Mutagenetix > Incidental Mutation

Incidental Mutation 'R9514:Galr2'

718398

Institutional Source

Beutler Lab

Gene Symbol

Galr2

Ensembl Gene

ENSMUSG00000020793

Gene Name

galanin receptor 2

Synonyms

GalR2, mGalR

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9514 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116171765-116174764 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116174452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 361 (T361A)

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: T361A

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

SMART Domains

Protein: ENSMUSP00000054062
Gene: ENSMUSG00000020793
AA Change: T361A

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,312,533 (GRCm39)	S4P	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Acsl6	A	G	11: 54,225,880 (GRCm39)	N307D	probably benign	Het
Atxn1	A	G	13: 45,721,433 (GRCm39)	V154A	probably benign	Het
Bltp3a	A	G	17: 28,112,414 (GRCm39)	D1201G	probably damaging	Het
Cacna2d4	T	C	6: 119,213,611 (GRCm39)	L10S	probably benign	Het
Cd33	A	T	7: 43,182,150 (GRCm39)	H98Q	probably benign	Het
Cebpz	A	T	17: 79,239,684 (GRCm39)	M579K	probably benign	Het
Cenpk	T	G	13: 104,370,682 (GRCm39)	C103G	probably benign	Het
Cep97	T	A	16: 55,726,093 (GRCm39)	Q670L	probably benign	Het
Cfap65	C	T	1: 74,945,468 (GRCm39)		probably null	Het
Cir1	A	G	2: 73,142,781 (GRCm39)	S18P	probably damaging	Het
Coprs	T	C	8: 13,935,081 (GRCm39)	Y158C	probably damaging	Het
Creld1	T	C	6: 113,469,765 (GRCm39)	F389S	probably damaging	Het
Dimt1	T	C	13: 107,093,636 (GRCm39)	I276T	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dsp	T	A	13: 38,371,781 (GRCm39)	C911S	probably benign	Het
Egr3	A	G	14: 70,314,978 (GRCm39)	I29V	probably benign	Het
Fam186a	A	G	15: 99,844,766 (GRCm39)	S493P	unknown	Het
Fam83a	G	A	15: 57,849,765 (GRCm39)	G103D	possibly damaging	Het
Fat2	T	A	11: 55,175,808 (GRCm39)	Q1635L	probably damaging	Het
Figla	A	C	6: 85,997,689 (GRCm39)	H139P	probably benign	Het
Fryl	T	C	5: 73,262,115 (GRCm39)	K551E	probably damaging	Het
Gart	A	T	16: 91,427,596 (GRCm39)	S467R	probably benign	Het
Ggps1	T	C	13: 14,229,742 (GRCm39)	K45R	probably benign	Het
Ghsr	G	C	3: 27,426,630 (GRCm39)	V229L	possibly damaging	Het
H2ac21	A	G	3: 96,127,401 (GRCm39)	E57G	probably damaging	Het
Hectd2	A	T	19: 36,582,689 (GRCm39)	H473L	possibly damaging	Het
Hic2	T	C	16: 17,076,293 (GRCm39)	V374A	possibly damaging	Het
Hivep2	T	A	10: 14,005,523 (GRCm39)	I707N	probably benign	Het
Il17rc	T	C	6: 113,449,741 (GRCm39)	S116P	probably damaging	Het
Krt34	A	T	11: 99,929,226 (GRCm39)	I328N	probably damaging	Het
Krt79	G	A	15: 101,840,288 (GRCm39)	R303C	probably damaging	Het
Lama2	T	C	10: 27,100,015 (GRCm39)	E830G	probably benign	Het
Lamb2	C	T	9: 108,358,006 (GRCm39)	T149I	probably damaging	Het
Mau2	T	C	8: 70,480,153 (GRCm39)	Y318C	probably damaging	Het
Mier2	T	C	10: 79,377,496 (GRCm39)	S486G	probably benign	Het
Mllt10	A	G	2: 18,164,322 (GRCm39)	D284G	probably damaging	Het
Nbea	A	T	3: 55,937,366 (GRCm39)	S748R	probably damaging	Het
Ncoa6	A	G	2: 155,248,133 (GRCm39)	S1724P	probably benign	Het
Nipal4	T	A	11: 46,052,922 (GRCm39)		probably null	Het
Nlrc4	G	C	17: 74,753,736 (GRCm39)	L216V	probably benign	Het
Ogfr	A	G	2: 180,235,417 (GRCm39)	M164V	possibly damaging	Het
Or1o4	G	T	17: 37,591,386 (GRCm39)		probably benign	Het
Or4b12	G	A	2: 90,096,709 (GRCm39)	Q22*	probably null	Het
Pcdha12	G	T	18: 37,155,526 (GRCm39)	W748C	probably damaging	Het
Pkd1l3	T	C	8: 110,395,849 (GRCm39)	V2083A	probably damaging	Het
Plin3	C	A	17: 56,587,824 (GRCm39)	G297V	probably benign	Het
Prex1	C	T	2: 166,419,896 (GRCm39)	R1260Q	possibly damaging	Het
Prpf38b	A	G	3: 108,818,619 (GRCm39)	V47A	probably benign	Het
Ptch1	T	C	13: 63,675,071 (GRCm39)	T851A	probably benign	Het
Ptk7	T	A	17: 46,887,744 (GRCm39)	I563F	possibly damaging	Het
Ptprm	A	G	17: 67,116,466 (GRCm39)	Y938H	probably damaging	Het
R3hcc1l	G	A	19: 42,507,203 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,443,684 (GRCm39)	V89A	probably benign	Het
Sh2b1	CTC	CTCCGCCACGGGGACCAGTTC	7: 126,066,770 (GRCm39)		probably benign	Het
Sh2b1	AGCTCAGCCACGGGGACC	AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	ACCAGCTC	ACCAGCTCAGCCACGGGGGCCAGCTC	7: 126,066,765 (GRCm39)		probably benign	Het
Slain1	T	A	14: 103,932,748 (GRCm39)	V444E	probably damaging	Het
Slc10a5	T	A	3: 10,400,532 (GRCm39)	I43F	possibly damaging	Het
Smarca2	T	C	19: 26,659,452 (GRCm39)	F914S	possibly damaging	Het
Smarca5	A	C	8: 81,428,840 (GRCm39)	L1003V	probably damaging	Het
Spata18	A	T	5: 73,829,840 (GRCm39)	I332F		Het
Spata31d1e	A	G	13: 59,890,806 (GRCm39)	V338A	probably damaging	Het
Stard9	C	G	2: 120,534,564 (GRCm39)	P3607R	probably damaging	Het
Tbx19	A	G	1: 164,966,546 (GRCm39)	S443P	unknown	Het
Tktl2	C	G	8: 66,965,840 (GRCm39)	A466G	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,815,122 (GRCm39)	V17A	probably benign	Het
Tom1l2	T	C	11: 60,153,486 (GRCm39)	T164A	probably damaging	Het
Tor1aip1	T	A	1: 155,906,177 (GRCm39)	D205V	probably damaging	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Trim11	G	T	11: 58,878,477 (GRCm39)	A251S	unknown	Het
Trim33	T	C	3: 103,239,074 (GRCm39)	V684A	probably benign	Het
Triobp	C	T	15: 78,877,378 (GRCm39)	R1637C	probably damaging	Het
Trpm3	A	G	19: 22,960,040 (GRCm39)	N1225S	probably benign	Het
Usp21	T	C	1: 171,112,503 (GRCm39)	Y300C	probably damaging	Het
Usp32	T	C	11: 84,913,560 (GRCm39)	T924A	probably damaging	Het
Vmn1r198	A	T	13: 22,539,015 (GRCm39)	H167L	possibly damaging	Het
Vmn2r23	A	G	6: 123,689,672 (GRCm39)	T183A	probably benign	Het
Zc3h8	T	C	2: 128,773,223 (GRCm39)	Y213C	probably damaging	Het
Zcchc17	A	T	4: 130,232,337 (GRCm39)	D55E	probably benign	Het
Zfp408	A	T	2: 91,478,368 (GRCm39)	W26R	probably damaging	Het
Zfp937	G	T	2: 150,080,890 (GRCm39)	A307S	possibly 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
R9231:Galr2	UTSW	11	116,174,335 (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'- CTGGTCTCCAAGCATTTCCG -3'
(R):5'- ATGGAAGGGCTATGTCACCAC -3'

Sequencing Primer
(F):5'- AAGCATTTCCGCAAAGGTTTCCG -3'
(R):5'- AAGGGCTATGTCACCACTCTCG -3'

Posted On

2022-07-18