Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03323:Mc5r'

416546

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mc5r

Ensembl Gene

ENSMUSG00000007480

Gene Name

melanocortin 5 receptor

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL03323

Quality Score

Status

Chromosome

Chromosomal Location

68337603-68339711 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 68339215 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 215 (T215I)

Ref Sequence

ENSEMBL: ENSMUSP00000130497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172148]

Predicted Effect

probably benign
Transcript: ENSMUST00000172148
AA Change: T215I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000130497
Gene: ENSMUSG00000007480
AA Change: T215I

Domain	Start	End	E-Value	Type
low complexity region	49	62	N/A	INTRINSIC
Pfam:7tm_4	90	314	1.6e-10	PFAM
Pfam:7TM_GPCR_Srsx	94	357	9.8e-10	PFAM
Pfam:7tm_1	100	342	6.2e-33	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the seven-pass transmembrane G protein-coupled melanocortin receptor protein family that stimulate cAMP signal transduction. The encoded protein is a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone and is suggested to play a role in sebum generation. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in a severe defect in water repulsion and thermoregulation due to decreased production of sebaceous lipids. Males exhibit less aggressive and more defensive behavior when placed with wildtype males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	A	T	14: 103,055,294	D418V	probably damaging	Het
Ahdc1	G	A	4: 133,065,428	G1327S	probably benign	Het
Bcl2l15	A	T	3: 103,833,403	I62L	probably benign	Het
Ccdc7a	A	T	8: 129,058,763	D105E	probably benign	Het
Cldn12	C	A	5: 5,508,421	G2V	probably damaging	Het
Eapp	G	T	12: 54,673,615	H272N	probably damaging	Het
Fcrla	A	G	1: 170,927,545		probably benign	Het
Fmnl3	C	T	15: 99,321,281	G787S	probably damaging	Het
Fmo5	G	T	3: 97,639,007		probably null	Het
Golgb1	G	T	16: 36,913,453	E1021*	probably null	Het
Hspa4	A	T	11: 53,265,133	N648K	probably benign	Het
Iigp1	T	C	18: 60,389,824	F5L	probably benign	Het
Lad1	T	A	1: 135,830,974		probably null	Het
Man2b2	T	C	5: 36,818,514	D399G	probably benign	Het
Mx2	A	G	16: 97,546,375	S156G	probably damaging	Het
Necap2	A	T	4: 141,068,222	I242N	possibly damaging	Het
Nme8	C	T	13: 19,688,950	E175K	probably benign	Het
Notch4	T	A	17: 34,582,471	C1098S	probably damaging	Het
Olfr345	T	A	2: 36,640,141	M34K	possibly damaging	Het
Olfr8	T	C	10: 78,955,600	Y132H	probably benign	Het
Osbpl9	A	G	4: 109,062,459		probably benign	Het
Prag1	T	C	8: 36,140,008	S968P	probably damaging	Het
Qsox2	A	G	2: 26,220,979	S125P	probably benign	Het
Rptn	A	G	3: 93,397,153	T598A	probably benign	Het
Slc2a2	G	A	3: 28,726,290	M375I	probably damaging	Het
Tmed9	C	T	13: 55,596,878	T173I	probably damaging	Het
Trank1	A	G	9: 111,352,116	D402G	probably damaging	Het
Ttc21a	G	T	9: 119,940,536		probably benign	Het
Vmn2r58	T	C	7: 41,861,871	M503V	probably benign	Het

Other mutations in Mc5r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Mc5r	APN	18	68339244	missense	probably damaging	1.00
IGL02396:Mc5r	APN	18	68339466	missense	possibly damaging	0.88
IGL02474:Mc5r	APN	18	68338839	missense	probably damaging	1.00
IGL02489:Mc5r	APN	18	68339526	missense	probably damaging	0.99
R0022:Mc5r	UTSW	18	68338782	missense	probably benign
R0022:Mc5r	UTSW	18	68338782	missense	probably benign
R0067:Mc5r	UTSW	18	68339566	missense	probably damaging	1.00
R0067:Mc5r	UTSW	18	68339566	missense	probably damaging	1.00
R0883:Mc5r	UTSW	18	68339092	missense	probably damaging	1.00
R1179:Mc5r	UTSW	18	68338670	splice site	probably null
R1789:Mc5r	UTSW	18	68338670	splice site	probably null
R1866:Mc5r	UTSW	18	68338670	splice site	probably null
R2291:Mc5r	UTSW	18	68339364	missense	probably damaging	1.00
R4297:Mc5r	UTSW	18	68339307	missense	probably benign	0.00
R4960:Mc5r	UTSW	18	68338819	missense	possibly damaging	0.50
R5062:Mc5r	UTSW	18	68339281	missense	probably damaging	1.00
R5521:Mc5r	UTSW	18	68339677	missense	possibly damaging	0.73
R5853:Mc5r	UTSW	18	68339493	missense	probably benign	0.25
R6007:Mc5r	UTSW	18	68339247	missense	possibly damaging	0.93
R7326:Mc5r	UTSW	18	68339668	missense	probably damaging	1.00

Posted On

2016-08-02