Mutagenetix > Incidental Mutation

Incidental Mutation 'R8890:Pheta2'

677651

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

068694-MU

Accession Numbers

Essential gene?

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

Stock #

R8890 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82223148-82229911 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82227618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 46 (V46F)

Ref Sequence

ENSEMBL: ENSMUSP00000060598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023086] [ENSMUST00000023088] [ENSMUST00000050349] [ENSMUST00000159054] [ENSMUST00000160994] [ENSMUST00000161178] [ENSMUST00000161892] [ENSMUST00000229388] [ENSMUST00000229733] [ENSMUST00000229948] [ENSMUST00000230269] [ENSMUST00000230360] [ENSMUST00000230380]

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: V46F

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

SMART Domains

Protein: ENSMUSP00000060598
Gene: ENSMUSG00000049687
AA Change: V46F

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

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

probably benign
Transcript: ENSMUST00000160994

Predicted Effect

probably damaging
Transcript: ENSMUST00000161178
AA Change: V46F

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

SMART Domains

Protein: ENSMUSP00000124703
Gene: ENSMUSG00000049687
AA Change: V46F

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

probably benign
Transcript: ENSMUST00000161892

Predicted Effect

probably benign
Transcript: ENSMUST00000229388

Predicted Effect

probably benign
Transcript: ENSMUST00000229733

Predicted Effect

probably benign
Transcript: ENSMUST00000229948

Predicted Effect

probably benign
Transcript: ENSMUST00000230269

Predicted Effect

probably benign
Transcript: ENSMUST00000230360

Predicted Effect

probably benign
Transcript: ENSMUST00000230380

Meta Mutation Damage Score

0.6137

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	A	X: 69,437,994 (GRCm39)	R100W	possibly damaging	Het
Acrv1	A	T	9: 36,604,608 (GRCm39)	M1L	probably benign	Het
Adam23	G	A	1: 63,624,524 (GRCm39)	G784D	possibly damaging	Het
Astl	A	T	2: 127,198,479 (GRCm39)	M365L	probably benign	Het
C1ql3	T	A	2: 13,015,184 (GRCm39)	T159S		Het
Ccser2	T	G	14: 36,601,352 (GRCm39)	D344A	probably damaging	Het
Cox11	A	C	11: 90,534,599 (GRCm39)	I214L	probably damaging	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Ctsq	T	A	13: 61,185,502 (GRCm39)	Y213F	probably damaging	Het
Cyp2j5	T	A	4: 96,522,555 (GRCm39)	I340F	probably damaging	Het
Efcab6	A	G	15: 83,829,349 (GRCm39)	F664L	probably damaging	Het
Eif3j2	A	G	18: 43,610,276 (GRCm39)	L179P	probably benign	Het
Fhad1	A	T	4: 141,656,902 (GRCm39)	M84K	probably benign	Het
Gabbr1	T	C	17: 37,358,436 (GRCm39)	V58A	probably benign	Het
Gabra1	T	A	11: 42,024,553 (GRCm39)	Y374F	probably benign	Het
Glt28d2	A	T	3: 85,779,359 (GRCm39)	V38D	possibly damaging	Het
Grid2	A	T	6: 63,233,923 (GRCm39)	H28L	probably benign	Het
Hat1	G	A	2: 71,269,137 (GRCm39)	R355K	probably damaging	Het
Hivep3	T	C	4: 119,953,657 (GRCm39)	Y658H	possibly damaging	Het
Hsh2d	T	C	8: 72,951,690 (GRCm39)	F108S	probably damaging	Het
Il17rc	G	T	6: 113,456,031 (GRCm39)	C292F	probably damaging	Het
Il31ra	T	C	13: 112,660,861 (GRCm39)	D576G	possibly damaging	Het
Iqsec3	T	C	6: 121,389,515 (GRCm39)	D652G	probably damaging	Het
Kdm5a	T	A	6: 120,366,624 (GRCm39)	S420R	probably damaging	Het
Klhdc7b	A	G	15: 89,272,888 (GRCm39)	T599A	probably benign	Het
Lrrc8c	A	T	5: 105,754,954 (GRCm39)	E243V	probably damaging	Het
Mecom	A	G	3: 30,006,882 (GRCm39)	S714P	probably damaging	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mipep	G	T	14: 61,109,506 (GRCm39)	A628S	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mterf3	C	T	13: 67,064,676 (GRCm39)		probably null	Het
Myh15	C	A	16: 48,959,130 (GRCm39)	L1001I	probably damaging	Het
Myom3	G	A	4: 135,541,565 (GRCm39)	M1385I	probably benign	Het
Nbea	T	C	3: 55,926,784 (GRCm39)		probably benign	Het
Nphs1	C	T	7: 30,162,080 (GRCm39)	R270W	probably damaging	Het
Nwd1	T	A	8: 73,438,484 (GRCm39)	S1552T	probably benign	Het
Or10ag60	A	T	2: 87,438,412 (GRCm39)	I227F	probably damaging	Het
Or10j5	G	A	1: 172,785,045 (GRCm39)	V228M	probably benign	Het
Or52ae9	G	T	7: 103,389,675 (GRCm39)	F257L	probably damaging	Het
Or52r1	A	T	7: 102,536,699 (GRCm39)	Y220*	probably null	Het
Pcdh7	A	T	5: 57,876,717 (GRCm39)	I91F	probably damaging	Het
Piezo1	T	C	8: 123,216,330 (GRCm39)	R1394G		Het
Pramel28	G	T	4: 143,691,494 (GRCm39)	Q410K	probably benign	Het
Psmd1	G	A	1: 86,012,914 (GRCm39)	R361Q	probably damaging	Het
Ralb	G	A	1: 119,411,246 (GRCm39)	T31M	probably damaging	Het
Rassf4	T	A	6: 116,617,305 (GRCm39)	K233N	probably damaging	Het
Rif1	T	C	2: 51,988,875 (GRCm39)	F756S	probably damaging	Het
Rpgrip1	G	A	14: 52,382,501 (GRCm39)	D556N	possibly damaging	Het
Scai	T	C	2: 39,040,400 (GRCm39)		probably benign	Het
Scfd1	A	G	12: 51,474,678 (GRCm39)	T478A	probably benign	Het
Spag17	T	A	3: 99,911,994 (GRCm39)	I288N	possibly damaging	Het
Sult1e1	C	T	5: 87,727,719 (GRCm39)	V188I	probably benign	Het
Tmco1	A	G	1: 167,143,814 (GRCm39)	R82G		Het
Tmem109	T	C	19: 10,849,235 (GRCm39)	S207G	probably benign	Het
Vmn2r115	A	G	17: 23,578,497 (GRCm39)	T657A	probably damaging	Het
Whamm	A	G	7: 81,243,640 (GRCm39)	T621A	probably benign	Het
Zbtb40	A	G	4: 136,725,897 (GRCm39)	L554P	probably damaging	Het
Zfp131	A	T	13: 120,244,338 (GRCm39)	M114K	probably damaging	Het
Zfp532	C	T	18: 65,757,404 (GRCm39)	P446S	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
R1324:Pheta2	UTSW	15	82,227,699 (GRCm39)	missense	probably damaging	1.00
R6218:Pheta2	UTSW	15	82,227,917 (GRCm39)	missense	probably benign	0.01
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'- ACATGGTCTGTAGGAGCCAC -3'
(R):5'- ACAAGTCGCATGTAGCCAAAG -3'

Sequencing Primer
(F):5'- TCTGTAGGAGCCACAGGACTG -3'
(R):5'- GACAGTGCCTTCACCCATG -3'

Posted On

2021-08-02