Mutagenetix > Incidental Mutation

Incidental Mutation 'R2230:Entrep2'

239985

Institutional Source

Beutler Lab

Gene Symbol

Entrep2

Ensembl Gene

ENSMUSG00000030518

Gene Name

endosomal transmembrane epsin interactor 2

Synonyms

Fam189a1, 5730507A09Rik

MMRRC Submission

040231-MU

Accession Numbers

Essential gene?

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

Stock #

R2230 (G1)

Quality Score

225

Status

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,521,347 (GRCm39)	N280K	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly 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
Apoa2	A	G	1: 171,053,340 (GRCm39)	K53R	probably benign	Het
Atr	A	G	9: 95,802,818 (GRCm39)	R1827G	probably damaging	Het
Ccdc61	T	C	7: 18,625,032 (GRCm39)	E502G	probably damaging	Het
Ccn2	T	A	10: 24,472,371 (GRCm39)	M138K	possibly damaging	Het
Cdon	T	C	9: 35,403,222 (GRCm39)		probably null	Het
Cyp2c68	T	A	19: 39,687,804 (GRCm39)	S398C	probably benign	Het
Cyp2e1	T	C	7: 140,344,827 (GRCm39)	S98P	probably damaging	Het
Dock2	T	A	11: 34,244,323 (GRCm39)	I1036F	probably damaging	Het
Entpd7	T	C	19: 43,710,255 (GRCm39)	V304A	probably benign	Het
Ergic3	A	G	2: 155,859,736 (GRCm39)	T346A	probably damaging	Het
F2	T	C	2: 91,456,102 (GRCm39)	D553G	probably benign	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
Gm10650	A	G	3: 127,833,412 (GRCm39)		noncoding transcript	Het
Gm21850	G	T	2: 153,900,248 (GRCm39)	V202L	probably benign	Het
Hdc	T	A	2: 126,435,938 (GRCm39)	E644D	possibly damaging	Het
Hypk	G	A	2: 121,287,773 (GRCm39)		probably null	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
Mgll	G	A	6: 88,802,714 (GRCm39)	V318M	possibly damaging	Het
Mrgprb3	T	C	7: 48,292,770 (GRCm39)	I260M	probably benign	Het
Musk	A	T	4: 58,333,672 (GRCm39)	I256F	possibly damaging	Het
Myl3	T	C	9: 110,596,979 (GRCm39)	L113P	probably damaging	Het
Myo5c	A	G	9: 75,180,888 (GRCm39)	D759G	probably benign	Het
Nkx2-1	G	A	12: 56,580,071 (GRCm39)	Q290*	probably null	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
Or7g16	A	G	9: 18,727,021 (GRCm39)	S190P	probably damaging	Het
Or8c13	T	C	9: 38,091,442 (GRCm39)	T226A	probably benign	Het
Pabpc2	G	A	18: 39,908,123 (GRCm39)	V463I	probably benign	Het
Piezo2	A	T	18: 63,278,143 (GRCm39)	C254S	probably damaging	Het
Plxnd1	C	A	6: 115,941,105 (GRCm39)	R1302L	probably damaging	Het
Pnpla7	T	C	2: 24,941,610 (GRCm39)		probably benign	Het
Ppl	G	A	16: 4,906,845 (GRCm39)	T1150I	possibly damaging	Het
Prkag2	G	T	5: 25,113,362 (GRCm39)	A113E	probably benign	Het
Proz	A	G	8: 13,113,356 (GRCm39)	Y59C	probably damaging	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Sec14l5	A	G	16: 4,994,345 (GRCm39)	T380A	probably damaging	Het
Snw1	A	G	12: 87,499,428 (GRCm39)	V391A	probably benign	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Sspo	A	G	6: 48,425,606 (GRCm39)	I76V	probably damaging	Het
Sspo	C	A	6: 48,477,437 (GRCm39)	Q5123K	probably benign	Het
Tbc1d21	A	C	9: 58,270,363 (GRCm39)	N137K	probably damaging	Het
Tek	G	A	4: 94,699,573 (GRCm39)	C317Y	probably damaging	Het
Tet3	T	C	6: 83,346,453 (GRCm39)	D1328G	probably damaging	Het
Topbp1	T	A	9: 103,223,047 (GRCm39)	I1377N	probably damaging	Het
Trmt9b	T	A	8: 36,979,707 (GRCm39)	C437S	probably damaging	Het
Ttf2	A	G	3: 100,865,260 (GRCm39)	V544A	probably damaging	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Ugt2b38	A	G	5: 87,569,527 (GRCm39)	F267L	probably benign	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Vwa5a	G	A	9: 38,645,174 (GRCm39)	G420R	probably null	Het
Vwa8	T	C	14: 79,329,843 (GRCm39)		probably null	Het
Zfp708	A	T	13: 67,219,036 (GRCm39)	Y229*	probably null	Het
Zzef1	T	A	11: 72,775,242 (GRCm39)	M1745K	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
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
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'- TTGCAGGCTTATCAGTGTCC -3'
(R):5'- TCACGGTTGTATTCAGATTGCC -3'

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

Posted On

2014-10-15