Mutagenetix > Incidental Mutation

Incidental Mutation 'R5940:Gpr153'

529361

Institutional Source

Beutler Lab

Gene Symbol

Gpr153

Ensembl Gene

ENSMUSG00000042804

Gene Name

G protein-coupled receptor 153

Synonyms

PGR1, 1110065N12Rik

MMRRC Submission

044132-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5940 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

152358689-152369794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 152367832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 561 (P561Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101276 (fasta)

Gene Model

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

AlphaFold

Q8K0Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000055754
AA Change: P561Q

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000052742
Gene: ENSMUSG00000042804
AA Change: P561Q

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: P538Q

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101275
Gene: ENSMUSG00000042804
AA Change: P538Q

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: P561Q

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101276
Gene: ENSMUSG00000042804
AA Change: P561Q

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

96% (88/92)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,645 (GRCm39)	Y440C	possibly damaging	Het
Aasdh	G	T	5: 77,030,745 (GRCm39)	S618R	probably benign	Het
Alpk1	T	G	3: 127,464,595 (GRCm39)	T1228P	probably benign	Het
Ank3	T	C	10: 69,756,316 (GRCm39)	V850A	probably benign	Het
Apeh	A	T	9: 107,969,098 (GRCm39)		probably null	Het
Ash1l	C	T	3: 88,891,343 (GRCm39)	T1074I	probably damaging	Het
C3	G	A	17: 57,517,244 (GRCm39)	S1297F	possibly damaging	Het
Cchcr1	G	A	17: 35,835,890 (GRCm39)	R284Q	probably damaging	Het
Cd93	A	T	2: 148,284,152 (GRCm39)	I398N	probably benign	Het
Cdcp3	A	T	7: 130,839,992 (GRCm39)	D638V	probably damaging	Het
Chrd	G	T	16: 20,553,336 (GRCm39)	R226L	probably null	Het
Clvs1	A	T	4: 9,449,443 (GRCm39)	N344I	possibly damaging	Het
Cyp4v3	A	T	8: 45,774,821 (GRCm39)	I111N	probably damaging	Het
Cysltr2	T	A	14: 73,267,389 (GRCm39)	Y107F	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Czib	A	G	4: 107,750,485 (GRCm39)		probably benign	Het
Defb47	A	T	14: 63,238,359 (GRCm39)	E28D	probably benign	Het
Dnajc30	T	A	5: 135,093,413 (GRCm39)	Y103*	probably null	Het
Drap1	T	C	19: 5,473,028 (GRCm39)	T160A	probably benign	Het
Dsp	A	G	13: 38,380,002 (GRCm39)	E2249G	possibly damaging	Het
E2f8	T	A	7: 48,520,825 (GRCm39)	I499F	probably benign	Het
Ebf1	T	A	11: 44,512,048 (GRCm39)	Y116N	probably damaging	Het
Ecrg4	C	T	1: 43,776,401 (GRCm39)	R41*	probably null	Het
Ect2	C	A	3: 27,169,614 (GRCm39)	E746D	probably benign	Het
Enpep	T	A	3: 129,106,227 (GRCm39)	Y333F	probably damaging	Het
Fat4	T	C	3: 38,943,798 (GRCm39)	V897A	probably benign	Het
Gja3	T	A	14: 57,273,317 (GRCm39)	S352C	probably damaging	Het
Hlcs	T	C	16: 93,935,571 (GRCm39)	M574V	probably damaging	Het
Hmcn1	A	G	1: 150,532,973 (GRCm39)	V3070A	probably benign	Het
Hsd3b2	G	T	3: 98,619,287 (GRCm39)	N219K	probably benign	Het
Htra3	T	C	5: 35,810,324 (GRCm39)	I453V	possibly damaging	Het
Klrc1	A	T	6: 129,651,898 (GRCm39)	M220K	possibly damaging	Het
Kntc1	T	G	5: 123,924,258 (GRCm39)	I1048S	probably benign	Het
Lrrc37	T	C	11: 103,504,712 (GRCm39)	S243G	probably benign	Het
Macf1	T	A	4: 123,326,674 (GRCm39)	D2822V	probably damaging	Het
Mcu	T	A	10: 59,292,554 (GRCm39)	I42F	possibly damaging	Het
Mkln1	T	A	6: 31,466,307 (GRCm39)	D521E	probably damaging	Het
Ms4a13	T	C	19: 11,170,330 (GRCm39)	N5D	possibly damaging	Het
Msh3	T	G	13: 92,386,351 (GRCm39)	N838T	probably damaging	Het
Msl2	T	A	9: 100,978,290 (GRCm39)	C221*	probably null	Het
Ncapd2	A	G	6: 125,145,832 (GRCm39)	S1310P	probably benign	Het
Ncoa6	A	T	2: 155,257,785 (GRCm39)	M586K	probably damaging	Het
Ndel1	C	T	11: 68,713,397 (GRCm39)		probably benign	Het
Ndst4	T	C	3: 125,355,068 (GRCm39)		probably benign	Het
Nes	T	G	3: 87,883,259 (GRCm39)	V506G	probably damaging	Het
Nrg1	T	C	8: 32,339,372 (GRCm39)	K200E	probably damaging	Het
Nt5c1b	A	G	12: 10,425,515 (GRCm39)	K295E	probably damaging	Het
Or4f54	G	A	2: 111,122,729 (GRCm39)	V39M	possibly damaging	Het
Or5b123	T	A	19: 13,596,517 (GRCm39)		probably null	Het
Or6s1	T	A	14: 51,308,179 (GRCm39)	I224L	probably damaging	Het
Or8b4	C	T	9: 37,830,733 (GRCm39)	T260I	probably damaging	Het
Or8g51	G	T	9: 38,609,007 (GRCm39)	Y218*	probably null	Het
Or8k38	A	T	2: 86,488,394 (GRCm39)	M136K	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pde1a	A	G	2: 79,718,183 (GRCm39)		probably null	Het
Pds5a	A	G	5: 65,801,328 (GRCm39)		probably benign	Het
Plbd1	A	T	6: 136,590,719 (GRCm39)		probably benign	Het
Plod2	T	A	9: 92,473,450 (GRCm39)	V292E	probably benign	Het
Polg	A	G	7: 79,103,819 (GRCm39)	V879A	possibly damaging	Het
Ppargc1a	C	T	5: 51,631,253 (GRCm39)	A459T	probably damaging	Het
Prorp	T	A	12: 55,351,659 (GRCm39)	W323R	probably damaging	Het
Psip1	T	C	4: 83,394,559 (GRCm39)	E83G	probably damaging	Het
Rhbdf1	T	C	11: 32,159,847 (GRCm39)	D843G	probably benign	Het
Rnpepl1	G	T	1: 92,845,434 (GRCm39)	C451F	probably damaging	Het
Rrp1	T	C	10: 78,241,249 (GRCm39)	D206G	probably damaging	Het
Setbp1	A	T	18: 78,798,703 (GRCm39)	D1492E	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc16a6	C	T	11: 109,364,022 (GRCm39)		probably benign	Homo
Slc7a6os	A	G	8: 106,937,437 (GRCm39)	S37P	probably damaging	Het
Tenm4	T	A	7: 96,495,102 (GRCm39)	S1140T	probably damaging	Het
Thoc6	C	A	17: 23,889,315 (GRCm39)	R115L	probably benign	Het
Tmem63c	C	T	12: 87,121,946 (GRCm39)	H385Y	probably benign	Het
Trpm8	G	T	1: 88,279,137 (GRCm39)	E649*	probably null	Het
Usf1	A	G	1: 171,245,347 (GRCm39)	E253G	possibly damaging	Het
Vps13d	T	C	4: 144,801,545 (GRCm39)	T443A	probably benign	Het
Wdr86	T	C	5: 24,927,660 (GRCm39)	Y93C	probably damaging	Het
Zfp597	A	T	16: 3,683,685 (GRCm39)	I357N	probably damaging	Het
Zfp709	A	G	8: 72,644,064 (GRCm39)	I497V	possibly damaging	Het
Zxdc	T	C	6: 90,347,307 (GRCm39)	S223P	probably 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
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'- TGGCACACTTAATGCTGCC -3'
(R):5'- ACACCTGTGGGAGCATCTTTG -3'

Sequencing Primer
(F):5'- AGAGCCTGTTGTCCCTGCAG -3'
(R):5'- AGTGCAGCGTGACGTAGC -3'

Posted On

2018-07-31