Mutagenetix > Incidental Mutation

Incidental Mutation 'R1690:Tmem202'

191720

Institutional Source

Beutler Lab

Gene Symbol

Tmem202

Ensembl Gene

ENSMUSG00000049526

Gene Name

transmembrane protein 202

Synonyms

4930425N13Rik

MMRRC Submission

039723-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R1690 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59425968-59447130 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59426391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 258 (R258S)

Ref Sequence

ENSEMBL: ENSMUSP00000053782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055345]

AlphaFold

Q80W35

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055345
AA Change: R258S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053782
Gene: ENSMUSG00000049526
AA Change: R258S

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	50	206	2.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214580

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,610,950 (GRCm39)	S263P	probably damaging	Het
Adcy10	A	G	1: 165,347,494 (GRCm39)	E403G	probably damaging	Het
Adgrg7	A	T	16: 56,615,993 (GRCm39)	V11E	probably damaging	Het
Arhgap35	A	G	7: 16,297,206 (GRCm39)	C620R	probably damaging	Het
Cfap43	A	G	19: 47,739,505 (GRCm39)		probably null	Het
Cfap54	A	G	10: 92,871,304 (GRCm39)	S639P	possibly damaging	Het
Csf2rb	T	C	15: 78,232,844 (GRCm39)	V717A	probably benign	Het
D17H6S53E	A	G	17: 35,346,188 (GRCm39)	D33G	possibly damaging	Het
Dpf2	C	T	19: 5,955,490 (GRCm39)	R131Q	probably damaging	Het
Dtx3l	C	T	16: 35,753,638 (GRCm39)	A323T	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgf15	A	G	7: 144,453,665 (GRCm39)	S213G	probably damaging	Het
Fmn1	T	A	2: 113,355,827 (GRCm39)	F756Y	unknown	Het
Hnrnpk	T	A	13: 58,548,168 (GRCm39)	T13S	probably benign	Het
Htr3b	T	A	9: 48,848,394 (GRCm39)	M284L	possibly damaging	Het
Itgal	T	C	7: 126,901,289 (GRCm39)	M225T	possibly damaging	Het
Lipi	A	G	16: 75,338,013 (GRCm39)	Y454H	probably damaging	Het
Lrit3	T	C	3: 129,594,394 (GRCm39)	K61R	probably damaging	Het
Lta4h	A	G	10: 93,320,554 (GRCm39)	D583G	probably benign	Het
Mettl17	T	A	14: 52,128,918 (GRCm39)	V396D	probably damaging	Het
Nlrc4	G	A	17: 74,744,518 (GRCm39)	R788*	probably null	Het
Or8k25	T	A	2: 86,244,298 (GRCm39)	I33F	probably benign	Het
Pepd	G	A	7: 34,730,782 (GRCm39)	G278D	probably damaging	Het
Pramel23	T	C	4: 143,424,693 (GRCm39)	E250G	probably benign	Het
Prkcsh	T	A	9: 21,921,871 (GRCm39)	D245E	probably damaging	Het
Prlr	A	T	15: 10,317,676 (GRCm39)	D84V	probably damaging	Het
Pth2r	C	T	1: 65,411,462 (GRCm39)	T333I	probably benign	Het
Ptk2	T	A	15: 73,134,459 (GRCm39)	I547F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,732 (GRCm39)	S162T	probably damaging	Het
Rnf41	C	A	10: 128,271,329 (GRCm39)	Q80K	possibly damaging	Het
Scn7a	T	G	2: 66,506,287 (GRCm39)	D1534A	probably damaging	Het
Septin12	A	G	16: 4,806,378 (GRCm39)	V261A	probably damaging	Het
Sh2d4a	T	C	8: 68,747,101 (GRCm39)	S110P	probably benign	Het
Soat1	A	T	1: 156,272,144 (GRCm39)	S114T	probably benign	Het
Taar8a	A	G	10: 23,952,813 (GRCm39)	Y139C	probably damaging	Het
Tcf12	A	G	9: 71,777,354 (GRCm39)		probably null	Het
Ttc39b	A	T	4: 83,145,414 (GRCm39)	I604N	probably damaging	Het
Vit	A	G	17: 78,932,294 (GRCm39)	D467G	probably damaging	Het
Zc3hc1	A	G	6: 30,390,940 (GRCm39)	V21A	probably damaging	Het
Zfp608	T	A	18: 55,120,706 (GRCm39)	I294F	possibly damaging	Het
Zfp825	T	A	13: 74,628,781 (GRCm39)	H227L	probably benign	Het

Other mutations in Tmem202

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03344:Tmem202	APN	9	59,426,351 (GRCm39)	missense	possibly damaging	0.53
R0011:Tmem202	UTSW	9	59,432,084 (GRCm39)	missense	probably benign	0.00
R0011:Tmem202	UTSW	9	59,432,084 (GRCm39)	missense	probably benign	0.00
R0711:Tmem202	UTSW	9	59,432,655 (GRCm39)	missense	probably damaging	0.99
R2127:Tmem202	UTSW	9	59,427,483 (GRCm39)	missense	probably benign	0.41
R4747:Tmem202	UTSW	9	59,426,477 (GRCm39)	missense	possibly damaging	0.47
R4998:Tmem202	UTSW	9	59,432,129 (GRCm39)	missense	probably damaging	0.99
R6916:Tmem202	UTSW	9	59,432,757 (GRCm39)	start gained	probably benign
R6929:Tmem202	UTSW	9	59,426,504 (GRCm39)	missense	probably benign	0.20
R8326:Tmem202	UTSW	9	59,426,500 (GRCm39)	missense	probably benign
R8537:Tmem202	UTSW	9	59,426,929 (GRCm39)	missense	probably benign	0.00
R9417:Tmem202	UTSW	9	59,431,999 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCACTCCAGAAGAGAACGCTGAC -3'
(R):5'- GTGTGGTGGGAAAGCATAGATTTGGTAA -3'

Sequencing Primer
(F):5'- agccgtttctccagccc -3'
(R):5'- aaagcatagatttggtaatcaaaagc -3'

Posted On

2014-05-14