Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03333:Mmd2'

416944

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 #

IGL03333

Quality Score

Status

Chromosome

Chromosomal Location

142549229-142594886 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 142553693 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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,610,932 (GRCm39)	M893V	probably benign	Het
Ccdc185	C	A	1: 182,576,398 (GRCm39)	G97V	probably damaging	Het
Cep170	T	C	1: 176,597,092 (GRCm39)	T422A	possibly damaging	Het
Ckap2l	A	C	2: 129,138,228 (GRCm39)		probably null	Het
Cpa3	A	G	3: 20,269,992 (GRCm39)	Y411H	possibly damaging	Het
Dnah2	C	A	11: 69,385,949 (GRCm39)	R1011L	probably damaging	Het
Efnb2	T	A	8: 8,689,275 (GRCm39)	K30*	probably null	Het
Ep400	C	T	5: 110,851,432 (GRCm39)	R1350H	unknown	Het
Epha6	T	C	16: 59,503,051 (GRCm39)	D952G	probably damaging	Het
Exoc7	C	A	11: 116,191,987 (GRCm39)	V195L	probably benign	Het
Fbxw8	T	C	5: 118,233,660 (GRCm39)	M324V	possibly damaging	Het
Fchsd2	T	C	7: 100,847,703 (GRCm39)	S198P	probably damaging	Het
Gcdh	T	C	8: 85,617,700 (GRCm39)	T202A	probably benign	Het
Gm6619	G	A	6: 131,467,471 (GRCm39)		probably benign	Het
Itpr1	A	T	6: 108,357,871 (GRCm39)		probably benign	Het
Kif2c	A	C	4: 117,037,833 (GRCm39)	V31G	possibly damaging	Het
Kpna7	T	C	5: 144,942,765 (GRCm39)	I74V	possibly damaging	Het
Lvrn	G	A	18: 46,997,731 (GRCm39)		probably benign	Het
Man2b2	T	A	5: 36,973,483 (GRCm39)	I499F	probably damaging	Het
Or11h7	C	T	14: 50,890,855 (GRCm39)	Q54*	probably null	Het
Or2r11	T	C	6: 42,437,773 (GRCm39)	Y60C	probably damaging	Het
Or6b1	T	A	6: 42,815,637 (GRCm39)	I274N	possibly damaging	Het
Or8g2b	T	A	9: 39,751,308 (GRCm39)	Y193N	probably damaging	Het
Parp14	A	G	16: 35,661,800 (GRCm39)	S1412P	probably benign	Het
Prr30	A	T	14: 101,435,827 (GRCm39)	V245E	possibly damaging	Het
Ros1	T	A	10: 52,031,267 (GRCm39)	D458V	probably damaging	Het
Sec22c	A	G	9: 121,517,284 (GRCm39)	L138P	probably damaging	Het
Sema6d	C	A	2: 124,506,290 (GRCm39)	H699Q	possibly damaging	Het
Spata17	A	T	1: 186,872,667 (GRCm39)	M1K	probably null	Het
Tpr	T	A	1: 150,302,718 (GRCm39)	D1331E	probably benign	Het
Ttc4	A	G	4: 106,533,828 (GRCm39)	Y120H	probably benign	Het
Tubgcp4	A	G	2: 121,026,654 (GRCm39)		probably null	Het
Usp19	T	A	9: 108,371,348 (GRCm39)	M285K	probably benign	Het
Vmn1r222	A	T	13: 23,417,177 (GRCm39)	F12Y	probably benign	Het
Vmn2r72	T	C	7: 85,400,075 (GRCm39)	K325E	probably benign	Het
Vps33b	T	C	7: 79,923,973 (GRCm39)		probably benign	Het
Zfp784	C	T	7: 5,039,351 (GRCm39)		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
IGL02221:Mmd2	APN	5	142,555,212 (GRCm39)	splice site	probably benign
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
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

2016-08-02