Mutagenetix > Incidental Mutation

Incidental Mutation 'R2323:Tmem181a'

244822

Institutional Source

Beutler Lab

Gene Symbol

Tmem181a

Ensembl Gene

ENSMUSG00000038141

Gene Name

transmembrane protein 181A

Synonyms

Tmem181, 5930418K15Rik, Gpr178, C76977

MMRRC Submission

040314-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6256860-6308314 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6295786 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 185 (L185H)

Ref Sequence

ENSEMBL: ENSMUSP00000086333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088940] [ENSMUST00000232383]

AlphaFold

A0A338P7C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000088940
AA Change: L185H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000086333
Gene: ENSMUSG00000038141
AA Change: L185H

Domain	Start	End	E-Value	Type
transmembrane domain	17	36	N/A	INTRINSIC
Pfam:MIG-14_Wnt-bd	127	422	1e-100	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231593

Predicted Effect

probably damaging
Transcript: ENSMUST00000232383
AA Change: L226H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.2866

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The TMEM181 gene encodes a putative G protein-coupled receptor expressed on the cell surface (Carette et al., 2009 [PubMed 19965467]; Wollscheid et al., 2009 [PubMed 19349973]).[supplied by OMIM, Jan 2010]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	T	A	5: 90,584,852	Y507*	probably null	Het
Abca2	G	T	2: 25,445,175	M2008I	probably benign	Het
Adgrv1	A	G	13: 81,595,179	S68P	probably damaging	Het
Anks3	T	C	16: 4,950,770		probably null	Het
Asap2	T	C	12: 21,203,968	I160T	probably damaging	Het
Asb15	T	A	6: 24,556,601	F32I	probably benign	Het
Catip	A	T	1: 74,363,278	M103L	probably benign	Het
Cela2a	G	C	4: 141,826,079		probably benign	Het
Crebrf	T	C	17: 26,763,607		probably benign	Het
Dnah10	T	C	5: 124,742,000	M450T	probably damaging	Het
Dst	T	C	1: 34,228,437	S5165P	possibly damaging	Het
Esrp2	T	A	8: 106,134,302	D196V	probably benign	Het
Hmox2	A	T	16: 4,765,856	K263*	probably null	Het
Ints10	A	G	8: 68,819,345	H566R	probably benign	Het
Ints12	G	A	3: 133,109,365	M444I	possibly damaging	Het
Liph	A	G	16: 21,984,004	V105A	probably damaging	Het
Myo1e	T	A	9: 70,378,758	Y941*	probably null	Het
Myo7b	T	C	18: 31,971,345	E1450G	probably damaging	Het
Myt1	G	T	2: 181,806,557	A594S	probably damaging	Het
Npas3	T	A	12: 54,068,346	Y666N	probably damaging	Het
Npsr1	A	G	9: 24,300,436	K240E	probably damaging	Het
Olfr652	T	C	7: 104,564,619	F133L	probably benign	Het
Rtkn2	A	G	10: 68,001,934	I102M	probably damaging	Het
Rundc1	T	C	11: 101,425,275	F58L	probably damaging	Het
Snrpc	T	G	17: 27,847,974	M91R	unknown	Het
Tgfbr2	T	C	9: 116,110,144	K205R	possibly damaging	Het
Tnfrsf21	C	A	17: 43,085,529	S568*	probably null	Het
Tulp1	C	T	17: 28,362,482	G239D	probably damaging	Het
Vmn1r234	T	C	17: 21,229,703	I293T	probably benign	Het
Vmn1r26	T	C	6: 58,008,857	K116E	probably damaging	Het
Vmn2r98	T	A	17: 19,065,819	I193K	probably benign	Het
Wnk4	T	A	11: 101,268,481	S575T	probably damaging	Het
Zfp558	A	T	9: 18,469,277		probably null	Het
Zscan18	T	C	7: 12,775,459		probably benign	Het

Other mutations in Tmem181a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02071:Tmem181a	APN	17	6297256	missense	probably damaging	1.00
IGL03027:Tmem181a	APN	17	6298219	missense	probably damaging	1.00
a_team	UTSW	17	6295786	missense	probably damaging	0.99
abraham	UTSW	17	6290599	missense	probably benign	0.03
PIT4651001:Tmem181a	UTSW	17	6300895	missense	probably benign
R1966:Tmem181a	UTSW	17	6303226	missense	probably benign
R2139:Tmem181a	UTSW	17	6298206	missense	probably damaging	1.00
R2324:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R3001:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R3002:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R3003:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R3034:Tmem181a	UTSW	17	6280626	missense	possibly damaging	0.50
R3425:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R3426:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R3427:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R3428:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R3499:Tmem181a	UTSW	17	6280619	nonsense	probably null
R3683:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R3893:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R4226:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R4227:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R4428:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R4429:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R4430:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R4465:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R4466:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R4467:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R4496:Tmem181a	UTSW	17	6295786	missense	probably damaging	0.99
R4728:Tmem181a	UTSW	17	6290599	missense	probably benign	0.03
R4822:Tmem181a	UTSW	17	6280665	missense	probably benign	0.00
R5301:Tmem181a	UTSW	17	6295795	missense	possibly damaging	0.52
R5991:Tmem181a	UTSW	17	6289037	missense	probably damaging	1.00
R6052:Tmem181a	UTSW	17	6280615	missense	probably damaging	1.00
R6222:Tmem181a	UTSW	17	6300917	missense	probably benign	0.29
R7131:Tmem181a	UTSW	17	6297972	missense	probably damaging	0.98
R7231:Tmem181a	UTSW	17	6297920	missense	possibly damaging	0.81
R7374:Tmem181a	UTSW	17	6304258	missense	possibly damaging	0.85
R7437:Tmem181a	UTSW	17	6303265	missense	possibly damaging	0.70
R7592:Tmem181a	UTSW	17	6289020	missense	probably benign	0.00
R8175:Tmem181a	UTSW	17	6295800	missense	probably benign	0.00
R8327:Tmem181a	UTSW	17	6301405	missense	probably damaging	1.00
R8385:Tmem181a	UTSW	17	6288999	missense	probably benign	0.10
R9144:Tmem181a	UTSW	17	6295773	missense	possibly damaging	0.94
R9221:Tmem181a	UTSW	17	6256990	missense	probably damaging	0.99
R9327:Tmem181a	UTSW	17	6295773	missense	possibly damaging	0.94
RF010:Tmem181a	UTSW	17	6280703	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCATGGGAGAACTGTTTCTGG -3'
(R):5'- TGGTCAGCAATGACTCTCACAC -3'

Sequencing Primer
(F):5'- CCATGGGAGAACTGTTTCTGGTAGTC -3'
(R):5'- TGACTCTCACACTACACAGGAGAGAG -3'

Posted On

2014-10-30