Incidental Mutation 'R7437:Tmem181a'
| ID |
576691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem181a
|
| Ensembl Gene |
ENSMUSG00000038141 |
| Gene Name |
transmembrane protein 181A |
| Synonyms |
5930418K15Rik, C76977, Gpr178, Tmem181 |
| MMRRC Submission |
045513-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
6307135-6358589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6353540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 384
(D384G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088940]
[ENSMUST00000169415]
[ENSMUST00000232383]
[ENSMUST00000232499]
|
| AlphaFold |
A0A338P7C9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088940
AA Change: D384G
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000086333
Gene: ENSMUSG00000038141
AA Change: D384G
| 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 |
probably benign
Transcript: ENSMUST00000169415
|
| SMART Domains |
Protein: ENSMUSP00000127990
Gene: ENSMUSG00000092074
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tctex-1
|
16 |
112 |
5.4e-36 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232383
AA Change: D425G
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232499
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
T |
17: 24,619,472 (GRCm39) |
I1192F |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,941,790 (GRCm39) |
S1160P |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,979,721 (GRCm39) |
I297V |
probably damaging |
Het |
| Aebp1 |
T |
A |
11: 5,819,757 (GRCm39) |
F687L |
possibly damaging |
Het |
| Ahsa1 |
A |
G |
12: 87,314,930 (GRCm39) |
T28A |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,842,618 (GRCm39) |
K412N |
probably damaging |
Het |
| Atl1 |
A |
G |
12: 69,978,396 (GRCm39) |
I123V |
probably benign |
Het |
| Atp10a |
G |
A |
7: 58,308,288 (GRCm39) |
R29H |
unknown |
Het |
| C4b |
T |
C |
17: 34,953,707 (GRCm39) |
D967G |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,795,429 (GRCm39) |
N416S |
probably damaging |
Het |
| Ccna2 |
T |
C |
3: 36,625,239 (GRCm39) |
|
probably benign |
Het |
| Cep70 |
T |
C |
9: 99,173,582 (GRCm39) |
L371P |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,230,753 (GRCm39) |
C958* |
probably null |
Het |
| Crlf2 |
T |
C |
5: 109,702,839 (GRCm39) |
D318G |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,658,072 (GRCm39) |
N14D |
probably benign |
Het |
| Dars1 |
A |
G |
1: 128,299,941 (GRCm39) |
Y348H |
possibly damaging |
Het |
| Dnah2 |
T |
C |
11: 69,389,453 (GRCm39) |
E813G |
probably damaging |
Het |
| Ebi3 |
T |
A |
17: 56,261,410 (GRCm39) |
M102K |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,066,493 (GRCm39) |
D2131G |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,840,775 (GRCm39) |
L1823H |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,583,569 (GRCm39) |
M309T |
probably benign |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ino80 |
A |
G |
2: 119,273,067 (GRCm39) |
S470P |
possibly damaging |
Het |
| Kcnh5 |
C |
T |
12: 75,184,417 (GRCm39) |
|
probably null |
Het |
| Kif24 |
T |
C |
4: 41,404,687 (GRCm39) |
T438A |
possibly damaging |
Het |
| Kndc1 |
G |
A |
7: 139,488,959 (GRCm39) |
G205R |
probably damaging |
Het |
| Lrp1b |
G |
T |
2: 40,712,658 (GRCm39) |
D3225E |
|
Het |
| Lrp1b |
A |
T |
2: 40,712,657 (GRCm39) |
Y3226N |
|
Het |
| Megf10 |
G |
C |
18: 57,395,203 (GRCm39) |
G522R |
probably damaging |
Het |
| Nectin2 |
A |
T |
7: 19,483,193 (GRCm39) |
L12* |
probably null |
Het |
| Ngef |
A |
T |
1: 87,408,327 (GRCm39) |
M580K |
probably damaging |
Het |
| Oga |
A |
T |
19: 45,767,046 (GRCm39) |
M110K |
possibly damaging |
Het |
| Or10ag56 |
A |
G |
2: 87,139,687 (GRCm39) |
M205V |
probably benign |
Het |
| Or1e1c |
A |
G |
11: 73,265,844 (GRCm39) |
S93G |
probably benign |
Het |
| Or5an1b |
T |
C |
19: 12,299,472 (GRCm39) |
N240D |
probably damaging |
Het |
| Pcdhb13 |
T |
C |
18: 37,577,728 (GRCm39) |
L702P |
probably damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,145 (GRCm39) |
I312V |
probably benign |
Het |
| Pglyrp3 |
A |
G |
3: 91,937,985 (GRCm39) |
N265D |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,757,421 (GRCm39) |
V1539A |
probably damaging |
Het |
| Prxl2b |
C |
A |
4: 154,981,053 (GRCm39) |
C194F |
possibly damaging |
Het |
| Rcn2 |
T |
C |
9: 55,965,353 (GRCm39) |
L274P |
probably damaging |
Het |
| Rpp30 |
A |
G |
19: 36,081,838 (GRCm39) |
E267G |
possibly damaging |
Het |
| Rundc3a |
A |
G |
11: 102,289,230 (GRCm39) |
M134V |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,146,004 (GRCm39) |
Q343L |
possibly damaging |
Het |
| Serpinb3c |
A |
T |
1: 107,199,444 (GRCm39) |
F359Y |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 95,110,994 (GRCm39) |
L604P |
probably benign |
Het |
| Strn3 |
A |
T |
12: 51,656,946 (GRCm39) |
H777Q |
probably damaging |
Het |
| Tap1 |
G |
A |
17: 34,409,616 (GRCm39) |
W284* |
probably null |
Het |
| Tlcd5 |
C |
T |
9: 43,023,080 (GRCm39) |
W91* |
probably null |
Het |
| Txndc12 |
T |
C |
4: 108,713,368 (GRCm39) |
S77P |
probably damaging |
Het |
| Wnt16 |
G |
A |
6: 22,288,560 (GRCm39) |
V19M |
probably benign |
Het |
| Zfp932 |
T |
A |
5: 110,157,880 (GRCm39) |
M526K |
probably benign |
Het |
| Zfp959 |
G |
T |
17: 56,205,334 (GRCm39) |
C457F |
probably damaging |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,346,863 (GRCm39) |
S300P |
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 |
|
R5301:Tmem181a
|
UTSW |
17 |
6,346,070 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
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 |
|
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'- TCAAGGGGAAGCCACTGTTG -3'
(R):5'- AGGACGGATGAAACTCACCC -3'
Sequencing Primer
(F):5'- GCTGGACTATGTTCTAAGACACAAC -3'
(R):5'- TTCCCAGGGCCAACAGGAAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation