Mutagenetix > Incidental Mutation

Incidental Mutation 'R4206:Tmem2'

318946

Institutional Source

Beutler Lab

Gene Symbol

Tmem2

Ensembl Gene

ENSMUSG00000024754

Gene Name

transmembrane protein 2

Synonyms

MMRRC Submission

041035-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.814) question?

Stock #

R4206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21778342-21858327 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 21842115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1090 (R1090L)

Ref Sequence

ENSEMBL: ENSMUSP00000093908 (fasta)

Gene Model

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

AlphaFold

Q5FWI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025663
AA Change: R1090L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: R1090L

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

probably damaging
Transcript: ENSMUST00000096194
AA Change: R1090L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: R1090L

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: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,473,515	K81R	probably benign	Het
Acacb	T	C	5: 114,213,651	F1150L	probably benign	Het
Acat3	A	G	17: 12,927,386	Y237H	possibly damaging	Het
Arfgap3	T	C	15: 83,322,668	T240A	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Cabin1	T	C	10: 75,754,841	S23G	possibly damaging	Het
Clasp1	A	G	1: 118,578,906	N949S	probably damaging	Het
Csrp1	T	G	1: 135,745,327	C61G	probably damaging	Het
Dgka	A	T	10: 128,721,195	L637Q	probably damaging	Het
Dst	G	A	1: 34,212,247	R1801H	probably damaging	Het
Edil3	T	C	13: 89,180,278	S284P	probably damaging	Het
Eif2d	A	G	1: 131,154,363	Y64C	probably damaging	Het
Ell2	A	G	13: 75,761,948	D139G	probably damaging	Het
Fam187a	A	G	11: 102,886,212	R281G	probably damaging	Het
Gin1	A	G	1: 97,792,420	D380G	possibly damaging	Het
Gpr149	T	G	3: 62,604,503	D25A	possibly damaging	Het
Gyg	A	G	3: 20,152,737	S90P	probably benign	Het
Hpx	C	T	7: 105,595,147	M190I	probably null	Het
Irf2bpl	C	T	12: 86,883,036	V288I	probably benign	Het
Lyst	A	G	13: 13,635,989	H748R	probably benign	Het
Mmrn1	G	A	6: 60,958,180	G220D	probably damaging	Het
Mpdz	A	T	4: 81,381,762	M333K	probably benign	Het
Muc5ac	C	T	7: 141,817,110	S2556F	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Ntsr1	A	G	2: 180,500,752	D112G	probably damaging	Het
Olfr1410	A	C	1: 92,608,595	T253P	possibly damaging	Het
Olfr657	T	A	7: 104,636,149	N158K	possibly damaging	Het
Olfr8	T	C	10: 78,955,283	F26S	probably benign	Het
Parg	A	G	14: 32,254,536	K178R	probably benign	Het
Pde8b	C	A	13: 95,222,545	C90F	probably benign	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Rad54l2	A	C	9: 106,717,795	V321G	probably damaging	Het
Rcn2	A	G	9: 56,045,207	Y112C	possibly damaging	Het
Rnf123	A	T	9: 108,063,963	D639E	probably benign	Het
Rufy2	C	T	10: 63,004,772	Q441*	probably null	Het
Scgb2b12	T	C	7: 32,326,638	Y43C	probably damaging	Het
Scrn3	T	A	2: 73,319,501		probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc22a8	T	C	19: 8,608,233	S321P	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Tex2	A	G	11: 106,567,572		probably benign	Het
Trip13	A	G	13: 73,932,890	I119T	probably benign	Het
Tsku	C	T	7: 98,352,998	R42H	probably damaging	Het
Ttn	A	G	2: 76,772,567	I16691T	possibly damaging	Het
Tyr	A	G	7: 87,429,068	L528P	possibly damaging	Het
Ubxn2b	T	C	4: 6,204,565	V142A	probably damaging	Het
Uggt2	C	T	14: 119,049,262	D221N	probably damaging	Het
Wnt4	A	G	4: 137,296,343	K207R	possibly damaging	Het
Zfp608	T	C	18: 54,988,195	R107G	probably 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
R2021:Tmem2	UTSW	19	21844750	missense	possibly damaging	0.91
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
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'- ACTAAAGAAGTGTATTAGGCTCGGG -3'
(R):5'- TCAGCATCCCAGGGTTCTAAG -3'

Sequencing Primer
(F):5'- TGTATTAGGCTCGGGACTCAAAAG -3'
(R):5'- AGCATCCCAGGGTTCTAAGCTATG -3'

Posted On

2015-06-10