Mutagenetix > Incidental Mutation

Incidental Mutation 'R0615:Tpd52l2'

54997

Institutional Source

Beutler Lab

Gene Symbol

Tpd52l2

Ensembl Gene

ENSMUSG00000000827

Gene Name

tumor protein D52-like 2

Synonyms

2810411G23Rik, D54

MMRRC Submission

038804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0615 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

181138935-181159759 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181143744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 50 (E50G)

Ref Sequence

ENSEMBL: ENSMUSP00000138837 (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: E71G

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

SMART Domains

Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827
AA Change: E71G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000069712
AA Change: E71G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827
AA Change: E71G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108799
AA Change: E71G

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

SMART Domains

Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827
AA Change: E71G

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 damaging
Transcript: ENSMUST00000108800
AA Change: E71G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827
AA Change: E71G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129390

Predicted Effect

unknown
Transcript: ENSMUST00000141825
AA Change: E64G

SMART Domains

Protein: ENSMUSP00000123627
Gene: ENSMUSG00000000827
AA Change: E64G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149163
AA Change: E71G

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

SMART Domains

Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827
AA Change: E71G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000184849
AA Change: E50G

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

SMART Domains

Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827
AA Change: E50G

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

Predicted Effect

silent
Transcript: ENSMUST00000184588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155589

Meta Mutation Damage Score

0.5294

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (57/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	C	19: 42,040,962 (GRCm39)	I31T	possibly damaging	Het
Abca13	A	G	11: 9,206,197 (GRCm39)	I166V	probably damaging	Het
Acaa2	G	T	18: 74,931,517 (GRCm39)	V238L	probably benign	Het
Ahsg	A	T	16: 22,717,805 (GRCm39)	I296F	possibly damaging	Het
Aspm	T	A	1: 139,415,027 (GRCm39)	V1436D	probably damaging	Het
Ate1	A	T	7: 130,115,563 (GRCm39)		probably benign	Het
Atosa	T	A	9: 74,911,570 (GRCm39)	Y14N	probably damaging	Het
Atp1a4	A	T	1: 172,059,627 (GRCm39)		probably benign	Het
Aurkc	A	T	7: 7,005,402 (GRCm39)	I223L	possibly damaging	Het
Bckdha	G	T	7: 25,341,210 (GRCm39)	D50E	probably benign	Het
Brf2	C	T	8: 27,614,059 (GRCm39)	E376K	probably benign	Het
Cdk9	C	A	2: 32,599,813 (GRCm39)	L141F	possibly damaging	Het
Cgn	A	C	3: 94,678,024 (GRCm39)		probably benign	Het
Clcn1	G	A	6: 42,282,509 (GRCm39)	V526I	probably damaging	Het
Cnot2	A	G	10: 116,334,141 (GRCm39)	V343A	possibly damaging	Het
Commd2	A	T	3: 57,554,116 (GRCm39)	V195D	possibly damaging	Het
Cubn	C	T	2: 13,365,063 (GRCm39)		probably null	Het
Eif2ak4	C	T	2: 118,266,666 (GRCm39)	T729M	probably damaging	Het
Elac1	A	T	18: 73,871,954 (GRCm39)	V347E	probably damaging	Het
Fam209	T	C	2: 172,316,053 (GRCm39)	S143P	probably benign	Het
Fam20c	G	A	5: 138,793,241 (GRCm39)	R454Q	probably damaging	Het
Faxc	C	T	4: 21,958,608 (GRCm39)	S255L	probably benign	Het
Fem1al	C	A	11: 29,774,515 (GRCm39)	R314L	probably damaging	Het
Foxj1	T	C	11: 116,224,908 (GRCm39)	D153G	possibly damaging	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Lmo7	T	A	14: 102,114,295 (GRCm39)	Y12*	probably null	Het
Matn3	T	G	12: 9,013,594 (GRCm39)	C425W	probably damaging	Het
Mmd2	A	T	5: 142,550,668 (GRCm39)	M190K	probably benign	Het
Morn2	A	T	17: 80,603,026 (GRCm39)	T102S	probably damaging	Het
Nr3c2	A	C	8: 77,912,518 (GRCm39)	T710P	probably benign	Het
Nrros	C	A	16: 31,962,903 (GRCm39)	L343F	probably damaging	Het
Ntrk2	C	T	13: 59,276,000 (GRCm39)	Q767*	probably null	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4k47	C	T	2: 111,452,264 (GRCm39)	D52N	possibly damaging	Het
Plekhf2	C	T	4: 10,991,330 (GRCm39)	R4H	probably benign	Het
Ppox	A	G	1: 171,105,387 (GRCm39)		probably benign	Het
Qprt	T	A	7: 126,708,248 (GRCm39)	D61V	probably damaging	Het
Reln	A	G	5: 22,215,148 (GRCm39)	V1101A	probably benign	Het
Sbno1	T	C	5: 124,548,202 (GRCm39)	N124D	probably damaging	Het
Scx	C	T	15: 76,342,295 (GRCm39)	P165L	probably benign	Het
Sema6d	T	C	2: 124,496,055 (GRCm39)		probably benign	Het
Serf2	T	C	2: 121,281,336 (GRCm39)	F92L	probably benign	Het
Synpo2	A	T	3: 122,910,936 (GRCm39)	N236K	probably damaging	Het
Tbc1d32	C	A	10: 56,100,736 (GRCm39)	D81Y	probably benign	Het
Terf2	G	A	8: 107,809,622 (GRCm39)	T232I	possibly damaging	Het
Tprn	A	G	2: 25,154,210 (GRCm39)	E504G	probably damaging	Het
Tufm	G	T	7: 126,086,654 (GRCm39)	R12L	probably benign	Het
Vmn2r8	A	G	5: 108,947,195 (GRCm39)	F519S	probably damaging	Het
Vwa8	T	C	14: 79,145,590 (GRCm39)	V89A	probably benign	Het
Wnt3	T	C	11: 103,703,207 (GRCm39)	I230T	possibly damaging	Het
Zan	A	T	5: 137,466,693 (GRCm39)	F388Y	probably damaging	Het
Zfp474	C	T	18: 52,771,421 (GRCm39)	L25F	probably benign	Het

Other mutations in Tpd52l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Tpd52l2	APN	2	181,154,861 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGGAGGTTAAGGTACTGATGCCAGG -3'
(R):5'- TCCATGAGTAAACACAGGCACAGTC -3'

Sequencing Primer
(F):5'- atctgcctgcctcttcatc -3'
(R):5'- GCTCATTCAATGCTGATTGTTGTATC -3'

Posted On

2013-07-11