Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01351:Tm2d2'

75374

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tm2d2

Ensembl Gene

ENSMUSG00000031556

Gene Name

TM2 domain containing 2

Synonyms

2410018G23Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01351

Quality Score

Status

Chromosome

Chromosomal Location

25507227-25513276 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 25510573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033961] [ENSMUST00000084031] [ENSMUST00000084032] [ENSMUST00000084035] [ENSMUST00000207132] [ENSMUST00000208247] [ENSMUST00000210536] [ENSMUST00000210758]

AlphaFold

Q8R0I4

Predicted Effect

probably benign
Transcript: ENSMUST00000033961

SMART Domains

Protein: ENSMUSP00000033961
Gene: ENSMUSG00000031556

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:TM2	145	194	1.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084031

SMART Domains

Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IB	37	112	5.44e-7	SMART
KAZAL	109	158	7.92e-4	SMART
Pfam:Trypsin	182	368	5.5e-15	PFAM
Pfam:Trypsin_2	208	346	2.1e-34	PFAM
PDZ	385	470	5.34e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084032

SMART Domains

Protein: ENSMUSP00000081045
Gene: ENSMUSG00000031555

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Pep_M12B_propep	43	163	8.5e-36	PFAM
Pfam:Reprolysin_5	210	386	5.5e-20	PFAM
Pfam:Reprolysin_4	210	402	1.4e-11	PFAM
Pfam:Reprolysin	212	406	1e-67	PFAM
Pfam:Reprolysin_2	232	396	1.1e-12	PFAM
Pfam:Reprolysin_3	236	358	8.1e-19	PFAM
DISIN	423	499	8.7e-44	SMART
ACR	500	637	9.7e-75	SMART
EGF	643	674	9.9e-2	SMART
transmembrane domain	699	718	N/A	INTRINSIC
low complexity region	753	787	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084035

SMART Domains

Protein: ENSMUSP00000081048
Gene: ENSMUSG00000031555

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Pep_M12B_propep	34	163	8.1e-31	PFAM
Pfam:Reprolysin_5	210	386	5.8e-22	PFAM
Pfam:Reprolysin_4	210	402	1.6e-13	PFAM
Pfam:Reprolysin	212	406	1.9e-73	PFAM
Pfam:Reprolysin_2	232	396	9.4e-15	PFAM
Pfam:Reprolysin_3	236	358	3.4e-19	PFAM
DISIN	423	499	1.71e-41	SMART
ACR	500	637	2.86e-72	SMART
EGF	643	674	2.03e1	SMART
transmembrane domain	699	718	N/A	INTRINSIC
low complexity region	753	794	N/A	INTRINSIC
low complexity region	808	826	N/A	INTRINSIC
low complexity region	831	839	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207132

Predicted Effect

probably benign
Transcript: ENSMUST00000208247

Predicted Effect

probably benign
Transcript: ENSMUST00000210536

Predicted Effect

probably benign
Transcript: ENSMUST00000210758

Coding Region Coverage

Validation Efficiency

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. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,217,565 (GRCm39)	S336P	probably benign	Het
Abca9	T	C	11: 110,039,729 (GRCm39)	Y428C	probably damaging	Het
Alpk1	T	C	3: 127,466,011 (GRCm39)	Q1165R	probably damaging	Het
Angel2	C	A	1: 190,665,310 (GRCm39)	N80K	probably benign	Het
Bmp6	T	C	13: 38,653,610 (GRCm39)	S226P	probably damaging	Het
Ccar2	T	C	14: 70,383,311 (GRCm39)	T229A	probably benign	Het
Cdh12	G	A	15: 21,237,989 (GRCm39)	V75M	probably damaging	Het
Cdh6	G	T	15: 13,034,326 (GRCm39)	A778E	possibly damaging	Het
Corin	A	T	5: 72,496,334 (GRCm39)	C540S	probably damaging	Het
Cyfip1	C	A	7: 55,547,991 (GRCm39)	Y530*	probably null	Het
Dock10	T	G	1: 80,570,876 (GRCm39)	K327N	probably damaging	Het
Dpy19l3	A	G	7: 35,426,840 (GRCm39)		probably benign	Het
E2f8	T	C	7: 48,516,899 (GRCm39)	T827A	probably benign	Het
Edem3	T	C	1: 151,668,136 (GRCm39)	V305A	possibly damaging	Het
Fam170a	T	C	18: 50,414,845 (GRCm39)	W164R	probably benign	Het
Fbxw14	T	C	9: 109,103,640 (GRCm39)	D24G	possibly damaging	Het
Gnmt	T	C	17: 47,037,606 (GRCm39)	D124G	probably benign	Het
Gpx5	T	C	13: 21,471,669 (GRCm39)	D178G	probably damaging	Het
Gsdmd	T	A	15: 75,736,186 (GRCm39)	I105N	probably damaging	Het
Hps5	C	T	7: 46,410,856 (GRCm39)	M1113I	probably damaging	Het
Hyal6	T	C	6: 24,734,178 (GRCm39)	F37S	probably damaging	Het
Il17c	C	T	8: 123,148,862 (GRCm39)	T2I	probably benign	Het
Lyz1	A	G	10: 117,127,093 (GRCm39)	C48R	probably damaging	Het
Or52e18	T	A	7: 104,609,946 (GRCm39)		probably benign	Het
Pafah1b3	G	A	7: 24,994,570 (GRCm39)	R215C	possibly damaging	Het
Psmb4	A	T	3: 94,793,538 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,373,944 (GRCm39)	V5009A	probably benign	Het
Sema6a	T	C	18: 47,414,369 (GRCm39)	K494E	possibly damaging	Het
Sfmbt1	T	C	14: 30,491,777 (GRCm39)	V17A	probably benign	Het
Speg	T	A	1: 75,387,920 (GRCm39)		probably benign	Het
Spint1	A	G	2: 119,076,936 (GRCm39)	D340G	probably damaging	Het
Tasor	A	G	14: 27,186,258 (GRCm39)	E819G	probably benign	Het
Tctn3	T	C	19: 40,596,081 (GRCm39)	I309V	probably benign	Het
Tex19.1	T	A	11: 121,038,072 (GRCm39)	D143E	probably damaging	Het
Tktl2	A	G	8: 66,965,548 (GRCm39)	I369V	probably benign	Het
Traf4	C	A	11: 78,056,226 (GRCm39)	R14L	possibly damaging	Het
Zfhx4	A	G	3: 5,466,196 (GRCm39)	Y2118C	probably damaging	Het
Zmynd15	C	A	11: 70,354,416 (GRCm39)	N425K	probably benign	Het

Other mutations in Tm2d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01768:Tm2d2	APN	8	25,508,095 (GRCm39)	missense	possibly damaging	0.69
IGL02238:Tm2d2	APN	8	25,512,787 (GRCm39)	missense	probably benign	0.00
BB003:Tm2d2	UTSW	8	25,510,480 (GRCm39)	missense	probably damaging	1.00
BB013:Tm2d2	UTSW	8	25,510,480 (GRCm39)	missense	probably damaging	1.00
R0420:Tm2d2	UTSW	8	25,508,130 (GRCm39)	missense	probably damaging	1.00
R0514:Tm2d2	UTSW	8	25,512,742 (GRCm39)	missense	possibly damaging	0.71
R0608:Tm2d2	UTSW	8	25,510,552 (GRCm39)	missense	probably benign	0.00
R2001:Tm2d2	UTSW	8	25,507,523 (GRCm39)	missense	probably benign	0.01
R2141:Tm2d2	UTSW	8	25,512,674 (GRCm39)	missense	probably damaging	0.96
R3754:Tm2d2	UTSW	8	25,510,494 (GRCm39)	missense	probably damaging	1.00
R5624:Tm2d2	UTSW	8	25,512,784 (GRCm39)	missense	probably damaging	1.00
R7651:Tm2d2	UTSW	8	25,507,316 (GRCm39)	start gained	probably benign
R7674:Tm2d2	UTSW	8	25,508,280 (GRCm39)	nonsense	probably null
R7926:Tm2d2	UTSW	8	25,510,480 (GRCm39)	missense	probably damaging	1.00
R8875:Tm2d2	UTSW	8	25,507,443 (GRCm39)	missense	possibly damaging	0.90
R9211:Tm2d2	UTSW	8	25,510,548 (GRCm39)	nonsense	probably null

Posted On

2013-10-07