Incidental Mutation 'R7374:Tmem181a'
ID |
572298 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem181a
|
Ensembl Gene |
ENSMUSG00000038141 |
Gene Name |
transmembrane protein 181A |
Synonyms |
5930418K15Rik, C76977, Gpr178, Tmem181 |
MMRRC Submission |
045457-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7374 (G1)
|
Quality Score |
208.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
6307135-6358589 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6354533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 401
(L401Q)
|
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: L401Q
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000086333 Gene: ENSMUSG00000038141 AA Change: L401Q
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: L442Q
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232499
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,242,136 (GRCm39) |
T1333I |
possibly damaging |
Het |
Abcd4 |
A |
T |
12: 84,653,017 (GRCm39) |
L395* |
probably null |
Het |
Cdh23 |
G |
A |
10: 60,153,679 (GRCm39) |
R2304W |
probably damaging |
Het |
Ckap2l |
T |
C |
2: 129,126,883 (GRCm39) |
T432A |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,276,731 (GRCm39) |
W2792R |
unknown |
Het |
Cyp2c68 |
T |
C |
19: 39,727,648 (GRCm39) |
|
probably null |
Het |
Ddx51 |
C |
A |
5: 110,804,998 (GRCm39) |
T580K |
probably damaging |
Het |
Fbxo44 |
T |
A |
4: 148,241,094 (GRCm39) |
D112V |
probably benign |
Het |
Ffar2 |
T |
C |
7: 30,519,465 (GRCm39) |
N25S |
probably damaging |
Het |
Gas6 |
A |
T |
8: 13,524,802 (GRCm39) |
V330D |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,027,959 (GRCm39) |
T22A |
probably benign |
Het |
Gm3371 |
A |
G |
14: 44,641,240 (GRCm39) |
V108A |
|
Het |
Gm8257 |
T |
C |
14: 44,887,740 (GRCm39) |
E215G |
probably benign |
Het |
Gria1 |
T |
A |
11: 57,080,634 (GRCm39) |
S206T |
probably benign |
Het |
Gria2 |
T |
C |
3: 80,648,383 (GRCm39) |
T118A |
probably benign |
Het |
Hfe |
T |
G |
13: 23,890,030 (GRCm39) |
T248P |
probably damaging |
Het |
Kdm5d |
T |
C |
Y: 941,491 (GRCm39) |
W1231R |
probably benign |
Het |
Ltbp2 |
C |
T |
12: 84,876,949 (GRCm39) |
D419N |
probably damaging |
Het |
Mei1 |
G |
A |
15: 81,980,109 (GRCm39) |
A232T |
|
Het |
Mgam |
G |
A |
6: 40,734,373 (GRCm39) |
E1473K |
possibly damaging |
Het |
Mtbp |
A |
C |
15: 55,426,355 (GRCm39) |
E99A |
possibly damaging |
Het |
Muc5b |
A |
T |
7: 141,416,863 (GRCm39) |
T3270S |
probably benign |
Het |
Myl2 |
A |
G |
5: 122,239,726 (GRCm39) |
Y28C |
|
Het |
Nrxn1 |
A |
G |
17: 90,896,097 (GRCm39) |
|
probably null |
Het |
Ntn4 |
A |
G |
10: 93,518,434 (GRCm39) |
H247R |
probably benign |
Het |
Numa1 |
T |
C |
7: 101,658,335 (GRCm39) |
V1568A |
probably benign |
Het |
Nyap1 |
C |
T |
5: 137,733,791 (GRCm39) |
G414D |
probably damaging |
Het |
Or5p68 |
A |
G |
7: 107,946,095 (GRCm39) |
F31S |
probably damaging |
Het |
Or8k25 |
C |
A |
2: 86,244,196 (GRCm39) |
A67S |
probably benign |
Het |
Pdgfrb |
G |
A |
18: 61,204,780 (GRCm39) |
V547I |
possibly damaging |
Het |
Pom121l12 |
A |
T |
11: 14,549,962 (GRCm39) |
M223L |
probably benign |
Het |
Prps1l1 |
T |
C |
12: 35,035,424 (GRCm39) |
S180P |
possibly damaging |
Het |
Ptprf |
A |
G |
4: 118,114,689 (GRCm39) |
S189P |
probably damaging |
Het |
Radil |
G |
A |
5: 142,471,235 (GRCm39) |
R1014W |
probably damaging |
Het |
Rfx5 |
C |
T |
3: 94,866,053 (GRCm39) |
P451S |
unknown |
Het |
Rhbdl2 |
G |
C |
4: 123,711,658 (GRCm39) |
V132L |
probably benign |
Het |
Slc15a2 |
G |
T |
16: 36,572,207 (GRCm39) |
T719K |
probably benign |
Het |
Slc9a9 |
A |
G |
9: 94,937,542 (GRCm39) |
T465A |
possibly damaging |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Sv2a |
A |
T |
3: 96,095,525 (GRCm39) |
Y306F |
probably benign |
Het |
Sv2c |
A |
T |
13: 96,125,644 (GRCm39) |
H364Q |
probably damaging |
Het |
Trav9d-4 |
A |
G |
14: 53,221,300 (GRCm39) |
Y98C |
probably damaging |
Het |
Trim33 |
T |
A |
3: 103,217,639 (GRCm39) |
C195S |
probably damaging |
Het |
Uroc1 |
T |
C |
6: 90,315,815 (GRCm39) |
Y191H |
probably damaging |
Het |
Usp9y |
T |
C |
Y: 1,381,305 (GRCm39) |
I839V |
probably benign |
Het |
Vmn1r52 |
A |
T |
6: 90,156,118 (GRCm39) |
I141F |
probably benign |
Het |
Vmn1r59 |
T |
C |
7: 5,457,160 (GRCm39) |
H200R |
probably damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,881,607 (GRCm39) |
M491K |
possibly damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,606,630 (GRCm39) |
I239V |
probably benign |
Het |
Wrn |
A |
C |
8: 33,758,939 (GRCm39) |
C1006W |
probably 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 |
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'- TGTCAGCAGACCTCAATCCC -3'
(R):5'- CAAACACCATTTAGCTGCCTTTTG -3'
Sequencing Primer
(F):5'- CTTCAGGAGTCAAAAACCTATATGGC -3'
(R):5'- AGCTGCCTTTTGCCTCTG -3'
|
Posted On |
2019-09-13 |