Mutagenetix > Incidental Mutation

Incidental Mutation 'R7997:Mmd2'

616129

Institutional Source

Beutler Lab

Gene Symbol

Mmd2

Ensembl Gene

ENSMUSG00000039533

Gene Name

monocyte to macrophage differentiation-associated 2

Synonyms

MMRRC Submission

046037-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7997 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142549229-142594886 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142560615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 102 (H102L)

Ref Sequence

ENSEMBL: ENSMUSP00000039357 (fasta)

Gene Model

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

AlphaFold

Q8R189

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037048
AA Change: H102L

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000039357
Gene: ENSMUSG00000039533
AA Change: H102L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	G	A	14: 41,766,209 (GRCm39)		probably benign	Het
Abra	A	C	15: 41,729,593 (GRCm39)	M269R	probably damaging	Het
Atp6v0e2	A	G	6: 48,514,718 (GRCm39)	I12V	probably benign	Het
Bicral	T	A	17: 47,112,534 (GRCm39)	I889F	probably benign	Het
Cabin1	A	G	10: 75,569,609 (GRCm39)	V826A	probably benign	Het
Casq2	A	T	3: 101,994,158 (GRCm39)	K68N	probably damaging	Het
Cdh23	C	A	10: 60,432,518 (GRCm39)	Q135H	possibly damaging	Het
Chn2	A	T	6: 54,267,270 (GRCm39)	H253L	probably damaging	Het
Dnajc22	A	G	15: 98,999,514 (GRCm39)	E233G	probably damaging	Het
Fbxo6	A	G	4: 148,231,852 (GRCm39)	S96P	possibly damaging	Het
Gimap6	G	T	6: 48,679,249 (GRCm39)	N262K	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Grid2	C	A	6: 64,297,120 (GRCm39)	H494Q	possibly damaging	Het
Hmgcl	T	A	4: 135,687,320 (GRCm39)	Y198*	probably null	Het
Hmgxb4	A	T	8: 75,727,956 (GRCm39)	Y313F	probably damaging	Het
Hr	G	A	14: 70,801,043 (GRCm39)	W676*	probably null	Het
Insc	A	G	7: 114,444,372 (GRCm39)	D453G	probably damaging	Het
Iqub	T	C	6: 24,501,413 (GRCm39)	N179S	possibly damaging	Het
Kdm3b	T	A	18: 34,941,336 (GRCm39)	S276T	probably benign	Het
Kmt2a	C	A	9: 44,745,220 (GRCm39)	K1597N	unknown	Het
Kntc1	T	C	5: 123,916,117 (GRCm39)	V682A	probably damaging	Het
Mcm9	T	A	10: 53,473,502 (GRCm39)		probably benign	Het
Med30	T	C	15: 52,593,467 (GRCm39)	L149P	probably damaging	Het
Mtres1	T	C	10: 43,401,356 (GRCm39)	T198A	probably benign	Het
Mybph	G	A	1: 134,122,405 (GRCm39)	R150H	probably damaging	Het
Ndufaf4	A	G	4: 24,901,919 (GRCm39)	T156A	probably benign	Het
Or2g1	T	A	17: 38,107,053 (GRCm39)	C239*	probably null	Het
Pecr	T	A	1: 72,315,475 (GRCm39)	K92*	probably null	Het
Pithd1	T	C	4: 135,703,723 (GRCm39)	T207A	probably benign	Het
Prdm10	T	A	9: 31,264,721 (GRCm39)	C719S	probably damaging	Het
Rasef	C	A	4: 73,658,799 (GRCm39)	W316L	possibly damaging	Het
Robo1	T	C	16: 72,701,581 (GRCm39)	V149A	probably damaging	Het
Ryr1	A	T	7: 28,702,968 (GRCm39)	V5034D	unknown	Het
Slc26a10	A	G	10: 127,009,178 (GRCm39)	V661A	possibly damaging	Het
Slc30a8	T	G	15: 52,189,081 (GRCm39)	I232S	possibly damaging	Het
Smg1	A	G	7: 117,772,364 (GRCm39)	F1464L	unknown	Het
Smg1	A	C	7: 117,772,365 (GRCm39)	H1463Q	unknown	Het
Spata1	G	A	3: 146,182,035 (GRCm39)	A245V	probably benign	Het
St8sia1	C	T	6: 142,909,376 (GRCm39)	C40Y	probably damaging	Het
Strn	T	C	17: 78,991,672 (GRCm39)	T216A	probably benign	Het
Tecpr2	G	A	12: 110,900,037 (GRCm39)	E802K	probably benign	Het
Tenm4	A	G	7: 96,523,512 (GRCm39)	I1685V	probably benign	Het
Tyw5	T	C	1: 57,427,683 (GRCm39)	D307G	probably benign	Het
Usp17le	A	T	7: 104,418,046 (GRCm39)	D365E	possibly damaging	Het
Vmn1r13	T	G	6: 57,187,329 (GRCm39)	S163A	possibly damaging	Het
Vmn1r75	A	T	7: 11,614,600 (GRCm39)	T111S	probably damaging	Het
Wdr95	G	T	5: 149,502,622 (GRCm39)		probably null	Het
Zfp292	G	A	4: 34,808,688 (GRCm39)	P1457L	probably damaging	Het
Zfp606	T	A	7: 12,223,519 (GRCm39)	V10E	probably damaging	Het
Zfp606	T	C	7: 12,228,134 (GRCm39)	S752P	possibly damaging	Het
Zscan29	T	G	2: 120,991,221 (GRCm39)	S856R	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
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
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'- AGGATACACTAGGTAATTCTTGGC -3'
(R):5'- GAAACCTTGCTCTGGTGGAG -3'

Sequencing Primer
(F):5'- TAAGAGTAAGGACGAGCGTGTTTTC -3'
(R):5'- TCTGGTGGAGAGACAGGCTG -3'

Posted On

2020-01-23