Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03294:Gpr34'

415996

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 #

IGL03294

Quality Score

Status

Chromosome

Chromosomal Location

13498328-13507097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13505788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 106 (Y106H)

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: Y106H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042715
Gene: ENSMUSG00000040229
AA Change: Y106H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000096492
AA Change: Y106H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094236
Gene: ENSMUSG00000040229
AA Change: Y106H

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030498E09Rik	A	T	X: 38,047,315 (GRCm39)	M119L	probably benign	Het
Akap10	A	T	11: 61,768,179 (GRCm39)	V646D	probably damaging	Het
Aldh3a1	A	G	11: 61,105,548 (GRCm39)	Y218C	probably damaging	Het
Arfgef3	T	A	10: 18,540,660 (GRCm39)	L174F	probably damaging	Het
Arhgef6	T	C	X: 56,382,338 (GRCm39)	K99E	possibly damaging	Het
Atp9a	T	C	2: 168,531,225 (GRCm39)	K163E	probably benign	Het
Birc6	C	T	17: 74,956,881 (GRCm39)	A3605V	probably benign	Het
C8b	G	A	4: 104,637,888 (GRCm39)	R120Q	probably benign	Het
Ccr1l1	A	C	9: 123,778,444 (GRCm39)	M1R	probably null	Het
Clca3a2	A	G	3: 144,803,530 (GRCm39)	S105P	probably damaging	Het
Cntnap1	A	G	11: 101,072,508 (GRCm39)	T502A	possibly damaging	Het
Ddx10	C	T	9: 53,028,452 (GRCm39)		probably null	Het
Dnah5	G	A	15: 28,233,441 (GRCm39)		probably null	Het
Dock9	A	T	14: 121,879,035 (GRCm39)		probably benign	Het
Gli2	A	G	1: 118,765,166 (GRCm39)	V995A	probably benign	Het
Kmt2a	A	T	9: 44,731,862 (GRCm39)		probably benign	Het
Lamc1	C	A	1: 153,138,392 (GRCm39)	R154L	probably damaging	Het
Mat1a	T	A	14: 40,827,561 (GRCm39)	V5E	probably benign	Het
Meioc	A	T	11: 102,571,495 (GRCm39)	E943V	probably damaging	Het
Mtcl1	G	A	17: 66,645,014 (GRCm39)	P1478S	probably damaging	Het
Nav2	C	T	7: 49,141,205 (GRCm39)	R917*	probably null	Het
Or4f47	T	C	2: 111,972,518 (GRCm39)	I76T	probably benign	Het
Or7g32	T	C	9: 19,389,285 (GRCm39)	N87S	possibly damaging	Het
Pcsk9	T	A	4: 106,303,967 (GRCm39)	I506L	probably benign	Het
Phf14	T	A	6: 11,953,366 (GRCm39)	D368E	probably damaging	Het
Phka1	C	A	X: 101,580,819 (GRCm39)	S964I	probably damaging	Het
Pikfyve	G	A	1: 65,286,226 (GRCm39)	R1155Q	probably damaging	Het
Plin2	C	T	4: 86,580,315 (GRCm39)	V60M	probably damaging	Het
Ptpn9	A	G	9: 56,934,671 (GRCm39)	Q145R	possibly damaging	Het
Sap30	A	G	8: 57,940,335 (GRCm39)	I89T	probably damaging	Het
Sec61a2	T	C	2: 5,881,276 (GRCm39)		probably null	Het
Slc34a2	A	C	5: 53,221,340 (GRCm39)	D262A	probably benign	Het
Slc6a3	G	A	13: 73,705,300 (GRCm39)		probably null	Het
Slfn4	A	T	11: 83,077,400 (GRCm39)	T63S	probably benign	Het
Tbx10	A	T	19: 4,048,571 (GRCm39)		probably benign	Het
Tie1	A	T	4: 118,337,420 (GRCm39)	N501K	probably damaging	Het
Tmprss11f	A	T	5: 86,685,966 (GRCm39)	Y134N	probably damaging	Het
Uevld	A	T	7: 46,580,778 (GRCm39)	D361E	possibly damaging	Het
Ugt1a5	A	C	1: 88,094,537 (GRCm39)	D255A	probably damaging	Het
Vmn2r11	A	G	5: 109,201,935 (GRCm39)	F190L	probably benign	Het
Wfs1	G	A	5: 37,132,941 (GRCm39)	R113C	probably damaging	Het
Yipf5	T	G	18: 40,339,449 (GRCm39)	M206L	probably benign	Het
Zbtb10	A	G	3: 9,346,047 (GRCm39)	D847G	probably benign	Het
Zfp786	T	A	6: 47,798,258 (GRCm39)	K227*	probably null	Het

Other mutations in Gpr34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03297:Gpr34	APN	X	13,505,681 (GRCm39)	missense	probably damaging	1.00
X0062:Gpr34	UTSW	X	13,505,713 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02