Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Tm2d3'

316468

Institutional Source

Beutler Lab

Gene Symbol

Tm2d3

Ensembl Gene

ENSMUSG00000078681

Gene Name

TM2 domain containing 3

Synonyms

5930422O05Rik, 1110025I09Rik

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65343204-65351650 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 65347498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 49 (L49*)

Ref Sequence

ENSEMBL: ENSMUSP00000145545 (fasta)

Gene Model

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

AlphaFold

Q8BJ83

Predicted Effect

probably damaging
Transcript: ENSMUST00000032726
AA Change: C111S

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

SMART Domains

Protein: ENSMUSP00000032726
Gene: ENSMUSG00000078681
AA Change: C111S

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 damaging
Transcript: ENSMUST00000065574
AA Change: C142S

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

SMART Domains

Protein: ENSMUSP00000064967
Gene: ENSMUSG00000078681
AA Change: C142S

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 damaging
Transcript: ENSMUST00000107495
AA Change: C142S

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

SMART Domains

Protein: ENSMUSP00000103119
Gene: ENSMUSG00000078681
AA Change: C142S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129166
AA Change: C142S

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

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: C85S

Predicted Effect

probably damaging
Transcript: ENSMUST00000206517
AA Change: C133S

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

Predicted Effect

probably null
Transcript: ENSMUST00000206934
AA Change: L49*

Predicted Effect

probably damaging
Transcript: ENSMUST00000206628
AA Change: C113S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206837

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,485,401 (GRCm39)	E422G	probably damaging	Het
Ace3	A	G	11: 105,888,040 (GRCm39)	Y287C	probably damaging	Het
Adam34l	A	T	8: 44,079,387 (GRCm39)	F279Y	probably damaging	Het
Albfm1	T	A	5: 90,740,727 (GRCm39)		probably null	Het
Arfgap3	C	T	15: 83,187,330 (GRCm39)	A510T	probably damaging	Het
Atg12	A	G	18: 46,870,491 (GRCm39)	F92L	probably benign	Het
Axl	A	G	7: 25,463,336 (GRCm39)		probably benign	Het
Chgb	C	A	2: 132,635,847 (GRCm39)	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,947,849 (GRCm39)	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Crb2	G	T	2: 37,676,855 (GRCm39)	C251F	probably damaging	Het
Crybg3	A	T	16: 59,376,120 (GRCm39)		probably benign	Het
Cytl1	A	G	5: 37,892,940 (GRCm39)	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,492,123 (GRCm39)		probably benign	Het
Depp1	A	G	6: 116,629,029 (GRCm39)	N124S	possibly damaging	Het
Dnah11	A	G	12: 118,009,413 (GRCm39)	M2083T	probably benign	Het
Dst	A	G	1: 34,231,350 (GRCm39)	E2656G	probably benign	Het
Dst	T	C	1: 34,267,542 (GRCm39)	F4995L	probably damaging	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Eps15l1	A	G	8: 73,134,128 (GRCm39)	I482T	probably damaging	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Ero1a	A	T	14: 45,529,893 (GRCm39)		probably null	Het
Etl4	T	C	2: 20,814,030 (GRCm39)		probably benign	Het
Fcho1	T	C	8: 72,163,013 (GRCm39)	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,684,139 (GRCm39)	D289G	probably damaging	Het
Gm5134	T	A	10: 75,844,365 (GRCm39)	W574R	probably damaging	Het
Gm5414	T	C	15: 101,533,988 (GRCm39)	N332D	probably benign	Het
Gnb3	T	A	6: 124,813,942 (GRCm39)	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,781,021 (GRCm39)		noncoding transcript	Het
Ighv1-4	A	G	12: 114,451,147 (GRCm39)	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,702,505 (GRCm39)	Y74*	probably null	Het
Il17f	G	A	1: 20,847,987 (GRCm39)		probably benign	Het
Itpr2	C	T	6: 146,274,742 (GRCm39)		probably null	Het
Krtap31-1	T	C	11: 99,799,058 (GRCm39)	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,917,889 (GRCm39)	F85Y	probably benign	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Myh7b	T	C	2: 155,460,678 (GRCm39)	I277T	probably damaging	Het
Myo3b	T	C	2: 70,119,808 (GRCm39)	F984S	probably damaging	Het
Naip5	G	A	13: 100,382,572 (GRCm39)	R46W	probably damaging	Het
Nup205	T	A	6: 35,168,975 (GRCm39)		probably null	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Pde11a	C	T	2: 76,168,242 (GRCm39)	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865 (GRCm39)	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,356 (GRCm39)		probably null	Het
Pramel33	A	T	5: 93,633,057 (GRCm39)	M50K	probably damaging	Het
Psg23	A	T	7: 18,341,043 (GRCm39)	S404T	possibly damaging	Het
Rev1	T	G	1: 38,093,319 (GRCm39)	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,805,030 (GRCm39)	Q1045P	probably benign	Het
Scg2	A	C	1: 79,414,574 (GRCm39)	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,311,629 (GRCm39)	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,213,950 (GRCm39)	I57K	possibly damaging	Het
Srp72	C	A	5: 77,146,098 (GRCm39)	T633K	probably benign	Het
Swt1	A	G	1: 151,270,520 (GRCm39)	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606 (GRCm39)	I58V	possibly damaging	Het
Tmprss11e	T	C	5: 86,863,502 (GRCm39)	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,890,845 (GRCm39)	N396S	probably benign	Het
Tuba8	T	A	6: 121,199,756 (GRCm39)	S147T	probably damaging	Het
Usp8	A	G	2: 126,594,290 (GRCm39)	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,304,566 (GRCm39)	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,764,374 (GRCm39)	H417L	possibly damaging	Het
Zfp608	A	T	18: 55,031,180 (GRCm39)	V920E	probably damaging	Het
Zmym2	T	C	14: 57,140,461 (GRCm39)	L100P	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
R0265:Tm2d3	UTSW	7	65,347,582 (GRCm39)	missense	possibly damaging	0.60
R2143:Tm2d3	UTSW	7	65,344,987 (GRCm39)	missense	probably damaging	1.00
R4072: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'- CGATGCTACATACGAGCCTTC -3'
(R):5'- CCAAGGGTCTTTCTGAGAACTG -3'

Sequencing Primer
(F):5'- ACGAGCCTTCTTCCTATATGAACTG -3'
(R):5'- CTCAAGTGTGGCTAAGGGCTC -3'

Posted On

2015-05-15