Mutagenetix > Incidental Mutation

Incidental Mutation 'R9074:Mchr1'

689695

Institutional Source

Beutler Lab

Gene Symbol

Mchr1

Ensembl Gene

ENSMUSG00000050164

Gene Name

melanin-concentrating hormone receptor 1

Synonyms

Mch1r, Gpr24, Gpr24-9, MCH-1R, melanin-concentrating hormone receptor 1

MMRRC Submission

068895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R9074 (G1)

Quality Score

145.008

Status

Validated

Chromosome

Chromosomal Location

81119700-81123165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 81119980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2 (D2E)

Ref Sequence

ENSEMBL: ENSMUSP00000126191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166855]

AlphaFold

Q8JZL2

Predicted Effect

probably benign
Transcript: ENSMUST00000166855
AA Change: D2E

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

SMART Domains

Protein: ENSMUSP00000126191
Gene: ENSMUSG00000050164
AA Change: D2E

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	48	184	4e-6	PFAM
Pfam:7TM_GPCR_Srsx	51	325	3.6e-10	PFAM
Pfam:7tm_1	57	311	2.4e-45	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice for some alleles may display osteoporosis, resistance to diet-induced obesity, abnormal pyramidal neuron physiology, hyperactivity, polyphagia, increased heart rate and body temperature, sleep behavior, and impaired conditioned learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,972,257 (GRCm39)		silent	Het
Ackr2	T	A	9: 121,737,729 (GRCm39)	C35S	probably damaging	Het
Adcy8	T	A	15: 64,573,940 (GRCm39)	K1054N	probably damaging	Het
Adgrf1	A	T	17: 43,601,879 (GRCm39)		probably benign	Het
Akap9	T	A	5: 4,127,959 (GRCm39)	I3765K	probably benign	Het
Brwd1	A	T	16: 95,824,610 (GRCm39)	F1219I		Het
Btc	A	T	5: 91,508,603 (GRCm39)		probably null	Het
Cd163	C	T	6: 124,285,947 (GRCm39)	R166*	probably null	Het
Cfap52	G	A	11: 67,822,656 (GRCm39)	S405L	probably benign	Het
Clcn2	A	G	16: 20,531,414 (GRCm39)	L210P	possibly damaging	Het
Creb3l3	T	A	10: 80,924,452 (GRCm39)		probably null	Het
Csn1s2a	A	T	5: 87,934,458 (GRCm39)	I144F	probably benign	Het
Dedd	G	T	1: 171,167,888 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,491,124 (GRCm39)	R537C	probably damaging	Het
Epas1	A	T	17: 87,135,267 (GRCm39)	R633S	probably benign	Het
Fmn2	C	A	1: 174,436,198 (GRCm39)	T723N	unknown	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Ggcx	T	G	6: 72,402,924 (GRCm39)	F294C	probably damaging	Het
Ghr	G	A	15: 3,370,470 (GRCm39)	P132S	possibly damaging	Het
Gm15446	A	T	5: 110,091,299 (GRCm39)	H517L	probably damaging	Het
Gm5862	T	C	5: 26,226,624 (GRCm39)	T93A	probably damaging	Het
Gnb1l	T	A	16: 18,359,745 (GRCm39)	I50N	probably damaging	Het
Greb1l	A	G	18: 10,532,797 (GRCm39)	Y897C	probably damaging	Het
Greb1l	T	C	18: 10,558,795 (GRCm39)	C1817R	probably damaging	Het
Ier5	C	A	1: 154,974,275 (GRCm39)	W301L	probably damaging	Het
Irf2bp2	A	G	8: 127,318,456 (GRCm39)	L370P	probably benign	Het
Itga9	T	A	9: 118,636,344 (GRCm39)	N677K	probably damaging	Het
Itgb7	G	T	15: 102,132,797 (GRCm39)	R172S		Het
Kdm6b	A	T	11: 69,292,977 (GRCm39)	C1266*	probably null	Het
Kmt2c	A	T	5: 25,489,343 (GRCm39)	V4532E	probably damaging	Het
Kprp	A	C	3: 92,732,226 (GRCm39)	F275V	probably damaging	Het
Lrrc4	C	A	6: 28,831,595 (GRCm39)	V7L	probably damaging	Het
Map3k21	G	A	8: 126,664,050 (GRCm39)	R537H	probably damaging	Het
Mixl1	T	C	1: 180,522,245 (GRCm39)	D212G	probably damaging	Het
Mup2	T	C	4: 60,139,717 (GRCm39)	T24A	probably benign	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Naip5	T	C	13: 100,358,264 (GRCm39)	K991E	possibly damaging	Het
Ndufb11b	T	A	15: 81,865,011 (GRCm39)	M84K	probably damaging	Het
Nfe2l1	G	A	11: 96,710,573 (GRCm39)	A552V	possibly damaging	Het
Or2p2	C	T	13: 21,256,784 (GRCm39)	R229H	possibly damaging	Het
Or51r1	T	G	7: 102,228,433 (GRCm39)	S244A	probably damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pds5a	A	G	5: 65,804,479 (GRCm39)	S527P	possibly damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pgc	T	A	17: 48,043,351 (GRCm39)	V233E	probably damaging	Het
Pias1	T	C	9: 62,888,164 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,556,246 (GRCm39)	W72R	unknown	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Proc	A	G	18: 32,268,950 (GRCm39)	S12P	possibly damaging	Het
Rida	T	A	15: 34,488,823 (GRCm39)	Q23L	probably damaging	Het
Slc22a8	A	G	19: 8,587,025 (GRCm39)	E406G	possibly damaging	Het
Slc2a7	A	G	4: 150,242,625 (GRCm39)	T238A	probably benign	Het
Spata31h1	T	A	10: 82,123,894 (GRCm39)	S3039C	possibly damaging	Het
Spp1	A	G	5: 104,588,167 (GRCm39)	I190V	probably benign	Het
Srgap1	T	C	10: 121,628,257 (GRCm39)	D882G	probably damaging	Het
Ssrp1	T	A	2: 84,875,811 (GRCm39)	W557R	probably damaging	Het
Strn	C	G	17: 79,043,790 (GRCm39)	A43P	probably benign	Het
Taf6	A	C	5: 138,180,465 (GRCm39)	Y300D	probably damaging	Het
Tesk2	A	G	4: 116,658,933 (GRCm39)	Y270C	probably damaging	Het
Tnnt3	T	A	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Ubl7	A	G	9: 57,826,637 (GRCm39)	H117R	possibly damaging	Het
Vcan	T	A	13: 89,839,146 (GRCm39)	T2133S	possibly damaging	Het
Vrk2	T	A	11: 26,543,917 (GRCm39)		probably benign	Het
Wdr72	A	C	9: 74,125,902 (GRCm39)	Q1011P	possibly damaging	Het
Wls	T	A	3: 159,615,403 (GRCm39)	I306N	possibly damaging	Het
Zfp654	A	G	16: 64,611,496 (GRCm39)	S283P	probably damaging	Het
Zfp956	C	T	6: 47,939,462 (GRCm39)	T170I	possibly damaging	Het

Other mutations in Mchr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01834:Mchr1	APN	15	81,122,066 (GRCm39)	missense	probably damaging	1.00
IGL02364:Mchr1	APN	15	81,121,480 (GRCm39)	missense	probably benign	0.36
Ketogenic	UTSW	15	81,122,069 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Mchr1	UTSW	15	81,121,417 (GRCm39)	missense	probably benign	0.01
R0412:Mchr1	UTSW	15	81,119,948 (GRCm39)	start gained	probably benign
R1554:Mchr1	UTSW	15	81,120,021 (GRCm39)	missense	probably benign	0.02
R1706:Mchr1	UTSW	15	81,121,364 (GRCm39)	missense	probably damaging	0.99
R1771:Mchr1	UTSW	15	81,121,436 (GRCm39)	missense	probably damaging	1.00
R5522:Mchr1	UTSW	15	81,122,211 (GRCm39)	missense	possibly damaging	0.64
R5930:Mchr1	UTSW	15	81,122,044 (GRCm39)	missense	probably damaging	1.00
R6516:Mchr1	UTSW	15	81,122,069 (GRCm39)	missense	probably damaging	1.00
R6612:Mchr1	UTSW	15	81,122,071 (GRCm39)	missense	probably damaging	0.99
R6978:Mchr1	UTSW	15	81,121,997 (GRCm39)	missense	possibly damaging	0.90
R7583:Mchr1	UTSW	15	81,121,642 (GRCm39)	missense	probably benign	0.29
R9444:Mchr1	UTSW	15	81,121,919 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CTGCCTCCGAATGTTAATGTGTC -3'
(R):5'- CTGTAAGATAAAGTTTCCCAGGCAG -3'

Sequencing Primer
(F):5'- CCTCCGAATGTTAATGTGTCTAGGTG -3'
(R):5'- ATAAAGTTTCCCAGGCAGTTTGGC -3'

Posted On

2021-11-19