Mutagenetix > Incidental Mutation

Incidental Mutation 'R5381:Tm2d3'

424718

Institutional Source

Beutler Lab

Gene Symbol

Tm2d3

Ensembl Gene

ENSMUSG00000078681

Gene Name

TM2 domain containing 3

Synonyms

5930422O05Rik, 1110025I09Rik

MMRRC Submission

042956-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5381 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65343204-65351650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65351420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 225 (G225S)

Ref Sequence

ENSEMBL: ENSMUSP00000145534 (fasta)

Gene Model

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

AlphaFold

Q8BJ83

Predicted Effect

probably damaging
Transcript: ENSMUST00000032726
AA Change: G203S

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

SMART Domains

Protein: ENSMUSP00000032726
Gene: ENSMUSG00000078681
AA Change: G203S

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: G234S

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

SMART Domains

Protein: ENSMUSP00000064967
Gene: ENSMUSG00000078681
AA Change: G234S

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: G234S

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

SMART Domains

Protein: ENSMUSP00000103119
Gene: ENSMUSG00000078681
AA Change: G234S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129166

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

probably benign
Transcript: ENSMUST00000206361

Predicted Effect

probably damaging
Transcript: ENSMUST00000206517
AA Change: G225S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206628

Predicted Effect

probably benign
Transcript: ENSMUST00000206934

Meta Mutation Damage Score

0.8801

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (74/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	G	T	11: 65,044,137 (GRCm39)	S19*	probably null	Het
4930432E11Rik	A	T	7: 29,262,393 (GRCm39)		noncoding transcript	Het
Acvr1c	T	C	2: 58,177,747 (GRCm39)	T241A	probably damaging	Het
Ankmy1	T	C	1: 92,804,284 (GRCm39)	T900A	probably benign	Het
Anp32a	A	C	9: 62,279,459 (GRCm39)	E107A	probably damaging	Het
Arhgef40	T	C	14: 52,229,306 (GRCm39)	I623T	probably damaging	Het
Camsap3	T	A	8: 3,653,812 (GRCm39)	I483N	probably damaging	Het
Card9	G	A	2: 26,248,895 (GRCm39)	L85F	probably damaging	Het
Cbfa2t2	T	G	2: 154,365,849 (GRCm39)	V353G	probably damaging	Het
Ccdc166	A	T	15: 75,852,701 (GRCm39)	L422*	probably null	Het
Ccdc198	T	C	14: 49,470,364 (GRCm39)	D185G	probably damaging	Het
Ccdc73	A	T	2: 104,820,270 (GRCm39)	N416Y	probably damaging	Het
Celsr2	A	T	3: 108,310,073 (GRCm39)	D1552E	probably damaging	Het
Ces1b	A	T	8: 93,791,647 (GRCm39)	N317K	probably benign	Het
Col6a3	T	C	1: 90,703,334 (GRCm39)	R2471G	unknown	Het
Crocc	C	T	4: 140,756,622 (GRCm39)	R1165H	possibly damaging	Het
Csmd3	T	A	15: 47,604,611 (GRCm39)	Y1955F	probably benign	Het
Ctbp1	A	T	5: 33,407,034 (GRCm39)	D232E	probably benign	Het
Cuedc1	T	A	11: 88,078,812 (GRCm39)		probably null	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dusp6	G	A	10: 99,102,129 (GRCm39)	V226I	possibly damaging	Het
Gpr152	A	G	19: 4,192,516 (GRCm39)	E19G	probably damaging	Het
Ighv16-1	T	C	12: 114,032,593 (GRCm39)	T70A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Il12b	C	A	11: 44,298,699 (GRCm39)	D51E	possibly damaging	Het
Il9r	T	G	11: 32,140,715 (GRCm39)	D435A	probably benign	Het
Jakmip2	T	C	18: 43,715,025 (GRCm39)	D167G	probably damaging	Het
Klrd1	A	G	6: 129,572,397 (GRCm39)	D63G	possibly damaging	Het
Lactb	A	G	9: 66,863,297 (GRCm39)	L439P	probably damaging	Het
Laptm5	T	C	4: 130,660,969 (GRCm39)		probably benign	Het
Lgals1	A	G	15: 78,814,223 (GRCm39)	D96G	probably benign	Het
Lrp8	A	T	4: 107,726,307 (GRCm39)	H871L	probably damaging	Het
Mfap4	A	T	11: 61,378,756 (GRCm39)	I235F	probably benign	Het
Muc6	G	A	7: 141,217,836 (GRCm39)	T2279I	possibly damaging	Het
Nlrp4b	T	A	7: 10,449,172 (GRCm39)	Y91*	probably null	Het
Osbp2	A	G	11: 3,655,593 (GRCm39)	Y383H	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Palb2	G	T	7: 121,727,636 (GRCm39)	T78K	probably benign	Het
Panx2	G	T	15: 88,944,433 (GRCm39)	V53L	probably damaging	Het
Pip4p1	T	C	14: 51,166,495 (GRCm39)	E161G	probably benign	Het
Pitx1	T	C	13: 55,973,892 (GRCm39)	Y313C	probably damaging	Het
Pjvk	A	G	2: 76,481,904 (GRCm39)		probably null	Het
Pnldc1	T	G	17: 13,109,283 (GRCm39)	K439T	probably benign	Het
Ppp4r4	A	C	12: 103,559,357 (GRCm39)	T513P	probably benign	Het
Pram1	A	T	17: 33,860,600 (GRCm39)	Q389L	probably damaging	Het
Prg4	T	C	1: 150,330,204 (GRCm39)		probably benign	Het
Prkch	C	A	12: 73,738,366 (GRCm39)	R158S	probably damaging	Het
Ptpn7	A	T	1: 135,070,906 (GRCm39)	M332L	probably damaging	Het
Rad51c	A	T	11: 87,288,459 (GRCm39)	D241E	probably benign	Het
Rara	T	G	11: 98,862,410 (GRCm39)	I270M	possibly damaging	Het
Ryr2	T	A	13: 11,571,544 (GRCm39)	D4898V	probably damaging	Het
Sec31b	C	T	19: 44,522,810 (GRCm39)	G218S	probably damaging	Het
Slc9a1	T	A	4: 133,149,382 (GRCm39)	L736Q	probably damaging	Het
Slco2a1	A	T	9: 102,945,213 (GRCm39)	D196V	probably damaging	Het
Sp3	C	A	2: 72,800,910 (GRCm39)	A368S	probably benign	Het
Stk24	A	T	14: 121,531,645 (GRCm39)	L337Q	possibly damaging	Het
Tbc1d13	A	G	2: 30,027,379 (GRCm39)	T96A	probably benign	Het
Urb2	T	C	8: 124,756,651 (GRCm39)	V786A	probably benign	Het
Usp32	C	T	11: 84,949,953 (GRCm39)		probably benign	Het
Usp54	C	T	14: 20,636,144 (GRCm39)	G300D	probably damaging	Het
Vmn1r124	T	A	7: 20,994,323 (GRCm39)	N74Y	probably damaging	Het
Vmn1r77	T	A	7: 11,775,952 (GRCm39)	C175S	probably damaging	Het
Vmn2r62	G	T	7: 42,437,219 (GRCm39)	Q422K	probably benign	Het
Vmn2r76	A	G	7: 85,874,496 (GRCm39)	F827S	probably damaging	Het
Vps52	A	G	17: 34,177,275 (GRCm39)	S106G	possibly damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zic2	A	G	14: 122,713,227 (GRCm39)	N47S	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
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
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'- GCTGAGTCCTTGCTCATCTTAG -3'
(R):5'- GCAAGCCAAGTACAGATGCTG -3'

Sequencing Primer
(F):5'- AGCAGTCTTCTTGCCTGTTG -3'
(R):5'- GCTGTACATTAAAAACATAAATCCCC -3'

Posted On

2016-08-04