Mutagenetix > Incidental Mutation

Incidental Mutation 'R7705:Gpr139'

594234

Institutional Source

Beutler Lab

Gene Symbol

Gpr139

Ensembl Gene

ENSMUSG00000066197

Gene Name

G protein-coupled receptor 139

Synonyms

LOC209776, GPRg1

MMRRC Submission

045766-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7705 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118739970-118783761 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118743866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 240 (I240V)

Ref Sequence

ENSEMBL: ENSMUSP00000081700 (fasta)

Gene Model

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

AlphaFold

Q80UC8

Predicted Effect

probably benign
Transcript: ENSMUST00000084650
AA Change: I240V

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000081700
Gene: ENSMUSG00000066197
AA Change: I240V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	G	A	3: 59,784,168 (GRCm39)	A214T	probably benign	Het
Abcb9	G	T	5: 124,220,018 (GRCm39)	Y342*	probably null	Het
Acad9	C	T	3: 36,142,675 (GRCm39)	T470M	probably benign	Het
Ankmy2	A	G	12: 36,245,107 (GRCm39)	E379G	probably benign	Het
Cand1	A	G	10: 119,048,343 (GRCm39)		probably null	Het
Ccdc171	A	G	4: 83,476,193 (GRCm39)	T203A	possibly damaging	Het
Cpeb4	A	G	11: 31,822,327 (GRCm39)	T14A	probably damaging	Het
Cplane1	T	G	15: 8,211,736 (GRCm39)	F359V	probably damaging	Het
Crtap	A	T	9: 114,210,747 (GRCm39)	C276S	probably damaging	Het
Csf2rb2	T	C	15: 78,168,774 (GRCm39)	I794V	probably benign	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cux2	T	A	5: 122,007,736 (GRCm39)	M642L	probably benign	Het
Dpep1	T	C	8: 123,927,460 (GRCm39)	V338A	possibly damaging	Het
Dytn	A	G	1: 63,717,948 (GRCm39)	L29P	probably damaging	Het
E2f3	G	A	13: 30,169,306 (GRCm39)	R116C	probably benign	Het
Edc3	T	C	9: 57,647,197 (GRCm39)	V282A	probably benign	Het
Epha1	A	G	6: 42,339,602 (GRCm39)	V630A	probably damaging	Het
Erc1	A	G	6: 119,801,564 (GRCm39)	I151T	probably benign	Het
Fam83h	C	T	15: 75,875,699 (GRCm39)	R546H	probably damaging	Het
Fbxl14	A	T	6: 119,457,742 (GRCm39)	K308*	probably null	Het
Fbxw24	A	T	9: 109,437,516 (GRCm39)		probably null	Het
Gldn	T	A	9: 54,245,976 (GRCm39)	M509K	probably benign	Het
Herc1	G	T	9: 66,347,116 (GRCm39)	M1990I	possibly damaging	Het
Hmgcr	A	G	13: 96,793,231 (GRCm39)	I467T	probably benign	Het
Isl2	T	C	9: 55,449,685 (GRCm39)	F85L	probably benign	Het
Lat	T	C	7: 125,963,612 (GRCm39)	N197D	probably damaging	Het
Marchf1	T	C	8: 66,921,169 (GRCm39)	V282A	probably benign	Het
Meiosin	T	A	7: 18,835,044 (GRCm39)	D393V	unknown	Het
Mrpl9	A	G	3: 94,351,075 (GRCm39)	H85R	possibly damaging	Het
Mterf2	G	T	10: 84,956,381 (GRCm39)	A81E	probably damaging	Het
Mtr	A	G	13: 12,264,782 (GRCm39)	C107R	probably benign	Het
Nlrp4c	T	A	7: 6,075,635 (GRCm39)	V642E	probably damaging	Het
Or5b12b	A	G	19: 12,861,871 (GRCm39)	I209V	probably benign	Het
Or6c212	T	A	10: 129,559,018 (GRCm39)	I132F	probably benign	Het
Pdik1l	A	G	4: 134,006,804 (GRCm39)	S112P	unknown	Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Rest	T	A	5: 77,416,119 (GRCm39)	L111Q	probably damaging	Het
Slc28a2b	A	C	2: 122,352,110 (GRCm39)		probably null	Het
Spg7	A	C	8: 123,800,617 (GRCm39)	D169A	possibly damaging	Het
Syt3	T	C	7: 44,042,083 (GRCm39)	V314A	possibly damaging	Het
Tbc1d20	G	C	2: 152,150,004 (GRCm39)	G144R	probably damaging	Het
Tlk1	A	T	2: 70,617,016 (GRCm39)		probably null	Het
Tmem147	T	G	7: 30,427,716 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,755,170 (GRCm39)	D401E	probably damaging	Het
Ulbp1	A	G	10: 7,395,685 (GRCm39)	S291P	unknown	Het
Usp19	A	G	9: 108,379,112 (GRCm39)	D1286G	possibly damaging	Het
Usp49	T	C	17: 47,989,873 (GRCm39)	F553L	probably damaging	Het
Zfp352	A	G	4: 90,113,512 (GRCm39)	T551A	possibly 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
R5252:Gpr139	UTSW	7	118,744,427 (GRCm39)	missense	probably benign	0.13
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
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'- CTGTACAGGCTGCTTCTGAC -3'
(R):5'- GCATCATGTCCTTGTCTGGATC -3'

Sequencing Primer
(F):5'- GCTGCTTCTGACACTTGAACAAGG -3'
(R):5'- GGATCCACTGTTTCACCGTG -3'

Posted On

2019-11-12