Mutagenetix > Incidental Mutation

Incidental Mutation 'R2021:Tmem2'

224054

Institutional Source

Beutler Lab

Gene Symbol

Tmem2

Ensembl Gene

ENSMUSG00000024754

Gene Name

transmembrane protein 2

Synonyms

MMRRC Submission

040030-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R2021 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21778342-21858327 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21844750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 1170 (A1170T)

Ref Sequence

ENSEMBL: ENSMUSP00000093908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025663] [ENSMUST00000096194]

AlphaFold

Q5FWI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025663
AA Change: A1170T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: A1170T

Domain	Start	End	E-Value	Type
transmembrane domain	83	105	N/A	INTRINSIC
G8	121	245	1.89e-44	SMART
Pfam:ILEI	265	360	2.1e-24	PFAM
Blast:PbH1	587	609	1e-6	BLAST
low complexity region	621	633	N/A	INTRINSIC
PbH1	669	691	3.62e3	SMART
PbH1	711	733	1.84e3	SMART
PbH1	791	812	1.33e3	SMART
Pfam:ILEI	1243	1333	9e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096194
AA Change: A1170T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: A1170T

Domain	Start	End	E-Value	Type
transmembrane domain	83	105	N/A	INTRINSIC
G8	121	245	1.89e-44	SMART
Blast:PbH1	587	609	1e-6	BLAST
low complexity region	621	633	N/A	INTRINSIC
PbH1	669	691	3.62e3	SMART
PbH1	711	733	1.84e3	SMART
PbH1	791	812	1.33e3	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,931,451	S462P	probably damaging	Het
Ablim1	A	T	19: 57,047,018	S316T	probably damaging	Het
Alox8	C	T	11: 69,186,288	V460I	probably damaging	Het
Arvcf	G	A	16: 18,399,732	A491T	probably damaging	Het
Asnsd1	A	G	1: 53,347,227	S414P	possibly damaging	Het
Btbd7	A	G	12: 102,790,709	L706P	probably damaging	Het
Camk2d	T	A	3: 126,780,456	W171R	probably damaging	Het
Casc3	T	A	11: 98,821,506	S124T	probably benign	Het
Casp8ap2	T	C	4: 32,644,560	V1211A	probably benign	Het
Ccdc182	T	C	11: 88,294,136	V14A	possibly damaging	Het
Ccdc80	A	T	16: 45,122,912	Q795L	probably damaging	Het
Ccdc88a	T	G	11: 29,503,480	S1614R	probably damaging	Het
Clcn6	A	G	4: 148,010,652		probably null	Het
Cubn	A	G	2: 13,308,549	V3070A	probably benign	Het
Dst	G	A	1: 34,166,291	V1025I	possibly damaging	Het
Dusp27	A	T	1: 166,100,823	W407R	probably benign	Het
Elk3	T	A	10: 93,265,677	I71F	probably damaging	Het
Flt3	A	T	5: 147,369,490	I276N	probably damaging	Het
Frem1	G	T	4: 82,913,558	T1988K	probably benign	Het
Gm597	A	T	1: 28,778,153	V266D	probably damaging	Het
Golph3l	T	A	3: 95,617,357	D306E	probably benign	Het
Grk2	T	A	19: 4,290,670	I254F	probably damaging	Het
Hgf	C	T	5: 16,576,921	T214I	probably benign	Het
Hoxc5	C	A	15: 103,014,382		probably null	Het
Hsd11b1	T	C	1: 193,240,378	T124A	probably benign	Het
Ipp	A	G	4: 116,515,368	Y198C	probably benign	Het
Ism1	T	A	2: 139,740,127		probably null	Het
Klhl42	A	G	6: 147,091,896	Y122C	possibly damaging	Het
Klk1b21	A	T	7: 44,105,994	K206*	probably null	Het
Lcn11	A	G	2: 25,778,085	K85R	probably benign	Het
Macf1	G	T	4: 123,472,730	A2746E	probably damaging	Het
Matn4	A	G	2: 164,400,653	V175A	probably damaging	Het
Myh2	A	T	11: 67,191,719	N1372Y	probably damaging	Het
Ncl	A	G	1: 86,356,955		probably null	Het
Nudt2	A	G	4: 41,480,255	D46G	probably damaging	Het
Obscn	C	T	11: 59,067,174	D3567N	probably benign	Het
Olfr1245	A	T	2: 89,574,961	M255K	possibly damaging	Het
Olfr346	G	C	2: 36,688,475	V158L	probably benign	Het
Olfr373	G	T	8: 72,100,086	V109F	possibly damaging	Het
Pamr1	T	A	2: 102,634,535	M343K	probably benign	Het
Pcdh15	T	G	10: 74,631,193	S1684A	possibly damaging	Het
Ppm1h	T	A	10: 122,878,528	L324*	probably null	Het
Ppp3r2	T	C	4: 49,681,723	I76V	probably benign	Het
Prkdc	G	A	16: 15,677,009	V748I	probably benign	Het
Prss47	A	G	13: 65,051,777	V96A	probably benign	Het
Rsbn1	C	T	3: 103,914,473	T8I	probably benign	Het
Rsf1	GGCG	GGCGACGGCGGCG	7: 97,579,906		probably benign	Het
Serpinb3d	A	G	1: 107,078,452	V302A	probably benign	Het
Sfrp4	A	T	13: 19,632,326	I177F	probably benign	Het
Sh3bp2	A	G	5: 34,544,225		probably benign	Het
Slc7a12	A	G	3: 14,497,333	T257A	probably damaging	Het
Specc1l	T	C	10: 75,267,591		probably null	Het
Stard9	A	G	2: 120,704,235	T3658A	probably benign	Het
Tctex1d4	A	G	4: 117,128,307	E109G	possibly damaging	Het
Tmem30c	T	C	16: 57,281,362	T68A	probably damaging	Het
Tnr	A	G	1: 159,852,022	I189V	probably benign	Het
Trrap	A	G	5: 144,853,488	N3586S	possibly damaging	Het
Usp14	T	C	18: 10,024,632	T22A	probably damaging	Het
Vmn1r68	A	G	7: 10,527,991	L60P	probably damaging	Het
Vmn2r108	G	A	17: 20,470,990	H424Y	probably benign	Het
Wdr81	C	A	11: 75,445,962	E1534*	probably null	Het
Zc3h13	A	G	14: 75,330,195	E976G	probably damaging	Het
Zfp128	T	C	7: 12,890,029	L108P	possibly damaging	Het
Zfp644	T	C	5: 106,635,682	I1000V	possibly damaging	Het

Other mutations in Tmem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Tmem2	APN	19	21844757	missense	possibly damaging	0.77
IGL01528:Tmem2	APN	19	21835545	missense	possibly damaging	0.95
IGL01642:Tmem2	APN	19	21823901	missense	probably damaging	1.00
IGL01693:Tmem2	APN	19	21801887	missense	probably benign	0.00
IGL02437:Tmem2	APN	19	21811978	critical splice donor site	probably null
IGL02869:Tmem2	APN	19	21811877	missense	probably damaging	0.99
IGL02880:Tmem2	APN	19	21823843	missense	possibly damaging	0.68
IGL02904:Tmem2	APN	19	21823843	missense	possibly damaging	0.68
IGL02941:Tmem2	APN	19	21823843	missense	possibly damaging	0.68
IGL02950:Tmem2	APN	19	21842200	missense	probably benign	0.07
IGL03066:Tmem2	APN	19	21823843	missense	possibly damaging	0.68
IGL03120:Tmem2	APN	19	21823843	missense	possibly damaging	0.68
R0005:Tmem2	UTSW	19	21812220	missense	probably damaging	0.98
R0496:Tmem2	UTSW	19	21797345	missense	possibly damaging	0.89
R0557:Tmem2	UTSW	19	21811903	missense	probably benign	0.05
R0620:Tmem2	UTSW	19	21817971	missense	probably benign
R1271:Tmem2	UTSW	19	21823904	missense	possibly damaging	0.92
R1435:Tmem2	UTSW	19	21844706	missense	probably benign
R1543:Tmem2	UTSW	19	21812573	missense	probably benign	0.03
R1558:Tmem2	UTSW	19	21797982	nonsense	probably null
R1658:Tmem2	UTSW	19	21801879	missense	probably damaging	1.00
R1744:Tmem2	UTSW	19	21832137	nonsense	probably null
R1859:Tmem2	UTSW	19	21847977	missense	possibly damaging	0.56
R1943:Tmem2	UTSW	19	21848040	splice site	probably null
R2001:Tmem2	UTSW	19	21801987	missense	probably benign	0.43
R2177:Tmem2	UTSW	19	21811785	missense	possibly damaging	0.80
R2183:Tmem2	UTSW	19	21823793	missense	possibly damaging	0.81
R2921:Tmem2	UTSW	19	21817939	missense	possibly damaging	0.80
R2922:Tmem2	UTSW	19	21817939	missense	possibly damaging	0.80
R2923:Tmem2	UTSW	19	21817939	missense	possibly damaging	0.80
R3727:Tmem2	UTSW	19	21844711	missense	probably benign
R3730:Tmem2	UTSW	19	21826117	missense	probably damaging	0.97
R3790:Tmem2	UTSW	19	21807452	missense	probably damaging	1.00
R3831:Tmem2	UTSW	19	21847951	missense	probably damaging	0.97
R3858:Tmem2	UTSW	19	21852234	missense	probably benign	0.01
R3859:Tmem2	UTSW	19	21852234	missense	probably benign	0.01
R3899:Tmem2	UTSW	19	21852234	missense	probably benign	0.01
R4096:Tmem2	UTSW	19	21792652	start codon destroyed	probably null	0.99
R4206:Tmem2	UTSW	19	21842115	missense	probably damaging	1.00
R4480:Tmem2	UTSW	19	21815489	missense	probably benign	0.03
R4667:Tmem2	UTSW	19	21797351	missense	probably benign	0.00
R4667:Tmem2	UTSW	19	21844781	missense	probably benign
R4888:Tmem2	UTSW	19	21856164	missense	probably benign	0.00
R4914:Tmem2	UTSW	19	21809289	missense	probably benign	0.00
R5030:Tmem2	UTSW	19	21842105	missense	probably benign
R5329:Tmem2	UTSW	19	21798329	missense	probably benign	0.30
R5977:Tmem2	UTSW	19	21826083	missense	probably benign	0.01
R6013:Tmem2	UTSW	19	21832039	missense	possibly damaging	0.89
R6049:Tmem2	UTSW	19	21826126	missense	probably benign
R6199:Tmem2	UTSW	19	21844822	missense	probably benign	0.05
R6215:Tmem2	UTSW	19	21812387	missense	probably benign	0.02
R6273:Tmem2	UTSW	19	21802005	missense	probably damaging	1.00
R6429:Tmem2	UTSW	19	21801908	missense	probably benign	0.14
R6547:Tmem2	UTSW	19	21844831	missense	probably benign	0.01
R6630:Tmem2	UTSW	19	21852229	missense	probably damaging	0.99
R6870:Tmem2	UTSW	19	21832123	missense	possibly damaging	0.91
R7276:Tmem2	UTSW	19	21835460	missense	probably benign	0.14
R7336:Tmem2	UTSW	19	21826145	nonsense	probably null
R7363:Tmem2	UTSW	19	21856211	missense	probably benign
R7678:Tmem2	UTSW	19	21798116	missense	probably damaging	1.00
R7727:Tmem2	UTSW	19	21829957	missense	probably benign	0.00
R7820:Tmem2	UTSW	19	21807461	missense	probably damaging	0.98
R7837:Tmem2	UTSW	19	21798021	missense	probably benign	0.40
R7859:Tmem2	UTSW	19	21832175	missense	possibly damaging	0.95
R7954:Tmem2	UTSW	19	21792900	missense	probably damaging	1.00
R7964:Tmem2	UTSW	19	21798430	critical splice donor site	probably null
R8058:Tmem2	UTSW	19	21852331	missense	probably benign	0.12
R8251:Tmem2	UTSW	19	21807401	missense	possibly damaging	0.82
R8746:Tmem2	UTSW	19	21826101	missense	probably damaging	1.00
R8820:Tmem2	UTSW	19	21807454	missense	probably damaging	0.99
R8931:Tmem2	UTSW	19	21792959	missense	probably benign	0.01
R9022:Tmem2	UTSW	19	21812622	critical splice donor site	probably null
R9354:Tmem2	UTSW	19	21802025	missense	probably benign	0.00
R9480:Tmem2	UTSW	19	21798258	missense	possibly damaging	0.64
R9495:Tmem2	UTSW	19	21801885	missense	probably damaging	0.99
R9593:Tmem2	UTSW	19	21826089	missense	probably damaging	1.00
R9705:Tmem2	UTSW	19	21807424	missense	probably damaging	0.96
R9740:Tmem2	UTSW	19	21844741	missense	probably benign	0.00
Z1177:Tmem2	UTSW	19	21855729	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGCGAAATATCCCCTTGGC -3'
(R):5'- GCATGGATAGATGTTTCAAAGCC -3'

Sequencing Primer
(F):5'- CCCTTGGCCATGAATCAAGTTGAG -3'
(R):5'- GGATAGATGTTTCAAAGCCATGTGC -3'

Posted On

2014-08-25