Mutagenetix > Incidental Mutation

Incidental Mutation 'R6944:Gpr153'

540759

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 #

R6944 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152274232-152285337 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152279363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 80 (E80G)

Ref Sequence

ENSEMBL: ENSMUSP00000101276 (fasta)

Gene Model

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

AlphaFold

Q8K0Z9

Predicted Effect

probably damaging
Transcript: ENSMUST00000055754
AA Change: E80G

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

SMART Domains

Protein: ENSMUSP00000052742
Gene: ENSMUSG00000042804
AA Change: E80G

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: E80G

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

SMART Domains

Protein: ENSMUSP00000101275
Gene: ENSMUSG00000042804
AA Change: E80G

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: E80G

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

SMART Domains

Protein: ENSMUSP00000101276
Gene: ENSMUSG00000042804
AA Change: E80G

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

Meta Mutation Damage Score

0.5830

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	C	10: 82,296,222	I318R	probably benign	Het
Abcb1b	T	G	5: 8,813,693	V216G	probably damaging	Het
Abcb5	T	C	12: 118,911,530	R636G	probably benign	Het
Ago1	G	T	4: 126,460,422	F198L	possibly damaging	Het
Ankrd42	C	T	7: 92,619,547		probably null	Het
Anxa11	T	A	14: 25,874,752	F274I	probably damaging	Het
Ascc1	T	C	10: 60,013,653	L122P	probably damaging	Het
Bptf	T	C	11: 107,080,823	S953G	probably damaging	Het
Chml	T	A	1: 175,688,161	N65Y	probably damaging	Het
Clcc1	A	G	3: 108,670,968	K262E	probably damaging	Het
Clhc1	T	G	11: 29,569,346	D384E	probably damaging	Het
Cnot2	G	A	10: 116,537,223		probably benign	Het
Cntnap1	T	C	11: 101,182,904	V627A	probably damaging	Het
Col6a4	A	G	9: 106,072,171	V755A	probably damaging	Het
Cyp4f18	T	A	8: 71,989,894	I406F	probably benign	Het
Dclre1a	T	C	19: 56,545,019	E381G	possibly damaging	Het
Dnah1	A	G	14: 31,268,904	Y3153H	probably damaging	Het
Dnah8	C	A	17: 30,794,659	D3791E	probably benign	Het
Dnah9	T	C	11: 66,085,149	E1358G	possibly damaging	Het
Eef1g	G	A	19: 8,968,292	R30H	probably benign	Het
Egln3	A	T	12: 54,183,952	I181N	probably benign	Het
Entpd6	A	G	2: 150,763,599	T250A	probably damaging	Het
Epb41l5	C	T	1: 119,609,129	R344Q	probably damaging	Het
Fam20b	T	C	1: 156,687,521	D258G	probably benign	Het
Fbxw18	A	T	9: 109,702,587	D21E	probably damaging	Het
Fbxw21	T	C	9: 109,157,535	E92G	probably damaging	Het
Fzd6	T	A	15: 39,025,817	M110K	possibly damaging	Het
Gm4070	G	A	7: 105,901,980	Q622*	probably null	Het
Gm9268	T	C	7: 43,047,969	F817L	possibly damaging	Het
Golgb1	C	T	16: 36,912,113	P574L	probably benign	Het
Kcnt1	T	C	2: 25,877,828		probably benign	Het
Kcnt2	T	G	1: 140,584,065	V962G	probably benign	Het
Malt1	T	C	18: 65,437,920	V109A	probably benign	Het
March7	A	G	2: 60,234,243	I288V	probably benign	Het
Mief1	C	T	15: 80,249,443	R234C	probably damaging	Het
Morc3	A	G	16: 93,870,572	S613G	probably benign	Het
Myt1	A	G	2: 181,797,594	E345G	possibly damaging	Het
Napb	T	C	2: 148,706,969	T133A	probably benign	Het
Nwd1	T	C	8: 72,653,534	V16A	possibly damaging	Het
Oas1f	G	A	5: 120,848,184	E67K	probably benign	Het
Obscn	T	C	11: 59,038,930	K5153R	probably damaging	Het
Olfr1441	G	T	19: 12,423,264	M318I	probably benign	Het
Olfr154	C	T	2: 85,663,851	M194I	probably benign	Het
Olfr212	T	C	6: 116,515,830	F18L	possibly damaging	Het
Olfr317	T	A	11: 58,732,242	S308C	possibly damaging	Het
Pdcd2	T	C	17: 15,525,370	N185S	possibly damaging	Het
Pgap1	A	T	1: 54,530,161	W349R	probably damaging	Het
Prpf39	T	A	12: 65,042,680	V64E	probably benign	Het
Ptpn13	T	A	5: 103,476,991	W54R	probably null	Het
Rbms3	G	T	9: 117,110,105	P29Q	probably damaging	Het
Rnf123	A	G	9: 108,063,623	L679P	probably benign	Het
Samd4	T	A	14: 47,016,635	D84E	possibly damaging	Het
Scarf1	T	C	11: 75,522,206	V426A	probably benign	Het
Slc12a1	A	G	2: 125,160,534	N145D	probably damaging	Het
Slc2a6	A	T	2: 27,026,064	M99K	probably damaging	Het
Slc34a2	A	T	5: 53,064,883	I306L	probably benign	Het
Slx4ip	A	G	2: 137,068,275	K397E	probably damaging	Het
Smr3a	C	T	5: 88,008,090		probably benign	Het
Spef2	T	C	15: 9,592,749	E1502G	probably damaging	Het
Sri	A	T	5: 8,063,365	T119S	probably benign	Het
Synrg	T	A	11: 84,025,086	L1085H	probably damaging	Het
Taf7	A	T	18: 37,642,857	L219H	probably damaging	Het
Tmco3	T	A	8: 13,303,729	V347E	probably damaging	Het
Tmem8b	A	T	4: 43,674,465	I250F	probably damaging	Het
Tom1l2	A	G	11: 60,248,991	V239A	probably damaging	Het
Trpm1	T	A	7: 64,243,433	M1011K	probably damaging	Het
Tspan9	A	T	6: 127,965,806	Y153N	probably benign	Het
Ttll11	T	C	2: 35,752,294	H675R	probably benign	Het
Unc50	C	T	1: 37,432,662	T131M	probably damaging	Het
Vgf	T	A	5: 137,032,352	I456N	probably damaging	Het
Vmn1r223	A	G	13: 23,249,313	I26V	unknown	Het
Vmn1r39	T	C	6: 66,805,221	M1V	probably null	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r14	T	C	5: 109,216,059	T664A	probably benign	Het
Vmn2r14	G	A	5: 109,216,274	T592I	probably benign	Het
Vmn2r96	T	A	17: 18,597,629	F489L	probably benign	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
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
R9047:Gpr153	UTSW	4	152280207	missense	probably damaging	1.00
R9383:Gpr153	UTSW	4	152283059	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCAGAGTCCTCACCAAGTG -3'
(R):5'- TACACCAGGCATGCCTTTGC -3'

Sequencing Primer
(F):5'- AGCTCCAGTCTGCACCATGAG -3'
(R):5'- GCATGCCTTTGCCTCAAG -3'

Posted On

2018-11-28