Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00769:Minar2'

8507

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Minar2

Ensembl Gene

ENSMUSG00000050875

Gene Name

membrane integral NOTCH2 associated receptor 2

Synonyms

A730017C20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00769

Quality Score

Status

Chromosome

Chromosomal Location

59195320-59210034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59205349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 88 (S88P)

Ref Sequence

ENSEMBL: ENSMUSP00000125952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058633] [ENSMUST00000117064] [ENSMUST00000118510] [ENSMUST00000165666] [ENSMUST00000175830]

AlphaFold

Q8C4X7

Predicted Effect

probably damaging
Transcript: ENSMUST00000058633
AA Change: S46P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056379
Gene: ENSMUSG00000050875
AA Change: S46P

Domain	Start	End	E-Value	Type
Pfam:UPF0258	4	151	7.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117064

Predicted Effect

probably damaging
Transcript: ENSMUST00000118510
AA Change: S46P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113023
Gene: ENSMUSG00000050875
AA Change: S46P

Domain	Start	End	E-Value	Type
Pfam:UPF0258	4	151	7.2e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154125

Predicted Effect

probably damaging
Transcript: ENSMUST00000165666
AA Change: S88P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125952
Gene: ENSMUSG00000050875
AA Change: S88P

Domain	Start	End	E-Value	Type
Pfam:UPF0258	51	192	3.4e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000175830
AA Change: S46P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135330
Gene: ENSMUSG00000050875
AA Change: S46P

Domain	Start	End	E-Value	Type
Pfam:UPF0258	4	150	6.2e-41	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000175897
AA Change: S78P

SMART Domains

Protein: ENSMUSP00000135020
Gene: ENSMUSG00000050875
AA Change: S78P

Domain	Start	End	E-Value	Type
Pfam:UPF0258	25	146	4e-30	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,839,039 (GRCm39)	V516A	possibly damaging	Het
Ambp	G	A	4: 63,062,402 (GRCm39)	T279I	probably damaging	Het
Ankrd28	A	G	14: 31,465,322 (GRCm39)	V285A	possibly damaging	Het
Arfgef3	A	G	10: 18,536,352 (GRCm39)	S220P	probably benign	Het
Atp9b	G	T	18: 80,956,068 (GRCm39)	H129N	probably benign	Het
Cdh10	C	A	15: 18,985,185 (GRCm39)	P283Q	possibly damaging	Het
Cep295	A	G	9: 15,237,440 (GRCm39)	S1941P	probably damaging	Het
Dmbt1	T	A	7: 130,684,230 (GRCm39)	S575R	probably damaging	Het
Dock11	A	G	X: 35,267,715 (GRCm39)	N796S	possibly damaging	Het
Enam	A	T	5: 88,649,343 (GRCm39)	Y284F	possibly damaging	Het
F8	A	T	X: 74,377,786 (GRCm39)		probably benign	Het
Fbxo42	C	T	4: 140,907,760 (GRCm39)	T140M	probably damaging	Het
Galnt13	G	A	2: 54,770,116 (GRCm39)	E303K	probably benign	Het
Mrgprb4	T	A	7: 47,848,649 (GRCm39)	D93V	probably benign	Het
Msl3	T	A	X: 167,451,744 (GRCm39)	E215V	probably damaging	Het
Pglyrp3	A	T	3: 91,921,929 (GRCm39)		probably benign	Het
Prdx1	G	A	4: 116,550,162 (GRCm39)	D115N	probably benign	Het
Psd3	A	T	8: 68,361,331 (GRCm39)		probably benign	Het
Rundc1	A	G	11: 101,325,100 (GRCm39)	D602G	probably damaging	Het
Slc4a1ap	T	G	5: 31,711,121 (GRCm39)	Y742D	probably damaging	Het
Spmap1	A	G	11: 97,662,407 (GRCm39)	F155S	probably damaging	Het
Ugt1a6a	C	T	1: 88,066,772 (GRCm39)	P193S	probably damaging	Het
Vmn2r96	G	A	17: 18,804,081 (GRCm39)	V252M	probably benign	Het
Wdr53	G	A	16: 32,075,315 (GRCm39)	W173*	probably null	Het

Other mutations in Minar2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Minar2	APN	18	59,205,380 (GRCm39)	missense	probably damaging	0.99
IGL01621:Minar2	APN	18	59,195,458 (GRCm39)	start codon destroyed	probably null	0.27
IGL02546:Minar2	APN	18	59,205,347 (GRCm39)	missense	probably damaging	0.98
R0200:Minar2	UTSW	18	59,195,531 (GRCm39)	splice site	probably null
R0390:Minar2	UTSW	18	59,208,760 (GRCm39)	missense	probably damaging	0.98
R0470:Minar2	UTSW	18	59,208,711 (GRCm39)	missense	probably damaging	1.00
R0608:Minar2	UTSW	18	59,195,531 (GRCm39)	splice site	probably null
R1980:Minar2	UTSW	18	59,208,739 (GRCm39)	missense	probably damaging	0.96
R4916:Minar2	UTSW	18	59,205,277 (GRCm39)	missense	probably damaging	0.98
R6285:Minar2	UTSW	18	59,205,296 (GRCm39)	missense	probably benign	0.02
R7252:Minar2	UTSW	18	59,199,980 (GRCm39)	critical splice acceptor site	probably null
R8771:Minar2	UTSW	18	59,200,052 (GRCm39)	intron	probably benign

Posted On

2012-12-06