Mutagenetix > Incidental Mutation

Incidental Mutation 'R7486:Gpr153'

580154

Institutional Source

Beutler Lab

Gene Symbol

Gpr153

Ensembl Gene

ENSMUSG00000042804

Gene Name

G protein-coupled receptor 153

Synonyms

PGR1, 1110065N12Rik

MMRRC Submission

045560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152358689-152369794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152366858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 337 (D337G)

Ref Sequence

ENSEMBL: ENSMUSP00000052742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055754] [ENSMUST00000094438] [ENSMUST00000105650] [ENSMUST00000105651] [ENSMUST00000218045]

AlphaFold

Q8K0Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000055754
AA Change: D337G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000052742
Gene: ENSMUSG00000042804
AA Change: D337G

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 benign
Transcript: ENSMUST00000105650
AA Change: D337G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101275
Gene: ENSMUSG00000042804
AA Change: D337G

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 benign
Transcript: ENSMUST00000105651
AA Change: D337G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101276
Gene: ENSMUSG00000042804
AA Change: D337G

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

probably benign
Transcript: ENSMUST00000218045

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	T	C	12: 81,605,657 (GRCm39)	I702V	probably benign	Het
Adgre5	T	C	8: 84,450,515 (GRCm39)	E815G	probably damaging	Het
Adgrl2	A	G	3: 148,523,330 (GRCm39)	V298A		Het
Akp3	A	G	1: 87,053,201 (GRCm39)	D91G	probably damaging	Het
Ano8	A	G	8: 71,937,642 (GRCm39)		probably null	Het
Blvra	T	C	2: 126,929,243 (GRCm39)	S136P	unknown	Het
Cacul1	T	A	19: 60,568,868 (GRCm39)	M97L	probably benign	Het
Ccdc80	T	C	16: 44,946,542 (GRCm39)	V827A	probably damaging	Het
Cep68	T	C	11: 20,192,166 (GRCm39)	E11G	probably benign	Het
Cfap221	A	T	1: 119,851,322 (GRCm39)	V813E	possibly damaging	Het
Chd6	A	G	2: 160,791,923 (GRCm39)	V2478A	probably damaging	Het
Chmp6	T	C	11: 119,807,783 (GRCm39)	F148S	probably benign	Het
Clca3a2	T	A	3: 144,503,362 (GRCm39)	I863F	probably damaging	Het
Cnnm2	T	C	19: 46,750,513 (GRCm39)	V101A	possibly damaging	Het
Cpne8	A	T	15: 90,400,109 (GRCm39)		probably null	Het
Dmbt1	T	G	7: 130,668,192 (GRCm39)	C483G	unknown	Het
Dnah7b	G	A	1: 46,329,894 (GRCm39)	G3246D	probably damaging	Het
Dnajc3	C	A	14: 119,209,816 (GRCm39)	T297K	probably benign	Het
Dpm3	A	G	3: 89,174,034 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,457,793 (GRCm39)	N51D	probably benign	Het
Erc1	G	A	6: 119,571,907 (GRCm39)	Q1022*	probably null	Het
Ercc5	T	A	1: 44,187,224 (GRCm39)	M1K	probably null	Het
Fam114a2	C	T	11: 57,404,515 (GRCm39)	G83D	probably damaging	Het
Fat4	C	A	3: 39,011,576 (GRCm39)	Y2225*	probably null	Het
Frk	G	A	10: 34,423,292 (GRCm39)	W123*	probably null	Het
Gm11568	T	A	11: 99,749,292 (GRCm39)	C166S	unknown	Het
Gpt2	T	C	8: 86,252,235 (GRCm39)	F517L	probably damaging	Het
Gsg1	C	T	6: 135,214,427 (GRCm39)	E361K	probably benign	Het
Hsfy2	G	A	1: 56,676,130 (GRCm39)	R136*	probably null	Het
Insm1	G	A	2: 146,065,738 (GRCm39)	R518H	probably damaging	Het
Kank1	G	A	19: 25,388,193 (GRCm39)	C622Y	probably damaging	Het
Katnb1	T	A	8: 95,825,357 (GRCm39)	S640R	probably damaging	Het
Kcnmb4	A	G	10: 116,254,180 (GRCm39)	V199A	probably benign	Het
Lamb1	T	G	12: 31,337,441 (GRCm39)	S391A	probably benign	Het
Larp7-ps	A	T	4: 92,079,506 (GRCm39)	V105E	probably benign	Het
Macf1	T	G	4: 123,303,374 (GRCm39)	D376A	probably benign	Het
Map7d1	C	A	4: 126,128,179 (GRCm39)	R614L	unknown	Het
Mcm8	C	T	2: 132,681,440 (GRCm39)	R667W	probably damaging	Het
Med13l	C	T	5: 118,866,539 (GRCm39)	T531I	probably benign	Het
Mstn	G	T	1: 53,103,128 (GRCm39)	A155S	probably damaging	Het
Mycbp2	C	T	14: 103,434,690 (GRCm39)	R2251K	probably damaging	Het
Myo19	T	C	11: 84,796,463 (GRCm39)	S692P	probably benign	Het
Nipbl	A	T	15: 8,325,120 (GRCm39)	N2514K	probably benign	Het
Nkd2	T	A	13: 73,995,561 (GRCm39)		probably benign	Het
Nox3	T	A	17: 3,720,219 (GRCm39)	Y322F	probably damaging	Het
Nt5dc1	A	G	10: 34,275,805 (GRCm39)	Y135H	probably benign	Het
Oog3	T	A	4: 143,884,742 (GRCm39)	H398L	probably benign	Het
Or10g9	T	A	9: 39,912,181 (GRCm39)	Y114F	probably benign	Het
Or12j4	C	T	7: 140,045,947 (GRCm39)		probably benign	Het
Or1e29	T	C	11: 73,667,847 (GRCm39)	Y102C	probably damaging	Het
Otogl	A	G	10: 107,657,849 (GRCm39)	L1027P	probably damaging	Het
Pcdh20	T	A	14: 88,706,050 (GRCm39)	I417F	possibly damaging	Het
Pcdha12	T	A	18: 37,154,610 (GRCm39)	V443E	probably damaging	Het
Pcdhga2	A	G	18: 37,803,461 (GRCm39)	D435G	probably benign	Het
Pcnt	G	T	10: 76,254,270 (GRCm39)	T853K	probably benign	Het
Pcnt	T	C	10: 76,254,271 (GRCm39)	T853A	probably benign	Het
Pgghg	T	A	7: 140,522,393 (GRCm39)	S57R	probably benign	Het
Ppm1m	T	C	9: 106,073,810 (GRCm39)	D301G	probably damaging	Het
Ppp6r1	A	G	7: 4,642,899 (GRCm39)	V519A	probably benign	Het
Prss41	ACAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCA	17: 24,063,072 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,640,201 (GRCm39)		probably null	Het
Robo4	T	C	9: 37,316,870 (GRCm39)	V395A	probably damaging	Het
Scrib	A	G	15: 75,929,499 (GRCm39)	S1123P	probably damaging	Het
Setd1b	A	G	5: 123,301,655 (GRCm39)	K45E	probably benign	Het
Slc14a1	T	C	18: 78,154,739 (GRCm39)	S216G	probably benign	Het
Slc25a45	A	G	19: 5,934,997 (GRCm39)	Y282C	probably damaging	Het
Slc6a5	T	C	7: 49,567,078 (GRCm39)	S255P	possibly damaging	Het
Smc2	A	T	4: 52,462,861 (GRCm39)	Q617L	possibly damaging	Het
Spo11	G	A	2: 172,825,870 (GRCm39)	D103N	probably benign	Het
Tcf20	A	T	15: 82,737,935 (GRCm39)	M1172K	possibly damaging	Het
Tesc	T	A	5: 118,184,382 (GRCm39)	S21T	probably benign	Het
Tie1	C	A	4: 118,337,101 (GRCm39)		probably null	Het
Trim24	T	G	6: 37,934,774 (GRCm39)		probably null	Het
Trpm7	A	G	2: 126,673,115 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,965,259 (GRCm39)	D193G	possibly damaging	Het
Upk3a	A	T	15: 84,902,225 (GRCm39)		probably null	Het
Vmn2r25	T	C	6: 123,800,101 (GRCm39)	N747S	probably damaging	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,270,418 (GRCm39)		probably benign	Het
Zbtb2	G	A	10: 4,319,025 (GRCm39)	Q334*	probably null	Het
Zfp653	T	C	9: 21,967,824 (GRCm39)	N494D	probably damaging	Het
Zfp865	A	G	7: 5,034,259 (GRCm39)	D748G	possibly damaging	Het
Zzef1	T	C	11: 72,755,612 (GRCm39)	S1014P	possibly damaging	Het

Other mutations in Gpr153

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Gpr153	APN	4	152,366,423 (GRCm39)	unclassified	probably benign
IGL01368:Gpr153	APN	4	152,367,451 (GRCm39)	missense	probably benign	0.40
IGL01568:Gpr153	APN	4	152,366,825 (GRCm39)	splice site	probably null
IGL01672:Gpr153	APN	4	152,364,370 (GRCm39)	nonsense	probably null
R0735:Gpr153	UTSW	4	152,363,830 (GRCm39)	nonsense	probably null
R0925:Gpr153	UTSW	4	152,366,331 (GRCm39)	missense	probably benign
R1302:Gpr153	UTSW	4	152,364,400 (GRCm39)	missense	probably damaging	1.00
R1829:Gpr153	UTSW	4	152,366,849 (GRCm39)	missense	possibly damaging	0.70
R2041:Gpr153	UTSW	4	152,367,810 (GRCm39)	missense	probably benign
R4698:Gpr153	UTSW	4	152,366,240 (GRCm39)	missense	probably damaging	1.00
R5069:Gpr153	UTSW	4	152,364,340 (GRCm39)	missense	probably damaging	0.99
R5623:Gpr153	UTSW	4	152,366,398 (GRCm39)	missense	possibly damaging	0.89
R5800:Gpr153	UTSW	4	152,364,534 (GRCm39)	nonsense	probably null
R5940:Gpr153	UTSW	4	152,367,832 (GRCm39)	missense	probably benign	0.12
R6773:Gpr153	UTSW	4	152,363,757 (GRCm39)	missense	probably damaging	1.00
R6944:Gpr153	UTSW	4	152,363,820 (GRCm39)	missense	probably damaging	1.00
R8170:Gpr153	UTSW	4	152,364,634 (GRCm39)	missense	probably damaging	1.00
R8699:Gpr153	UTSW	4	152,363,558 (GRCm39)	start gained	probably benign
R8701:Gpr153	UTSW	4	152,363,558 (GRCm39)	start gained	probably benign
R8732:Gpr153	UTSW	4	152,363,558 (GRCm39)	start gained	probably benign
R9047:Gpr153	UTSW	4	152,364,664 (GRCm39)	missense	probably damaging	1.00
R9383:Gpr153	UTSW	4	152,367,516 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCAGTTCCCACCCTAAATC -3'
(R):5'- ACAGACATGAGGTTCCTCTGC -3'

Sequencing Primer
(F):5'- GCTTAATATGGAAGCCTCCGGATAC -3'
(R):5'- ACATGAGGTTCCTCTGCTCTGC -3'

Posted On

2019-10-07