Mutagenetix > Incidental Mutation

Incidental Mutation 'R9047:Gpr153'

688104

Institutional Source

Beutler Lab

Gene Symbol

Gpr153

Ensembl Gene

ENSMUSG00000042804

Gene Name

G protein-coupled receptor 153

Synonyms

1110065N12Rik, PGR1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152274232-152285337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152280207 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 240 (L240P)

Ref Sequence

ENSEMBL: ENSMUSP00000052742 (fasta)

Gene Model

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

AlphaFold

Q8K0Z9

Predicted Effect

probably damaging
Transcript: ENSMUST00000055754
AA Change: L240P

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

SMART Domains

Protein: ENSMUSP00000052742
Gene: ENSMUSG00000042804
AA Change: L240P

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 damaging
Transcript: ENSMUST00000105650
AA Change: L240P

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

SMART Domains

Protein: ENSMUSP00000101275
Gene: ENSMUSG00000042804
AA Change: L240P

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: L240P

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

SMART Domains

Protein: ENSMUSP00000101276
Gene: ENSMUSG00000042804
AA Change: L240P

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

Coding Region Coverage

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

Validation Efficiency

100% (76/76)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,939,093	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,737,554	L146P		Het
Adra1a	T	A	14: 66,638,185	M203K	probably damaging	Het
Adtrp	G	A	13: 41,816,160	T89I	possibly damaging	Het
Akt3	G	T	1: 177,059,389	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,623,200		probably benign	Het
Aplf	T	C	6: 87,663,797	T77A	possibly damaging	Het
Arid4b	T	A	13: 14,181,230	W618R	probably damaging	Het
Asxl3	C	A	18: 22,452,408	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,452,414	K132R	probably damaging	Het
Atp11a	T	C	8: 12,828,483	M353T	probably damaging	Het
Atp11b	A	G	3: 35,806,889	D375G	probably damaging	Het
BC052040	A	G	2: 115,777,023	T286A	probably benign	Het
Cage1	C	T	13: 38,017,362	A656T	possibly damaging	Het
Casz1	C	T	4: 148,939,040	P801S	probably damaging	Het
Ccdc130	C	T	8: 84,263,898	R35Q	probably damaging	Het
Ccdc144b	A	G	3: 36,032,884	I187T	probably benign	Het
Cdc14b	A	T	13: 64,220,944		probably benign	Het
Cox6b2	A	G	7: 4,752,087	F63L	probably benign	Het
Cramp1l	A	C	17: 24,979,629	V773G	possibly damaging	Het
Cul7	A	G	17: 46,654,522	E542G	probably benign	Het
Cyp2c55	T	C	19: 39,031,346	Y243H	possibly damaging	Het
Dnah9	C	A	11: 66,072,099	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 105,989,312	A298S		Het
Dvl3	G	A	16: 20,524,076		probably null	Het
Enpp3	T	C	10: 24,798,274	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,113,784	I289T	possibly damaging	Het
Gm3417	A	G	17: 14,967,680	Y111H	probably damaging	Het
Gm5565	T	C	5: 146,158,039	Y299C	probably damaging	Het
Gm8765	C	T	13: 50,702,092	R589*	probably null	Het
Gpat3	A	T	5: 100,846,922	M39L	probably benign	Het
Gpr182	T	C	10: 127,750,648	I145V	probably benign	Het
H2-Q4	A	T	17: 35,379,993	T80S	possibly damaging	Het
Hnf1a	T	A	5: 114,950,823	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,986,341	C79Y	probably damaging	Het
Lama2	A	G	10: 27,006,701	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,500,549	Q1350L	probably damaging	Het
Map2k2	G	A	10: 81,119,664	V294I	probably benign	Het
Mtus1	G	A	8: 41,083,723	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,750,828	D67G	possibly damaging	Het
Ngef	G	A	1: 87,503,288	P269L	probably damaging	Het
Nlrp9b	A	G	7: 20,023,476	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,298,088	R649H	possibly damaging	Het
Olfr1165-ps	T	G	2: 88,101,072	D305A	unknown	Het
Olfr1200	C	A	2: 88,767,955	R120L	probably damaging	Het
Olfr304	A	G	7: 86,386,040	S207P	probably benign	Het
Pi4kb	T	A	3: 94,993,117	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,590,762	S944P	probably damaging	Het
Podn	C	T	4: 108,021,546	V375M	probably damaging	Het
Pramef8	C	A	4: 143,419,103	Q381K	possibly damaging	Het
Psmb2	T	A	4: 126,706,102	H110Q	probably benign	Het
Rasip1	A	G	7: 45,632,642	E523G	possibly damaging	Het
Ripor1	T	G	8: 105,616,151	C219G	probably damaging	Het
Rps6ka2	G	C	17: 7,300,279	V714L	probably damaging	Het
Sass6	G	T	3: 116,613,998	L254F	probably damaging	Het
Scarf2	G	A	16: 17,806,406	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,152,338		probably benign	Het
Sh3tc1	C	A	5: 35,706,483	A787S	probably benign	Het
Skint5	T	A	4: 113,655,722	N871I	unknown	Het
Slc48a1	T	G	15: 97,789,952	D62E	probably damaging	Het
Slc6a21	G	A	7: 45,286,974	M157I		Het
Slurp2	T	C	15: 74,743,112	D60G	probably benign	Het
Sparcl1	G	T	5: 104,093,113	N148K	possibly damaging	Het
Spsb2	T	A	6: 124,810,013	N236K	probably benign	Het
Sptb	G	T	12: 76,632,534		probably benign	Het
Ssc4d	A	T	5: 135,961,176	C41S	probably damaging	Het
Tecta	A	T	9: 42,375,079	D760E	probably benign	Het
Tesmin	G	T	19: 3,389,431		probably benign	Het
Tiam1	A	C	16: 89,804,888		probably benign	Het
Tldc1	T	C	8: 119,762,311	N411S	probably benign	Het
Tnrc6a	T	C	7: 123,179,723	L1219S	probably damaging	Het
Tram1	T	G	1: 13,569,606	I306L	probably benign	Het
Trank1	A	C	9: 111,362,432	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,201,252	H1044R		Het
Ubac2	T	C	14: 121,908,214	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,106,034	M194L	probably benign	Het
Zdhhc1	G	T	8: 105,478,901	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,498,816	V42I	probably damaging	Het
Zfp81	A	G	17: 33,334,413	C476R	probably damaging	Het

Other mutations in Gpr153

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Gpr153	APN	4	152281966	unclassified	probably benign
IGL01368:Gpr153	APN	4	152282994	missense	probably benign	0.40
IGL01568:Gpr153	APN	4	152282368	splice site	probably null
IGL01672:Gpr153	APN	4	152279913	nonsense	probably null
R0735:Gpr153	UTSW	4	152279373	nonsense	probably null
R0925:Gpr153	UTSW	4	152281874	missense	probably benign
R1302:Gpr153	UTSW	4	152279943	missense	probably damaging	1.00
R1829:Gpr153	UTSW	4	152282392	missense	possibly damaging	0.70
R2041:Gpr153	UTSW	4	152283353	missense	probably benign
R4698:Gpr153	UTSW	4	152281783	missense	probably damaging	1.00
R5069:Gpr153	UTSW	4	152279883	missense	probably damaging	0.99
R5623:Gpr153	UTSW	4	152281941	missense	possibly damaging	0.89
R5800:Gpr153	UTSW	4	152280077	nonsense	probably null
R5940:Gpr153	UTSW	4	152283375	missense	probably benign	0.12
R6773:Gpr153	UTSW	4	152279300	missense	probably damaging	1.00
R6944:Gpr153	UTSW	4	152279363	missense	probably damaging	1.00
R7486:Gpr153	UTSW	4	152282401	missense	probably benign	0.01
R8170:Gpr153	UTSW	4	152280177	missense	probably damaging	1.00
R8699:Gpr153	UTSW	4	152279101	start gained	probably benign
R8701:Gpr153	UTSW	4	152279101	start gained	probably benign
R8732:Gpr153	UTSW	4	152279101	start gained	probably benign
R9383:Gpr153	UTSW	4	152283059	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACGAGCGAGCGTTTCTAC -3'
(R):5'- AGTGCTAACTGACAGCTCAAAAG -3'

Sequencing Primer
(F):5'- AGCGTTTCTACACCCACGG -3'
(R):5'- GTCAGGTTTATCATTTCAGCCATCAG -3'

Posted On

2021-11-19