Mutagenetix > Incidental Mutation

Incidental Mutation 'R5252:Gpr139'

399106

Institutional Source

Beutler Lab

Gene Symbol

Gpr139

Ensembl Gene

ENSMUSG00000066197

Gene Name

G protein-coupled receptor 139

Synonyms

LOC209776, GPRg1

MMRRC Submission

042823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5252 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118739970-118783761 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118744427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 53 (S53P)

Ref Sequence

ENSEMBL: ENSMUSP00000081700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084650]

AlphaFold

Q80UC8

Predicted Effect

probably benign
Transcript: ENSMUST00000084650
AA Change: S53P

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000081700
Gene: ENSMUSG00000066197
AA Change: S53P

Domain	Start	End	E-Value	Type
Pfam:7tm_1	35	277	2.9e-18	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the rhodopsin family of G-protein-coupled receptors. The encoded protein is almost exclusively expressed in the central nervous system. L-tryptophan and L-phenylalanine may act as the physiologic ligands of the encoded protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	G	T	11: 69,056,762 (GRCm39)	R386L	probably damaging	Het
Ano8	A	T	8: 71,935,261 (GRCm39)	Y346N	probably damaging	Het
Cabp4	T	C	19: 4,186,067 (GRCm39)		probably benign	Het
Canx	A	T	11: 50,199,621 (GRCm39)	I148N	probably damaging	Het
Ccdc141	A	G	2: 76,962,593 (GRCm39)	V117A	probably benign	Het
Cdk12	A	T	11: 98,134,335 (GRCm39)	N1078Y	unknown	Het
Cdk7	T	A	13: 100,866,968 (GRCm39)	K42*	probably null	Het
Col6a5	T	C	9: 105,817,489 (GRCm39)	D274G	unknown	Het
Cux1	T	C	5: 136,337,151 (GRCm39)	E696G	probably damaging	Het
Cxxc1	C	T	18: 74,353,022 (GRCm39)	A444V	probably benign	Het
Dll1	T	C	17: 15,588,951 (GRCm39)	K575E	probably damaging	Het
Dnah11	A	G	12: 118,089,676 (GRCm39)	F1130S	probably damaging	Het
Dnah2	A	G	11: 69,420,295 (GRCm39)	F140L	probably damaging	Het
Dysf	T	C	6: 84,163,450 (GRCm39)	V1625A	probably damaging	Het
Evi5	T	C	5: 107,943,618 (GRCm39)	T592A	probably benign	Het
Fas	T	C	19: 34,294,043 (GRCm39)	S133P	probably damaging	Het
H2-Q4	T	C	17: 35,599,411 (GRCm39)	F165L	probably benign	Het
Ighv9-2	A	G	12: 114,072,838 (GRCm39)	V45A	probably benign	Het
Inpp1	T	G	1: 52,833,706 (GRCm39)	D130A	probably benign	Het
Lin54	C	T	5: 100,628,063 (GRCm39)	V47I	probably benign	Het
Nav3	TGAAGAAGAAGAAGA	TGAAGAAGAAGA	10: 109,550,152 (GRCm39)		probably benign	Het
Nexn	T	C	3: 151,943,590 (GRCm39)	T438A	probably benign	Het
Or4c112	A	T	2: 88,853,598 (GRCm39)	F250I	probably damaging	Het
Or8g4	T	G	9: 39,661,784 (GRCm39)	I34S	probably damaging	Het
Pilrb1	T	A	5: 137,853,315 (GRCm39)	M163L	probably benign	Het
Pkhd1	A	T	1: 20,420,635 (GRCm39)		probably null	Het
Ppard	G	A	17: 28,517,822 (GRCm39)	V297I	probably benign	Het
Rabgap1	T	C	2: 37,365,369 (GRCm39)	V214A	probably benign	Het
Serpinc1	T	C	1: 160,817,191 (GRCm39)	F95S	probably damaging	Het
Slc5a8	T	C	10: 88,742,209 (GRCm39)	Y302H	probably damaging	Het
Slco4a1	G	A	2: 180,106,252 (GRCm39)	A145T	possibly damaging	Het
Spata31g1	T	A	4: 42,971,706 (GRCm39)	F346L	probably benign	Het
Sptlc2	A	T	12: 87,382,829 (GRCm39)	M425K	possibly damaging	Het
Tent5c	A	G	3: 100,380,024 (GRCm39)	L244P	probably damaging	Het
Trp53bp1	A	G	2: 121,074,464 (GRCm39)	S429P	probably benign	Het
Unc13a	T	A	8: 72,105,208 (GRCm39)	T723S	probably damaging	Het
Ush2a	A	T	1: 188,553,914 (GRCm39)	I3468F	possibly damaging	Het
Utp20	A	T	10: 88,586,532 (GRCm39)	D2547E	probably benign	Het
Wnk4	A	G	11: 101,159,574 (GRCm39)	D593G	possibly damaging	Het
Zfyve26	A	G	12: 79,315,756 (GRCm39)	L1240P	probably damaging	Het

Other mutations in Gpr139

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Gpr139	APN	7	118,783,510 (GRCm39)	missense	probably benign	0.10
IGL02103:Gpr139	APN	7	118,744,355 (GRCm39)	missense	possibly damaging	0.88
IGL02714:Gpr139	APN	7	118,744,342 (GRCm39)	missense	possibly damaging	0.90
IGL02893:Gpr139	APN	7	118,744,366 (GRCm39)	missense	probably damaging	1.00
R0082:Gpr139	UTSW	7	118,744,268 (GRCm39)	missense	probably benign	0.11
R0542:Gpr139	UTSW	7	118,744,306 (GRCm39)	missense	probably benign
R1912:Gpr139	UTSW	7	118,744,102 (GRCm39)	missense	possibly damaging	0.62
R2148:Gpr139	UTSW	7	118,744,192 (GRCm39)	missense	probably benign	0.08
R4568:Gpr139	UTSW	7	118,744,028 (GRCm39)	missense	probably damaging	0.97
R4633:Gpr139	UTSW	7	118,743,628 (GRCm39)	missense	probably damaging	0.99
R5039:Gpr139	UTSW	7	118,744,165 (GRCm39)	missense	probably benign	0.45
R5186:Gpr139	UTSW	7	118,744,063 (GRCm39)	missense	probably benign	0.00
R6518:Gpr139	UTSW	7	118,743,734 (GRCm39)	missense	probably damaging	1.00
R6861:Gpr139	UTSW	7	118,743,875 (GRCm39)	missense	probably benign	0.04
R7194:Gpr139	UTSW	7	118,743,896 (GRCm39)	missense	possibly damaging	0.66
R7213:Gpr139	UTSW	7	118,744,322 (GRCm39)	missense	probably benign
R7311:Gpr139	UTSW	7	118,744,089 (GRCm39)	missense	probably benign	0.06
R7390:Gpr139	UTSW	7	118,743,835 (GRCm39)	missense	probably benign	0.00
R7705:Gpr139	UTSW	7	118,743,866 (GRCm39)	missense	probably benign	0.06
R8101:Gpr139	UTSW	7	118,783,510 (GRCm39)	missense	probably benign	0.10
R8970:Gpr139	UTSW	7	118,744,034 (GRCm39)	missense	probably damaging	1.00
R9395:Gpr139	UTSW	7	118,743,811 (GRCm39)	missense	probably benign	0.04
RF008:Gpr139	UTSW	7	118,744,090 (GRCm39)	missense	probably benign	0.01
Z1177:Gpr139	UTSW	7	118,743,736 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TTGAGTGGGTGACAGACAGC -3'
(R):5'- AAACGCCCATGTGGTTCTCTG -3'

Sequencing Primer
(F):5'- CGATATACCTGTCAACCGTTAAGGG -3'
(R):5'- GACATCTATTGGTGTGCCCC -3'

Posted On

2016-07-06