Mutagenetix > Incidental Mutation

Incidental Mutation 'R0053:Gpr75'

64336

Institutional Source

Beutler Lab

Gene Symbol

Gpr75

Ensembl Gene

ENSMUSG00000043999

Gene Name

G protein-coupled receptor 75

Synonyms

MMRRC Submission

038347-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0053 (G1)

Quality Score

144

Status

Validated

Chromosome

Chromosomal Location

30835358-30843729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30842571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 492 (Q492L)

Ref Sequence

ENSEMBL: ENSMUSP00000105057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109430] [ENSMUST00000203878]

AlphaFold

Q6X632

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109430
AA Change: Q492L

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105057
Gene: ENSMUSG00000043999
AA Change: Q492L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	59	376	1.6e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203878

SMART Domains

Protein: ENSMUSP00000144900
Gene: ENSMUSG00000020305

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
ANK	48	77	3.5e-2	SMART
ANK	81	110	8e-3	SMART
ANK	117	146	4.8e-5	SMART
ANK	150	179	1.7e-7	SMART
ANK	184	213	1.8e-4	SMART
ANK	217	246	1.8e-6	SMART
ANK	250	279	1.2e-7	SMART
ANK	285	315	1.1e0	SMART
ANK	318	347	1.2e-3	SMART
ANK	354	385	7.7e-1	SMART
SOCS	493	542	2.8e-4	SMART
SOCS_box	499	541	1.6e-17	SMART

Meta Mutation Damage Score

0.0659

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.5%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GPR75 is a member of the G protein-coupled receptor family. GPRs are cell surface receptors that activate guanine-nucleotide binding proteins upon the binding of a ligand.[supplied by OMIM, Jul 2002]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	A	T	2: 163,574,212 (GRCm39)	V148D	probably damaging	Het
Alpi	T	C	1: 87,026,512 (GRCm39)	D493G	probably benign	Het
Atp10b	A	G	11: 43,107,391 (GRCm39)		probably benign	Het
AY761185	A	T	8: 21,434,546 (GRCm39)		probably benign	Het
Cadm1	C	T	9: 47,710,712 (GRCm39)	T205I	probably damaging	Het
Capn3	A	G	2: 120,322,318 (GRCm39)	I413V	possibly damaging	Het
Cblb	C	T	16: 51,963,164 (GRCm39)	T369I	probably damaging	Het
Ccdc54	T	A	16: 50,410,597 (GRCm39)	N223I	probably benign	Het
Cdc25c	A	G	18: 34,868,488 (GRCm39)	V294A	probably benign	Het
Cep170	A	T	1: 176,609,946 (GRCm39)	S122T	possibly damaging	Het
Chd1	A	G	17: 15,967,451 (GRCm39)	N849D	probably damaging	Het
Cspg4b	T	C	13: 113,505,023 (GRCm39)	W2051R	probably benign	Het
Dpp3	A	G	19: 4,973,154 (GRCm39)	C147R	probably damaging	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Fbxw9	T	A	8: 85,791,083 (GRCm39)	L250Q	probably damaging	Het
Gramd4	T	A	15: 86,014,339 (GRCm39)		probably benign	Het
Hivep2	T	C	10: 14,007,865 (GRCm39)	C1488R	probably damaging	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Inava	C	T	1: 136,155,288 (GRCm39)	V106I	probably benign	Het
Insr	A	G	8: 3,205,683 (GRCm39)	S1369P	probably damaging	Het
Insrr	A	C	3: 87,707,759 (GRCm39)	D67A	probably damaging	Het
Irf2	T	A	8: 47,271,886 (GRCm39)	Y158N	probably benign	Het
Katnbl1	A	G	2: 112,234,586 (GRCm39)	R23G	probably benign	Het
Lamb2	T	A	9: 108,363,936 (GRCm39)	C987*	probably null	Het
Lzts2	T	C	19: 45,014,746 (GRCm39)		probably benign	Het
Mmp14	T	A	14: 54,676,109 (GRCm39)		probably benign	Het
Mycbpap	A	G	11: 94,402,562 (GRCm39)	Y258H	probably damaging	Het
Nav3	A	G	10: 109,602,778 (GRCm39)		probably benign	Het
Or10j7	T	C	1: 173,011,845 (GRCm39)	D52G	probably benign	Het
Or4c100	T	A	2: 88,356,507 (GRCm39)	N193K	probably damaging	Het
Parp10	T	A	15: 76,126,446 (GRCm39)	L247F	probably damaging	Het
Pcsk6	C	T	7: 65,633,451 (GRCm39)		probably benign	Het
Pgap3	A	T	11: 98,281,924 (GRCm39)	V129D	probably benign	Het
Pibf1	A	G	14: 99,377,993 (GRCm39)	Y373C	probably damaging	Het
Plcb1	A	G	2: 135,136,835 (GRCm39)	E310G	probably benign	Het
Plin3	T	C	17: 56,586,892 (GRCm39)	D385G	probably damaging	Het
Pole	A	T	5: 110,441,206 (GRCm39)	D220V	probably damaging	Het
Ptprk	T	A	10: 28,351,105 (GRCm39)	F533I	probably damaging	Het
Resf1	T	A	6: 149,229,088 (GRCm39)	D711E	probably benign	Het
Rufy1	A	T	11: 50,292,292 (GRCm39)	M499K	probably benign	Het
Scn1a	T	G	2: 66,130,119 (GRCm39)	D1232A	probably benign	Het
Sec23ip	T	C	7: 128,346,891 (GRCm39)	L49P	probably damaging	Het
Sf3b1	G	A	1: 55,039,532 (GRCm39)	Q698*	probably null	Het
Shprh	A	T	10: 11,070,116 (GRCm39)		probably null	Het
Snd1	C	A	6: 28,745,334 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,862,644 (GRCm39)	A2260T	possibly damaging	Het
Stpg2	A	G	3: 138,918,082 (GRCm39)	Q60R	probably benign	Het
Strn	T	C	17: 78,964,363 (GRCm39)	H687R	possibly damaging	Het
Tgfb3	A	T	12: 86,124,603 (GRCm39)	I35N	probably damaging	Het
Tnks2	T	C	19: 36,852,765 (GRCm39)	S166P	probably damaging	Het
Tyw5	G	A	1: 57,440,597 (GRCm39)	T55M	probably damaging	Het
Usp19	A	G	9: 108,374,369 (GRCm39)		probably null	Het
Zfp13	A	T	17: 23,795,122 (GRCm39)	I483N	probably damaging	Het

Other mutations in Gpr75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Gpr75	APN	11	30,841,590 (GRCm39)	missense	probably damaging	1.00
IGL00787:Gpr75	APN	11	30,842,290 (GRCm39)	missense	probably benign	0.00
IGL01102:Gpr75	APN	11	30,841,755 (GRCm39)	missense	probably benign	0.41
IGL01790:Gpr75	APN	11	30,841,132 (GRCm39)	missense	probably damaging	0.97
IGL01975:Gpr75	APN	11	30,841,835 (GRCm39)	missense	probably benign	0.09
IGL02266:Gpr75	APN	11	30,841,977 (GRCm39)	missense	probably benign	0.01
IGL02338:Gpr75	APN	11	30,841,730 (GRCm39)	missense	probably benign	0.00
IGL02394:Gpr75	APN	11	30,842,190 (GRCm39)	missense	possibly damaging	0.92
IGL03208:Gpr75	APN	11	30,842,699 (GRCm39)	missense	probably damaging	1.00
Thinner	UTSW	11	30,841,527 (GRCm39)	missense	probably damaging	1.00
R0053:Gpr75	UTSW	11	30,842,571 (GRCm39)	missense	possibly damaging	0.71
R0449:Gpr75	UTSW	11	30,842,456 (GRCm39)	missense	probably damaging	0.99
R1289:Gpr75	UTSW	11	30,842,706 (GRCm39)	missense	probably benign	0.23
R1760:Gpr75	UTSW	11	30,841,527 (GRCm39)	missense	probably damaging	1.00
R3123:Gpr75	UTSW	11	30,841,709 (GRCm39)	missense	possibly damaging	0.82
R4669:Gpr75	UTSW	11	30,842,072 (GRCm39)	missense	probably damaging	1.00
R4704:Gpr75	UTSW	11	30,841,110 (GRCm39)	missense	probably benign
R4809:Gpr75	UTSW	11	30,842,154 (GRCm39)	missense	possibly damaging	0.74
R4913:Gpr75	UTSW	11	30,841,808 (GRCm39)	missense	possibly damaging	0.85
R4982:Gpr75	UTSW	11	30,841,463 (GRCm39)	missense	possibly damaging	0.96
R4982:Gpr75	UTSW	11	30,841,462 (GRCm39)	missense	probably damaging	1.00
R5071:Gpr75	UTSW	11	30,842,380 (GRCm39)	missense	probably damaging	1.00
R5318:Gpr75	UTSW	11	30,842,459 (GRCm39)	missense	probably benign	0.00
R6019:Gpr75	UTSW	11	30,841,640 (GRCm39)	missense	probably benign	0.39
R6199:Gpr75	UTSW	11	30,841,527 (GRCm39)	missense	probably damaging	1.00
R6455:Gpr75	UTSW	11	30,841,529 (GRCm39)	missense	probably damaging	1.00
R7188:Gpr75	UTSW	11	30,842,687 (GRCm39)	missense	probably damaging	1.00
R7826:Gpr75	UTSW	11	30,841,209 (GRCm39)	missense	probably damaging	0.99
R8053:Gpr75	UTSW	11	30,841,559 (GRCm39)	missense	probably benign	0.25
R8703:Gpr75	UTSW	11	30,841,890 (GRCm39)	missense	probably damaging	0.99
R8870:Gpr75	UTSW	11	30,841,860 (GRCm39)	missense	probably benign	0.00
R8930:Gpr75	UTSW	11	30,842,571 (GRCm39)	missense	possibly damaging	0.71
R8932:Gpr75	UTSW	11	30,842,571 (GRCm39)	missense	possibly damaging	0.71
Z1088:Gpr75	UTSW	11	30,841,139 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- CTCTGCTGCAAACAGAAAACTCGAC -3'
(R):5'- AACCATTCCCTCCAGACTCGCT -3'

Sequencing Primer
(F):5'- AGAAAACTCGACTTCGGGC -3'
(R):5'- ATAGTGCATGGCGATGTAGG -3'

Posted On

2013-08-06