Mutagenetix > Incidental Mutation

Incidental Mutation 'R0022:Mc5r'

64811

Institutional Source

Beutler Lab

Gene Symbol

Mc5r

Ensembl Gene

ENSMUSG00000007480

Gene Name

melanocortin 5 receptor

Synonyms

MMRRC Submission

038317-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R0022 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

68470575-68475517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 68471853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 71 (S71A)

Ref Sequence

ENSEMBL: ENSMUSP00000130497 (fasta)

Gene Model

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

AlphaFold

P41149

Predicted Effect

probably benign
Transcript: ENSMUST00000172148
AA Change: S71A

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

SMART Domains

Protein: ENSMUSP00000130497
Gene: ENSMUSG00000007480
AA Change: S71A

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.8%

Validation Efficiency

100% (68/68)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,587,485 (GRCm39)		probably null	Het
Arhgap29	G	A	3: 121,782,586 (GRCm39)	V91I	possibly damaging	Het
Aste1	T	A	9: 105,273,823 (GRCm39)	L21*	probably null	Het
Bpifb5	A	T	2: 154,072,268 (GRCm39)	D325V	probably damaging	Het
Btbd10	G	A	7: 112,924,988 (GRCm39)	Q287*	probably null	Het
Cdc20	T	A	4: 118,292,686 (GRCm39)	H354L	probably damaging	Het
Cdhr3	G	A	12: 33,132,263 (GRCm39)	T120I	probably damaging	Het
Col5a2	G	A	1: 45,422,843 (GRCm39)	R1125*	probably null	Het
Col9a3	A	G	2: 180,261,549 (GRCm39)	D613G	probably damaging	Het
Coro7	C	T	16: 4,451,168 (GRCm39)	R507H	probably benign	Het
Cracdl	C	T	1: 37,667,326 (GRCm39)	R240Q	probably damaging	Het
Crebbp	A	T	16: 3,903,092 (GRCm39)	V2049E	probably damaging	Het
Cryga	T	C	1: 65,142,382 (GRCm39)	I4V	probably damaging	Het
D930020B18Rik	A	G	10: 121,507,675 (GRCm39)	T138A	probably damaging	Het
Dclre1b	G	T	3: 103,710,464 (GRCm39)	H482Q	probably benign	Het
Dpy19l2	A	G	9: 24,607,420 (GRCm39)	S14P	probably benign	Het
Elavl3	C	A	9: 21,948,167 (GRCm39)		probably benign	Het
Ephb6	T	C	6: 41,591,503 (GRCm39)	V220A	probably damaging	Het
Exoc7	A	T	11: 116,188,408 (GRCm39)	I297N	possibly damaging	Het
Gdpd4	A	T	7: 97,632,082 (GRCm39)	N332Y	probably damaging	Het
Ggct	C	A	6: 54,962,887 (GRCm39)	E175*	probably null	Het
Gm5316	T	C	6: 122,877,354 (GRCm39)		noncoding transcript	Het
Hoxa7	T	C	6: 52,194,363 (GRCm39)	N8S	probably damaging	Het
Ifi208	A	G	1: 173,510,612 (GRCm39)	T256A	possibly damaging	Het
Il12rb2	A	G	6: 67,275,903 (GRCm39)	F630S	probably damaging	Het
Kit	A	G	5: 75,783,657 (GRCm39)	N378S	probably benign	Het
Lmntd1	T	A	6: 145,375,716 (GRCm39)	Y74F	probably benign	Het
Lrp1b	A	T	2: 40,888,050 (GRCm39)		probably benign	Het
Ltbp1	T	A	17: 75,671,355 (GRCm39)	V1194D	probably damaging	Het
Mcm7	T	C	5: 138,162,981 (GRCm39)	*390W	probably null	Het
Myo18a	T	C	11: 77,734,059 (GRCm39)		probably null	Het
Naa25	C	A	5: 121,556,039 (GRCm39)	L276M	probably damaging	Het
Nlrp1a	T	G	11: 71,014,207 (GRCm39)	T348P	probably damaging	Het
Nlrp1b	T	G	11: 71,052,755 (GRCm39)	K888T	possibly damaging	Het
Or4f53	A	G	2: 111,087,994 (GRCm39)	Y178C	probably benign	Het
Pabpc6	A	T	17: 9,888,145 (GRCm39)	N135K	probably benign	Het
Pdzd2	G	A	15: 12,371,691 (GRCm39)	A2568V	possibly damaging	Het
Pik3r2	A	G	8: 71,223,545 (GRCm39)	F346S	probably damaging	Het
Pkd1	T	C	17: 24,813,793 (GRCm39)	W4086R	probably damaging	Het
Plekhb2	G	A	1: 34,905,320 (GRCm39)		probably benign	Het
Plxnb2	A	G	15: 89,047,479 (GRCm39)		probably null	Het
Pmfbp1	C	T	8: 110,252,039 (GRCm39)	R395W	probably damaging	Het
Pnldc1	A	G	17: 13,109,006 (GRCm39)	Y497H	probably damaging	Het
Ppp1ca	T	G	19: 4,244,580 (GRCm39)	V213G	possibly damaging	Het
Rapgef2	G	A	3: 78,995,207 (GRCm39)	R814C	probably damaging	Het
Relch	T	A	1: 105,619,627 (GRCm39)		probably benign	Het
Rnasel	A	T	1: 153,636,521 (GRCm39)	I634F	probably damaging	Het
Rnf157	A	T	11: 116,240,276 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,471,011 (GRCm39)	S4567P	probably damaging	Het
Smcr8	T	A	11: 60,671,185 (GRCm39)	W778R	probably damaging	Het
Stat1	T	A	1: 52,179,789 (GRCm39)	L333Q	probably damaging	Het
Strc	A	G	2: 121,198,874 (GRCm39)	L1391P	probably damaging	Het
Tek	G	A	4: 94,725,509 (GRCm39)	V592M	probably damaging	Het
Top1	A	C	2: 160,544,719 (GRCm39)	K278N	possibly damaging	Het
Utrn	C	T	10: 12,585,700 (GRCm39)		probably benign	Het
Wdr7	T	C	18: 63,910,705 (GRCm39)	I699T	probably damaging	Het
Zfp30	A	G	7: 29,491,860 (GRCm39)	E119G	possibly damaging	Het

Other mutations in Mc5r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Mc5r	APN	18	68,472,315 (GRCm39)	missense	probably damaging	1.00
IGL02396:Mc5r	APN	18	68,472,537 (GRCm39)	missense	possibly damaging	0.88
IGL02474:Mc5r	APN	18	68,471,910 (GRCm39)	missense	probably damaging	1.00
IGL02489:Mc5r	APN	18	68,472,597 (GRCm39)	missense	probably damaging	0.99
IGL03323:Mc5r	APN	18	68,472,286 (GRCm39)	missense	probably benign	0.00
R0022:Mc5r	UTSW	18	68,471,853 (GRCm39)	missense	probably benign
R0067:Mc5r	UTSW	18	68,472,637 (GRCm39)	missense	probably damaging	1.00
R0067:Mc5r	UTSW	18	68,472,637 (GRCm39)	missense	probably damaging	1.00
R0883:Mc5r	UTSW	18	68,472,163 (GRCm39)	missense	probably damaging	1.00
R1179:Mc5r	UTSW	18	68,471,741 (GRCm39)	splice site	probably null
R1789:Mc5r	UTSW	18	68,471,741 (GRCm39)	splice site	probably null
R1866:Mc5r	UTSW	18	68,471,741 (GRCm39)	splice site	probably null
R2291:Mc5r	UTSW	18	68,472,435 (GRCm39)	missense	probably damaging	1.00
R4297:Mc5r	UTSW	18	68,472,378 (GRCm39)	missense	probably benign	0.00
R4960:Mc5r	UTSW	18	68,471,890 (GRCm39)	missense	possibly damaging	0.50
R5062:Mc5r	UTSW	18	68,472,352 (GRCm39)	missense	probably damaging	1.00
R5521:Mc5r	UTSW	18	68,472,748 (GRCm39)	missense	possibly damaging	0.73
R5853:Mc5r	UTSW	18	68,472,564 (GRCm39)	missense	probably benign	0.25
R6007:Mc5r	UTSW	18	68,472,318 (GRCm39)	missense	possibly damaging	0.93
R7326:Mc5r	UTSW	18	68,472,739 (GRCm39)	missense	probably damaging	1.00
R9160:Mc5r	UTSW	18	68,472,205 (GRCm39)	missense	probably damaging	1.00
R9287:Mc5r	UTSW	18	68,472,200 (GRCm39)	missense	probably damaging	1.00
R9471:Mc5r	UTSW	18	68,472,127 (GRCm39)	missense	probably damaging	1.00
R9511:Mc5r	UTSW	18	68,472,565 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- GGTTTTGGTACGGTAGGCACACTC -3'
(R):5'- CACCACAGAGATGCAGATCATGGAG -3'

Sequencing Primer
(F):5'- GTAGGCACACTCTGTGCTG -3'
(R):5'- GCAAGTATATGGTGACAGTCTCCC -3'

Posted On

2013-08-06