Mutagenetix > Incidental Mutation

Incidental Mutation 'R8166:Entrep2'

633777

Institutional Source

Beutler Lab

Gene Symbol

Entrep2

Ensembl Gene

ENSMUSG00000030518

Gene Name

endosomal transmembrane epsin interactor 2

Synonyms

Fam189a1, 5730507A09Rik

MMRRC Submission

067592-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64405839-64806276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64409153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 414 (S414P)

Ref Sequence

ENSEMBL: ENSMUSP00000113680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119118]

AlphaFold

Q6A044

Predicted Effect

probably benign
Transcript: ENSMUST00000119118
AA Change: S414P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000113680
Gene: ENSMUSG00000030518
AA Change: S414P

Domain	Start	End	E-Value	Type
Pfam:CD20	34	199	4.9e-33	PFAM
low complexity region	243	259	N/A	INTRINSIC
low complexity region	356	374	N/A	INTRINSIC
low complexity region	378	392	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,144,232 (GRCm39)	V569A	probably benign	Het
Actrt3	A	G	3: 30,652,674 (GRCm39)	F140S	probably damaging	Het
Alx1	T	A	10: 102,845,224 (GRCm39)	Q269L	probably damaging	Het
Amph	G	T	13: 19,132,660 (GRCm39)	A20S	possibly damaging	Het
Aqr	T	A	2: 113,943,806 (GRCm39)	M1111L	possibly damaging	Het
Atp10a	A	T	7: 58,457,270 (GRCm39)	H923L	possibly damaging	Het
Bmpr1a	A	C	14: 34,147,026 (GRCm39)	W249G	probably damaging	Het
Bmpr2	A	T	1: 59,906,740 (GRCm39)	N611I	probably damaging	Het
Cadm2	A	G	16: 66,750,197 (GRCm39)	L9S	probably benign	Het
Ccdc102a	C	A	8: 95,639,944 (GRCm39)	A117S	possibly damaging	Het
Clec4f	G	T	6: 83,629,624 (GRCm39)	S311R	possibly damaging	Het
Dchs2	T	A	3: 83,261,640 (GRCm39)	I2636N	probably benign	Het
Dync2h1	T	A	9: 7,129,089 (GRCm39)	K1809*	probably null	Het
Efs	C	T	14: 55,158,077 (GRCm39)	R108Q	probably damaging	Het
Eif5b	A	G	1: 38,087,901 (GRCm39)	T966A	probably benign	Het
Flnc	A	C	6: 29,433,731 (GRCm39)	N92H	probably damaging	Het
Gm13030	A	T	4: 138,598,533 (GRCm39)	L130H	unknown	Het
Gm17190	A	C	13: 96,219,142 (GRCm39)	R159S	unknown	Het
Hipk1	T	C	3: 103,685,489 (GRCm39)	Y42C	possibly damaging	Het
Ifi207	C	A	1: 173,557,166 (GRCm39)	C524F	possibly damaging	Het
Ifi207	A	C	1: 173,557,504 (GRCm39)	S411R	probably benign	Het
Ighv8-9	G	T	12: 115,432,212 (GRCm39)	P33H	probably damaging	Het
Igkv8-34	A	G	6: 70,021,619 (GRCm39)	V15A	probably benign	Het
Irx5	T	A	8: 93,086,712 (GRCm39)		probably null	Het
Kcnh4	A	G	11: 100,632,712 (GRCm39)	L925P	probably benign	Het
Kctd9	G	A	14: 67,967,141 (GRCm39)	R153H	possibly damaging	Het
Lats1	A	G	10: 7,577,880 (GRCm39)	T335A	probably benign	Het
Med20	A	G	17: 47,924,027 (GRCm39)	T52A	probably benign	Het
Msantd4	A	T	9: 4,384,095 (GRCm39)	T139S	possibly damaging	Het
Mtif3	T	C	5: 146,896,052 (GRCm39)	T12A	probably benign	Het
N4bp2	T	G	5: 65,977,655 (GRCm39)	S1518A	probably benign	Het
Naip2	T	C	13: 100,298,515 (GRCm39)	N507S	probably benign	Het
Nasp	A	T	4: 116,468,112 (GRCm39)	V291E	probably benign	Het
Ncapg2	T	G	12: 116,376,036 (GRCm39)	D40E	probably benign	Het
Nipsnap1	A	G	11: 4,834,057 (GRCm39)	D103G	probably benign	Het
Nsmce1	A	G	7: 125,070,319 (GRCm39)	L164P	probably damaging	Het
Ogdhl	G	A	14: 32,059,763 (GRCm39)	V426I	probably damaging	Het
Or5p66	A	G	7: 107,885,904 (GRCm39)	V143A	probably benign	Het
P3h2	T	C	16: 25,811,572 (GRCm39)	E217G	possibly damaging	Het
Pnpt1	A	G	11: 29,106,875 (GRCm39)	I649V	probably benign	Het
Prxl2c	A	T	13: 64,456,921 (GRCm39)	Y101N		Het
Pum2	G	A	12: 8,771,739 (GRCm39)	A361T	possibly damaging	Het
Rictor	G	A	15: 6,798,815 (GRCm39)		probably null	Het
Rps6ka4	G	A	19: 6,814,811 (GRCm39)	R264W	possibly damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sall1	T	C	8: 89,755,146 (GRCm39)	T1278A	probably benign	Het
Scg2	T	A	1: 79,413,300 (GRCm39)	K434N	possibly damaging	Het
Suclg1	T	A	6: 73,237,555 (GRCm39)	V100D	probably damaging	Het
Tarbp1	T	G	8: 127,153,867 (GRCm39)	E1528D	possibly damaging	Het
Trgc1	A	G	13: 19,400,772 (GRCm39)	N167S		Het
Tshz2	C	A	2: 169,725,575 (GRCm39)	T57K	probably benign	Het
Ttc22	G	A	4: 106,491,673 (GRCm39)	R229H	probably damaging	Het
Vcan	A	G	13: 89,840,855 (GRCm39)	V1563A	probably benign	Het
Vmn1r68	A	T	7: 10,261,888 (GRCm39)	M70K	probably benign	Het
Vmn2r105	A	T	17: 20,428,904 (GRCm39)	I724N	probably benign	Het
Vmn2r96	T	C	17: 18,802,744 (GRCm39)	L26P	probably damaging	Het
Wdr72	G	A	9: 74,120,610 (GRCm39)	S955N	probably benign	Het
Zfp518b	C	A	5: 38,831,838 (GRCm39)	A56S	probably damaging	Het

Other mutations in Entrep2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02053:Entrep2	APN	7	64,469,590 (GRCm39)	missense	probably damaging	1.00
IGL02567:Entrep2	APN	7	64,436,479 (GRCm39)	missense	possibly damaging	0.95
thick	UTSW	7	64,409,116 (GRCm39)	nonsense	probably null
R0612:Entrep2	UTSW	7	64,411,549 (GRCm39)	missense	probably benign	0.17
R0720:Entrep2	UTSW	7	64,469,658 (GRCm39)	splice site	probably benign
R1368:Entrep2	UTSW	7	64,469,625 (GRCm39)	missense	probably damaging	1.00
R1716:Entrep2	UTSW	7	64,426,633 (GRCm39)	splice site	probably null
R1840:Entrep2	UTSW	7	64,408,943 (GRCm39)	missense	probably benign	0.37
R1972:Entrep2	UTSW	7	64,425,516 (GRCm39)	missense	possibly damaging	0.91
R1973:Entrep2	UTSW	7	64,425,516 (GRCm39)	missense	possibly damaging	0.91
R2201:Entrep2	UTSW	7	64,409,141 (GRCm39)	missense	probably benign	0.01
R2230:Entrep2	UTSW	7	64,408,970 (GRCm39)	missense	probably damaging	0.97
R2232:Entrep2	UTSW	7	64,408,970 (GRCm39)	missense	probably damaging	0.97
R2340:Entrep2	UTSW	7	64,425,565 (GRCm39)	missense	probably benign	0.00
R4809:Entrep2	UTSW	7	64,426,488 (GRCm39)	missense	probably damaging	1.00
R4923:Entrep2	UTSW	7	64,417,439 (GRCm39)	missense	probably benign	0.00
R4928:Entrep2	UTSW	7	64,409,116 (GRCm39)	nonsense	probably null
R5556:Entrep2	UTSW	7	64,505,957 (GRCm39)	missense	probably damaging	1.00
R5852:Entrep2	UTSW	7	64,425,579 (GRCm39)	missense	probably damaging	1.00
R6169:Entrep2	UTSW	7	64,409,147 (GRCm39)	missense	probably benign	0.00
R7029:Entrep2	UTSW	7	64,409,075 (GRCm39)	missense	probably benign	0.00
R7455:Entrep2	UTSW	7	64,409,161 (GRCm39)	missense	probably benign	0.00
R7512:Entrep2	UTSW	7	64,805,918 (GRCm39)	missense	probably benign	0.23
R7896:Entrep2	UTSW	7	64,426,557 (GRCm39)	missense	probably damaging	1.00
R9729:Entrep2	UTSW	7	64,806,056 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACATGTCGCACCTCTGTAG -3'
(R):5'- AAATTCACGCCAGGCTGAC -3'

Sequencing Primer
(F):5'- GTGCGTGTTCCAAAAACTTAGCC -3'
(R):5'- GCTGACAGGAAATTAAGTGACCC -3'

Posted On

2020-07-13