Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01992:Galr1'

183573

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Galr1

Ensembl Gene

ENSMUSG00000024553

Gene Name

galanin receptor 1

Synonyms

Galnr1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01992

Quality Score

Status

Chromosome

Chromosomal Location

82410621-82424902 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82411942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 308 (N308S)

Ref Sequence

ENSEMBL: ENSMUSP00000066381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065224]

AlphaFold

P56479

Predicted Effect

probably damaging
Transcript: ENSMUST00000065224
AA Change: N308S

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

SMART Domains

Protein: ENSMUSP00000066381
Gene: ENSMUSG00000024553
AA Change: N308S

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srw	38	320	3e-8	PFAM
Pfam:7TM_GPCR_Srsx	44	317	1.5e-11	PFAM
Pfam:7tm_1	50	302	3.6e-56	PFAM
Pfam:7TM_GPCR_Srv	53	319	1.2e-7	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano3	A	G	2: 110,488,564 (GRCm39)	M956T	probably damaging	Het
Ap2b1	T	G	11: 83,226,356 (GRCm39)	V289G	probably damaging	Het
Cacnb4	G	T	2: 52,355,682 (GRCm39)	H208Q	probably damaging	Het
Calhm6	A	T	10: 34,003,533 (GRCm39)	C125S	probably damaging	Het
Cd5l	G	A	3: 87,275,118 (GRCm39)	R219Q	probably benign	Het
Dzip1l	G	T	9: 99,545,739 (GRCm39)	G663W	probably damaging	Het
Ecel1	G	A	1: 87,077,577 (GRCm39)		probably benign	Het
Eno1	A	G	4: 150,323,993 (GRCm39)	T19A	probably damaging	Het
Fndc3a	G	A	14: 72,811,996 (GRCm39)	T315I	probably benign	Het
Get3	G	A	8: 85,745,185 (GRCm39)	A294V	possibly damaging	Het
Maf	A	T	8: 116,432,702 (GRCm39)	S301T	probably damaging	Het
Map3k5	C	T	10: 19,904,879 (GRCm39)	R394*	probably null	Het
Mroh8	C	T	2: 157,055,616 (GRCm39)	G994D	probably damaging	Het
Myo10	T	C	15: 25,799,634 (GRCm39)	V653A	possibly damaging	Het
Nucks1	A	G	1: 131,858,828 (GRCm39)	K196E	unknown	Het
Nup42	T	C	5: 24,386,101 (GRCm39)	V211A	probably benign	Het
Or4n4	C	A	14: 50,518,798 (GRCm39)	R304L	probably benign	Het
Or7e178	A	T	9: 20,226,015 (GRCm39)	I59N	probably damaging	Het
Or7g32	A	T	9: 19,408,070 (GRCm39)	I9F	probably benign	Het
Piwil1	C	T	5: 128,824,396 (GRCm39)	T493I	probably null	Het
Plcd1	T	C	9: 118,905,053 (GRCm39)	H216R	probably benign	Het
Pmp2	A	T	3: 10,247,541 (GRCm39)	Y49*	probably null	Het
Rnf38	A	G	4: 44,138,806 (GRCm39)	V229A	probably damaging	Het
Saxo2	T	C	7: 82,284,108 (GRCm39)	D250G	probably damaging	Het
Scn8a	T	G	15: 100,866,938 (GRCm39)	V98G	probably damaging	Het
Scnn1a	T	A	6: 125,315,900 (GRCm39)		probably null	Het
Sepsecs	C	T	5: 52,801,402 (GRCm39)	R420Q	probably benign	Het
Slit2	T	C	5: 48,395,759 (GRCm39)	S725P	probably benign	Het
Stk16	A	G	1: 75,189,835 (GRCm39)	Q207R	probably benign	Het
Tapt1	C	T	5: 44,336,332 (GRCm39)	V446M	probably damaging	Het
Tent5c	A	T	3: 100,379,946 (GRCm39)	M270K	probably damaging	Het
Tex56	C	T	13: 35,108,516 (GRCm39)		probably null	Het
Tnni3k	A	C	3: 154,667,663 (GRCm39)	V250G	probably damaging	Het
Ttll8	C	T	15: 88,799,848 (GRCm39)	G531E	possibly damaging	Het
U2surp	T	A	9: 95,346,472 (GRCm39)	E862D	possibly damaging	Het
U2surp	A	G	9: 95,364,234 (GRCm39)	F561L	probably damaging	Het
Unc5d	A	G	8: 29,142,819 (GRCm39)	Y878H	probably damaging	Het
Ust	A	G	10: 8,173,842 (GRCm39)	M221T	probably benign	Het
Wasf3	T	C	5: 146,392,401 (GRCm39)	F157S	probably damaging	Het
Wdr64	G	A	1: 175,533,637 (GRCm39)	C91Y	probably damaging	Het
Zan	T	C	5: 137,422,368 (GRCm39)	Y2750C	unknown	Het

Other mutations in Galr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02047:Galr1	APN	18	82,424,118 (GRCm39)	missense	probably damaging	1.00
IGL02985:Galr1	APN	18	82,411,855 (GRCm39)	missense	probably benign	0.00
R0147:Galr1	UTSW	18	82,423,695 (GRCm39)	missense	probably benign	0.01
R0148:Galr1	UTSW	18	82,423,695 (GRCm39)	missense	probably benign	0.01
R0417:Galr1	UTSW	18	82,423,665 (GRCm39)	missense	probably damaging	1.00
R1080:Galr1	UTSW	18	82,423,632 (GRCm39)	missense	probably damaging	1.00
R1481:Galr1	UTSW	18	82,423,866 (GRCm39)	missense	possibly damaging	0.82
R2422:Galr1	UTSW	18	82,424,048 (GRCm39)	missense	probably damaging	1.00
R4896:Galr1	UTSW	18	82,412,065 (GRCm39)	missense	probably damaging	1.00
R5219:Galr1	UTSW	18	82,412,110 (GRCm39)	missense	probably damaging	1.00
R5272:Galr1	UTSW	18	82,423,761 (GRCm39)	missense	probably benign	0.06
R5506:Galr1	UTSW	18	82,423,989 (GRCm39)	missense	possibly damaging	0.95
R5870:Galr1	UTSW	18	82,424,197 (GRCm39)	missense	probably benign	0.00
R5900:Galr1	UTSW	18	82,411,982 (GRCm39)	missense	probably damaging	1.00
R7229:Galr1	UTSW	18	82,423,789 (GRCm39)	missense	probably damaging	1.00
R7408:Galr1	UTSW	18	82,411,990 (GRCm39)	missense	probably damaging	1.00
R7897:Galr1	UTSW	18	82,424,256 (GRCm39)	missense	probably benign	0.06
R8551:Galr1	UTSW	18	82,424,191 (GRCm39)	missense	probably benign	0.31
R8952:Galr1	UTSW	18	82,411,909 (GRCm39)	missense	probably damaging	0.99
R9632:Galr1	UTSW	18	82,424,103 (GRCm39)	missense	probably damaging	0.99
R9710:Galr1	UTSW	18	82,424,103 (GRCm39)	missense	probably damaging	0.99
R9801:Galr1	UTSW	18	82,423,912 (GRCm39)	missense	possibly damaging	0.77
Z1177:Galr1	UTSW	18	82,423,897 (GRCm39)	missense	probably benign

Posted On

2014-05-07