Mutagenetix > Incidental Mutation

Incidental Mutation 'R9231:Galr2'

700253

Institutional Source

Beutler Lab

Gene Symbol

Galr2

Ensembl Gene

ENSMUSG00000020793

Gene Name

galanin receptor 2

Synonyms

GalR2, mGalR

MMRRC Submission

068985-MU

Accession Numbers

Essential gene?

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

Stock #

R9231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116171765-116174764 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116174335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 322 (C322R)

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 benign
Transcript: ENSMUST00000055872
AA Change: C322R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054062
Gene: ENSMUSG00000020793
AA Change: C322R

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

Meta Mutation Damage Score

0.0713

Coding Region Coverage

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

Validation Efficiency

98% (60/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,349,153 (GRCm39)	Q1073R	probably benign	Het
Akirin2	A	G	4: 34,551,072 (GRCm39)	T10A	possibly damaging	Het
Ankrd13a	T	A	5: 114,942,295 (GRCm39)	I526N	probably damaging	Het
Ankrd28	A	G	14: 31,429,234 (GRCm39)	V876A	possibly damaging	Het
Aqp8	T	A	7: 123,061,813 (GRCm39)	M11K	probably benign	Het
Catsper3	T	C	13: 55,946,705 (GRCm39)	I134T	possibly damaging	Het
Cdk9	G	T	2: 32,598,006 (GRCm39)	T350N	probably benign	Het
Ckmt2	G	T	13: 92,011,311 (GRCm39)	H100N	probably damaging	Het
Cnnm4	A	T	1: 36,511,258 (GRCm39)	D162V	probably benign	Het
Cnppd1	T	C	1: 75,116,261 (GRCm39)	H108R	possibly damaging	Het
Col17a1	G	A	19: 47,667,861 (GRCm39)	R139*	probably null	Het
Cyp2c65	C	T	19: 39,060,661 (GRCm39)	P174S	possibly damaging	Het
Dync2li1	A	G	17: 84,935,819 (GRCm39)	S39G	probably null	Het
Ecpas	A	G	4: 58,875,533 (GRCm39)	Y144H	probably damaging	Het
Eif2ak4	A	G	2: 118,271,662 (GRCm39)	D882G	probably benign	Het
Emp1	C	T	6: 135,354,276 (GRCm39)	T23I	probably damaging	Het
Epha8	T	A	4: 136,673,226 (GRCm39)	D186V	probably damaging	Het
Fam169a	T	G	13: 97,254,967 (GRCm39)	D394E	probably benign	Het
Fam20b	T	C	1: 156,509,084 (GRCm39)	D376G	probably benign	Het
Fgfbp3	C	T	19: 36,896,193 (GRCm39)	A142T	possibly damaging	Het
Flg2	C	T	3: 93,109,508 (GRCm39)	S512L	unknown	Het
Fras1	T	A	5: 96,692,904 (GRCm39)	C188S	probably damaging	Het
Gbe1	T	A	16: 70,284,989 (GRCm39)	M437K	possibly damaging	Het
Glt1d1	T	A	5: 127,754,341 (GRCm39)	L181Q	probably damaging	Het
Gpr180	G	A	14: 118,395,455 (GRCm39)	V296I	probably damaging	Het
Gucy1a1	C	T	3: 82,013,308 (GRCm39)	E445K	probably damaging	Het
H2-T24	T	C	17: 36,331,363 (GRCm39)	D14G	possibly damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Ing5	T	G	1: 93,739,505 (GRCm39)	D37E	probably benign	Het
Kcnt1	A	G	2: 25,801,074 (GRCm39)	T1051A	probably benign	Het
Kif1b	A	T	4: 149,275,652 (GRCm39)	S1420T	possibly damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kmt2a	A	G	9: 44,759,912 (GRCm39)	F646L	probably damaging	Het
Lrp1	T	C	10: 127,382,268 (GRCm39)	D3731G	probably benign	Het
Mif	T	A	10: 75,695,370 (GRCm39)	I97F	probably damaging	Het
Mpp4	A	T	1: 59,163,833 (GRCm39)	V507D	probably damaging	Het
Mrpl1	C	A	5: 96,361,719 (GRCm39)	N35K	probably benign	Het
Naf1	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 67,313,146 (GRCm39)		probably benign	Het
Nat8f6	A	G	6: 85,785,630 (GRCm39)	V173A	probably damaging	Het
Ninl	C	T	2: 150,792,129 (GRCm39)	R798Q	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Or10a49	T	C	7: 108,467,840 (GRCm39)	I174V	possibly damaging	Het
Or1af1	A	T	2: 37,109,989 (GRCm39)	M163L	possibly damaging	Het
Paqr8	A	G	1: 21,005,875 (GRCm39)	H343R	probably benign	Het
Parp14	A	G	16: 35,661,583 (GRCm39)	V1455A	probably damaging	Het
Parp3	A	T	9: 106,350,891 (GRCm39)	S334T	probably benign	Het
Pcbp2	T	G	15: 102,394,477 (GRCm39)		probably null	Het
Perm1	A	T	4: 156,302,234 (GRCm39)	E259D	probably damaging	Het
Plce1	A	T	19: 38,705,040 (GRCm39)	N815I	probably benign	Het
Plxnb1	A	T	9: 108,934,286 (GRCm39)	D838V	possibly damaging	Het
Prdm12	A	G	2: 31,530,265 (GRCm39)	D52G	probably benign	Het
Rac2	T	C	15: 78,450,223 (GRCm39)	N39S	probably damaging	Het
Smchd1	A	T	17: 71,672,084 (GRCm39)	C1657S	probably benign	Het
Sugct	T	A	13: 17,627,071 (GRCm39)	T261S	probably damaging	Het
Tbc1d10a	T	C	11: 4,164,885 (GRCm39)	L446P	probably damaging	Het
Tcp1	T	A	17: 13,136,761 (GRCm39)	D47E	probably damaging	Het
Tenm3	T	A	8: 48,689,231 (GRCm39)	T2119S	probably damaging	Het
Tent5a	T	G	9: 85,208,388 (GRCm39)	D145A	possibly damaging	Het
Tmem132b	T	C	5: 125,860,531 (GRCm39)	M592T	probably damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Vinac1	A	T	2: 128,879,340 (GRCm39)	I862N	unknown	Het
Washc2	C	A	6: 116,235,899 (GRCm39)	D1123E	probably benign	Het
Wee2	A	G	6: 40,440,089 (GRCm39)	I412M	probably damaging	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
R7696:Galr2	UTSW	11	116,173,993 (GRCm39)	missense	probably damaging	1.00
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
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'- TCATCGTGGCGGTACTCTTC -3'
(R):5'- AGAAGCTGTTAGATGCCCTTTG -3'

Sequencing Primer
(F):5'- TGTTGGATGCCCCACCAC -3'
(R):5'- GGTCCTTTAACAGGCTGGATC -3'

Posted On

2022-02-07