Incidental Mutation 'R9144:Tmem181a'
| ID |
694523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem181a
|
| Ensembl Gene |
ENSMUSG00000038141 |
| Gene Name |
transmembrane protein 181A |
| Synonyms |
5930418K15Rik, C76977, Gpr178, Tmem181 |
| MMRRC Submission |
068935-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9144 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
6307135-6358589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6346048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 181
(V181M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088940]
[ENSMUST00000232383]
|
| AlphaFold |
A0A338P7C9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088940
AA Change: V181M
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000086333
Gene: ENSMUSG00000038141
AA Change: V181M
| 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 damaging
Transcript: ENSMUST00000232383
AA Change: V222M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
C |
T |
9: 44,192,708 (GRCm39) |
V176M |
possibly damaging |
Het |
| Acp5 |
T |
C |
9: 22,041,242 (GRCm39) |
T62A |
probably benign |
Het |
| Alad |
A |
T |
4: 62,430,257 (GRCm39) |
D88E |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,047,602 (GRCm39) |
I803T |
probably damaging |
Het |
| Bckdhb |
C |
A |
9: 83,894,662 (GRCm39) |
T312K |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,722,667 (GRCm39) |
V138A |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,978,512 (GRCm39) |
Y176C |
probably damaging |
Het |
| Creld1 |
A |
T |
6: 113,461,468 (GRCm39) |
T63S |
probably damaging |
Het |
| Dsc1 |
G |
A |
18: 20,218,639 (GRCm39) |
T878I |
possibly damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,018,463 (GRCm39) |
R873H |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,935,564 (GRCm39) |
V466A |
possibly damaging |
Het |
| Ercc5 |
T |
A |
1: 44,213,511 (GRCm39) |
Y836N |
probably damaging |
Het |
| Fgf20 |
T |
C |
8: 40,732,958 (GRCm39) |
D160G |
|
Het |
| Fgfr4 |
A |
T |
13: 55,315,837 (GRCm39) |
|
probably null |
Het |
| Fpr1 |
A |
T |
17: 18,097,626 (GRCm39) |
V121D |
probably damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,362,049 (GRCm39) |
K218E |
probably benign |
Het |
| Galnt12 |
T |
C |
4: 47,113,822 (GRCm39) |
L372P |
|
Het |
| Gldc |
A |
G |
19: 30,114,593 (GRCm39) |
F439S |
|
Het |
| Gm6465 |
A |
G |
5: 11,896,726 (GRCm39) |
T32A |
possibly damaging |
Het |
| Has2 |
T |
C |
15: 56,545,588 (GRCm39) |
R5G |
probably benign |
Het |
| Hexb |
T |
C |
13: 97,317,599 (GRCm39) |
Y366C |
probably damaging |
Het |
| Ier2 |
C |
T |
8: 85,389,266 (GRCm39) |
V39I |
probably benign |
Het |
| Ifi214 |
A |
G |
1: 173,355,434 (GRCm39) |
S125P |
possibly damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,700,451 (GRCm39) |
D230G |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,927,558 (GRCm39) |
Y140F |
probably benign |
Het |
| Klk1b11 |
T |
C |
7: 43,427,055 (GRCm39) |
V140A |
probably damaging |
Het |
| Klra5 |
C |
T |
6: 129,886,911 (GRCm39) |
C39Y |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,856,426 (GRCm39) |
I699M |
probably damaging |
Het |
| Mak |
C |
A |
13: 41,201,594 (GRCm39) |
E256* |
probably null |
Het |
| Mark3 |
C |
A |
12: 111,606,376 (GRCm39) |
N496K |
probably benign |
Het |
| Mex3c |
A |
G |
18: 73,723,397 (GRCm39) |
T497A |
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,467,805 (GRCm39) |
I1160V |
possibly damaging |
Het |
| Notch1 |
T |
C |
2: 26,349,587 (GRCm39) |
T2518A |
probably benign |
Het |
| Nsg1 |
A |
G |
5: 38,302,088 (GRCm39) |
Y108H |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,960,103 (GRCm39) |
S3255P |
possibly damaging |
Het |
| Or5w18 |
A |
G |
2: 87,633,482 (GRCm39) |
T246A |
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,162,496 (GRCm39) |
V1339A |
possibly damaging |
Het |
| Ppp2r5e |
C |
T |
12: 75,506,468 (GRCm39) |
R433H |
possibly damaging |
Het |
| Pwwp2a |
T |
A |
11: 43,596,721 (GRCm39) |
C629S |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,473 (GRCm39) |
S56R |
probably benign |
Het |
| Rhob |
A |
G |
12: 8,549,124 (GRCm39) |
V170A |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,003,900 (GRCm39) |
N1803K |
probably benign |
Het |
| Rmdn3 |
G |
T |
2: 118,969,847 (GRCm39) |
Q405K |
probably benign |
Het |
| Rpap3 |
G |
A |
15: 97,589,184 (GRCm39) |
T250M |
possibly damaging |
Het |
| Rraga |
T |
C |
4: 86,494,796 (GRCm39) |
I214T |
probably damaging |
Het |
| Rundc3a |
A |
T |
11: 102,290,862 (GRCm39) |
Q315L |
probably benign |
Het |
| Sh3bgr |
T |
A |
16: 96,001,931 (GRCm39) |
S10T |
probably benign |
Het |
| Skint6 |
A |
T |
4: 112,985,102 (GRCm39) |
S421R |
possibly damaging |
Het |
| Spag16 |
G |
C |
1: 70,420,459 (GRCm39) |
L482F |
probably damaging |
Het |
| Sppl2a |
A |
G |
2: 126,769,743 (GRCm39) |
S38P |
probably benign |
Het |
| Tex14 |
T |
A |
11: 87,413,423 (GRCm39) |
|
probably null |
Het |
| Traf3 |
T |
A |
12: 111,228,294 (GRCm39) |
S502T |
probably benign |
Het |
| Trav9n-4 |
T |
G |
14: 53,532,236 (GRCm39) |
V30G |
probably damaging |
Het |
| Trpm2 |
C |
A |
10: 77,765,122 (GRCm39) |
V960L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,173,649 (GRCm39) |
D1492E |
unknown |
Het |
| Usp44 |
A |
G |
10: 93,681,645 (GRCm39) |
T32A |
probably benign |
Het |
| Vmn1r38 |
A |
G |
6: 66,753,612 (GRCm39) |
M168T |
probably benign |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,788 (GRCm39) |
I288V |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,676,794 (GRCm39) |
T2615A |
possibly damaging |
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 |
|
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 |
|
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'- ACCATGGGAGAACTGTTTCTGG -3'
(R):5'- AGTGGTCAGCAATGACTCTCAC -3'
Sequencing Primer
(F):5'- CCATGGGAGAACTGTTTCTGGTAGTC -3'
(R):5'- TGGTCAGCAATGACTCTCACACTAC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation