Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Tm2d3'

34849

Institutional Source

Beutler Lab

Gene Symbol

Tm2d3

Ensembl Gene

ENSMUSG00000078681

Gene Name

TM2 domain containing 3

Synonyms

5930422O05Rik, 1110025I09Rik

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0265 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

65343204-65351650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65347582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 170 (A170T)

Ref Sequence

ENSEMBL: ENSMUSP00000146099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032726] [ENSMUST00000065574] [ENSMUST00000107495] [ENSMUST00000129166] [ENSMUST00000143508] [ENSMUST00000206517] [ENSMUST00000206628] [ENSMUST00000206934]

AlphaFold

Q8BJ83

Predicted Effect

probably benign
Transcript: ENSMUST00000032726
AA Change: A139T

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032726
Gene: ENSMUSG00000078681
AA Change: A139T

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
Pfam:TM2	165	214	5.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000065574
AA Change: A170T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000064967
Gene: ENSMUSG00000078681
AA Change: A170T

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
Pfam:TM2	196	245	6.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107495
AA Change: A170T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103119
Gene: ENSMUSG00000078681
AA Change: A170T

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
Pfam:TM2	196	245	5e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129166
AA Change: A170T

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000143508

SMART Domains

Protein: ENSMUSP00000116848
Gene: ENSMUSG00000078681

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000206361
AA Change: A113T

Predicted Effect

probably benign
Transcript: ENSMUST00000206517
AA Change: A161T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000206628
AA Change: A141T

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000206837

Predicted Effect

probably benign
Transcript: ENSMUST00000206934

Meta Mutation Damage Score

0.1224

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,822,850 (GRCm39)	I321V	probably benign	Het
Adcy7	A	G	8: 89,051,391 (GRCm39)	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,617,440 (GRCm39)	Y457*	probably null	Het
Alox5	T	C	6: 116,397,323 (GRCm39)	Y287C	probably benign	Het
Ano8	T	C	8: 71,933,168 (GRCm39)		probably benign	Het
Ap3b1	A	G	13: 94,630,189 (GRCm39)	K815E	unknown	Het
Atp11a	A	T	8: 12,906,930 (GRCm39)		probably benign	Het
Atp6v0a1	A	T	11: 100,939,341 (GRCm39)	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,651,856 (GRCm39)	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,812,637 (GRCm39)	A39G	probably benign	Het
Cdhr1	A	T	14: 36,803,333 (GRCm39)	V581D	probably benign	Het
Cfap20dc	T	G	14: 8,431,667 (GRCm38)	Y655S	probably damaging	Het
Cyp2b23	A	G	7: 26,372,304 (GRCm39)		probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,330,048 (GRCm39)		probably benign	Het
Dnah8	A	T	17: 30,909,245 (GRCm39)	I1024F	probably benign	Het
Dync2i1	T	C	12: 116,221,026 (GRCm39)		probably benign	Het
Edc3	T	A	9: 57,634,621 (GRCm39)	F213I	probably damaging	Het
Edrf1	G	A	7: 133,258,774 (GRCm39)	D717N	probably damaging	Het
Efna5	G	A	17: 62,958,068 (GRCm39)	P63S	probably damaging	Het
Elapor2	T	C	5: 9,484,681 (GRCm39)	L486P	probably damaging	Het
Entpd3	A	G	9: 120,387,547 (GRCm39)	Y248C	probably damaging	Het
Flcn	G	A	11: 59,686,635 (GRCm39)	Q373*	probably null	Het
Fry	T	C	5: 150,358,241 (GRCm39)	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,031,365 (GRCm39)	Y58*	probably null	Het
Gabrp	A	T	11: 33,502,614 (GRCm39)	Y417N	probably damaging	Het
Golga2	C	A	2: 32,194,964 (GRCm39)		probably null	Het
Grip2	C	A	6: 91,750,773 (GRCm39)		probably null	Het
Gsx2	A	G	5: 75,237,729 (GRCm39)	Y227C	probably damaging	Het
H2ac1	T	C	13: 24,118,632 (GRCm39)	V63A	probably benign	Het
Hif3a	T	C	7: 16,769,793 (GRCm39)	*665W	probably null	Het
Hsd3b1	C	A	3: 98,760,089 (GRCm39)	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,529,921 (GRCm39)		probably benign	Het
Inpp4a	A	T	1: 37,418,067 (GRCm39)	D498V	probably damaging	Het
Itga1	A	T	13: 115,128,995 (GRCm39)	D554E	probably benign	Het
Itk	G	A	11: 46,280,285 (GRCm39)		probably benign	Het
Kdm3b	T	A	18: 34,928,716 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,766,984 (GRCm39)	V470A	probably benign	Het
Lamb3	T	A	1: 193,002,839 (GRCm39)	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,376,676 (GRCm39)	I41N	probably damaging	Het
Lrp4	A	T	2: 91,321,015 (GRCm39)	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,832,743 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,749,919 (GRCm39)	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,792,507 (GRCm39)		probably benign	Het
Mocos	A	G	18: 24,799,333 (GRCm39)	D189G	probably benign	Het
Mvb12a	T	A	8: 71,999,654 (GRCm39)	F224L	probably damaging	Het
Myo15a	A	T	11: 60,405,723 (GRCm39)		probably null	Het
Nos2	A	T	11: 78,828,428 (GRCm39)	H249L	probably damaging	Het
Notum	A	G	11: 120,549,160 (GRCm39)	M184T	probably benign	Het
Nvl	C	A	1: 180,962,395 (GRCm39)	D192Y	probably damaging	Het
Or10j3	A	G	1: 173,031,484 (GRCm39)	K187R	probably benign	Het
Or4f57	T	C	2: 111,790,839 (GRCm39)	Y193C	probably damaging	Het
Or5ac22	A	T	16: 59,135,434 (GRCm39)	F112Y	probably damaging	Het
Or5m12	T	A	2: 85,734,591 (GRCm39)	N269I	probably benign	Het
Or8k27	C	A	2: 86,276,303 (GRCm39)	V8L	probably benign	Het
Osgin1	A	G	8: 120,172,396 (GRCm39)	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,510 (GRCm39)	V123A	probably damaging	Het
P4ha1	A	G	10: 59,184,081 (GRCm39)	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,954,403 (GRCm39)	D559V	probably damaging	Het
Phf2	T	C	13: 48,982,270 (GRCm39)	N151S	unknown	Het
Plxnc1	C	A	10: 94,648,991 (GRCm39)	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,901,160 (GRCm39)	*338Q	probably null	Het
Raver1	A	G	9: 20,986,955 (GRCm39)	S676P	probably benign	Het
Rfx8	T	C	1: 39,727,737 (GRCm39)	E196G	possibly damaging	Het
Rreb1	A	T	13: 38,100,131 (GRCm39)	K187*	probably null	Het
Rxfp1	T	C	3: 79,574,961 (GRCm39)	T217A	probably benign	Het
Rxra	T	C	2: 27,642,442 (GRCm39)	L305P	probably damaging	Het
Sardh	T	C	2: 27,117,078 (GRCm39)		probably benign	Het
Skor2	A	T	18: 76,964,293 (GRCm39)	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,147,334 (GRCm39)	S343T	probably benign	Het
Sorbs2	T	C	8: 46,238,374 (GRCm39)		probably benign	Het
Supt7l	C	T	5: 31,673,262 (GRCm39)	V329I	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165 (GRCm39)		probably benign	Het
Tcn2	A	T	11: 3,872,044 (GRCm39)	V361D	probably damaging	Het
Tnks	G	A	8: 35,307,124 (GRCm39)	R1142*	probably null	Het
Ttll7	C	A	3: 146,649,915 (GRCm39)	Y648*	probably null	Het
Umod	G	T	7: 119,065,296 (GRCm39)	Q578K	probably benign	Het
Upf2	G	A	2: 6,032,015 (GRCm39)		probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Washc5	A	G	15: 59,210,809 (GRCm39)	I1013T	probably benign	Het
Zfp704	C	A	3: 9,630,217 (GRCm39)	R48L	probably damaging	Het

Other mutations in Tm2d3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Tm2d3	APN	7	65,344,970 (GRCm39)	nonsense	probably null
IGL02312:Tm2d3	APN	7	65,348,917 (GRCm39)	critical splice donor site	probably null
topple	UTSW	7	65,348,872 (GRCm39)	missense	probably damaging	1.00
R0115:Tm2d3	UTSW	7	65,345,082 (GRCm39)	intron	probably benign
R2143:Tm2d3	UTSW	7	65,344,987 (GRCm39)	missense	probably damaging	1.00
R4072:Tm2d3	UTSW	7	65,347,498 (GRCm39)	nonsense	probably null
R4074:Tm2d3	UTSW	7	65,347,498 (GRCm39)	nonsense	probably null
R4075:Tm2d3	UTSW	7	65,347,498 (GRCm39)	nonsense	probably null
R4076:Tm2d3	UTSW	7	65,347,498 (GRCm39)	nonsense	probably null
R4351:Tm2d3	UTSW	7	65,344,939 (GRCm39)	missense	probably damaging	1.00
R4966:Tm2d3	UTSW	7	65,347,469 (GRCm39)	missense	possibly damaging	0.81
R5381:Tm2d3	UTSW	7	65,351,420 (GRCm39)	missense	probably damaging	1.00
R5571:Tm2d3	UTSW	7	65,348,872 (GRCm39)	missense	probably damaging	1.00
R5621:Tm2d3	UTSW	7	65,351,366 (GRCm39)	missense	probably damaging	1.00
R6819:Tm2d3	UTSW	7	65,347,526 (GRCm39)	missense	probably damaging	1.00
R7168:Tm2d3	UTSW	7	65,343,674 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGATGCTACATACGAGCCTTCTTCC -3'
(R):5'- GCGGCAGTGCTCTTGTTTATCAC -3'

Sequencing Primer
(F):5'- TGCTAGGCCCTAAATACAGTG -3'
(R):5'- TATCACAGATTATGGTGAACGTAGG -3'

Posted On

2013-05-09