Mutagenetix > Incidental Mutation

Incidental Mutation 'R9801:Galr1'

735238

Institutional Source

Beutler Lab

Gene Symbol

Galr1

Ensembl Gene

ENSMUSG00000024553

Gene Name

galanin receptor 1

Synonyms

Galnr1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9801 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82410621-82424902 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82423912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 122 (S122G)

Ref Sequence

ENSEMBL: ENSMUSP00000066381 (fasta)

Gene Model

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

AlphaFold

P56479

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065224
AA Change: S122G

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066381
Gene: ENSMUSG00000024553
AA Change: S122G

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,945,540 (GRCm39)	N330K	probably benign	Het
4933402J07Rik	A	G	8: 88,290,717 (GRCm39)	E25G	probably damaging	Het
Acss3	T	C	10: 106,881,091 (GRCm39)	T297A	possibly damaging	Het
Anks1	A	G	17: 28,227,033 (GRCm39)	E562G	possibly damaging	Het
Atg12	T	C	18: 46,874,460 (GRCm39)	T52A	probably benign	Het
Bbox1	T	A	2: 110,100,418 (GRCm39)	T260S	probably benign	Het
Btbd3	C	T	2: 138,122,368 (GRCm39)	R173*	probably null	Het
Cbr1	A	C	16: 93,406,687 (GRCm39)	R134S	probably damaging	Het
Cdcp2	A	T	4: 106,964,262 (GRCm39)	I371F	possibly damaging	Het
Cntrob	T	C	11: 69,212,233 (GRCm39)	E124G	possibly damaging	Het
Cstf3	T	C	2: 104,421,024 (GRCm39)	S2P	possibly damaging	Het
Ctbs	T	C	3: 146,169,679 (GRCm39)	V312A	probably damaging	Het
Cylc2	T	A	4: 51,228,466 (GRCm39)	V179E	probably null	Het
Dip2c	T	C	13: 9,626,936 (GRCm39)	L658P	probably damaging	Het
Dus4l	A	G	12: 31,698,827 (GRCm39)	I59T	probably damaging	Het
Extl3	A	T	14: 65,314,782 (GRCm39)	N133K	probably benign	Het
Fam83d	T	A	2: 158,610,310 (GRCm39)	C93S	probably damaging	Het
Glra3	G	A	8: 56,563,563 (GRCm39)	V353M	probably damaging	Het
H2-M10.4	A	T	17: 36,771,511 (GRCm39)	N222K	probably damaging	Het
Klra7	C	T	6: 130,205,477 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,809,290 (GRCm39)	V320E	probably damaging	Het
Me3	A	C	7: 89,435,657 (GRCm39)	D164A	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Nbr1	C	A	11: 101,447,025 (GRCm39)	Q4K	probably damaging	Het
Nr1i3	T	C	1: 171,045,252 (GRCm39)	L300P	probably damaging	Het
Pemt	T	A	11: 59,874,287 (GRCm39)	N101I	probably damaging	Het
Pkd1l1	C	A	11: 8,908,964 (GRCm39)	E347*	probably null	Het
Plxna4	C	T	6: 32,140,526 (GRCm39)		probably null	Het
Polq	C	T	16: 36,913,190 (GRCm39)	R2420C	probably damaging	Het
Psg22	T	C	7: 18,456,899 (GRCm39)	Y261H	probably benign	Het
Pum1	C	T	4: 130,481,328 (GRCm39)	S722L	probably benign	Het
Rbl2	T	C	8: 91,822,229 (GRCm39)	Y464H	probably benign	Het
Rnf145	T	A	11: 44,448,112 (GRCm39)	I323N	probably damaging	Het
Rxylt1	T	A	10: 121,926,608 (GRCm39)	N168I	probably damaging	Het
Scgb2b7	A	T	7: 31,404,580 (GRCm39)	V40E	probably damaging	Het
Slmap	G	A	14: 26,143,595 (GRCm39)	A764V	probably damaging	Het
Smarca4	G	T	9: 21,586,397 (GRCm39)	L1139F	probably damaging	Het
Svil	A	G	18: 5,049,062 (GRCm39)	E113G	probably damaging	Het
Taf4b	T	C	18: 14,932,235 (GRCm39)	S196P	probably benign	Het
Tcp10b	A	G	17: 13,281,867 (GRCm39)	E79G	possibly damaging	Het
Tet3	T	A	6: 83,346,436 (GRCm39)	N1334Y	possibly damaging	Het
Tll2	A	G	19: 41,194,993 (GRCm39)	V31A	probably benign	Het
Trappc10	A	G	10: 78,045,263 (GRCm39)	I475T	probably benign	Het
Uba3	T	A	6: 97,162,635 (GRCm39)	D387V	probably benign	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Zfp260	T	C	7: 29,804,937 (GRCm39)	I279T	possibly damaging	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
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
Z1177:Galr1	UTSW	18	82,423,897 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCCGATGGAAAAGACGCTG -3'
(R):5'- GTGGAGAACTTCATTACGCTGG -3'

Sequencing Primer
(F):5'- AAGACGCTGGTGGTAGGCC -3'
(R):5'- AGAACTTCATTACGCTGGTAGTG -3'

Posted On

2022-11-14