Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02221:Mmd2'

285161

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmd2

Ensembl Gene

ENSMUSG00000039533

Gene Name

monocyte to macrophage differentiation-associated 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02221

Quality Score

Status

Chromosome

Chromosomal Location

142549229-142594886 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 142555212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037048]

AlphaFold

Q8R189

Predicted Effect

probably benign
Transcript: ENSMUST00000037048

SMART Domains

Protein: ENSMUSP00000039357
Gene: ENSMUSG00000039533

Domain	Start	End	E-Value	Type
Pfam:HlyIII	33	228	5.2e-21	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 PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,333,907 (GRCm39)	I24M	probably benign	Het
Ano5	G	A	7: 51,220,071 (GRCm39)	D390N	probably damaging	Het
Atp2c2	A	G	8: 120,471,073 (GRCm39)	Y407C	probably damaging	Het
B430306N03Rik	T	C	17: 48,631,223 (GRCm39)		probably benign	Het
Cd44	A	T	2: 102,676,858 (GRCm39)	M269K	probably benign	Het
Cdin1	T	C	2: 115,469,547 (GRCm39)		probably null	Het
Cpped1	G	T	16: 11,646,392 (GRCm39)	P144Q	probably damaging	Het
Epas1	C	T	17: 87,135,275 (GRCm39)	T636M	possibly damaging	Het
Hsd17b3	G	T	13: 64,236,865 (GRCm39)	H26Q	probably benign	Het
Ighv8-9	A	G	12: 115,431,947 (GRCm39)		probably benign	Het
Itih1	A	T	14: 30,651,544 (GRCm39)	C883S	probably damaging	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Lcn3	A	T	2: 25,656,172 (GRCm39)	M76L	probably benign	Het
Lin9	A	T	1: 180,478,399 (GRCm39)	M53L	probably benign	Het
Mast1	A	G	8: 85,645,384 (GRCm39)	V687A	possibly damaging	Het
Mroh2b	T	C	15: 4,953,123 (GRCm39)	L619S	probably damaging	Het
Ngef	T	C	1: 87,468,418 (GRCm39)	T114A	probably benign	Het
Nlrp12	T	C	7: 3,289,597 (GRCm39)	D305G	possibly damaging	Het
Nlrp1a	A	T	11: 71,013,944 (GRCm39)	F435L	possibly damaging	Het
Nup188	A	G	2: 30,220,653 (GRCm39)	I909V	possibly damaging	Het
Osbpl3	A	C	6: 50,304,347 (GRCm39)		probably benign	Het
P2ry2	G	T	7: 100,647,321 (GRCm39)	P328H	possibly damaging	Het
Prex2	A	T	1: 11,131,569 (GRCm39)	N46I	probably benign	Het
Prss42	T	C	9: 110,632,243 (GRCm39)	F325L	possibly damaging	Het
Reep5	A	G	18: 34,482,850 (GRCm39)	F120L	probably damaging	Het
Scg3	G	T	9: 75,590,939 (GRCm39)	F23L	probably damaging	Het
Scx	A	G	15: 76,343,295 (GRCm39)	D200G	probably benign	Het
Setd5	C	T	6: 113,098,131 (GRCm39)		probably benign	Het
Tcf4	T	A	18: 69,480,438 (GRCm39)	S23R	probably damaging	Het
Ttc4	A	G	4: 106,533,793 (GRCm39)		probably null	Het
Tyro3	T	A	2: 119,643,071 (GRCm39)	C627S	probably benign	Het
Yipf2	T	C	9: 21,502,764 (GRCm39)	N106S	possibly damaging	Het
Zfp619	T	C	7: 39,186,334 (GRCm39)	L788P	probably benign	Het
Zfp831	G	A	2: 174,485,519 (GRCm39)	V65I	probably benign	Het
Zgpat	T	C	2: 181,020,651 (GRCm39)	S275P	probably benign	Het

Other mutations in Mmd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Mmd2	APN	5	142,560,984 (GRCm39)	missense	probably damaging	1.00
IGL02432:Mmd2	APN	5	142,561,094 (GRCm39)	missense	probably damaging	1.00
IGL02964:Mmd2	APN	5	142,555,232 (GRCm39)	missense	probably damaging	1.00
IGL03333:Mmd2	APN	5	142,553,693 (GRCm39)	splice site	probably benign
R0615:Mmd2	UTSW	5	142,550,668 (GRCm39)	missense	probably benign	0.04
R1717:Mmd2	UTSW	5	142,561,105 (GRCm39)	splice site	probably benign
R2034:Mmd2	UTSW	5	142,560,939 (GRCm39)	critical splice donor site	probably null
R3981:Mmd2	UTSW	5	142,550,554 (GRCm39)	missense	probably damaging	1.00
R3982:Mmd2	UTSW	5	142,550,554 (GRCm39)	missense	probably damaging	1.00
R4501:Mmd2	UTSW	5	142,560,965 (GRCm39)	missense	probably benign	0.00
R6103:Mmd2	UTSW	5	142,553,618 (GRCm39)	critical splice donor site	probably null
R6521:Mmd2	UTSW	5	142,560,585 (GRCm39)	missense	probably damaging	1.00
R7222:Mmd2	UTSW	5	142,553,682 (GRCm39)	missense	probably benign	0.04
R7244:Mmd2	UTSW	5	142,550,587 (GRCm39)	missense	probably damaging	1.00
R7579:Mmd2	UTSW	5	142,594,361 (GRCm39)	start codon destroyed	probably null	0.02
R7997:Mmd2	UTSW	5	142,560,615 (GRCm39)	missense	possibly damaging	0.67
R9188:Mmd2	UTSW	5	142,560,957 (GRCm39)	missense	probably damaging	0.99
R9223:Mmd2	UTSW	5	142,553,666 (GRCm39)	missense	probably damaging	1.00
R9394:Mmd2	UTSW	5	142,555,239 (GRCm39)	missense	probably damaging	1.00
X0024:Mmd2	UTSW	5	142,560,999 (GRCm39)	missense	probably benign	0.05

Posted On

2015-04-16