99
R5623:Gpr153	UTSW	4	152,281,941 (GRCm38)	missense	possibly damaging	0.89
R5800:Gpr153	UTSW	4	152,280,077 (GRCm38)	nonsense	probably null
R5940:Gpr153	UTSW	4	152,283,375 (GRCm38)	missense	probably benign	0.12
R6773:Gpr153	UTSW	4	152,279,300 (GRCm38)	missense	probably damaging	1.00
R6944:Gpr153	UTSW	4	152,279,363 (GRCm38)	missense	probably damaging	1.00
R7486:Gpr153	UTSW	4	152,282,401 (GRCm38)	missense	probably benign	0.01
R8170:Gpr153	UTSW	4	152,280,177 (GRCm38)	missense	probably damaging	1.00
R8699:Gpr153	UTSW	4	152,279,101 (GRCm38)	start gained	probably benign
R8701:Gpr153	UTSW	4	152,279,101 (GRCm38)	start gained	probably benign
R8732:Gpr153	UTSW	4	152,279,101 (GRCm38)	start gained	probably benign
R9047:Gpr153	UTSW	4	152,280,207 (GRCm38)	missense	probably damaging	1.00
R9383:Gpr153	UTSW	4	152,283,059 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCAGTTTACACAGCTGACCTG -3'
(R):5'- AGAATCTTCGTCGTTGGCC -3'

Sequencing Primer
(F):5'- GCACAAGCCTCTGCCTTCAG -3'
(R):5'- AGAATCTTCGTCGTTGGCCATAAG -3'

Posted On

2015-10-21