Mutagenetix > Incidental Mutation

Incidental Mutation 'R1324:Pheta2'

157167

Institutional Source

Beutler Lab

Gene Symbol

Pheta2

Ensembl Gene

ENSMUSG00000049687

Gene Name

PH domain containing endocytic trafficking adaptor 2

Synonyms

Fam109b, Ses2, C920005C14Rik

MMRRC Submission

039390-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R1324 (G1)

Quality Score

156

Status

Not validated

Chromosome

Chromosomal Location

82223148-82229911 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82227699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 73 (T73A)

Ref Sequence

ENSEMBL: ENSMUSP00000124703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023086] [ENSMUST00000023088] [ENSMUST00000050349] [ENSMUST00000159054] [ENSMUST00000160994] [ENSMUST00000161178] [ENSMUST00000161892] [ENSMUST00000230360] [ENSMUST00000229733] [ENSMUST00000230380] [ENSMUST00000229388] [ENSMUST00000229948]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023086

SMART Domains

Protein: ENSMUSP00000023086
Gene: ENSMUSG00000022452

Domain	Start	End	E-Value	Type
Pfam:DDDD	33	107	1.7e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023088

SMART Domains

Protein: ENSMUSP00000023088
Gene: ENSMUSG00000022453

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Melibiase_2	25	394	2.1e-171	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000050349
AA Change: T73A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060598
Gene: ENSMUSG00000049687
AA Change: T73A

Domain	Start	End	E-Value	Type
PH	18	123	1.02e-10	SMART
coiled coil region	128	150	N/A	INTRINSIC
Blast:PH	192	242	1e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083025

Predicted Effect

probably benign
Transcript: ENSMUST00000159054

SMART Domains

Protein: ENSMUSP00000125429
Gene: ENSMUSG00000022452

Domain	Start	End	E-Value	Type
Pfam:DDDD	8	70	1.9e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159942

Predicted Effect

probably benign
Transcript: ENSMUST00000160994

Predicted Effect

probably damaging
Transcript: ENSMUST00000161178
AA Change: T73A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124703
Gene: ENSMUSG00000049687
AA Change: T73A

Domain	Start	End	E-Value	Type
PH	18	123	1.02e-10	SMART
coiled coil region	128	150	N/A	INTRINSIC
Blast:PH	192	242	1e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162705

Predicted Effect

probably benign
Transcript: ENSMUST00000161892

Predicted Effect

probably benign
Transcript: ENSMUST00000230360

Predicted Effect

probably benign
Transcript: ENSMUST00000229733

Predicted Effect

probably benign
Transcript: ENSMUST00000230380

Predicted Effect

probably benign
Transcript: ENSMUST00000229388

Predicted Effect

probably benign
Transcript: ENSMUST00000229948

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230165

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap10	T	A	11: 61,805,847 (GRCm39)		probably null	Het
Col11a1	A	G	3: 113,824,565 (GRCm39)	R6G	unknown	Het
Enam	A	T	5: 88,641,927 (GRCm39)	Y172F	possibly damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Kif21a	A	T	15: 90,832,525 (GRCm39)		probably null	Het
Lmnb2	T	C	10: 80,740,005 (GRCm39)	I330V	possibly damaging	Het
Myom1	T	A	17: 71,359,714 (GRCm39)	I462N	probably damaging	Het
Negr1	C	T	3: 156,774,860 (GRCm39)	A192V	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nrxn3	T	C	12: 89,221,466 (GRCm39)	I42T	possibly damaging	Het
Rnf141	G	A	7: 110,416,050 (GRCm39)	R184*	probably null	Het
Serpinb6a	A	T	13: 34,102,343 (GRCm39)	L273H	probably damaging	Het
Thoc6	G	T	17: 23,896,437 (GRCm39)		probably null	Het
Tmem39a	T	A	16: 38,393,531 (GRCm39)	F77I	possibly damaging	Het
Ttn	T	C	2: 76,611,930 (GRCm39)	D15578G	probably damaging	Het
Usp25	T	A	16: 76,877,275 (GRCm39)	M587K	probably damaging	Het

Other mutations in Pheta2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02178:Pheta2	APN	15	82,227,527 (GRCm39)	missense	possibly damaging	0.76
R0357:Pheta2	UTSW	15	82,227,517 (GRCm39)	missense	probably damaging	1.00
R6218:Pheta2	UTSW	15	82,227,917 (GRCm39)	missense	probably benign	0.01
R8890:Pheta2	UTSW	15	82,227,618 (GRCm39)	missense	probably damaging	1.00
R9199:Pheta2	UTSW	15	82,227,877 (GRCm39)	missense	probably damaging	1.00
R9211:Pheta2	UTSW	15	82,225,227 (GRCm39)	unclassified	probably benign
R9709:Pheta2	UTSW	15	82,227,537 (GRCm39)	missense	probably damaging	1.00
R9709:Pheta2	UTSW	15	82,227,535 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTATGCGCTGAGTGATTCTCCG -3'
(R):5'- AATTGGCAACAGCCCTCTGGGATG -3'

Sequencing Primer
(F):5'- TGAGTGATTCTCCGGCAGAC -3'
(R):5'- TCTGGGATGCACAGCGATG -3'

Posted On

2014-02-18