Mutagenetix > Incidental Mutation

Incidental Mutation 'R5521:Mc5r'

431584

Institutional Source

Beutler Lab

Gene Symbol

Mc5r

Ensembl Gene

ENSMUSG00000007480

Gene Name

melanocortin 5 receptor

Synonyms

MMRRC Submission

043080-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R5521 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68337603-68339711 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68339677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 369 (L369H)

Ref Sequence

ENSEMBL: ENSMUSP00000130497 (fasta)

Gene Model

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

AlphaFold

P41149

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172148
AA Change: L369H

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130497
Gene: ENSMUSG00000007480
AA Change: L369H

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 97.5%
10x: 94.4%
20x: 87.5%

Validation Efficiency

94% (72/77)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,279,683		probably benign	Het
Abhd14a	G	T	9: 106,443,834	D107E	probably damaging	Het
Acat1	T	A	9: 53,583,507	K362*	probably null	Het
Adad2	T	A	8: 119,612,789	S3R	probably benign	Het
Adcy8	C	A	15: 64,815,350	R435M	probably damaging	Het
Adgrv1	A	T	13: 81,419,389	S5222T	probably benign	Het
Ankk1	A	T	9: 49,420,448	M182K	probably benign	Het
Apba1	C	T	19: 23,893,593	P263L	probably damaging	Het
Arhgap39	G	A	15: 76,765,494	S26L	possibly damaging	Het
Ccng1	G	A	11: 40,752,266	T118I	possibly damaging	Het
Cenpe	T	C	3: 135,269,065	S2329P	probably damaging	Het
Chil4	A	G	3: 106,203,697	Y294H	possibly damaging	Het
Chst8	A	C	7: 34,675,245	S390A	probably benign	Het
Dars	T	C	1: 128,373,973	D308G	probably benign	Het
Dlec1	A	C	9: 119,143,401	Q1458P	possibly damaging	Het
Dvl2	G	A	11: 70,006,407	E312K	probably damaging	Het
Fchsd1	T	C	18: 37,966,484	H219R	probably damaging	Het
Foxd4	A	C	19: 24,899,643	C398G	probably damaging	Het
Gm10719	T	A	9: 3,018,970	F72I	probably damaging	Het
Gm5414	T	C	15: 101,627,987	I68V	probably benign	Het
Gmip	C	T	8: 69,817,399	T684I	probably damaging	Het
Gpr137c	T	C	14: 45,278,694	I295T	possibly damaging	Het
Hivep1	T	A	13: 42,158,328	M1348K	probably damaging	Het
Igkv6-23	T	C	6: 70,260,613	D48G	probably benign	Het
Il3	G	A	11: 54,267,132	T40M	possibly damaging	Het
Ing2	T	C	8: 47,669,213	E100G	probably damaging	Het
Itpr3	C	A	17: 27,107,334	H1359Q	probably benign	Het
Lama1	T	A	17: 67,780,894	Y1502*	probably null	Het
Mamdc2	C	A	19: 23,310,938	G579W	probably damaging	Het
Mapk6	G	A	9: 75,393,316		probably benign	Het
Mapk8ip2	C	T	15: 89,458,804	R616W	probably damaging	Het
Meis1	T	C	11: 18,988,260		probably benign	Het
Mmp8	A	G	9: 7,560,643	K107R	probably benign	Het
Mn1	C	T	5: 111,421,769	H1202Y	possibly damaging	Het
Naip2	A	G	13: 100,154,914	L1172P	probably damaging	Het
Nek9	C	T	12: 85,327,445	D273N	probably benign	Het
Nlrp4e	A	T	7: 23,321,765	D559V	probably benign	Het
Nlrp4g	T	C	9: 124,350,020		noncoding transcript	Het
Oit3	G	T	10: 59,435,914	A207E	probably benign	Het
Olfr1140	A	G	2: 87,747,062	I289V	probably benign	Het
Olfr298	A	T	7: 86,488,631	C307S	probably benign	Het
Olfr462	A	T	11: 87,889,719	M59K	probably damaging	Het
Olfr71	A	T	4: 43,705,788	M260K	possibly damaging	Het
Pde4c	T	C	8: 70,747,382		probably null	Het
Ppp1r26	A	G	2: 28,451,426	E356G	probably benign	Het
Pramef12	A	G	4: 144,395,971	M1T	probably null	Het
Ptges3-ps	T	A	6: 85,844,321		noncoding transcript	Het
Ptpn13	T	G	5: 103,501,428	F232L	probably benign	Het
Reps1	T	C	10: 18,104,234	S114P	probably damaging	Het
Scarf2	T	A	16: 17,803,602		probably null	Het
Sdha	A	T	13: 74,350,099		probably benign	Het
Secisbp2l	A	T	2: 125,752,977	V146D	possibly damaging	Het
Slc26a8	T	A	17: 28,654,859	T385S	probably benign	Het
Slc4a1	G	A	11: 102,353,266	T679M	probably benign	Het
Tbc1d14	T	A	5: 36,520,552	E353V	probably damaging	Het
Thap2	T	A	10: 115,372,760	K152*	probably null	Het
Thbd	A	T	2: 148,407,735	I71N	probably damaging	Het
V1ra8	T	A	6: 90,203,054	W80R	probably damaging	Het
Vmn1r218	A	G	13: 23,136,573	Y30C	probably benign	Het
Vmn2r60	C	A	7: 42,195,625	T804K	probably damaging	Het
Vmn2r68	A	T	7: 85,233,718	D275E	probably benign	Het
Vps13c	A	G	9: 67,951,439	I2724V	probably benign	Het
Xrcc5	C	A	1: 72,346,271	P507Q	probably damaging	Het
Zfp120	A	T	2: 150,117,579	Y274*	probably null	Het
Zfp780b	C	A	7: 27,974,748		probably null	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
IGL03323:Mc5r	APN	18	68339215	missense	probably benign	0.00
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
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
R9160:Mc5r	UTSW	18	68339134	missense	probably damaging	1.00
R9287:Mc5r	UTSW	18	68339129	missense	probably damaging	1.00
R9471:Mc5r	UTSW	18	68339056	missense	probably damaging	1.00
R9511:Mc5r	UTSW	18	68339494	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- CACCATGCTACTGGGGATTTTC -3'
(R):5'- CCACGGAGACAATTCACATGTG -3'

Sequencing Primer
(F):5'- TAATGATCTCCTGCCCTCAGAACG -3'
(R):5'- AATTCACATGTGCATACCTCGG -3'

Posted On

2016-10-05