Mutagenetix > Incidental Mutation

Incidental Mutation 'R5809:Tpd52l2'

448888

Institutional Source

Beutler Lab

Gene Symbol

Tpd52l2

Ensembl Gene

ENSMUSG00000000827

Gene Name

tumor protein D52-like 2

Synonyms

2810411G23Rik, D54

MMRRC Submission

043394-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5809 (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 181153372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 161 (Y161C)

Ref Sequence

ENSEMBL: ENSMUSP00000117690 (fasta)

Gene Model

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

AlphaFold

Q9CYZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000000844

SMART Domains

Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000069712
AA Change: Y141C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827
AA Change: Y141C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108799
AA Change: Y170C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827
AA Change: Y170C

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

SMART Domains

Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130261

Predicted Effect

unknown
Transcript: ENSMUST00000141825
AA Change: Y143C

SMART Domains

Protein: ENSMUSP00000123627
Gene: ENSMUSG00000000827
AA Change: Y143C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149163
AA Change: Y161C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827
AA Change: Y161C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157753

Predicted Effect

probably benign
Transcript: ENSMUST00000184849

SMART Domains

Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184588

Meta Mutation Damage Score

0.4984

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (77/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	G	8: 12,329,556 (GRCm39)	S4G	unknown	Het
AA623943	T	C	11: 94,703,828 (GRCm39)		noncoding transcript	Het
Abca13	T	A	11: 9,243,692 (GRCm39)	S1852T	probably damaging	Het
Ackr2	G	A	9: 121,738,540 (GRCm39)	C305Y	probably damaging	Het
Aebp1	T	C	11: 5,820,257 (GRCm39)	V411A	probably benign	Het
Akp3	G	A	1: 87,054,270 (GRCm39)	R269H	probably benign	Het
Alox15	C	A	11: 70,241,708 (GRCm39)	G58W	probably damaging	Het
Ankle2	A	G	5: 110,385,856 (GRCm39)	N369S	probably damaging	Het
Ankrd28	T	A	14: 31,465,311 (GRCm39)	I289L	probably benign	Het
Atp13a4	T	A	16: 29,252,805 (GRCm39)	T714S	possibly damaging	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Blm	A	T	7: 80,114,592 (GRCm39)	L1159Q	probably damaging	Het
Caskin1	G	A	17: 24,723,521 (GRCm39)	V770I	probably benign	Het
Ccdc148	T	A	2: 58,713,657 (GRCm39)	H498L	probably damaging	Het
Cdh26	T	A	2: 178,101,919 (GRCm39)	Y179*	probably null	Het
Cela2a	T	A	4: 141,552,864 (GRCm39)	T38S	probably benign	Het
Cep350	A	T	1: 155,809,087 (GRCm39)	N496K	probably damaging	Het
Cep89	A	G	7: 35,117,151 (GRCm39)	Y251C	probably damaging	Het
Cluh	T	C	11: 74,552,526 (GRCm39)	S524P	probably damaging	Het
Cpeb4	T	C	11: 31,822,801 (GRCm39)	S172P	probably damaging	Het
Ctnnd2	T	C	15: 30,847,523 (GRCm39)	S705P	probably damaging	Het
Dock2	T	G	11: 34,212,445 (GRCm39)	D1232A	probably benign	Het
Donson	T	C	16: 91,484,738 (GRCm39)	N9S	possibly damaging	Het
Gdf9	T	C	11: 53,324,381 (GRCm39)	L50P	probably benign	Het
Gm10300	C	T	4: 131,802,458 (GRCm39)		probably benign	Het
Gm8369	A	G	19: 11,482,248 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,924 (GRCm39)		noncoding transcript	Het
Hepacam	T	A	9: 37,296,101 (GRCm39)	S417R	possibly damaging	Het
Hibch	T	A	1: 52,892,859 (GRCm39)	L23Q	probably benign	Het
Hmcn1	G	A	1: 150,525,358 (GRCm39)	R3389C	probably damaging	Het
Hsp90ab1	G	T	17: 45,881,575 (GRCm39)		probably benign	Het
Hunk	C	A	16: 90,272,791 (GRCm39)	T365K	probably damaging	Het
Il12a	A	T	3: 68,602,595 (GRCm39)		probably benign	Het
Ints13	A	G	6: 146,477,847 (GRCm39)	V34A	probably benign	Het
Intu	A	C	3: 40,634,020 (GRCm39)	M418L	probably damaging	Het
Khdc4	A	G	3: 88,616,192 (GRCm39)	R460G	probably damaging	Het
Klra9	A	G	6: 130,156,036 (GRCm39)	S240P	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ndrg1	A	G	15: 66,802,699 (GRCm39)		probably benign	Het
Or11g24	T	C	14: 50,662,905 (GRCm39)	*310Q	probably null	Het
Or5k17	T	C	16: 58,746,860 (GRCm39)	T25A	probably benign	Het
Pate6	C	T	9: 35,700,297 (GRCm39)	C96Y	probably damaging	Het
Pax7	A	G	4: 139,557,682 (GRCm39)	S30P	probably damaging	Het
Pdcd11	A	T	19: 47,082,247 (GRCm39)	T54S	probably benign	Het
Pex19	T	C	1: 171,958,306 (GRCm39)	V95A	probably damaging	Het
Pkhd1l1	A	G	15: 44,383,103 (GRCm39)	I1121V	probably benign	Het
Pklr	A	T	3: 89,049,091 (GRCm39)	I146F	probably benign	Het
Plcb1	T	C	2: 135,104,164 (GRCm39)	Y278H	possibly damaging	Het
Plcl1	T	A	1: 55,735,160 (GRCm39)	I167N	probably damaging	Het
Plekhh1	A	T	12: 79,125,461 (GRCm39)	I1241F	probably benign	Het
Plxnb2	G	T	15: 89,051,774 (GRCm39)	D148E	possibly damaging	Het
Pthlh	T	C	6: 147,158,745 (GRCm39)	I72V	probably damaging	Het
Ptpru	C	T	4: 131,513,067 (GRCm39)	R880Q	probably benign	Het
Rrp36	T	C	17: 46,978,932 (GRCm39)	K209E	probably damaging	Het
Scarb1	A	G	5: 125,381,286 (GRCm39)	V86A	probably damaging	Het
Sh2d7	A	C	9: 54,446,860 (GRCm39)	S37R	probably benign	Het
Slc13a2	A	T	11: 78,288,647 (GRCm39)	V543E	probably damaging	Het
Smarcal1	A	G	1: 72,630,296 (GRCm39)	T117A	probably benign	Het
Smok2a	A	G	17: 13,445,865 (GRCm39)	R481G	possibly damaging	Het
Smr2	G	A	5: 88,256,699 (GRCm39)	A126T	probably benign	Het
Sspo	G	T	6: 48,436,979 (GRCm39)	W1304C	possibly damaging	Het
Svep1	A	G	4: 58,116,524 (GRCm39)	S909P	possibly damaging	Het
Tchh	A	T	3: 93,352,880 (GRCm39)	K773N	unknown	Het
Tmem156	T	C	5: 65,232,950 (GRCm39)	N140S	possibly damaging	Het
Tmem213	T	C	6: 38,092,589 (GRCm39)	I107T	possibly damaging	Het
Trappc8	C	T	18: 20,951,139 (GRCm39)	A1436T	probably benign	Het
Ubr3	A	G	2: 69,795,855 (GRCm39)	Y933C	possibly damaging	Het
Ufm1	A	T	3: 53,765,303 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,103,931 (GRCm39)	L725Q	probably damaging	Het
Zdbf2	A	G	1: 63,345,035 (GRCm39)	D1138G	possibly damaging	Het
Zkscan16	G	A	4: 58,946,481 (GRCm39)	V119M	probably damaging	Het
Zmat5	A	G	11: 4,672,431 (GRCm39)	D16G	probably damaging	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
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
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'- AGCAGTGGCATCATCGGAAG -3'
(R):5'- GCTAGCTTACACACAGTCATTAAC -3'

Sequencing Primer
(F):5'- CATCATCGGAAGCCCATGGAG -3'
(R):5'- CAAGGTGTGACTCGTATTG -3'

Posted On

2016-12-15