Mutagenetix > Incidental Mutation

Incidental Mutation 'R8952:Galr1'

681728

Institutional Source

Beutler Lab

Gene Symbol

Galr1

Ensembl Gene

ENSMUSG00000024553

Gene Name

galanin receptor 1

Synonyms

Galnr1

MMRRC Submission

068714-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82410621-82424902 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82411909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 319 (C319Y)

Ref Sequence

ENSEMBL: ENSMUSP00000066381 (fasta)

Gene Model

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

AlphaFold

P56479

Predicted Effect

probably damaging
Transcript: ENSMUST00000065224
AA Change: C319Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066381
Gene: ENSMUSG00000024553
AA Change: C319Y

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (45/45)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	T	A	7: 26,900,025 (GRCm39)	S134T	probably damaging	Het
Adamts12	A	G	15: 11,286,065 (GRCm39)	N758S	probably damaging	Het
Asb3	C	A	11: 31,008,959 (GRCm39)	Q287K	probably damaging	Het
Bach1	T	A	16: 87,512,353 (GRCm39)	N25K	probably damaging	Het
Carmil2	T	A	8: 106,417,398 (GRCm39)	V552E	possibly damaging	Het
Cyth4	A	G	15: 78,486,937 (GRCm39)	I22V	probably benign	Het
Dock3	A	G	9: 106,850,958 (GRCm39)	F848S	probably benign	Het
Dytn	G	A	1: 63,698,111 (GRCm39)	R299C		Het
Fbxl18	C	T	5: 142,871,502 (GRCm39)	A578T	probably damaging	Het
Gstm7	T	C	3: 107,838,757 (GRCm39)		probably benign	Het
Hspa1l	G	T	17: 35,196,946 (GRCm39)	M328I	probably benign	Het
Itgad	A	T	7: 127,789,324 (GRCm39)	Y596F	probably damaging	Het
Krt19	T	A	11: 100,031,768 (GRCm39)	N395Y	possibly damaging	Het
Lrit1	G	A	14: 36,783,664 (GRCm39)	A331T	probably damaging	Het
Mmp1b	C	T	9: 7,386,346 (GRCm39)	V192I	possibly damaging	Het
Mrc1	C	T	2: 14,253,735 (GRCm39)	A252V	probably damaging	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Nbeal1	A	G	1: 60,299,459 (GRCm39)	D1265G	probably benign	Het
Ndc1	T	C	4: 107,247,623 (GRCm39)	I477T	probably benign	Het
Neo1	A	G	9: 58,897,545 (GRCm39)	F137S	probably benign	Het
Nos2	A	G	11: 78,836,089 (GRCm39)	N384S	probably benign	Het
Nup133	T	C	8: 124,634,500 (GRCm39)	I1031V	probably damaging	Het
Nup98	A	G	7: 101,835,859 (GRCm39)	Y195H	probably damaging	Het
Obscn	C	T	11: 59,026,960 (GRCm39)	C81Y	probably damaging	Het
Or1j10	A	G	2: 36,267,402 (GRCm39)	I205V	probably benign	Het
Pfn2	T	C	3: 57,752,756 (GRCm39)	D55G	probably damaging	Het
Pif1	A	G	9: 65,499,499 (GRCm39)	K485R	probably damaging	Het
Polr1e	A	G	4: 45,018,727 (GRCm39)	E19G	probably damaging	Het
Prkdc	T	A	16: 15,491,624 (GRCm39)		probably benign	Het
Proca1	A	C	11: 78,095,773 (GRCm39)	H135P	probably benign	Het
Psd	T	C	19: 46,310,900 (GRCm39)	K383R	probably damaging	Het
Ptcd1	A	G	5: 145,091,944 (GRCm39)	L385P	probably damaging	Het
Ptpra	T	G	2: 130,386,969 (GRCm39)	I620S	probably damaging	Het
Rad54l2	T	A	9: 106,566,050 (GRCm39)		probably benign	Het
Sgsm1	A	T	5: 113,432,861 (GRCm39)	N262K	probably damaging	Het
Stat1	G	T	1: 52,187,042 (GRCm39)	V450F	probably benign	Het
Thada	G	A	17: 84,736,524 (GRCm39)	T919I	probably benign	Het
Thsd7a	A	T	6: 12,468,992 (GRCm39)	L529I	probably damaging	Het
Ttn	A	G	2: 76,748,863 (GRCm39)	V4062A	probably benign	Het
Usp9y	A	C	Y: 1,332,662 (GRCm39)		probably benign	Het
Vmn2r98	A	G	17: 19,285,531 (GRCm39)	Y117C	possibly damaging	Het
Wdr33	A	T	18: 31,960,393 (GRCm39)	H19L	possibly damaging	Het
Wdr76	C	A	2: 121,372,899 (GRCm39)	H575Q	probably benign	Het
Xab2	A	G	8: 3,663,875 (GRCm39)	V348A	probably damaging	Het
Zfhx2	A	T	14: 55,310,207 (GRCm39)	Y780N	possibly damaging	Het
Zmynd12	T	C	4: 119,302,081 (GRCm39)		probably null	Het

Other mutations in Galr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01992:Galr1	APN	18	82,411,942 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTTTACCACTGTGGAATGTAGTTG -3'
(R):5'- ATCATGTCGTCCACCTCTGG -3'

Sequencing Primer
(F):5'- CTGTGGAGAATAAGCTGCCATGTTAC -3'
(R):5'- CCACCTCTGGGCTGAGTTTG -3'

Posted On

2021-08-31