Incidental Mutation 'R5301:Tmem181a'
ID |
404268 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem181a
|
Ensembl Gene |
ENSMUSG00000038141 |
Gene Name |
transmembrane protein 181A |
Synonyms |
5930418K15Rik, C76977, Gpr178, Tmem181 |
MMRRC Submission |
042884-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5301 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
6307135-6358589 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6346070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 229
(I229T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156382
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088940]
[ENSMUST00000232383]
|
AlphaFold |
A0A338P7C9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088940
AA Change: I188T
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000086333 Gene: ENSMUSG00000038141 AA Change: I188T
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 |
possibly damaging
Transcript: ENSMUST00000232383
AA Change: I229T
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
Validation Efficiency |
93% (52/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,896,502 (GRCm39) |
V578A |
probably damaging |
Het |
Abcb11 |
T |
C |
2: 69,117,191 (GRCm39) |
I486V |
probably damaging |
Het |
Abcc9 |
G |
A |
6: 142,536,207 (GRCm39) |
T1509I |
probably benign |
Het |
Akr1c20 |
T |
A |
13: 4,573,279 (GRCm39) |
D12V |
probably damaging |
Het |
Asb1 |
A |
G |
1: 91,482,475 (GRCm39) |
Y66C |
probably damaging |
Het |
Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
Bcl10 |
A |
G |
3: 145,636,342 (GRCm39) |
D80G |
probably damaging |
Het |
Bdnf |
T |
C |
2: 109,553,884 (GRCm39) |
V46A |
probably benign |
Het |
Cyp11a1 |
A |
G |
9: 57,926,544 (GRCm39) |
|
probably benign |
Het |
Cyp3a44 |
A |
G |
5: 145,725,326 (GRCm39) |
S292P |
probably damaging |
Het |
Desi2 |
A |
G |
1: 178,071,952 (GRCm39) |
I85M |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,625,973 (GRCm39) |
D49G |
probably benign |
Het |
Epcam |
T |
A |
17: 87,944,305 (GRCm39) |
L20Q |
possibly damaging |
Het |
Ercc4 |
T |
C |
16: 12,948,550 (GRCm39) |
V589A |
probably damaging |
Het |
Fcgbp |
A |
T |
7: 27,793,099 (GRCm39) |
K1034N |
possibly damaging |
Het |
Fras1 |
C |
T |
5: 96,805,125 (GRCm39) |
L1256F |
possibly damaging |
Het |
Gata5 |
T |
C |
2: 179,975,786 (GRCm39) |
Y126C |
probably damaging |
Het |
Gja1 |
T |
C |
10: 56,264,475 (GRCm39) |
L278P |
probably damaging |
Het |
Gm11596 |
C |
A |
11: 99,683,847 (GRCm39) |
R91L |
unknown |
Het |
Gm29125 |
A |
T |
1: 80,362,154 (GRCm39) |
|
noncoding transcript |
Het |
Hcrtr1 |
G |
T |
4: 130,031,463 (GRCm39) |
|
probably null |
Het |
Ifi207 |
G |
A |
1: 173,556,977 (GRCm39) |
S587L |
possibly damaging |
Het |
Ino80d |
T |
C |
1: 63,113,578 (GRCm39) |
T291A |
probably benign |
Het |
Itgb3 |
A |
G |
11: 104,524,480 (GRCm39) |
|
probably null |
Het |
Kif26b |
A |
G |
1: 178,358,233 (GRCm39) |
S115G |
unknown |
Het |
Klc3 |
T |
C |
7: 19,130,274 (GRCm39) |
Y301C |
probably damaging |
Het |
Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
Meioc |
A |
T |
11: 102,570,871 (GRCm39) |
R867S |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Mthfd2 |
C |
A |
6: 83,287,465 (GRCm39) |
G200V |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,367,541 (GRCm39) |
I312T |
probably damaging |
Het |
Nrp1 |
T |
G |
8: 129,160,678 (GRCm39) |
|
probably null |
Het |
Obscn |
A |
G |
11: 59,026,234 (GRCm39) |
L323P |
probably damaging |
Het |
Or11g1 |
T |
C |
14: 50,651,030 (GRCm39) |
S10P |
probably benign |
Het |
Or1b1 |
C |
T |
2: 36,995,210 (GRCm39) |
V151M |
probably benign |
Het |
Or9i14 |
G |
A |
19: 13,792,933 (GRCm39) |
T7I |
probably damaging |
Het |
Pkn2 |
A |
C |
3: 142,544,967 (GRCm39) |
|
probably null |
Het |
Ppp1r18 |
A |
G |
17: 36,179,237 (GRCm39) |
R371G |
probably benign |
Het |
Prkar2b |
A |
C |
12: 32,025,927 (GRCm39) |
V31G |
probably damaging |
Het |
Reg3b |
T |
A |
6: 78,348,243 (GRCm39) |
M19K |
probably damaging |
Het |
Sec14l2 |
G |
A |
11: 4,068,727 (GRCm39) |
|
probably benign |
Het |
Sgca |
C |
T |
11: 94,854,157 (GRCm39) |
R104Q |
probably damaging |
Het |
Slc17a6 |
A |
G |
7: 51,308,519 (GRCm39) |
Y281C |
probably damaging |
Het |
Sorcs2 |
A |
G |
5: 36,196,734 (GRCm39) |
V637A |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 112,002,963 (GRCm39) |
|
probably null |
Het |
Tmpo |
A |
T |
10: 90,985,650 (GRCm39) |
|
probably benign |
Het |
Ttc41 |
T |
C |
10: 86,555,384 (GRCm39) |
V280A |
probably benign |
Het |
Vmn1r234 |
G |
T |
17: 21,449,589 (GRCm39) |
V168F |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,817,950 (GRCm39) |
I701N |
probably damaging |
Het |
Wnt16 |
T |
A |
6: 22,297,848 (GRCm39) |
M238K |
probably damaging |
Het |
Zfp607b |
A |
G |
7: 27,403,172 (GRCm39) |
T543A |
probably benign |
Het |
|
Other mutations in Tmem181a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02071:Tmem181a
|
APN |
17 |
6,347,531 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03027:Tmem181a
|
APN |
17 |
6,348,494 (GRCm39) |
missense |
probably damaging |
1.00 |
a_team
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
abraham
|
UTSW |
17 |
6,340,874 (GRCm39) |
missense |
probably benign |
0.03 |
PIT4651001:Tmem181a
|
UTSW |
17 |
6,351,170 (GRCm39) |
missense |
probably benign |
|
R1966:Tmem181a
|
UTSW |
17 |
6,353,501 (GRCm39) |
missense |
probably benign |
|
R2139:Tmem181a
|
UTSW |
17 |
6,348,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R2323:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R2324:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3001:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3002:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3003:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3034:Tmem181a
|
UTSW |
17 |
6,330,901 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3425:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3426:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3427:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3428:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3499:Tmem181a
|
UTSW |
17 |
6,330,894 (GRCm39) |
nonsense |
probably null |
|
R3683:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3893:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4226:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4227:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4428:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4429:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4430:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4465:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4466:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4467:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4496:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4728:Tmem181a
|
UTSW |
17 |
6,340,874 (GRCm39) |
missense |
probably benign |
0.03 |
R4822:Tmem181a
|
UTSW |
17 |
6,330,940 (GRCm39) |
missense |
probably benign |
0.00 |
R5991:Tmem181a
|
UTSW |
17 |
6,339,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R6052:Tmem181a
|
UTSW |
17 |
6,330,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R6222:Tmem181a
|
UTSW |
17 |
6,351,192 (GRCm39) |
missense |
probably benign |
0.29 |
R7131:Tmem181a
|
UTSW |
17 |
6,348,247 (GRCm39) |
missense |
probably damaging |
0.98 |
R7231:Tmem181a
|
UTSW |
17 |
6,348,195 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7374:Tmem181a
|
UTSW |
17 |
6,354,533 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7437:Tmem181a
|
UTSW |
17 |
6,353,540 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7592:Tmem181a
|
UTSW |
17 |
6,339,295 (GRCm39) |
missense |
probably benign |
0.00 |
R8175:Tmem181a
|
UTSW |
17 |
6,346,075 (GRCm39) |
missense |
probably benign |
0.00 |
R8327:Tmem181a
|
UTSW |
17 |
6,351,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R8385:Tmem181a
|
UTSW |
17 |
6,339,274 (GRCm39) |
missense |
probably benign |
0.10 |
R9144:Tmem181a
|
UTSW |
17 |
6,346,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9221:Tmem181a
|
UTSW |
17 |
6,307,265 (GRCm39) |
missense |
probably damaging |
0.99 |
R9327:Tmem181a
|
UTSW |
17 |
6,346,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
RF010:Tmem181a
|
UTSW |
17 |
6,330,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCATGGGAGAACTGTTTCTGG -3'
(R):5'- ACCAGTGGTCAGCAATGACTC -3'
Sequencing Primer
(F):5'- CCATGGGAGAACTGTTTCTGGTAGTC -3'
(R):5'- GTGGTCAGCAATGACTCTCACAC -3'
|
Posted On |
2016-07-22 |