Mutagenetix > Incidental Mutation

Incidental Mutation 'R6103:Mmd2'

485372

Institutional Source

Beutler Lab

Gene Symbol

Mmd2

Ensembl Gene

ENSMUSG00000039533

Gene Name

monocyte to macrophage differentiation-associated 2

Synonyms

MMRRC Submission

044253-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6103 (G1)

Quality Score

151.008

Status

Validated

Chromosome

Chromosomal Location

142549229-142594886 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 142553618 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 null
Transcript: ENSMUST00000037048

SMART Domains

Protein: ENSMUSP00000039357
Gene: ENSMUSG00000039533

Domain	Start	End	E-Value	Type
Pfam:HlyIII	33	228	5.2e-21	PFAM

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,768,445 (GRCm39)	S926P	possibly damaging	Het
Acacb	T	A	5: 114,383,942 (GRCm39)	M2157K	probably damaging	Het
Aco2	T	C	15: 81,797,452 (GRCm39)	V636A	probably benign	Het
Adgrf3	T	C	5: 30,401,265 (GRCm39)	Y51C	probably damaging	Het
Adprhl1	T	C	8: 13,272,055 (GRCm39)	T1568A	possibly damaging	Het
Ank1	T	A	8: 23,603,999 (GRCm39)	S937T	probably damaging	Het
Ankrd50	T	C	3: 38,508,578 (GRCm39)	E340G	probably damaging	Het
Avpr1b	C	T	1: 131,537,155 (GRCm39)	P90S	probably damaging	Het
Cacna2d3	T	C	14: 29,118,446 (GRCm39)	H159R	probably damaging	Het
Carmil3	A	T	14: 55,742,884 (GRCm39)	T1185S	probably benign	Het
Casp2	A	T	6: 42,256,814 (GRCm39)	R357S	probably damaging	Het
Ccdc34	A	G	2: 109,848,352 (GRCm39)	D47G	probably benign	Het
Cd109	A	G	9: 78,605,596 (GRCm39)		probably null	Het
Cd209d	T	C	8: 3,928,304 (GRCm39)	Y27C	probably damaging	Het
Cep350	T	A	1: 155,800,322 (GRCm39)	D1176V	probably benign	Het
Cpd	A	T	11: 76,690,625 (GRCm39)	S844T	probably benign	Het
Cyp4x1	A	G	4: 114,968,864 (GRCm39)	L380P	probably damaging	Het
Dscam	A	G	16: 96,626,781 (GRCm39)	V376A	probably benign	Het
Enam	T	A	5: 88,650,187 (GRCm39)	N565K	probably damaging	Het
Fam110c	G	A	12: 31,124,794 (GRCm39)	W252*	probably null	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Fgb	T	C	3: 82,951,170 (GRCm39)	D281G	probably benign	Het
Frem2	T	A	3: 53,457,209 (GRCm39)	T2048S	probably benign	Het
Fut8	A	T	12: 77,378,721 (GRCm39)		probably benign	Het
Glmp	T	C	3: 88,235,338 (GRCm39)	S238P	probably benign	Het
Gm35315	T	A	5: 110,226,137 (GRCm39)	Y434F	probably damaging	Het
Gnpnat1	A	G	14: 45,620,856 (GRCm39)	F71S	probably damaging	Het
Gpnmb	A	G	6: 49,019,820 (GRCm39)	R64G	possibly damaging	Het
Grxcr1	T	C	5: 68,323,547 (GRCm39)	F275S	possibly damaging	Het
Ift140	T	A	17: 25,312,100 (GRCm39)	C1314S	probably damaging	Het
Kif9	T	C	9: 110,318,917 (GRCm39)	I127T	possibly damaging	Het
Ms4a3	A	T	19: 11,616,582 (GRCm39)	V20D	possibly damaging	Het
Mtres1	A	T	10: 43,408,916 (GRCm39)	Y76N	probably benign	Het
Myh7b	A	G	2: 155,460,663 (GRCm39)	E272G	probably damaging	Het
Naaladl1	G	A	19: 6,158,743 (GRCm39)	G292S	probably damaging	Het
Notch2	T	A	3: 98,043,059 (GRCm39)	Y1475N	possibly damaging	Het
Obp2a	G	A	2: 25,590,163 (GRCm39)	E21K	probably damaging	Het
Or5ar1	A	G	2: 85,671,776 (GRCm39)	Y120H	probably damaging	Het
Osbpl10	T	A	9: 114,890,940 (GRCm39)	Y109*	probably null	Het
Plcd1	A	T	9: 118,901,109 (GRCm39)	W749R	probably benign	Het
Ptpro	A	G	6: 137,377,704 (GRCm39)	E718G	possibly damaging	Het
Rbm4	C	T	19: 4,837,947 (GRCm39)	R295H	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Setdb2	T	C	14: 59,646,981 (GRCm39)		probably null	Het
Slc25a18	C	A	6: 120,766,399 (GRCm39)	L131I	probably damaging	Het
Slc4a10	A	G	2: 62,064,809 (GRCm39)	H221R	probably damaging	Het
Tbc1d32	A	T	10: 56,026,979 (GRCm39)	W757R	probably damaging	Het
Tmem183a	C	A	1: 134,275,884 (GRCm39)	V331L	probably benign	Het
Try10	C	A	6: 41,333,484 (GRCm39)	H76Q	probably damaging	Het
Ttn	T	A	2: 76,748,599 (GRCm39)	H4150L	probably benign	Het
Vmn2r52	G	A	7: 9,905,327 (GRCm39)	P171S	probably benign	Het
Vmn2r88	A	G	14: 51,652,826 (GRCm39)	T450A	probably benign	Het
Yipf7	A	T	5: 69,698,405 (GRCm39)	V34D	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zg16	A	G	7: 126,649,748 (GRCm39)	V71A	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTCAGAGTTAGGCACAAGGG -3'
(R):5'- AGTCACGCTGAGAAGATCCG -3'

Sequencing Primer
(F):5'- GGATATTCCATATCTCCGGTGAGATC -3'
(R):5'- AAGATCCGCTCTTCTTGCTGTG -3'

Posted On

2017-08-16