Mutagenetix > Incidental Mutation

Incidental Mutation 'R1829:Gpr153'

207091

Institutional Source

Beutler Lab

Gene Symbol

Gpr153

Ensembl Gene

ENSMUSG00000042804

Gene Name

G protein-coupled receptor 153

Synonyms

PGR1, 1110065N12Rik

MMRRC Submission

039856-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1829 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152358689-152369794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152366849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 334 (I334N)

Ref Sequence

ENSEMBL: ENSMUSP00000101276 (fasta)

Gene Model

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

AlphaFold

Q8K0Z9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055754
AA Change: I334N

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000052742
Gene: ENSMUSG00000042804
AA Change: I334N

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

possibly damaging
Transcript: ENSMUST00000105650
AA Change: I334N

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101275
Gene: ENSMUSG00000042804
AA Change: I334N

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

possibly damaging
Transcript: ENSMUST00000105651
AA Change: I334N

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101276
Gene: ENSMUSG00000042804
AA Change: I334N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218045

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	T	8: 111,769,338 (GRCm39)	D287V	probably damaging	Het
Abca12	A	G	1: 71,334,188 (GRCm39)	C1105R	probably benign	Het
Abca8b	T	A	11: 109,833,167 (GRCm39)	N1178Y	probably damaging	Het
Abhd12	A	G	2: 150,685,318 (GRCm39)	L189P	probably damaging	Het
Acap2	G	T	16: 30,929,752 (GRCm39)	N435K	probably damaging	Het
Adam6b	G	T	12: 113,453,545 (GRCm39)	G121C	probably damaging	Het
Adgrb1	C	A	15: 74,452,435 (GRCm39)	C200*	probably null	Het
Agbl5	T	C	5: 31,060,408 (GRCm39)	S730P	possibly damaging	Het
Ahsg	G	A	16: 22,711,078 (GRCm39)		probably benign	Het
Aldh9a1	A	T	1: 167,189,423 (GRCm39)	K390N	probably benign	Het
Alpk2	T	A	18: 65,427,165 (GRCm39)	H1857L	possibly damaging	Het
Apip	T	A	2: 102,919,007 (GRCm39)	N102K	probably benign	Het
Asxl2	T	C	12: 3,507,125 (GRCm39)	S106P	probably damaging	Het
Atp2b2	G	T	6: 113,750,329 (GRCm39)	R677S	probably damaging	Het
Barhl1	A	C	2: 28,799,857 (GRCm39)	M256R	probably damaging	Het
Cacnb2	A	T	2: 14,990,775 (GRCm39)	Q619L	possibly damaging	Het
Ccdc137	C	T	11: 120,349,038 (GRCm39)	P23L	probably benign	Het
Cdh11	A	T	8: 103,361,273 (GRCm39)	N688K	possibly damaging	Het
Cdh18	C	T	15: 23,173,938 (GRCm39)	P51S	probably damaging	Het
Cdin1	G	T	2: 115,473,173 (GRCm39)	R101L	possibly damaging	Het
Cfhr1	A	T	1: 139,481,338 (GRCm39)	Y181N	probably damaging	Het
Chmp3	A	G	6: 71,537,923 (GRCm39)	D50G	probably benign	Het
Crem	T	C	18: 3,295,037 (GRCm39)		probably null	Het
Cyb561a3	G	A	19: 10,559,757 (GRCm39)	W27*	probably null	Het
Cyp2d12	C	A	15: 82,442,257 (GRCm39)	N297K	possibly damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnah12	T	A	14: 26,522,032 (GRCm39)	N1948K	probably damaging	Het
Dnah12	T	C	14: 26,494,980 (GRCm39)	L1346P	probably damaging	Het
Dsp	T	G	13: 38,377,171 (GRCm39)	L1652R	probably damaging	Het
Dstyk	G	A	1: 132,377,333 (GRCm39)	S66N	probably benign	Het
Ehhadh	T	C	16: 21,580,928 (GRCm39)	E688G	probably damaging	Het
Emsy	G	T	7: 98,251,937 (GRCm39)	H688N	possibly damaging	Het
Emsy	T	A	7: 98,251,936 (GRCm39)	H688L	possibly damaging	Het
Endod1	A	G	9: 14,268,222 (GRCm39)	L421P	probably damaging	Het
Fam222b	C	T	11: 78,045,861 (GRCm39)	P346L	probably damaging	Het
Fam3c	G	A	6: 22,309,436 (GRCm39)	R182W	probably damaging	Het
Gck	T	C	11: 5,860,984 (GRCm39)	D29G	probably damaging	Het
Gm10320	C	A	13: 98,626,207 (GRCm39)	R59L	probably damaging	Het
Gm21798	C	T	15: 64,689,675 (GRCm39)		probably benign	Het
Gm9376	A	G	14: 118,504,957 (GRCm39)	T130A	possibly damaging	Het
Greb1l	T	C	18: 10,509,314 (GRCm39)	L542P	probably damaging	Het
H2-T15	G	T	17: 36,368,896 (GRCm39)	F61L	probably damaging	Het
Hacl1	T	C	14: 31,362,491 (GRCm39)	E52G	probably benign	Het
Ice2	A	G	9: 69,314,635 (GRCm39)	Y128C	probably damaging	Het
Ikzf2	T	A	1: 69,581,446 (GRCm39)	I121L	probably benign	Het
Ipcef1	C	T	10: 6,869,900 (GRCm39)	A167T	probably benign	Het
Jakmip2	T	A	18: 43,715,145 (GRCm39)	D127V	possibly damaging	Het
Jph4	T	C	14: 55,352,368 (GRCm39)	T122A	probably damaging	Het
Kcns2	A	G	15: 34,838,949 (GRCm39)	E104G	probably damaging	Het
Lars2	A	C	9: 123,260,982 (GRCm39)	R384S	probably benign	Het
Lsmem1	T	A	12: 40,235,407 (GRCm39)	H3L	possibly damaging	Het
Lsmem1	G	T	12: 40,235,408 (GRCm39)	H3N	possibly damaging	Het
Ly6g2	T	G	15: 75,088,605 (GRCm39)		probably null	Het
Mfhas1	A	C	8: 36,057,222 (GRCm39)	S566R	probably benign	Het
Mfhas1	C	G	8: 36,057,402 (GRCm39)	R626G	probably benign	Het
Mgam	A	G	6: 40,643,826 (GRCm39)	T585A	probably damaging	Het
Mmp25	T	C	17: 23,858,997 (GRCm39)	K185E	probably benign	Het
Mtch1	T	C	17: 29,557,750 (GRCm39)	I243V	probably damaging	Het
Mtcp1	A	T	X: 74,455,271 (GRCm39)	Y25*	probably null	Het
Mybl2	A	G	2: 162,901,503 (GRCm39)	T35A	probably benign	Het
Myh11	T	C	16: 14,041,744 (GRCm39)	E736G	probably damaging	Het
Myh2	T	C	11: 67,067,385 (GRCm39)	I224T	probably damaging	Het
Mymx	T	C	17: 45,912,759 (GRCm39)		probably benign	Het
Nek10	A	G	14: 14,863,454 (GRCm38)		probably null	Het
Nsd1	A	T	13: 55,394,182 (GRCm39)	K697N	probably damaging	Het
Nynrin	A	G	14: 56,110,404 (GRCm39)	D1837G	possibly damaging	Het
Or14j4	G	A	17: 37,921,168 (GRCm39)	T158I	probably benign	Het
Or2ag2b	A	G	7: 106,418,214 (GRCm39)	H308R	probably benign	Het
Or52s1	A	T	7: 102,861,093 (GRCm39)	T9S	probably benign	Het
Or5p81	T	A	7: 108,266,851 (GRCm39)	I76N	probably benign	Het
Or6k4	T	A	1: 173,964,760 (GRCm39)	I150N	probably benign	Het
Pgap6	T	C	17: 26,341,194 (GRCm39)	Y766H	probably damaging	Het
Phf19	T	C	2: 34,801,781 (GRCm39)	T10A	probably benign	Het
Pkd1	A	T	17: 24,784,558 (GRCm39)	H368L	probably benign	Het
Plscr2	A	G	9: 92,172,808 (GRCm39)	R156G	probably damaging	Het
Ppp1r42	G	A	1: 10,070,311 (GRCm39)	R61C	probably benign	Het
Pptc7	T	G	5: 122,451,679 (GRCm39)	V45G	probably damaging	Het
Prlhr	G	A	19: 60,455,867 (GRCm39)	T233I	probably damaging	Het
Prr23a4	T	A	9: 98,785,446 (GRCm39)	I37N	possibly damaging	Het
Reps1	C	T	10: 17,983,462 (GRCm39)	T435I	probably damaging	Het
Ret	T	A	6: 118,130,912 (GRCm39)	T1084S	probably damaging	Het
Rgl2	T	A	17: 34,152,595 (GRCm39)	M402K	probably benign	Het
Rp2	A	G	X: 20,243,154 (GRCm39)	K43R	probably benign	Het
Rundc3b	A	T	5: 8,629,117 (GRCm39)	W95R	probably damaging	Het
Samd9l	T	C	6: 3,375,107 (GRCm39)	D718G	possibly damaging	Het
Scnn1b	G	A	7: 121,502,068 (GRCm39)	R242H	probably benign	Het
Smad4	G	T	18: 73,774,965 (GRCm39)	Q445K	probably benign	Het
Smchd1	G	T	17: 71,677,332 (GRCm39)	P1486T	probably damaging	Het
Snx25	G	T	8: 46,488,669 (GRCm39)	N895K	possibly damaging	Het
Sox2	A	G	3: 34,704,890 (GRCm39)	D109G	probably damaging	Het
Stfa2	A	T	16: 36,225,564 (GRCm39)	N38K	probably damaging	Het
Stfa2	C	A	16: 36,225,573 (GRCm39)	E35D	possibly damaging	Het
Stfa3	A	G	16: 36,271,023 (GRCm39)	L87P	probably damaging	Het
Strbp	T	C	2: 37,530,921 (GRCm39)	D111G	possibly damaging	Het
Supt20	C	A	3: 54,635,079 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,096,310 (GRCm39)	Y1437H	possibly damaging	Het
Tbx4	T	A	11: 85,802,746 (GRCm39)		probably null	Het
Tmem117	A	T	15: 94,992,432 (GRCm39)	N364I	probably damaging	Het
Trat1	T	C	16: 48,581,742 (GRCm39)	E45G	probably damaging	Het
Trpc2	G	A	7: 101,733,326 (GRCm39)	D92N	probably damaging	Het
Trpm1	G	A	7: 63,876,530 (GRCm39)	D528N	probably damaging	Het
Ttll9	A	G	2: 152,842,156 (GRCm39)	S337G	possibly damaging	Het
Utrn	A	T	10: 12,351,018 (GRCm39)	I355N	probably damaging	Het
Vangl1	A	G	3: 102,070,782 (GRCm39)	S385P	probably benign	Het
Vmn1r209	A	G	13: 22,990,409 (GRCm39)	S94P	possibly damaging	Het
Vmn2r28	T	A	7: 5,496,810 (GRCm39)	Q14L	probably benign	Het
Vps45	A	G	3: 95,954,557 (GRCm39)		probably null	Het
Wdr48	T	C	9: 119,733,396 (GRCm39)	V81A	probably benign	Het
Xpnpep2	A	G	X: 47,214,230 (GRCm39)	N476S	probably benign	Het
Zbtb41	A	T	1: 139,374,660 (GRCm39)	K707*	probably null	Het
Zfp442	A	C	2: 150,250,983 (GRCm39)	C306W	probably damaging	Het
Zfp811	T	C	17: 33,017,116 (GRCm39)	N307S	possibly damaging	Het
Zfp976	A	G	7: 42,265,735 (GRCm39)	W17R	probably damaging	Het
Zyg11b	T	C	4: 108,123,290 (GRCm39)	T226A	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
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
R7486:Gpr153	UTSW	4	152,366,858 (GRCm39)	missense	probably benign	0.01
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'- ACATGAGGTTCCTCTGCTCTG -3'

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

Posted On

2014-06-23