Mutagenetix > Incidental Mutation

Incidental Mutation 'R2232:Entrep2'

240105

Institutional Source

Beutler Lab

Gene Symbol

Entrep2

Ensembl Gene

ENSMUSG00000030518

Gene Name

endosomal transmembrane epsin interactor 2

Synonyms

Fam189a1, 5730507A09Rik

MMRRC Submission

040233-MU

Accession Numbers

Essential gene?

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

Stock #

R2232 (G1)

Quality Score

185

Status

Not validated

Chromosome

Chromosomal Location

64405839-64806276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64408970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 475 (H475Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113680 (fasta)

Gene Model

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

AlphaFold

Q6A044

Predicted Effect

probably damaging
Transcript: ENSMUST00000119118
AA Change: H475Y

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113680
Gene: ENSMUSG00000030518
AA Change: H475Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133883

Meta Mutation Damage Score

0.0789

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	A	C	5: 121,657,795 (GRCm39)	D499E	possibly damaging	Het
Adamtsl2	G	A	2: 26,993,190 (GRCm39)	G740E	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Akap9	G	A	5: 4,096,603 (GRCm39)	V2493I	probably damaging	Het
Ankra2	T	C	13: 98,407,646 (GRCm39)	F199L	probably damaging	Het
Ankrd63	A	G	2: 118,533,846 (GRCm39)		probably benign	Het
Asns	A	G	6: 7,689,316 (GRCm39)	I62T	possibly damaging	Het
Celf3	T	A	3: 94,387,566 (GRCm39)		probably null	Het
Cyp4f37	A	G	17: 32,853,244 (GRCm39)	T403A	probably benign	Het
Dennd2b	T	C	7: 109,156,414 (GRCm39)	D112G	probably benign	Het
Dgkd	T	A	1: 87,857,464 (GRCm39)	S725R	probably benign	Het
Dnah5	G	A	15: 28,408,563 (GRCm39)		probably null	Het
Ergic3	A	G	2: 155,859,736 (GRCm39)	T346A	probably damaging	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Ghrhr	T	C	6: 55,362,444 (GRCm39)	F347S	probably damaging	Het
Htr2a	A	T	14: 74,882,469 (GRCm39)	I152F	probably damaging	Het
Il17re	T	C	6: 113,441,761 (GRCm39)	C219R	probably damaging	Het
Kansl2	A	G	15: 98,422,359 (GRCm39)	L403S	probably damaging	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
L1cam	T	A	X: 72,904,947 (GRCm39)	N503I	possibly damaging	Het
Lrrk2	A	G	15: 91,648,919 (GRCm39)	K1638E	probably benign	Het
Mcpt9	A	T	14: 56,265,445 (GRCm39)	C85S	probably benign	Het
Mindy3	C	A	2: 12,408,856 (GRCm39)	R73M	probably benign	Het
Mrgprb3	T	C	7: 48,292,770 (GRCm39)	I260M	probably benign	Het
Nes	T	A	3: 87,886,238 (GRCm39)	I1499N	possibly damaging	Het
Ninl	A	G	2: 150,791,970 (GRCm39)	V851A	probably benign	Het
Oaz3	T	C	3: 94,341,846 (GRCm39)	T130A	probably benign	Het
Or10j7	A	G	1: 173,011,182 (GRCm39)	I273T	probably benign	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Pcare	A	G	17: 72,056,279 (GRCm39)	S1133P	probably benign	Het
Pdk3	G	T	X: 92,857,604 (GRCm39)	N59K	probably damaging	Het
Pigq	T	C	17: 26,151,183 (GRCm39)	H322R	probably benign	Het
Ppp3r1	G	A	11: 17,143,115 (GRCm39)	G68R	probably damaging	Het
Proz	A	G	8: 13,113,356 (GRCm39)	Y59C	probably damaging	Het
Prpf39	C	T	12: 65,090,786 (GRCm39)	R32*	probably null	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Pth2r	G	T	1: 65,375,928 (GRCm39)	W62L	probably damaging	Het
Scin	T	A	12: 40,118,930 (GRCm39)	K622I	probably damaging	Het
Serpinb6a	T	C	13: 34,109,303 (GRCm39)	K143R	probably damaging	Het
Ska1	G	T	18: 74,330,137 (GRCm39)		probably null	Het
Slc30a8	G	T	15: 52,169,960 (GRCm39)	R62S	probably benign	Het
Slc8a3	A	C	12: 81,361,994 (GRCm39)	I275S	probably damaging	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spmap2l	A	G	5: 77,207,252 (GRCm39)	I337V	possibly damaging	Het
Sspo	A	G	6: 48,425,606 (GRCm39)	I76V	probably damaging	Het
Sult1c2	G	T	17: 54,138,848 (GRCm39)	T243K	probably benign	Het
Svil	T	A	18: 5,046,640 (GRCm39)	M1K	probably null	Het
Tet3	T	C	6: 83,346,453 (GRCm39)	D1328G	probably damaging	Het
Tnfsf14	T	C	17: 57,500,876 (GRCm39)	D65G	probably benign	Het
Trmt9b	T	A	8: 36,979,707 (GRCm39)	C437S	probably damaging	Het
Ttc3	T	C	16: 94,260,831 (GRCm39)	S1439P	probably benign	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Usp20	A	G	2: 30,908,750 (GRCm39)	N777S	probably benign	Het
Zfp92	G	T	X: 72,466,358 (GRCm39)	L450F	possibly 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
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
R8166:Entrep2	UTSW	7	64,409,153 (GRCm39)	missense	probably benign	0.01
R9729:Entrep2	UTSW	7	64,806,056 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTTGCAGGCTTATCAGTGTC -3'
(R):5'- CACGGTTGTATTCAGATTGCCTC -3'

Sequencing Primer
(F):5'- AGGCTTATCAGTGTCCACATCCAG -3'
(R):5'- ATTTCTAGTCTCCACATCACAGCCAG -3'

Posted On

2014-10-15