Mutagenetix > Incidental Mutation

Incidental Mutation 'R7696:Galr2'

593673

Institutional Source

Beutler Lab

Gene Symbol

Galr2

Ensembl Gene

ENSMUSG00000020793

Gene Name

galanin receptor 2

Synonyms

GalR2, mGalR

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116171765-116174764 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116173993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 208 (R208C)

Ref Sequence

ENSEMBL: ENSMUSP00000054062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021147] [ENSMUST00000055872] [ENSMUST00000106411] [ENSMUST00000106413]

AlphaFold

O88854

Predicted Effect

probably benign
Transcript: ENSMUST00000021147

SMART Domains

Protein: ENSMUSP00000021147
Gene: ENSMUSG00000020792

Domain	Start	End	E-Value	Type
coiled coil region	5	37	N/A	INTRINSIC
low complexity region	177	191	N/A	INTRINSIC
Pfam:Exo70	310	691	6.9e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000055872
AA Change: R208C

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

SMART Domains

Protein: ENSMUSP00000054062
Gene: ENSMUSG00000020793
AA Change: R208C

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	35	306	4.1e-12	PFAM
Pfam:7tm_1	41	291	6.4e-52	PFAM
Pfam:7TM_GPCR_Srv	62	307	1.2e-7	PFAM
Pfam:7TM_GPCR_Srw	184	308	4.7e-8	PFAM
low complexity region	347	358	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106411

SMART Domains

Protein: ENSMUSP00000102019
Gene: ENSMUSG00000020792

Domain	Start	End	E-Value	Type
coiled coil region	5	37	N/A	INTRINSIC
low complexity region	177	191	N/A	INTRINSIC
Pfam:Exo70	278	648	4e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106413

SMART Domains

Protein: ENSMUSP00000102021
Gene: ENSMUSG00000020792

Domain	Start	End	E-Value	Type
coiled coil region	5	37	N/A	INTRINSIC
low complexity region	177	191	N/A	INTRINSIC
Pfam:Exo70	309	679	6.4e-83	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Galanin is an important neuromodulator present in the brain, gastrointestinal system, and hypothalamopituitary axis. It is a 30-amino acid non-C-terminally amidated peptide that potently stimulates growth hormone secretion, inhibits cardiac vagal slowing of heart rate, abolishes sinus arrhythmia, and inhibits postprandial gastrointestinal motility. The actions of galanin are mediated through interaction with specific membrane receptors that are members of the 7-transmembrane family of G protein-coupled receptors. GALR2 interacts with the N-terminal residues of the galanin peptide. The primary signaling mechanism for GALR2 is through the phospholipase C/protein kinase C pathway (via Gq), in contrast to GALR1, which communicates its intracellular signal by inhibition of adenylyl cyclase through Gi. However, it has been demonstrated that GALR2 couples efficiently to both the Gq and Gi proteins to simultaneously activate 2 independent signal transduction pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a reduction in exploratory activity. There is also a modest shift in the distribution of different lymphocyte cell types. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	C	T	15: 11,258,224 (GRCm39)	R512C	probably damaging	Het
Afap1l2	C	A	19: 56,902,918 (GRCm39)	V754L	probably damaging	Het
Atp5f1a	T	A	18: 77,868,686 (GRCm39)	I393N	probably damaging	Het
Bbs1	C	T	19: 4,941,017 (GRCm39)		probably null	Het
Bglap2	A	T	3: 88,285,923 (GRCm39)	L12Q	unknown	Het
Bsn	C	T	9: 107,991,700 (GRCm39)	V1351I	probably damaging	Het
Cbx1	T	C	11: 96,697,468 (GRCm39)	V147A	probably damaging	Het
Cep192	T	A	18: 67,953,434 (GRCm39)	S484T	probably damaging	Het
Col18a1	A	T	10: 76,921,106 (GRCm39)	I298K	unknown	Het
Cyp27a1	A	T	1: 74,771,198 (GRCm39)	I128L	probably benign	Het
Dhdds	C	T	4: 133,724,225 (GRCm39)	A30T	probably damaging	Het
Dnajc12	A	G	10: 63,242,911 (GRCm39)	N143S	probably benign	Het
Eno3	T	G	11: 70,552,809 (GRCm39)	N363K	probably benign	Het
Galnt10	T	A	11: 57,660,364 (GRCm39)	D267E	probably damaging	Het
Hif3a	G	A	7: 16,788,712 (GRCm39)	R82C	unknown	Het
Hspg2	T	A	4: 137,239,277 (GRCm39)	F401L	possibly damaging	Het
Iars1	G	T	13: 49,860,214 (GRCm39)	W455L	probably damaging	Het
Irf1	C	T	11: 53,667,162 (GRCm39)	H294Y	probably benign	Het
Itgal	T	C	7: 126,929,356 (GRCm39)	L1091P	probably damaging	Het
Lrrc37a	T	G	11: 103,389,263 (GRCm39)	D2054A	probably benign	Het
Map3k2	T	A	18: 32,353,647 (GRCm39)	H472Q	probably benign	Het
Myo18b	T	C	5: 112,840,158 (GRCm39)	D2545G	probably damaging	Het
Nle1	G	T	11: 82,795,792 (GRCm39)	Y218*	probably null	Het
Pdlim5	A	T	3: 141,983,623 (GRCm39)	S377T	probably benign	Het
Plch1	A	T	3: 63,662,726 (GRCm39)	M259K	probably benign	Het
Pou6f1	A	G	15: 100,481,979 (GRCm39)	V268A	probably benign	Het
Prn	C	A	2: 131,788,365 (GRCm39)	L7I	unknown	Het
Prpf6	C	T	2: 181,250,035 (GRCm39)	A65V	possibly damaging	Het
Rarres1	A	T	3: 67,398,345 (GRCm39)	F138L	probably benign	Het
Ros1	C	T	10: 52,018,379 (GRCm39)	V781M	probably damaging	Het
Sec16a	C	A	2: 26,305,645 (GRCm39)		probably null	Het
Slc44a4	G	A	17: 35,147,676 (GRCm39)	G606D	probably damaging	Het
Slco1a4	A	T	6: 141,756,237 (GRCm39)	C538*	probably null	Het
Slco1c1	A	G	6: 141,513,336 (GRCm39)	Y537C	probably benign	Het
Speg	T	A	1: 75,405,805 (GRCm39)	L3003Q	probably damaging	Het
Ssr3	A	G	3: 65,299,886 (GRCm39)	S25P	probably benign	Het
Stard13	C	A	5: 150,984,267 (GRCm39)	R623L	probably damaging	Het
Tbc1d5	A	G	17: 51,181,605 (GRCm39)	I376T	probably damaging	Het
Tigd4	C	A	3: 84,502,224 (GRCm39)	F380L	possibly damaging	Het
Tmc4	T	C	7: 3,672,574 (GRCm39)	K489E	probably damaging	Het
Tmem114	C	T	16: 8,242,353 (GRCm39)	R55H	probably benign	Het
Tmem168	A	G	6: 13,602,937 (GRCm39)	I143T	probably benign	Het
Tmem87b	C	T	2: 128,683,237 (GRCm39)	T397I	probably damaging	Het
Tom1l1	C	A	11: 90,563,741 (GRCm39)	R173L	probably benign	Het
Trim10	G	A	17: 37,182,644 (GRCm39)	R170K	probably damaging	Het
Usp6nl	T	A	2: 6,429,134 (GRCm39)	Y222N	probably damaging	Het
Vmn2r26	A	T	6: 124,038,494 (GRCm39)	I690F	possibly damaging	Het
Zfp1006	A	G	8: 129,945,794 (GRCm39)	Y344H	probably benign	Het

Other mutations in Galr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Galr2	APN	11	116,173,996 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Galr2	UTSW	11	116,174,084 (GRCm39)	missense	probably benign	0.35
PIT4445001:Galr2	UTSW	11	116,172,474 (GRCm39)	missense	probably benign	0.13
R0426:Galr2	UTSW	11	116,172,517 (GRCm39)	missense	probably damaging	1.00
R1869:Galr2	UTSW	11	116,174,069 (GRCm39)	missense	possibly damaging	0.87
R2059:Galr2	UTSW	11	116,173,765 (GRCm39)	missense	probably damaging	1.00
R4579:Galr2	UTSW	11	116,172,325 (GRCm39)	missense	probably benign
R4666:Galr2	UTSW	11	116,174,455 (GRCm39)	missense	probably benign
R5832:Galr2	UTSW	11	116,172,457 (GRCm39)	missense	probably damaging	1.00
R5974:Galr2	UTSW	11	116,173,852 (GRCm39)	missense	possibly damaging	0.62
R7081:Galr2	UTSW	11	116,173,874 (GRCm39)	missense	probably damaging	0.99
R7155:Galr2	UTSW	11	116,174,408 (GRCm39)	missense	possibly damaging	0.94
R7810:Galr2	UTSW	11	116,173,946 (GRCm39)	missense	probably benign	0.23
R8921:Galr2	UTSW	11	116,173,973 (GRCm39)	missense	probably damaging	1.00
R9231:Galr2	UTSW	11	116,174,335 (GRCm39)	missense	probably benign
R9514:Galr2	UTSW	11	116,174,452 (GRCm39)	missense	probably benign
X0009:Galr2	UTSW	11	116,174,149 (GRCm39)	missense	probably benign	0.14
X0026:Galr2	UTSW	11	116,172,577 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACTGTCCACTCAGGTATCTGG -3'
(R):5'- TACTAGATGTGAAAGGATGCGC -3'

Sequencing Primer
(F):5'- ACTCAGGTATCTGGCCATCCG -3'
(R):5'- CAGGGCGTAAGTGGCAC -3'

Posted On

2019-11-12