Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01768:Tm2d2'

153980

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 #

IGL01768

Quality Score

Status

Chromosome

Chromosomal Location

25507227-25513276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25508095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 80 (V80L)

Ref Sequence

ENSEMBL: ENSMUSP00000148091 (fasta)

Gene Model

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

AlphaFold

Q8R0I4

Predicted Effect

probably benign
Transcript: ENSMUST00000033961
AA Change: V80L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000033961
Gene: ENSMUSG00000031556
AA Change: V80L

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: 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

possibly damaging
Transcript: ENSMUST00000210758
AA Change: V80L

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aifm3	T	C	16: 17,324,141 (GRCm39)	V567A	possibly damaging	Het
Arnt	T	C	3: 95,398,327 (GRCm39)		probably benign	Het
C8b	G	A	4: 104,644,151 (GRCm39)	E273K	probably benign	Het
Capn5	C	T	7: 97,774,480 (GRCm39)	R570H	probably damaging	Het
Cdh9	A	T	15: 16,778,311 (GRCm39)	D42V	possibly damaging	Het
Cdk17	T	C	10: 93,044,123 (GRCm39)	S21P	probably damaging	Het
Cdkl3	T	A	11: 51,916,744 (GRCm39)	F291I	probably damaging	Het
Cfap210	A	T	2: 69,612,471 (GRCm39)		probably benign	Het
Clmn	T	C	12: 104,747,978 (GRCm39)	E523G	probably damaging	Het
Cyp4f14	A	T	17: 33,126,976 (GRCm39)	I318N	probably damaging	Het
Daam1	T	A	12: 72,036,659 (GRCm39)	F1068L	probably benign	Het
Ext2	A	G	2: 93,621,455 (GRCm39)		probably benign	Het
F5	T	A	1: 164,003,914 (GRCm39)	F236L	probably benign	Het
Fat2	A	G	11: 55,153,394 (GRCm39)	V3606A	probably damaging	Het
Gpam	G	A	19: 55,075,952 (GRCm39)	T220M	probably benign	Het
Hyal1	C	A	9: 107,456,338 (GRCm39)	L342I	probably damaging	Het
Ilvbl	C	A	10: 78,419,127 (GRCm39)	P459T	possibly damaging	Het
Itga5	A	G	15: 103,259,997 (GRCm39)	Y632H	probably benign	Het
Jkampl	A	T	6: 73,445,899 (GRCm39)	L217M	possibly damaging	Het
Krt73	T	C	15: 101,707,291 (GRCm39)	D299G	probably benign	Het
Lcp1	T	C	14: 75,461,573 (GRCm39)	V522A	probably benign	Het
Lmo3	A	G	6: 138,393,495 (GRCm39)	C53R	probably damaging	Het
Nsun7	T	C	5: 66,436,043 (GRCm39)	V305A	probably benign	Het
Oprm1	T	C	10: 6,779,186 (GRCm39)	S196P	probably damaging	Het
Or2y1e	G	A	11: 49,218,958 (GRCm39)	C240Y	probably damaging	Het
Or4z4	A	T	19: 12,076,403 (GRCm39)	I200N	probably damaging	Het
Or7e168	G	A	9: 19,720,456 (GRCm39)	V281M	possibly damaging	Het
Ovgp1	T	C	3: 105,888,667 (GRCm39)		probably null	Het
Pcdhb20	T	C	18: 37,639,768 (GRCm39)	F765L	possibly damaging	Het
Ppp4r4	T	C	12: 103,547,664 (GRCm39)	V3A	probably benign	Het
Ruvbl1	A	G	6: 88,474,253 (GRCm39)	I419V	probably benign	Het
Scara5	T	A	14: 65,927,224 (GRCm39)	C40*	probably null	Het
Siglec1	T	C	2: 130,916,314 (GRCm39)	Q1212R	probably benign	Het
Slc31a1	G	A	4: 62,306,273 (GRCm39)		probably null	Het
Sparc	G	T	11: 55,296,069 (GRCm39)	N87K	probably damaging	Het
Tcf12	T	C	9: 71,776,278 (GRCm39)		probably null	Het
Timm44	A	T	8: 4,316,860 (GRCm39)	F258I	probably benign	Het
Tpr	A	G	1: 150,320,199 (GRCm39)	D2249G	possibly damaging	Het
Trim50	G	T	5: 135,392,736 (GRCm39)	G217V	possibly damaging	Het
Ugcg	T	C	4: 59,217,216 (GRCm39)		probably null	Het
Vmn2r107	A	T	17: 20,565,868 (GRCm39)	H61L	probably benign	Het
Zfp84	A	G	7: 29,476,091 (GRCm39)	H261R	probably benign	Het
Zswim2	A	T	2: 83,748,301 (GRCm39)	M293K	probably benign	Het

Other mutations in Tm2d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Tm2d2	APN	8	25,510,573 (GRCm39)	splice site	probably benign
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

2014-02-04