Mutagenetix > Incidental Mutation

Incidental Mutation 'R8327:Mreg'

644138

Institutional Source

Beutler Lab

Gene Symbol

Mreg

Ensembl Gene

ENSMUSG00000039395

Gene Name

melanoregulin

Synonyms

LOC381269, dsu, Wdt2

MMRRC Submission

067858-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8327 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72198601-72251466 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72203257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 107 (R107L)

Ref Sequence

ENSEMBL: ENSMUSP00000041878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048860]

AlphaFold

Q6NVG5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048860
AA Change: R107L

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041878
Gene: ENSMUSG00000039395
AA Change: R107L

Domain	Start	End	E-Value	Type
low complexity region	7	26	N/A	INTRINSIC
Pfam:MREG	44	192	5.2e-74	PFAM

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

PHENOTYPE: A spontaneous suppressor mutation restores normal melanocyte morphology and therefore coat color in mutations producing coat color dilution. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,331,685 (GRCm39)	D843V	possibly damaging	Het
6330409D20Rik	T	A	2: 32,627,623 (GRCm39)	Q111L	unknown	Het
Abcc5	C	A	16: 20,241,068 (GRCm39)	R39L	probably benign	Het
Acbd3	C	A	1: 180,566,158 (GRCm39)	Q284K	probably damaging	Het
Adgrv1	C	T	13: 81,593,462 (GRCm39)	R4175H	probably damaging	Het
Ankrd27	T	C	7: 35,300,985 (GRCm39)	L95P	probably damaging	Het
Apc2	T	G	10: 80,137,764 (GRCm39)	D68E	probably damaging	Het
Apob	A	T	12: 8,051,015 (GRCm39)	I1093F	possibly damaging	Het
Arid2	T	A	15: 96,260,485 (GRCm39)	D411E	probably damaging	Het
Astn1	T	A	1: 158,436,850 (GRCm39)	Y811N	probably damaging	Het
Calhm5	A	C	10: 33,972,064 (GRCm39)	F124V	probably damaging	Het
Ccdc187	T	C	2: 26,170,630 (GRCm39)	H616R	probably benign	Het
Ccdc198	C	T	14: 49,470,356 (GRCm39)	G197S	possibly damaging	Het
Clca4b	T	C	3: 144,627,762 (GRCm39)	Y403C	possibly damaging	Het
Dagla	C	T	19: 10,228,451 (GRCm39)	V656I	probably benign	Het
Dguok	A	C	6: 83,464,061 (GRCm39)	W166G	probably damaging	Het
Dlg5	G	A	14: 24,196,388 (GRCm39)	A1603V	probably damaging	Het
Fanca	G	A	8: 124,039,984 (GRCm39)	Q138*	probably null	Het
Fbxl19	T	A	7: 127,347,520 (GRCm39)	C25*	probably null	Het
Gm49383	C	A	12: 69,243,643 (GRCm39)	E79*	probably null	Het
Lcor	C	T	19: 41,570,996 (GRCm39)	S63L	probably damaging	Het
Lrp2	T	C	2: 69,322,268 (GRCm39)	Y1887C	probably damaging	Het
Mast3	T	C	8: 71,232,062 (GRCm39)	D1305G	probably damaging	Het
Nbn	T	A	4: 15,981,470 (GRCm39)	S521T	probably benign	Het
Nxpe2	C	A	9: 48,231,059 (GRCm39)	V437L	probably benign	Het
Or2t49	T	C	11: 58,392,942 (GRCm39)	M153V	probably benign	Het
Or51s1	A	T	7: 102,558,926 (GRCm39)	I40N	probably damaging	Het
Or8c13	T	C	9: 38,091,186 (GRCm39)	E311G	possibly damaging	Het
Pcdhb5	A	C	18: 37,453,953 (GRCm39)	K111T	probably benign	Het
Pi4kb	A	G	3: 94,906,192 (GRCm39)	I580V	probably benign	Het
Plaat3	T	C	19: 7,556,514 (GRCm39)	L105P	probably benign	Het
Rbm15b	A	G	9: 106,761,646 (GRCm39)	S841P	probably benign	Het
Reep2	A	G	18: 34,975,566 (GRCm39)	N31S	probably damaging	Het
Scmh1	C	T	4: 120,379,699 (GRCm39)	H505Y	probably benign	Het
Setd1a	T	A	7: 127,390,669 (GRCm39)	L1115H	unknown	Het
Slc26a3	A	G	12: 31,516,430 (GRCm39)	D596G	possibly damaging	Het
Smg5	G	T	3: 88,252,714 (GRCm39)	A167S	probably damaging	Het
Supv3l1	T	C	10: 62,277,004 (GRCm39)	T255A	probably damaging	Het
Synrg	G	A	11: 83,899,731 (GRCm39)	A568T	probably benign	Het
Tmem132a	G	T	19: 10,836,311 (GRCm39)	P740T	probably benign	Het
Tmem181a	T	C	17: 6,351,680 (GRCm39)	L353P	probably damaging	Het
Tubgcp3	T	C	8: 12,704,343 (GRCm39)	E242G	probably benign	Het
Vmn2r77	A	T	7: 86,450,680 (GRCm39)	T189S	probably benign	Het
Zfp638	T	G	6: 83,905,679 (GRCm39)	L44W	probably damaging	Het
Zfp715	G	A	7: 42,947,482 (GRCm39)	T826I	possibly damaging	Het
Zfp865	G	A	7: 5,034,058 (GRCm39)	S681N	probably benign	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	Het

Other mutations in Mreg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Mreg	APN	1	72,203,291 (GRCm39)	missense	probably benign	0.03
IGL01475:Mreg	APN	1	72,203,325 (GRCm39)	splice site	probably benign
IGL02473:Mreg	APN	1	72,201,495 (GRCm39)	missense	probably damaging	1.00
R0044:Mreg	UTSW	1	72,201,534 (GRCm39)	missense	probably damaging	1.00
R1635:Mreg	UTSW	1	72,231,356 (GRCm39)	missense	probably benign	0.00
R2281:Mreg	UTSW	1	72,231,223 (GRCm39)	missense	probably damaging	0.98
R4880:Mreg	UTSW	1	72,201,495 (GRCm39)	missense	probably damaging	1.00
R5343:Mreg	UTSW	1	72,200,117 (GRCm39)	missense	probably damaging	1.00
R5723:Mreg	UTSW	1	72,201,527 (GRCm39)	missense	probably damaging	1.00
R5945:Mreg	UTSW	1	72,231,359 (GRCm39)	missense	probably benign	0.00
R7673:Mreg	UTSW	1	72,200,123 (GRCm39)	missense	probably benign	0.00
R9128:Mreg	UTSW	1	72,231,216 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCGATTTAAGTCAAGGAGCTGG -3'
(R):5'- TAGCGTTCCTGTCAGCTCTG -3'

Sequencing Primer
(F):5'- AGCTGGTTAGGAAGCCGC -3'
(R):5'- GTCAGCTCTGCCTCACCTATG -3'

Posted On

2020-09-02