Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03297:Gpr34'

416111

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpr34

Ensembl Gene

ENSMUSG00000040229

Gene Name

G protein-coupled receptor 34

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03297

Quality Score

Status

Chromosome

Chromosomal Location

13498328-13507097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13505681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 70 (Y70C)

Ref Sequence

ENSEMBL: ENSMUSP00000094236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033321] [ENSMUST00000041708] [ENSMUST00000096492] [ENSMUST00000115436] [ENSMUST00000115438] [ENSMUST00000124710] [ENSMUST00000156096]

AlphaFold

Q9R1K6

Predicted Effect

probably benign
Transcript: ENSMUST00000033321

SMART Domains

Protein: ENSMUSP00000033321
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
S_TKc	12	276	1.22e-100	SMART
L27	340	395	8.68e-14	SMART
L27	399	452	1.67e-15	SMART
PDZ	493	565	4.01e-14	SMART
SH3	597	663	1.75e-12	SMART
low complexity region	685	697	N/A	INTRINSIC
GuKc	720	896	7.41e-78	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000041708
AA Change: Y70C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042715
Gene: ENSMUSG00000040229
AA Change: Y70C

Domain	Start	End	E-Value	Type
Pfam:7tm_1	64	320	4.1e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000096492
AA Change: Y70C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094236
Gene: ENSMUSG00000040229
AA Change: Y70C

Domain	Start	End	E-Value	Type
Pfam:7tm_1	64	320	2.9e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115436

SMART Domains

Protein: ENSMUSP00000111096
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
S_TKc	12	276	1.22e-100	SMART
L27	340	395	8.68e-14	SMART
L27	399	452	1.67e-15	SMART
PDZ	493	565	4.01e-14	SMART
SH3	586	652	1.75e-12	SMART
low complexity region	674	686	N/A	INTRINSIC
GuKc	709	885	7.41e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115438

SMART Domains

Protein: ENSMUSP00000111098
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
S_TKc	12	276	1.22e-100	SMART
L27	340	395	8.68e-14	SMART
L27	399	452	1.67e-15	SMART
PDZ	493	565	4.01e-14	SMART
SH3	609	675	1.75e-12	SMART
low complexity region	697	709	N/A	INTRINSIC
GuKc	732	908	7.41e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124710

SMART Domains

Protein: ENSMUSP00000119584
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
Pfam:Pkinase	12	155	9.7e-33	PFAM
Pfam:Pkinase_Tyr	12	155	6.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128012

SMART Domains

Protein: ENSMUSP00000114187
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	137	1.1e-32	PFAM
Pfam:Pkinase_Tyr	2	134	2.3e-10	PFAM
L27	207	249	1.81e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152358

Predicted Effect

probably benign
Transcript: ENSMUST00000156096

SMART Domains

Protein: ENSMUSP00000120299
Gene: ENSMUSG00000031012

Domain	Start	End	E-Value	Type
S_TKc	1	250	2.71e-84	SMART
L27	314	369	8.68e-14	SMART
L27	373	426	1.67e-15	SMART
PDZ	467	539	4.01e-14	SMART
SH3	560	626	1.75e-12	SMART
low complexity region	648	660	N/A	INTRINSIC
GuKc	683	859	7.41e-78	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G protein-coupled receptors (GPCRs), such as GPR34, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM, Apr 2006]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased monocyte migration and susceptibility to type IV hypersensitivity and fungal infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,341,663 (GRCm39)	G1624S	probably damaging	Het
Adhfe1	A	G	1: 9,620,173 (GRCm39)		probably benign	Het
Ano6	C	A	15: 95,860,158 (GRCm39)	T760N	probably damaging	Het
Camsap2	T	C	1: 136,225,539 (GRCm39)	M196V	probably benign	Het
Cd209d	T	C	8: 3,928,476 (GRCm39)	D3G	possibly damaging	Het
Cdh5	T	A	8: 104,854,831 (GRCm39)	F253Y	probably damaging	Het
Cnot10	T	C	9: 114,427,784 (GRCm39)	E610G	possibly damaging	Het
Cnot4	T	C	6: 35,001,158 (GRCm39)	N579S	probably benign	Het
Csmd1	G	T	8: 16,059,432 (GRCm39)	S2101*	probably null	Het
Dgkq	C	A	5: 108,798,140 (GRCm39)	R706L	probably damaging	Het
Gm5422	T	C	10: 31,125,727 (GRCm39)		noncoding transcript	Het
Herc6	T	A	6: 57,639,374 (GRCm39)	L914Q	probably benign	Het
Ifitm6	T	C	7: 140,595,948 (GRCm39)	Y115C	probably damaging	Het
Iqcg	G	T	16: 32,856,002 (GRCm39)		probably benign	Het
Myo15a	A	G	11: 60,369,967 (GRCm39)	D909G	probably damaging	Het
Nefl	A	G	14: 68,321,673 (GRCm39)	T88A	possibly damaging	Het
Nfatc2	T	A	2: 168,378,138 (GRCm39)	N509I	probably damaging	Het
Nkd1	T	C	8: 89,300,902 (GRCm39)		probably benign	Het
Npas2	T	C	1: 39,331,771 (GRCm39)	V62A	possibly damaging	Het
Oas2	T	G	5: 120,873,150 (GRCm39)	D635A	possibly damaging	Het
Obscn	C	T	11: 58,951,712 (GRCm39)	V4014M	possibly damaging	Het
Ogfr	C	A	2: 180,236,200 (GRCm39)	H262N	possibly damaging	Het
Or10aa1	T	G	1: 173,869,683 (GRCm39)	S56A	probably benign	Het
Or8b49	A	T	9: 38,505,821 (GRCm39)	L101F	probably benign	Het
Pa2g4	T	C	10: 128,399,105 (GRCm39)	D104G	probably damaging	Het
Parp11	T	C	6: 127,467,045 (GRCm39)		probably benign	Het
Ppp2r5a	C	T	1: 191,086,959 (GRCm39)	V360I	probably benign	Het
Ptpn13	A	T	5: 103,688,943 (GRCm39)	K912I	probably benign	Het
Sec16a	A	G	2: 26,329,202 (GRCm39)	S938P	probably benign	Het
Slc15a1	A	C	14: 121,724,096 (GRCm39)	I170S	probably damaging	Het
Smchd1	T	C	17: 71,656,695 (GRCm39)	N1924S	probably benign	Het
Sprr4	G	A	3: 92,407,731 (GRCm39)	P24S	unknown	Het
Trim30b	A	T	7: 104,015,102 (GRCm39)	N95K	probably benign	Het
Tyw1	C	T	5: 130,369,575 (GRCm39)	A687V	probably damaging	Het
Vmn2r14	T	A	5: 109,363,973 (GRCm39)	I648F	probably damaging	Het
Vmn2r78	T	A	7: 86,569,969 (GRCm39)	C162*	probably null	Het

Other mutations in Gpr34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03294:Gpr34	APN	X	13,505,788 (GRCm39)	missense	probably damaging	1.00
X0062:Gpr34	UTSW	X	13,505,713 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02