Mutagenetix > Incidental Mutations

Incidental Mutation 'R4984:Gpr89'

385781

Institutional Source

Beutler Lab

Gene Symbol

Gpr89

Ensembl Gene

ENSMUSG00000028096

Gene Name

G protein-coupled receptor 89

Synonyms

4933412D19Rik, SH120

MMRRC Submission

042578-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.363) question?

Stock #

R4984 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

96868281-96905346 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96905196 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 10 (M10L)

Ref Sequence

ENSEMBL: ENSMUSP00000116016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029738] [ENSMUST00000154750] [ENSMUST00000199597]

AlphaFold

Q8BS95

Predicted Effect

probably benign
Transcript: ENSMUST00000029738
AA Change: M10L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029738
Gene: ENSMUSG00000028096
AA Change: M10L

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
transmembrane domain	110	127	N/A	INTRINSIC
Pfam:GPHR_N	140	207	1.1e-31	PFAM
Pfam:ABA_GPCR	276	446	4.9e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154750
AA Change: M10L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000116016
Gene: ENSMUSG00000028096
AA Change: M10L

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
transmembrane domain	38	60	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199597

SMART Domains

Protein: ENSMUSP00000143542
Gene: ENSMUSG00000057123

Domain	Start	End	E-Value	Type
CNX	43	76	3.47e-19	SMART
Connexin_CCC	163	229	2.45e-37	SMART
Pfam:Connexin40_C	257	358	2.4e-33	PFAM

Meta Mutation Damage Score

0.0911

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.4%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra2a	T	C	19: 54,046,639	I142T	probably damaging	Het
B020004J07Rik	G	C	4: 101,835,599	N401K	possibly damaging	Het
Cd109	T	C	9: 78,634,677		probably null	Het
Cdc42bpg	T	A	19: 6,316,223	I812N	possibly damaging	Het
Cftr	A	G	6: 18,235,199	E479G	possibly damaging	Het
Cpb1	GTTT	GTT	3: 20,270,352		probably null	Het
Crocc	T	C	4: 141,034,452	E873G	probably damaging	Het
Dnah3	C	T	7: 119,928,779	V3827I	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
E230001N04Rik	T	C	17: 28,523,806		noncoding transcript	Het
Kbtbd7	T	C	14: 79,427,162	Y145H	probably damaging	Het
Kcnh8	T	A	17: 52,877,967	Y426N	probably damaging	Het
Mipep	A	G	14: 60,788,182	D129G	possibly damaging	Het
Muc15	C	T	2: 110,731,573	P118L	probably damaging	Het
Mug1	T	C	6: 121,838,617		probably benign	Het
Nubp1	T	A	16: 10,421,244	D208E	probably damaging	Het
Olfr1192-ps1	A	G	2: 88,412,577	L27P	probably damaging	Het
Olfr1256	A	T	2: 89,835,813	V44D	probably damaging	Het
Olfr1286	A	T	2: 111,420,847	Y35N	probably damaging	Het
Olfr229	A	G	9: 39,910,610	D269G	probably benign	Het
Olfr651	T	G	7: 104,553,021	I34S	probably benign	Het
Pdcd5	A	C	7: 35,642,685	V166G	probably damaging	Het
Pde4d	T	C	13: 109,740,464	L173P	probably damaging	Het
Phldb2	T	C	16: 45,825,633	Y195C	probably damaging	Het
Pifo	T	A	3: 106,001,494		probably benign	Het
Pou4f1	T	C	14: 104,466,183	E271G	unknown	Het
Ppl	T	C	16: 5,087,641	I1597V	probably benign	Het
Sorl1	C	A	9: 41,991,342	D1640Y	probably damaging	Het
Taf4b	T	C	18: 14,835,816	L670P	probably damaging	Het
Tox3	TCTGCTGCTGCTGCTGCTG	TCTGCTGCTGCTGCTG	8: 90,248,642		probably benign	Het
Ttc39b	A	T	4: 83,242,209	I377K	probably benign	Het
Ttll3	A	G	6: 113,412,940	D762G	probably benign	Het
Ubp1	T	A	9: 113,959,392	I279K	probably damaging	Het
Vmn2r93	T	A	17: 18,313,127		probably null	Het
Wdfy3	C	T	5: 101,943,119	D532N	probably benign	Het
Zfp644	A	T	5: 106,636,917	L588Q	possibly damaging	Het

Other mutations in Gpr89

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Gpr89	APN	3	96898523	missense	probably damaging	1.00
IGL00757:Gpr89	APN	3	96871534	missense	probably benign	0.00
IGL01114:Gpr89	APN	3	96893549	missense	probably damaging	0.98
IGL02417:Gpr89	APN	3	96897425	nonsense	probably null
explorer	UTSW	3	96880069	splice site	probably null
R0207:Gpr89	UTSW	3	96871480	missense	probably damaging	0.99
R0650:Gpr89	UTSW	3	96897324	splice site	probably benign
R0704:Gpr89	UTSW	3	96880168	critical splice acceptor site	probably null
R1496:Gpr89	UTSW	3	96905210	missense	probably benign	0.00
R1869:Gpr89	UTSW	3	96875659	missense	probably benign	0.16
R1913:Gpr89	UTSW	3	96875633	missense	possibly damaging	0.91
R2264:Gpr89	UTSW	3	96872515	missense	probably damaging	0.99
R2276:Gpr89	UTSW	3	96897427	missense	probably damaging	1.00
R3822:Gpr89	UTSW	3	96892944	missense	probably benign	0.03
R3922:Gpr89	UTSW	3	96890899	missense	probably damaging	1.00
R5761:Gpr89	UTSW	3	96892880	missense	probably damaging	1.00
R6185:Gpr89	UTSW	3	96890833	missense	probably damaging	0.99
R7063:Gpr89	UTSW	3	96875698	missense	probably damaging	1.00
R7164:Gpr89	UTSW	3	96871398	missense	probably benign	0.04
R7172:Gpr89	UTSW	3	96880069	splice site	probably null
R7215:Gpr89	UTSW	3	96880088	missense	probably damaging	1.00
R7536:Gpr89	UTSW	3	96890893	missense	probably damaging	0.96
R7708:Gpr89	UTSW	3	96880625	missense	possibly damaging	0.81
R7849:Gpr89	UTSW	3	96871490	nonsense	probably null
R8273:Gpr89	UTSW	3	96905189	missense	probably benign
RF019:Gpr89	UTSW	3	96905193	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCTCAGACTTGGACCTCG -3'
(R):5'- TCCAGGCAAACGGAGAATGC -3'

Sequencing Primer
(F):5'- GAGGCAAACGTGTCAGCACC -3'
(R):5'- AGAATGCGGCCGCTGATTG -3'

Posted On

2016-05-10