Mutagenetix > Incidental Mutation

Incidental Mutation 'R0383:Pmch'

31097

Institutional Source

Beutler Lab

Gene Symbol

Pmch

Ensembl Gene

ENSMUSG00000035383

Gene Name

pro-melanin-concentrating hormone

Synonyms

A230109K23Rik, melanin-concentrating hormone, MCH

MMRRC Submission

038589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0383 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87926934-87928236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87927120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 41 (T41K)

Ref Sequence

ENSEMBL: ENSMUSP00000044352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048518] [ENSMUST00000048621]

AlphaFold

P56942

Predicted Effect

probably benign
Transcript: ENSMUST00000048518

SMART Domains

Protein: ENSMUSP00000038375
Gene: ENSMUSG00000035365

Domain	Start	End	E-Value	Type
SCOP:d1pjr_2	154	268	8e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048621
AA Change: T41K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044352
Gene: ENSMUSG00000035383
AA Change: T41K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Pro-MCH	82	165	1.5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220444

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a preproprotein that is cleaved to produce three mature peptides: melanin concentrating hormone, neuropeptide-glutamic acid-isoleucine (NEI), and neuropeptide-glycine-glutamic acid (NGE). The proprotein is processed differently depending on the tissue where it is expressed. Melanin concentrating hormone is involved in the regulation of food intake, energy homeostasis, and sleep-wake behavior. Disruption of this gene is associated with resistance to diet-induced obesity. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene eat less than normal and display increased oxygen consumption, which together results in lower body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	T	11: 80,254,767 (GRCm39)	Y351*	probably null	Het
Aadac	G	T	3: 59,943,368 (GRCm39)	R91L	possibly damaging	Het
Adgrg1	T	A	8: 95,738,370 (GRCm39)	F621Y	probably damaging	Het
Ankmy1	G	T	1: 92,812,775 (GRCm39)	D511E	probably benign	Het
Anks4b	A	T	7: 119,782,097 (GRCm39)	D376V	probably damaging	Het
Aox1	G	T	1: 58,100,400 (GRCm39)	C399F	probably benign	Het
Arfgef1	C	T	1: 10,269,067 (GRCm39)		probably null	Het
Arhgef4	G	A	1: 34,849,614 (GRCm39)	V546M	probably damaging	Het
Cab39	T	A	1: 85,765,020 (GRCm39)	V98E	probably damaging	Het
Cacna1b	T	C	2: 24,651,856 (GRCm39)	N108D	probably damaging	Het
Car15	C	A	16: 17,654,617 (GRCm39)	E134*	probably null	Het
Ccdc80	T	G	16: 44,915,732 (GRCm39)	Y163D	probably damaging	Het
Cdcp3	A	G	7: 130,841,268 (GRCm39)	M537V	probably benign	Het
Col22a1	C	T	15: 71,740,853 (GRCm39)	G513D	unknown	Het
Col8a1	T	C	16: 57,452,805 (GRCm39)	D66G	probably damaging	Het
Crot	C	A	5: 9,018,734 (GRCm39)	S544I	probably damaging	Het
Cubn	G	T	2: 13,435,770 (GRCm39)	P1062Q	probably damaging	Het
Dcc	A	T	18: 71,553,334 (GRCm39)	V774E	probably damaging	Het
Dlgap5	T	A	14: 47,647,818 (GRCm39)	M240L	probably benign	Het
Dlx4	A	G	11: 95,036,261 (GRCm39)	V16A	probably benign	Het
Dnah17	G	T	11: 117,958,373 (GRCm39)	H2703Q	probably benign	Het
Duox2	A	G	2: 122,122,291 (GRCm39)		probably null	Het
Fn1	C	T	1: 71,636,844 (GRCm39)	V168I	probably damaging	Het
Fpr-rs4	A	T	17: 18,242,359 (GRCm39)	D122V	probably damaging	Het
Gas2l2	A	T	11: 83,313,923 (GRCm39)	I463N	probably benign	Het
Ggta1	G	T	2: 35,292,416 (GRCm39)	P297Q	probably damaging	Het
Gpatch3	C	A	4: 133,305,457 (GRCm39)	R231S	probably damaging	Het
Gpc1	T	C	1: 92,782,705 (GRCm39)	Y151H	probably damaging	Het
Gpr141b	A	G	13: 19,913,317 (GRCm39)		noncoding transcript	Het
Gtf2e2	T	C	8: 34,245,973 (GRCm39)	W119R	probably damaging	Het
H2-M10.2	T	C	17: 36,595,253 (GRCm39)	I304V	probably benign	Het
Helq	T	C	5: 100,927,031 (GRCm39)	K685R	probably benign	Het
Hps5	C	T	7: 46,418,712 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,885,818 (GRCm39)	C1186R	probably damaging	Het
Ift43	T	C	12: 86,208,795 (GRCm39)	V158A	possibly damaging	Het
Ift70b	A	G	2: 75,768,586 (GRCm39)	Y56H	probably damaging	Het
Iqca1	A	T	1: 90,070,429 (GRCm39)	I141N	probably damaging	Het
Kat6b	A	G	14: 21,719,149 (GRCm39)	N1276S	probably benign	Het
Kif19a	A	T	11: 114,656,340 (GRCm39)	M1L	possibly damaging	Het
Kif1b	T	G	4: 149,286,969 (GRCm39)	H1241P	probably damaging	Het
Kif26a	T	C	12: 112,144,510 (GRCm39)	V1588A	possibly damaging	Het
Klb	T	A	5: 65,529,842 (GRCm39)		probably null	Het
Krtap26-1	A	T	16: 88,444,131 (GRCm39)	Y163*	probably null	Het
Lefty1	G	T	1: 180,765,199 (GRCm39)	E256*	probably null	Het
Lox	T	C	18: 52,662,271 (GRCm39)	N44S	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mctp1	A	G	13: 76,949,663 (GRCm39)	Y565C	probably damaging	Het
Megf6	C	T	4: 154,349,783 (GRCm39)	A961V	probably benign	Het
Mindy4	A	G	6: 55,253,619 (GRCm39)	K496R	probably benign	Het
Nalcn	A	T	14: 123,744,971 (GRCm39)	H352Q	probably benign	Het
Ncoa5	T	C	2: 164,851,310 (GRCm39)	I188V	possibly damaging	Het
Notum	G	T	11: 120,545,282 (GRCm39)	H426N	probably benign	Het
Or52r1	T	A	7: 102,536,458 (GRCm39)	I301F	possibly damaging	Het
Orm2	A	T	4: 63,282,233 (GRCm39)	D137V	probably damaging	Het
Pabpc2	G	A	18: 39,908,448 (GRCm39)	G571D	probably damaging	Het
Pabpc4	A	G	4: 123,191,735 (GRCm39)	N599S	probably damaging	Het
Pak1ip1	T	C	13: 41,166,080 (GRCm39)	V335A	probably benign	Het
Pcdhb11	A	C	18: 37,556,446 (GRCm39)	D592A	probably damaging	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Pter	G	T	2: 13,005,753 (GRCm39)	G309*	probably null	Het
Ptprg	T	C	14: 12,219,024 (GRCm38)	V406A	possibly damaging	Het
Ranbp3l	A	T	15: 9,063,184 (GRCm39)	E467V	possibly damaging	Het
Rif1	T	A	2: 51,975,153 (GRCm39)	M354K	probably damaging	Het
Ripk4	C	T	16: 97,549,312 (GRCm39)	C248Y	probably damaging	Het
Slc6a15	T	C	10: 103,253,914 (GRCm39)	W617R	probably damaging	Het
Smyd5	C	T	6: 85,417,155 (GRCm39)	Q178*	probably null	Het
St18	T	A	1: 6,873,248 (GRCm39)	F328I	probably damaging	Het
Supt20	T	A	3: 54,610,570 (GRCm39)	L124*	probably null	Het
Tarbp1	T	A	8: 127,174,223 (GRCm39)	H861L	probably benign	Het
Tars1	A	G	15: 11,390,411 (GRCm39)	M356T	probably benign	Het
Tbc1d10a	A	G	11: 4,162,819 (GRCm39)	T221A	probably damaging	Het
Tead3	A	G	17: 28,553,672 (GRCm39)		probably null	Het
Tprg1	A	G	16: 25,240,985 (GRCm39)	T254A	probably damaging	Het
Trank1	C	A	9: 111,220,545 (GRCm39)	N2427K	probably benign	Het
Tufm	T	C	7: 126,089,036 (GRCm39)	S380P	probably damaging	Het
Tyrobp	C	T	7: 30,114,042 (GRCm39)	R68C	probably damaging	Het
Ubl4b	T	C	3: 107,462,143 (GRCm39)	E39G	possibly damaging	Het
Uggt2	A	T	14: 119,286,863 (GRCm39)	F661I	probably damaging	Het
Upf3b	A	G	X: 36,368,120 (GRCm39)	I144T	probably benign	Het
Usp54	A	T	14: 20,611,320 (GRCm39)	D1165E	probably benign	Het
Vmn2r81	C	T	10: 79,129,281 (GRCm39)	T724I	possibly damaging	Het
Vsig1	A	G	X: 139,837,062 (GRCm39)	I247M	possibly damaging	Het
Zfp110	C	A	7: 12,583,187 (GRCm39)	L612I	probably benign	Het
Zfp318	C	A	17: 46,724,222 (GRCm39)	T2075K	probably damaging	Het
Zfp37	A	G	4: 62,110,122 (GRCm39)	M1T	probably null	Het
Zfp605	T	A	5: 110,276,720 (GRCm39)	C613S	probably damaging	Het
Zfp729a	G	A	13: 67,769,792 (GRCm39)	P146S	possibly damaging	Het
Zfp85	T	C	13: 67,896,791 (GRCm39)	N427S	probably benign	Het

Other mutations in Pmch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0505:Pmch	UTSW	10	87,927,221 (GRCm39)	missense	probably benign	0.00
R0525:Pmch	UTSW	10	87,927,262 (GRCm39)	splice site	probably benign
R0836:Pmch	UTSW	10	87,927,086 (GRCm39)	missense	probably benign	0.00
R5454:Pmch	UTSW	10	87,927,707 (GRCm39)	missense	probably damaging	1.00
R5933:Pmch	UTSW	10	87,927,011 (GRCm39)	missense	probably benign
R6189:Pmch	UTSW	10	87,927,248 (GRCm39)	critical splice donor site	probably null
R7714:Pmch	UTSW	10	87,927,242 (GRCm39)	missense	probably benign
R7780:Pmch	UTSW	10	87,927,113 (GRCm39)	missense	probably benign	0.30
R8267:Pmch	UTSW	10	87,926,979 (GRCm39)	start gained	probably benign
R8308:Pmch	UTSW	10	87,927,614 (GRCm39)	missense	probably damaging	0.99
Z1176:Pmch	UTSW	10	87,927,695 (GRCm39)	missense	not run
Z1177:Pmch	UTSW	10	87,927,695 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- GCATTCGCAGCTTTACAAAGGCTC -3'
(R):5'- AAGAAGCTCTACACTGCGTTCACC -3'

Sequencing Primer
(F):5'- TCATTTAGCCACTGGCAGAG -3'
(R):5'- ATGCACACGATGACTGTTTGC -3'

Posted On

2013-04-24