Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00516:Tpd52l2'

6934

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpd52l2

Ensembl Gene

ENSMUSG00000000827

Gene Name

tumor protein D52-like 2

Synonyms

2810411G23Rik, D54

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00516

Quality Score

Status

Chromosome

Chromosomal Location

181138935-181159759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181154861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 192 (D192G)

Ref Sequence

ENSEMBL: ENSMUSP00000104427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000844] [ENSMUST00000069712] [ENSMUST00000108799] [ENSMUST00000108800] [ENSMUST00000149163] [ENSMUST00000184849] [ENSMUST00000184588]

AlphaFold

Q9CYZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000000844
AA Change: D169G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827
AA Change: D169G

Domain	Start	End	E-Value	Type
Pfam:TPD52	28	199	6.2e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069712
AA Change: D163G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827
AA Change: D163G

Domain	Start	End	E-Value	Type
Pfam:TPD52	27	193	5.8e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108799
AA Change: D192G

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

SMART Domains

Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827
AA Change: D192G

Domain	Start	End	E-Value	Type
Pfam:TPD52	18	121	1.9e-38	PFAM
Pfam:TPD52	115	220	1.3e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108800
AA Change: D149G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827
AA Change: D149G

Domain	Start	End	E-Value	Type
Pfam:TPD52	27	179	2.9e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130261

Predicted Effect

probably benign
Transcript: ENSMUST00000141825

SMART Domains

Protein: ENSMUSP00000123627
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	12	161	3e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149163
AA Change: D183G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827
AA Change: D183G

Domain	Start	End	E-Value	Type
Pfam:TPD52	28	213	5.2e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000184849
AA Change: D148G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827
AA Change: D148G

Domain	Start	End	E-Value	Type
Pfam:TPD52	9	170	2.4e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157753

Predicted Effect

probably benign
Transcript: ENSMUST00000184588

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Aug 2011]
PHENOTYPE: Female mice homozygous for a knock-out allele exhibit decreased body length and absent or minimal hepatic lipidosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	T	C	11: 80,267,638 (GRCm39)	D91G	possibly damaging	Het
Abcc1	T	A	16: 14,231,176 (GRCm39)	L438*	probably null	Het
Asph	A	T	4: 9,639,322 (GRCm39)	N14K	probably damaging	Het
Baz1b	T	C	5: 135,245,444 (GRCm39)	Y298H	probably damaging	Het
Ccdc66	A	T	14: 27,220,413 (GRCm39)	W267R	probably damaging	Het
Cd81	A	C	7: 142,620,901 (GRCm39)	K193N	probably damaging	Het
Cdkn1a	C	A	17: 29,317,494 (GRCm39)	A38E	possibly damaging	Het
Cflar	T	C	1: 58,771,469 (GRCm39)	I199T	probably benign	Het
Cmya5	A	G	13: 93,234,675 (GRCm39)	S138P	possibly damaging	Het
Cnot1	T	C	8: 96,452,707 (GRCm39)	N2123S	probably damaging	Het
Crybg3	A	G	16: 59,350,803 (GRCm39)	S846P	probably benign	Het
Cyp2d9	A	G	15: 82,339,295 (GRCm39)	I21M	probably benign	Het
Ddx41	T	C	13: 55,680,280 (GRCm39)	T371A	probably damaging	Het
Dnhd1	A	T	7: 105,306,418 (GRCm39)	I425F	possibly damaging	Het
Dsc1	T	C	18: 20,234,943 (GRCm39)	D237G	probably damaging	Het
Emc1	T	C	4: 139,082,393 (GRCm39)		probably benign	Het
Epc1	T	A	18: 6,450,515 (GRCm39)	D367V	probably damaging	Het
Glp1r	A	G	17: 31,144,532 (GRCm39)	Y235C	probably damaging	Het
Helb	A	G	10: 119,941,329 (GRCm39)	V453A	probably damaging	Het
Hras	A	G	7: 140,772,783 (GRCm39)	I24T	possibly damaging	Het
Hsf2	A	T	10: 57,388,124 (GRCm39)	I423L	probably benign	Het
Igkv2-109	T	A	6: 68,280,054 (GRCm39)	S92T	probably benign	Het
Kiss1r	G	A	10: 79,754,550 (GRCm39)	A15T	possibly damaging	Het
Krt79	T	C	15: 101,848,601 (GRCm39)	S17G	probably damaging	Het
Lrrc14b	T	C	13: 74,509,078 (GRCm39)	D443G	probably damaging	Het
Map4k4	T	A	1: 40,053,762 (GRCm39)	V953E	probably damaging	Het
Mybpc2	G	A	7: 44,154,829 (GRCm39)		probably benign	Het
Nadsyn1	T	C	7: 143,366,530 (GRCm39)	E173G	probably damaging	Het
Neurl4	C	T	11: 69,801,219 (GRCm39)	R1199W	probably damaging	Het
Otog	T	A	7: 45,900,706 (GRCm39)	V333E	probably damaging	Het
Pdcd2l	A	T	7: 33,884,246 (GRCm39)		probably null	Het
Plagl1	A	G	10: 13,003,616 (GRCm39)		probably benign	Het
Rbm34	T	C	8: 127,696,736 (GRCm39)	N122S	probably benign	Het
Shank2	A	G	7: 143,964,512 (GRCm39)	K917E	possibly damaging	Het
Slc17a8	T	C	10: 89,427,157 (GRCm39)	K315E	possibly damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Sytl2	A	G	7: 90,022,113 (GRCm39)	T183A	probably benign	Het
Tnik	T	A	3: 28,708,367 (GRCm39)	I1067N	probably damaging	Het
Trhde	A	T	10: 114,282,104 (GRCm39)	I791N	probably benign	Het
Ttc28	A	T	5: 111,373,554 (GRCm39)	N966Y	probably damaging	Het
Vps13b	A	T	15: 35,640,703 (GRCm39)	D1356V	probably damaging	Het
Zmym2	A	G	14: 57,185,394 (GRCm39)		probably benign	Het

Other mutations in Tpd52l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Tpd52l2	APN	2	181,141,689 (GRCm39)	missense	probably damaging	1.00
IGL02475:Tpd52l2	APN	2	181,141,667 (GRCm39)	missense	probably benign	0.11
IGL03394:Tpd52l2	APN	2	181,156,879 (GRCm39)	missense	probably benign	0.39
PIT4791001:Tpd52l2	UTSW	2	181,141,681 (GRCm39)	missense	probably benign	0.02
R0276:Tpd52l2	UTSW	2	181,143,852 (GRCm39)	splice site	probably null
R0615:Tpd52l2	UTSW	2	181,143,744 (GRCm39)	missense	probably damaging	1.00
R4910:Tpd52l2	UTSW	2	181,157,005 (GRCm39)	unclassified	probably benign
R5201:Tpd52l2	UTSW	2	181,156,879 (GRCm39)	missense	probably benign	0.39
R5527:Tpd52l2	UTSW	2	181,143,847 (GRCm39)	critical splice donor site	probably null
R5806:Tpd52l2	UTSW	2	181,144,680 (GRCm39)	missense	probably damaging	1.00
R5809:Tpd52l2	UTSW	2	181,153,372 (GRCm39)	missense	probably damaging	1.00
R5839:Tpd52l2	UTSW	2	181,141,691 (GRCm39)	missense	probably benign	0.41
R8702:Tpd52l2	UTSW	2	181,143,749 (GRCm39)	missense	probably damaging	1.00
R8866:Tpd52l2	UTSW	2	181,154,861 (GRCm39)	missense	probably damaging	1.00
R9194:Tpd52l2	UTSW	2	181,141,683 (GRCm39)	missense	possibly damaging	0.90

Posted On

2012-04-20