Mutagenetix > Incidental Mutation

Incidental Mutation 'R1368:Entrep2'

155879

Institutional Source

Beutler Lab

Gene Symbol

Entrep2

Ensembl Gene

ENSMUSG00000030518

Gene Name

endosomal transmembrane epsin interactor 2

Synonyms

Fam189a1, 5730507A09Rik

MMRRC Submission

039433-MU

Accession Numbers

Essential gene?

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

Stock #

R1368 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64405839-64806276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64469625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 41 (V41E)

Ref Sequence

ENSEMBL: ENSMUSP00000115095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119118] [ENSMUST00000148459] [ENSMUST00000149851]

AlphaFold

Q6A044

Predicted Effect

probably damaging
Transcript: ENSMUST00000119118
AA Change: V137E

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

SMART Domains

Protein: ENSMUSP00000113680
Gene: ENSMUSG00000030518
AA Change: V137E

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: ENSMUST00000144535

Predicted Effect

probably damaging
Transcript: ENSMUST00000148459
AA Change: V100E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116119
Gene: ENSMUSG00000030518
AA Change: V100E

Domain	Start	End	E-Value	Type
Pfam:CD20	34	162	1.8e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000149851
AA Change: V41E

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

SMART Domains

Protein: ENSMUSP00000115095
Gene: ENSMUSG00000030518
AA Change: V41E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC

Meta Mutation Damage Score

0.8213

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,241,836 (GRCm39)	D1233G	probably benign	Het
Abcc8	G	A	7: 45,772,284 (GRCm39)	R832W	probably damaging	Het
Atp10b	A	G	11: 43,092,981 (GRCm39)	T439A	probably damaging	Het
Brd10	C	A	19: 29,693,796 (GRCm39)	S1966I	probably damaging	Het
C130073F10Rik	T	A	4: 101,747,953 (GRCm39)	N74Y	possibly damaging	Het
Cct8	G	A	16: 87,288,200 (GRCm39)	S124L	probably damaging	Het
Cdh9	T	A	15: 16,848,568 (GRCm39)		probably benign	Het
Cep290	C	T	10: 100,330,828 (GRCm39)		probably benign	Het
Chrng	T	A	1: 87,133,575 (GRCm39)	L10H	probably damaging	Het
Cnn3	T	C	3: 121,250,786 (GRCm39)	L189S	probably benign	Het
Cog4	A	G	8: 111,585,157 (GRCm39)		probably benign	Het
Cxcl12	A	G	6: 117,153,111 (GRCm39)		probably benign	Het
Eif2b2	G	A	12: 85,270,230 (GRCm39)	A257T	probably damaging	Het
Fanca	G	A	8: 124,031,020 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,858,903 (GRCm39)	Q2341R	possibly damaging	Het
Fktn	G	A	4: 53,734,880 (GRCm39)	G173R	probably damaging	Het
Gabbr2	T	C	4: 46,674,464 (GRCm39)	N841S	probably benign	Het
Gm5622	T	A	14: 51,899,647 (GRCm39)	V167E	possibly damaging	Het
Gnaq	T	C	19: 16,355,651 (GRCm39)	V289A	probably benign	Het
Gpatch2l	T	G	12: 86,307,439 (GRCm39)	D272E	possibly damaging	Het
Gzmg	G	A	14: 56,395,263 (GRCm39)	T74I	probably benign	Het
Ikzf2	G	A	1: 69,578,474 (GRCm39)	A271V	possibly damaging	Het
Lig4	T	C	8: 10,021,176 (GRCm39)	D868G	possibly damaging	Het
Mfsd6	T	C	1: 52,747,764 (GRCm39)	E367G	possibly damaging	Het
Mpz	T	C	1: 170,987,533 (GRCm39)	L223P	probably damaging	Het
Muc17	T	C	5: 137,175,674 (GRCm39)		probably benign	Het
Or2f1b	C	A	6: 42,739,613 (GRCm39)	T209K	possibly damaging	Het
Pdcd2	G	T	17: 15,746,846 (GRCm39)	N104K	probably damaging	Het
Pigg	G	T	5: 108,465,154 (GRCm39)	G129V	probably damaging	Het
Ppp3cc	T	C	14: 70,483,311 (GRCm39)	Y254C	probably damaging	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Psg23	A	G	7: 18,348,645 (GRCm39)	V54A	probably benign	Het
Psmd3	A	G	11: 98,573,746 (GRCm39)	D64G	probably damaging	Het
Psmg2	CTTCAGTT	CTTCAGTTCAGTT	18: 67,779,095 (GRCm39)		probably null	Het
Ptgdr	T	A	14: 45,090,799 (GRCm39)	I320F	probably damaging	Het
Rad50	T	A	11: 53,574,072 (GRCm39)	K722*	probably null	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rgs9	G	A	11: 109,138,977 (GRCm39)	S255L	probably benign	Het
Ror1	C	T	4: 100,298,334 (GRCm39)	P569L	possibly damaging	Het
Rsad2	T	C	12: 26,497,147 (GRCm39)		probably null	Het
Scn8a	A	G	15: 100,933,422 (GRCm39)	D1501G	probably damaging	Het
Sema3c	A	G	5: 17,883,330 (GRCm39)	T313A	possibly damaging	Het
Serpinc1	T	A	1: 160,821,094 (GRCm39)	F59L	probably damaging	Het
Sike1	A	G	3: 102,903,500 (GRCm39)	D63G	possibly damaging	Het
Slc25a11	T	A	11: 70,536,352 (GRCm39)		probably null	Het
Slc32a1	A	G	2: 158,453,240 (GRCm39)	M27V	probably benign	Het
Smc5	A	G	19: 23,187,807 (GRCm39)	V1003A	probably damaging	Het
Tll2	G	A	19: 41,108,667 (GRCm39)	R328C	probably damaging	Het
Topaz1	A	G	9: 122,577,315 (GRCm39)	E75G	possibly damaging	Het
Tspan3	A	T	9: 56,054,783 (GRCm39)	V48E	probably benign	Het
Ugt1a6b	T	C	1: 88,035,358 (GRCm39)	I232T	probably benign	Het
Unc79	A	G	12: 103,122,772 (GRCm39)	K2290E	probably damaging	Het
Vmn1r19	T	C	6: 57,381,656 (GRCm39)	F70L	probably benign	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
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
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'- AGAGCTTCCAAATCGTCTACAGCCC -3'
(R):5'- TTCACGGTGGCATTCATGGCCTTG -3'

Sequencing Primer
(F):5'- AAGGTGCTCTTTCCTGAAGGC -3'
(R):5'- GGTCAATGGAGATTGTCTTAGC -3'

Posted On

2014-02-11