Mutagenetix > Incidental Mutation

Incidental Mutation 'R7887:Gpr39'

609094

Institutional Source

Beutler Lab

Gene Symbol

Gpr39

Ensembl Gene

ENSMUSG00000026343

Gene Name

G protein-coupled receptor 39

Synonyms

4933415E13Rik

MMRRC Submission

045939-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125604732-125801599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 125605279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 69 (T69K)

Ref Sequence

ENSEMBL: ENSMUSP00000027581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027581]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027581
AA Change: T69K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027581
Gene: ENSMUSG00000026343
AA Change: T69K

Domain	Start	End	E-Value	Type
Pfam:7tm_1	47	344	1.2e-36	PFAM
low complexity region	397	406	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the ghrelin receptor family and encodes a rhodopsin-type G-protein-coupled receptor (GPCR). The encoded protein is involved in zinc-dependent signaling in epithelial tissue in intestines, prostate and salivary glands. The protein may also be involved in the pathophysiology of depression. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a null mutation display abnormal glucose homeostasis when fed a high sugar diet. Mice homozygous for a different null allele have accelerated gastric emptying, decreased fasting-induced hyperphagia, and increasedbody weight after oneyear of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh8	T	A	9: 3,385,343 (GRCm39)	I580N	probably damaging	Het
Ankrd35	C	T	3: 96,592,216 (GRCm39)	T834M	probably damaging	Het
Astn2	C	T	4: 65,563,103 (GRCm39)	V893I	possibly damaging	Het
B4galt1	A	G	4: 40,823,501 (GRCm39)	Y197H	probably benign	Het
Brdt	T	C	5: 107,507,799 (GRCm39)	S676P	possibly damaging	Het
Chrdl2	T	C	7: 99,678,457 (GRCm39)	V343A	possibly damaging	Het
Clcn3	A	T	8: 61,394,433 (GRCm39)	M59K	probably benign	Het
Cpne4	A	T	9: 104,909,990 (GRCm39)	N529I	probably damaging	Het
Crcp	G	T	5: 130,066,711 (GRCm39)	K32N	possibly damaging	Het
Ddx54	C	T	5: 120,765,268 (GRCm39)	R846C	probably damaging	Het
Dennd6a	T	C	14: 26,320,812 (GRCm39)	S118P	possibly damaging	Het
Egr3	A	G	14: 70,316,651 (GRCm39)	Y116C	probably damaging	Het
Fbxw25	A	G	9: 109,478,662 (GRCm39)		probably null	Het
Focad	T	G	4: 88,100,853 (GRCm39)	I313M	probably damaging	Het
Gm10272	C	T	10: 77,542,779 (GRCm39)	P107L	probably benign	Het
Gpr26	A	C	7: 131,568,702 (GRCm39)	I16L	probably benign	Het
Hacl1	C	T	14: 31,356,184 (GRCm39)	G97S	probably damaging	Het
Idh3b	A	C	2: 130,123,678 (GRCm39)	D136E	probably damaging	Het
Irf6	G	A	1: 192,850,040 (GRCm39)	V321M	probably damaging	Het
Klrg2	T	A	6: 38,613,506 (GRCm39)	T166S	probably damaging	Het
Lnx2	T	C	5: 146,955,853 (GRCm39)	I648V	probably damaging	Het
Mecr	A	G	4: 131,588,177 (GRCm39)		probably null	Het
Mnat1	T	A	12: 73,234,965 (GRCm39)	S205T	probably benign	Het
Mpnd	G	A	17: 56,318,097 (GRCm39)	G204D	probably benign	Het
Myh7	C	T	14: 55,221,119 (GRCm39)	E935K	possibly damaging	Het
Nid1	G	T	13: 13,674,318 (GRCm39)	R899L	possibly damaging	Het
Nisch	C	T	14: 30,898,652 (GRCm39)	W664*	probably null	Het
Nudt6	C	T	3: 37,466,529 (GRCm39)	V157I	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or51h7	A	C	7: 102,591,358 (GRCm39)	L142R	possibly damaging	Het
Or5l13	T	C	2: 87,780,224 (GRCm39)	M118V	probably damaging	Het
Or8g31-ps1	A	T	9: 39,276,175 (GRCm39)	M107L	unknown	Het
Parg	T	A	14: 31,939,619 (GRCm39)	D548E	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,764,204 (GRCm39)		probably null	Het
Phf11d	A	G	14: 59,597,029 (GRCm39)	Y57H	probably damaging	Het
Prkaca	T	C	8: 84,713,524 (GRCm39)	V99A	probably benign	Het
Rnf144b	T	A	13: 47,393,287 (GRCm39)	C209S	probably damaging	Het
Scly	G	A	1: 91,228,363 (GRCm39)		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sphkap	T	C	1: 83,255,133 (GRCm39)	Y872C	probably benign	Het
Ssh1	C	T	5: 114,099,410 (GRCm39)		probably null	Het
Strap	T	G	6: 137,716,807 (GRCm39)	L129V	possibly damaging	Het
Sympk	T	C	7: 18,768,364 (GRCm39)	I111T	possibly damaging	Het
Tprn	C	A	2: 25,154,024 (GRCm39)	A442E	probably damaging	Het
Tsen34	T	C	7: 3,697,707 (GRCm39)	L36P	probably damaging	Het
Ubr4	T	C	4: 139,135,121 (GRCm39)	F818L	probably damaging	Het
Uggt1	T	C	1: 36,247,115 (GRCm39)	Y294C	probably damaging	Het
Usp20	A	G	2: 30,910,906 (GRCm39)	K862E	probably benign	Het
Vmn1r201	A	T	13: 22,658,956 (GRCm39)	I57F	probably damaging	Het
Wdr64	C	T	1: 175,613,111 (GRCm39)	A662V	not run	Het

Other mutations in Gpr39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Gpr39	APN	1	125,800,468 (GRCm39)	missense	probably benign	0.00
IGL01593:Gpr39	APN	1	125,605,188 (GRCm39)	missense	probably benign	0.00
IGL03051:Gpr39	APN	1	125,605,485 (GRCm39)	missense	probably damaging	1.00
R0110:Gpr39	UTSW	1	125,605,237 (GRCm39)	missense	probably damaging	1.00
R0469:Gpr39	UTSW	1	125,605,237 (GRCm39)	missense	probably damaging	1.00
R1438:Gpr39	UTSW	1	125,800,093 (GRCm39)	utr 3 prime	probably benign
R1543:Gpr39	UTSW	1	125,800,161 (GRCm39)	missense	probably damaging	0.97
R1762:Gpr39	UTSW	1	125,800,286 (GRCm39)	missense	possibly damaging	0.93
R2105:Gpr39	UTSW	1	125,605,621 (GRCm39)	missense	possibly damaging	0.95
R2291:Gpr39	UTSW	1	125,605,278 (GRCm39)	missense	probably benign	0.13
R3708:Gpr39	UTSW	1	125,800,349 (GRCm39)	missense	probably damaging	1.00
R4281:Gpr39	UTSW	1	125,605,728 (GRCm39)	missense	probably benign	0.34
R4502:Gpr39	UTSW	1	125,605,728 (GRCm39)	missense	probably benign	0.34
R4503:Gpr39	UTSW	1	125,605,728 (GRCm39)	missense	probably benign	0.34
R4547:Gpr39	UTSW	1	125,605,728 (GRCm39)	missense	probably benign	0.34
R4548:Gpr39	UTSW	1	125,605,728 (GRCm39)	missense	probably benign	0.34
R5198:Gpr39	UTSW	1	125,605,173 (GRCm39)	missense	probably benign
R6148:Gpr39	UTSW	1	125,800,323 (GRCm39)	missense	probably damaging	1.00
R7059:Gpr39	UTSW	1	125,605,696 (GRCm39)	missense	probably damaging	1.00
R7083:Gpr39	UTSW	1	125,605,155 (GRCm39)	missense	probably damaging	0.99
R7147:Gpr39	UTSW	1	125,800,238 (GRCm39)	missense	possibly damaging	0.91
R7761:Gpr39	UTSW	1	125,605,249 (GRCm39)	missense	probably damaging	0.99
R7772:Gpr39	UTSW	1	125,605,334 (GRCm39)	missense	possibly damaging	0.83
R9262:Gpr39	UTSW	1	125,800,524 (GRCm39)	missense	probably benign	0.00
R9525:Gpr39	UTSW	1	125,800,323 (GRCm39)	missense	probably damaging	1.00
Z1176:Gpr39	UTSW	1	125,800,580 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTTCATCCAGTGGCTCCAAC -3'
(R):5'- GCAATGTAGCGCTCAAAGC -3'

Sequencing Primer
(F):5'- AACCACATCTGCTCCCGTG -3'
(R):5'- TGAGGGTCAGCACGTGCAG -3'

Posted On

2019-12-20