Mutagenetix > Incidental Mutations

Incidental Mutation 'R1263:Gpr107'

151642

Institutional Source

Beutler Lab

Gene Symbol

Gpr107

Ensembl Gene

ENSMUSG00000000194

Gene Name

G protein-coupled receptor 107

Synonyms

MMRRC Submission

039330-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31152316-31218775 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 31178255 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 243 (I243S)

Ref Sequence

ENSEMBL: ENSMUSP00000056739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056433]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056433
AA Change: I243S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056739
Gene: ENSMUSG00000000194
AA Change: I243S

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Lung_7-TM_R	213	504	3e-100	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172422

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this gene causes complete embryonic lethality during organogenesis, associated with reduced expression of genes implicated in the cubilin-megalin multi-ligand endocytic receptor complex. Homozygous null MEFs show defects in receptor-mediated endocytosis and recycling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,278	Y207*	probably null	Het
Abca8b	A	C	11: 109,941,607	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 103,103,851		probably null	Het
Atp13a4	T	A	16: 29,471,953	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,462,522	F132C	probably damaging	Het
Btaf1	A	T	19: 36,956,524	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,747,353	Y590*	probably null	Het
Chil1	G	A	1: 134,189,242	E315K	probably benign	Het
Col6a6	T	A	9: 105,709,489	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,104,711	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,574,711	T396A	probably benign	Het
Dnah6	A	T	6: 73,144,965	I1373N	probably damaging	Het
Dopey2	C	A	16: 93,777,386	H1598N	probably benign	Het
Erich4	T	A	7: 25,615,134	K118M	probably damaging	Het
Gkap1	A	T	13: 58,255,773	V179E	probably benign	Het
Hs3st6	A	G	17: 24,758,530	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,479,378	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,676,966	H266Q	probably benign	Het
Krt71	C	T	15: 101,735,466	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,682,968	T423A	probably benign	Het
Mical3	T	C	6: 120,952,469	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 71,097,122	I1174T	probably benign	Het
Npas2	C	A	1: 39,334,768	Q450K	possibly damaging	Het
Nrp1	T	A	8: 128,468,389	I442N	probably damaging	Het
Olfr1385	A	T	11: 49,495,021	M163L	probably benign	Het
Olfr338	T	A	2: 36,376,994	S73T	probably damaging	Het
Palld	TGCGTAGCG	TGCG	8: 61,513,457		probably null	Het
Pih1d3	A	T	1: 31,223,215	I93F	probably damaging	Het
Pold3	T	A	7: 100,119,683	Q36L	possibly damaging	Het
Polg	T	C	7: 79,459,786	T428A	probably benign	Het
Rfx7	T	A	9: 72,577,047	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,112,149	M1R	probably null	Het
Scn10a	T	A	9: 119,617,733	T1410S	probably damaging	Het
Serpinb13	T	A	1: 107,000,736	V362E	probably damaging	Het
Setdb1	T	C	3: 95,327,611	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,320,638	K91R	probably benign	Het
Shprh	A	G	10: 11,159,530	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Styxl1	G	T	5: 135,753,883	S117R	probably damaging	Het
Synj2	T	C	17: 6,019,359	F150L	probably damaging	Het
Tep1	C	A	14: 50,845,513	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,630,655	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,666,870	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,622,562	I115F	possibly damaging	Het
Trim38	A	G	13: 23,791,134	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,207,321	V44D	probably benign	Het
Vars2	A	G	17: 35,661,609	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,208,322	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,050,708	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,581,606	Y762C	probably benign	Het
Vps13d	T	A	4: 145,170,348	Q334L	probably benign	Het
Zfp277	A	T	12: 40,364,165	I227N	probably damaging	Het

Other mutations in Gpr107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Gpr107	APN	2	31171994	missense	probably benign	0.00
IGL00828:Gpr107	APN	2	31177783	critical splice acceptor site	probably null
IGL01138:Gpr107	APN	2	31172016	missense	probably benign	0.06
IGL01589:Gpr107	APN	2	31167151	splice site	probably benign
IGL02164:Gpr107	APN	2	31178286	nonsense	probably null
IGL02176:Gpr107	APN	2	31168846	missense	probably benign	0.01
IGL02190:Gpr107	APN	2	31178320	missense	probably damaging	1.00
IGL02234:Gpr107	APN	2	31177833	missense	probably damaging	1.00
IGL02838:Gpr107	APN	2	31214317	missense	probably benign	0.01
PIT4142001:Gpr107	UTSW	2	31167071	missense	probably benign	0.18
R0613:Gpr107	UTSW	2	31178285	missense	probably damaging	1.00
R0630:Gpr107	UTSW	2	31214297	missense	possibly damaging	0.89
R0735:Gpr107	UTSW	2	31171994	missense	probably benign	0.00
R1572:Gpr107	UTSW	2	31167025	missense	probably damaging	1.00
R1675:Gpr107	UTSW	2	31167051	missense	possibly damaging	0.77
R2421:Gpr107	UTSW	2	31185529	missense	probably damaging	1.00
R4569:Gpr107	UTSW	2	31207665	splice site	probably benign
R4647:Gpr107	UTSW	2	31210501	missense	probably damaging	1.00
R4656:Gpr107	UTSW	2	31214249	missense	probably damaging	1.00
R4844:Gpr107	UTSW	2	31188674	splice site	probably null
R5385:Gpr107	UTSW	2	31214251	missense	probably benign	0.01
R5416:Gpr107	UTSW	2	31185548	missense	probably damaging	1.00
R5562:Gpr107	UTSW	2	31152363	missense	probably damaging	1.00
R5564:Gpr107	UTSW	2	31152363	missense	probably damaging	1.00
R5652:Gpr107	UTSW	2	31185589	missense	probably benign	0.16
R6075:Gpr107	UTSW	2	31152372	missense	probably benign	0.05
R7186:Gpr107	UTSW	2	31152359	start codon destroyed	possibly damaging	0.59
R7511:Gpr107	UTSW	2	31178346	missense	probably benign	0.03
R7587:Gpr107	UTSW	2	31168826	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAGTACCTCACGGGACATCGATAG -3'
(R):5'- TGAAATCTTGCAGCTCTCCACACAC -3'

Sequencing Primer
(F):5'- CATCCTGAGGGTATGTGAACC -3'
(R):5'- ACTCAAGCACTTACCTTCTCTTACG -3'

Posted On

2014-01-29