Incidental Mutation 'R1543:Gpr39'
ID171888
Institutional Source Beutler Lab
Gene Symbol Gpr39
Ensembl Gene ENSMUSG00000026343
Gene NameG protein-coupled receptor 39
Synonyms4933415E13Rik
MMRRC Submission 039582-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1543 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location125676995-125873862 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 125872424 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 304 (I304N)
Ref Sequence ENSEMBL: ENSMUSP00000027581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027581] [ENSMUST00000027582] [ENSMUST00000159417] [ENSMUST00000159529] [ENSMUST00000161361] [ENSMUST00000162899]
Predicted Effect probably damaging
Transcript: ENSMUST00000027581
AA Change: I304N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027581
Gene: ENSMUSG00000026343
AA Change: I304N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
LU 24 122 5.18e-2 SMART
low complexity region 126 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159359
Predicted Effect probably benign
Transcript: ENSMUST00000159417
SMART Domains Protein: ENSMUSP00000125149
Gene: ENSMUSG00000026344

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Blast:LU 1 69 4e-32 BLAST
low complexity region 73 89 N/A INTRINSIC
Meta Mutation Damage Score 0.4707 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.2%
Validation Efficiency 95% (77/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik G A 6: 40,968,204 V206I probably damaging Het
2610507B11Rik A G 11: 78,275,174 T1422A probably benign Het
4933425L06Rik A T 13: 105,112,369 R364* probably null Het
Abca8b A C 11: 109,974,674 M319R probably damaging Het
Abcc6 T C 7: 46,016,504 R231G probably benign Het
Acadm A G 3: 153,929,572 Y302H probably damaging Het
Acox3 C A 5: 35,603,008 R423S probably damaging Het
Adam7 T A 14: 68,521,922 probably benign Het
Adgrb3 A C 1: 25,488,088 M589R probably benign Het
Adgrl2 A C 3: 148,859,273 F224V probably damaging Het
Adm2 G C 15: 89,324,079 G74A probably damaging Het
Aen T A 7: 78,902,622 V15E probably damaging Het
Ankzf1 T A 1: 75,192,516 V22D possibly damaging Het
Arap2 T A 5: 62,606,155 K1549* probably null Het
Arhgef11 G A 3: 87,713,017 R430H probably benign Het
Asb17 T G 3: 153,844,511 L60W probably damaging Het
BC035044 T C 6: 128,890,985 probably benign Het
Cacna2d1 A T 5: 16,266,718 M254L possibly damaging Het
Celf6 T C 9: 59,603,877 probably benign Het
Coro2b C T 9: 62,425,841 V120I probably benign Het
Cyp20a1 C A 1: 60,376,194 probably benign Het
Cyp2c67 C A 19: 39,643,264 probably benign Het
Dclk3 A G 9: 111,468,054 H222R probably benign Het
Deaf1 A G 7: 141,324,147 S109P possibly damaging Het
Dlg5 T A 14: 24,144,448 D1675V probably damaging Het
Dsg2 T A 18: 20,594,211 V605E probably benign Het
Frem2 A T 3: 53,572,455 I1939N possibly damaging Het
Fsip2 A T 2: 82,981,587 Y2750F possibly damaging Het
Hdac7 G A 15: 97,809,529 probably benign Het
Hipk1 T C 3: 103,778,164 H45R probably benign Het
Hyal2 T C 9: 107,570,187 L13P probably damaging Het
Kdm1b C T 13: 47,068,521 R479W probably damaging Het
Lilr4b A G 10: 51,481,421 T118A probably damaging Het
Lin7a C A 10: 107,412,069 F78L possibly damaging Het
Lpin3 A G 2: 160,895,390 D119G possibly damaging Het
Lrp2 G A 2: 69,500,730 R1661C probably damaging Het
Lrrc45 A G 11: 120,720,018 K527E probably benign Het
Map10 C T 8: 125,670,872 P335S probably benign Het
Mast3 A G 8: 70,792,311 S2P possibly damaging Het
Mbtps1 A G 8: 119,542,069 probably benign Het
Mms22l T A 4: 24,591,084 N1018K probably benign Het
Nckipsd C A 9: 108,812,372 A244D possibly damaging Het
Olfr1294 A G 2: 111,537,797 V164A probably benign Het
Olfr3 A T 2: 36,813,057 F12I probably damaging Het
Olfr358 C A 2: 37,005,127 L162F probably damaging Het
Olfr592 T A 7: 103,187,214 F204L probably benign Het
Olfr876 T A 9: 37,803,947 I12N possibly damaging Het
Pcx A T 19: 4,602,223 D112V probably damaging Het
Phf14 G A 6: 11,987,683 probably null Het
Pkd1l1 A G 11: 8,901,200 I744T probably damaging Het
Ppip5k2 A G 1: 97,740,882 L560P probably damaging Het
Psmd14 A T 2: 61,785,530 M248L probably benign Het
Ryr1 T G 7: 29,083,537 E1884A possibly damaging Het
Scn4b T A 9: 45,150,429 S204R probably damaging Het
Slc12a1 A T 2: 125,184,857 M471L possibly damaging Het
Slc17a5 A G 9: 78,560,800 V236A probably benign Het
Sobp T C 10: 43,021,724 T622A probably damaging Het
Spata31d1a G T 13: 59,702,242 R691S probably benign Het
Speg A G 1: 75,421,951 E2014G probably damaging Het
Steap4 A G 5: 7,975,902 probably benign Het
Tas2r144 G A 6: 42,215,603 M92I probably benign Het
Tbc1d5 T C 17: 50,935,532 Q179R probably benign Het
Tcf25 T C 8: 123,388,587 Y188H probably benign Het
Tmem2 G T 19: 21,812,573 A668S probably benign Het
Tmem200a G A 10: 26,078,620 probably benign Het
Trappc9 G A 15: 73,025,967 R377W probably damaging Het
Tssk5 T C 15: 76,372,209 T337A probably benign Het
Ttc23 T C 7: 67,678,995 V228A probably benign Het
Tulp1 A T 17: 28,362,671 probably benign Het
Uqcc3 A G 19: 8,880,753 F25L probably damaging Het
Vmn2r1 G A 3: 64,089,573 G217S probably damaging Het
Vmn2r120 C T 17: 57,522,374 E508K probably benign Het
Wdfy3 C A 5: 101,844,081 V3451L probably benign Het
Wdr19 G A 5: 65,224,690 V418I probably benign Het
Wdr60 T C 12: 116,231,784 probably benign Het
Xirp2 C T 2: 67,508,039 T208I probably benign Het
Xpnpep1 A G 19: 52,991,676 V639A probably benign Het
Other mutations in Gpr39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Gpr39 APN 1 125872731 missense probably benign 0.00
IGL01593:Gpr39 APN 1 125677451 missense probably benign 0.00
IGL03051:Gpr39 APN 1 125677748 missense probably damaging 1.00
R0110:Gpr39 UTSW 1 125677500 missense probably damaging 1.00
R0469:Gpr39 UTSW 1 125677500 missense probably damaging 1.00
R1438:Gpr39 UTSW 1 125872356 utr 3 prime probably benign
R1762:Gpr39 UTSW 1 125872549 missense possibly damaging 0.93
R2105:Gpr39 UTSW 1 125677884 missense possibly damaging 0.95
R2291:Gpr39 UTSW 1 125677541 missense probably benign 0.13
R3708:Gpr39 UTSW 1 125872612 missense probably damaging 1.00
R4281:Gpr39 UTSW 1 125677991 missense probably benign 0.34
R4502:Gpr39 UTSW 1 125677991 missense probably benign 0.34
R4503:Gpr39 UTSW 1 125677991 missense probably benign 0.34
R4547:Gpr39 UTSW 1 125677991 missense probably benign 0.34
R4548:Gpr39 UTSW 1 125677991 missense probably benign 0.34
R5198:Gpr39 UTSW 1 125677436 missense probably benign
R6148:Gpr39 UTSW 1 125872586 missense probably damaging 1.00
R7059:Gpr39 UTSW 1 125677959 missense probably damaging 1.00
R7083:Gpr39 UTSW 1 125677418 missense probably damaging 0.99
R7147:Gpr39 UTSW 1 125872501 missense possibly damaging 0.91
R7761:Gpr39 UTSW 1 125677512 missense probably damaging 0.99
R7772:Gpr39 UTSW 1 125677597 missense possibly damaging 0.83
R7887:Gpr39 UTSW 1 125677542 missense probably damaging 0.99
R7970:Gpr39 UTSW 1 125677542 missense probably damaging 0.99
Z1176:Gpr39 UTSW 1 125872843 missense not run
Predicted Primers PCR Primer
(F):5'- TACCGTTTCTCGGCCAGTAAGCAAC -3'
(R):5'- AGTCTGTGGTGACTCAGGACTCAAG -3'

Sequencing Primer
(F):5'- CGGCCAGTAAGCAACAGAAC -3'
(R):5'- GCTTGGCCTCAGTCTGAAAAG -3'
Posted On2014-04-13