Mutagenetix > Incidental Mutation

Incidental Mutation 'R7147:Gpr39'

553850

Institutional Source

Beutler Lab

Gene Symbol

Gpr39

Ensembl Gene

ENSMUSG00000026343

Gene Name

G protein-coupled receptor 39

Synonyms

4933415E13Rik

MMRRC Submission

045224-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7147 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125604732-125801599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125800238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 330 (D330N)

Ref Sequence

ENSEMBL: ENSMUSP00000027581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027581] [ENSMUST00000027582] [ENSMUST00000159417] [ENSMUST00000159529] [ENSMUST00000161361] [ENSMUST00000162899]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027581
AA Change: D330N

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027581
Gene: ENSMUSG00000026343
AA Change: D330N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027582

SMART Domains

Protein: ENSMUSP00000027582
Gene: ENSMUSG00000026344

Domain	Start	End	E-Value	Type
LU	24	122	5.18e-2	SMART
low complexity region	126	142	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159417

SMART Domains

Protein: ENSMUSP00000125149
Gene: ENSMUSG00000026344

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LU	23	121	2.5e-4	SMART
low complexity region	125	140	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159529

SMART Domains

Protein: ENSMUSP00000123824
Gene: ENSMUSG00000026344

Domain	Start	End	E-Value	Type
Blast:LU	1	69	4e-32	BLAST
low complexity region	73	89	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161361

Predicted Effect

probably benign
Transcript: ENSMUST00000162899

SMART Domains

Protein: ENSMUSP00000125158
Gene: ENSMUSG00000026344

Domain	Start	End	E-Value	Type
Blast:LU	1	69	4e-32	BLAST
low complexity region	73	89	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	C	T	14: 56,017,182 (GRCm39)	G303D	probably damaging	Het
Adgra3	C	T	5: 50,118,587 (GRCm39)	G987D	probably damaging	Het
Akap11	A	G	14: 78,748,905 (GRCm39)	S1161P		Het
Ampd3	G	A	7: 110,404,059 (GRCm39)	E528K	probably damaging	Het
Arl8b	G	A	6: 108,791,976 (GRCm39)	R79Q	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,141,500 (GRCm39)		probably benign	Het
Cald1	A	T	6: 34,723,231 (GRCm39)	Q105L		Het
Casd1	T	C	6: 4,624,187 (GRCm39)	Y327H	probably benign	Het
Chodl	T	A	16: 78,743,629 (GRCm39)	C239S	probably damaging	Het
D130043K22Rik	A	T	13: 25,066,546 (GRCm39)	H781L	probably benign	Het
Dlg1	A	T	16: 31,610,672 (GRCm39)	M318L	probably benign	Het
Dlgap1	T	C	17: 70,969,753 (GRCm39)	S520P	probably benign	Het
Dmxl2	T	C	9: 54,324,013 (GRCm39)	I950V	probably benign	Het
Dnah17	T	A	11: 117,985,755 (GRCm39)	T1441S	probably benign	Het
Dock7	A	T	4: 98,849,654 (GRCm39)	N1638K	unknown	Het
Ect2	A	T	3: 27,204,239 (GRCm39)	D23E	probably benign	Het
Ephx1	T	A	1: 180,829,384 (GRCm39)	T55S	probably damaging	Het
F11	T	C	8: 45,703,183 (GRCm39)	Y169C	probably damaging	Het
Fbxw27	A	G	9: 109,618,391 (GRCm39)		probably null	Het
Fhl5	T	A	4: 25,213,777 (GRCm39)		probably null	Het
Gm5145	G	A	17: 20,791,323 (GRCm39)	E234K	probably damaging	Het
Greb1	C	T	12: 16,783,428 (GRCm39)	R102H	probably damaging	Het
H4c17	A	G	13: 21,996,159 (GRCm39)	D69G	probably damaging	Het
Ighmbp2	T	C	19: 3,321,676 (GRCm39)	K361R	probably benign	Het
Inpp4b	A	G	8: 82,629,400 (GRCm39)	D245G	probably damaging	Het
Ints14	T	C	9: 64,891,267 (GRCm39)	V416A	possibly damaging	Het
Kif21a	A	G	15: 90,865,086 (GRCm39)	S529P	probably benign	Het
Limk1	A	G	5: 134,686,195 (GRCm39)	M609T	probably benign	Het
Lrrc75a	G	A	11: 62,496,795 (GRCm39)	P256S	probably damaging	Het
Mcc	T	C	18: 44,626,580 (GRCm39)	R339G	probably damaging	Het
Mdga1	C	T	17: 30,065,495 (GRCm39)	W371*	probably null	Het
Mei4	T	A	9: 81,809,649 (GRCm39)	L244Q	probably damaging	Het
Mical2	C	T	7: 111,922,810 (GRCm39)	P605L	possibly damaging	Het
Mrgprf	G	T	7: 144,862,128 (GRCm39)	R230L	possibly damaging	Het
Nlgn1	T	A	3: 26,187,509 (GRCm39)	R125S	probably benign	Het
Or52h7	A	G	7: 104,213,273 (GRCm39)		probably benign	Het
Papola	A	T	12: 105,774,897 (GRCm39)		probably benign	Het
Pold2	T	C	11: 5,823,095 (GRCm39)	D360G	probably benign	Het
Prr12	T	C	7: 44,683,274 (GRCm39)	R1797G	unknown	Het
Psmg2	C	T	18: 67,786,338 (GRCm39)	P233S	probably benign	Het
Ptprh	A	G	7: 4,553,781 (GRCm39)	W857R	probably damaging	Het
Raet1e	A	T	10: 22,057,179 (GRCm39)	M168L	probably benign	Het
Rhbdl2	A	T	4: 123,703,908 (GRCm39)	Y61F	probably damaging	Het
Sacm1l	A	G	9: 123,398,016 (GRCm39)	N236S	probably damaging	Het
Sbf2	A	T	7: 110,046,268 (GRCm39)	S310T	probably benign	Het
Sdr42e2	A	T	7: 120,412,238 (GRCm39)	R33S	probably damaging	Het
Sh3d19	T	A	3: 86,011,584 (GRCm39)	I390N	possibly damaging	Het
Slco3a1	A	G	7: 74,154,042 (GRCm39)	Y177H	probably damaging	Het
Smo	G	A	6: 29,758,448 (GRCm39)	G531D	possibly damaging	Het
Snx25	A	C	8: 46,558,233 (GRCm39)	V258G	probably damaging	Het
Spata31d1b	T	A	13: 59,866,028 (GRCm39)	S1059T	probably benign	Het
Srgap2	C	T	1: 131,238,332 (GRCm39)	C274Y		Het
Srrm1	A	G	4: 135,074,137 (GRCm39)	I48T	probably damaging	Het
Syne1	A	T	10: 5,199,340 (GRCm39)	V3719E	probably damaging	Het
Tcerg1	T	A	18: 42,683,128 (GRCm39)	M616K	probably benign	Het
Tgtp2	G	C	11: 48,950,135 (GRCm39)	R146G	probably damaging	Het
Tie1	A	T	4: 118,341,610 (GRCm39)	V234D	probably damaging	Het
Tom1	A	G	8: 75,783,895 (GRCm39)	N293S	probably damaging	Het
Trim13	A	T	14: 61,842,080 (GRCm39)	K32N	probably damaging	Het
Trim6	G	A	7: 103,874,777 (GRCm39)	V5I	probably benign	Het
Vps11	A	T	9: 44,266,379 (GRCm39)	L436*	probably null	Het
Vps50	C	T	6: 3,567,750 (GRCm39)	Q549*	probably null	Het
Vtcn1	T	A	3: 100,791,210 (GRCm39)	F83I	probably damaging	Het
Zfp131	T	C	13: 120,228,079 (GRCm39)	T523A	probably benign	Het
Zfp758	A	T	17: 22,594,981 (GRCm39)	Y489F	possibly damaging	Het
Zfp804a	T	C	2: 82,088,531 (GRCm39)	Y787H	probably benign	Het
Zfp9	C	T	6: 118,441,963 (GRCm39)	C233Y	probably damaging	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
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
R7887:Gpr39	UTSW	1	125,605,279 (GRCm39)	missense	probably damaging	0.99
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'- TTCTCGGCCAGTAAGCAAC -3'
(R):5'- TGGAGGAAGAGTTACTGCGC -3'

Sequencing Primer
(F):5'- ACCAAGGGGCTTAATATTTTATGGG -3'
(R):5'- AGAGTTACTGCGCCGGGAG -3'

Posted On

2019-05-15