Incidental Mutation 'R7592:Tmem181a'
ID |
587480 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem181a
|
Ensembl Gene |
ENSMUSG00000038141 |
Gene Name |
transmembrane protein 181A |
Synonyms |
5930418K15Rik, C76977, Gpr178, Tmem181 |
MMRRC Submission |
045639-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7592 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
6307135-6358589 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 6339295 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 68
(T68K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088940]
[ENSMUST00000232383]
|
AlphaFold |
A0A338P7C9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088940
AA Change: T68K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000086333 Gene: ENSMUSG00000038141 AA Change: T68K
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: ENSMUST00000232383
AA Change: T109K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (56/57) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,667,138 (GRCm39) |
T204A |
unknown |
Het |
Abca12 |
T |
C |
1: 71,327,836 (GRCm39) |
T1415A |
probably benign |
Het |
Adamtsl3 |
A |
G |
7: 81,986,459 (GRCm39) |
T24A |
probably benign |
Het |
Ankrd13b |
A |
C |
11: 77,367,327 (GRCm39) |
V194G |
probably benign |
Het |
Aurkc |
C |
T |
7: 7,003,006 (GRCm39) |
T167I |
probably benign |
Het |
Capn1 |
T |
C |
19: 6,064,469 (GRCm39) |
Y10C |
probably benign |
Het |
Ccnk |
T |
C |
12: 108,152,724 (GRCm39) |
S14P |
possibly damaging |
Het |
Cebpe |
T |
A |
14: 54,949,298 (GRCm39) |
I40F |
probably damaging |
Het |
Cers3 |
G |
A |
7: 66,439,377 (GRCm39) |
C296Y |
probably damaging |
Het |
Cog8 |
A |
T |
8: 107,776,861 (GRCm39) |
C505S |
possibly damaging |
Het |
Col4a3 |
A |
G |
1: 82,626,338 (GRCm39) |
I92V |
unknown |
Het |
Col5a3 |
T |
A |
9: 20,708,689 (GRCm39) |
H645L |
unknown |
Het |
Crispld1 |
A |
T |
1: 17,798,990 (GRCm39) |
E37V |
possibly damaging |
Het |
Csmd2 |
A |
G |
4: 128,357,591 (GRCm39) |
Y1684C |
|
Het |
Cstdc5 |
A |
T |
16: 36,187,862 (GRCm39) |
M1K |
probably null |
Het |
Dcst1 |
C |
A |
3: 89,260,599 (GRCm39) |
S555I |
probably benign |
Het |
Drc1 |
A |
G |
5: 30,499,060 (GRCm39) |
S70G |
possibly damaging |
Het |
Elavl2 |
A |
T |
4: 91,199,808 (GRCm39) |
|
probably null |
Het |
Emc1 |
A |
G |
4: 139,087,877 (GRCm39) |
H300R |
probably benign |
Het |
Gcnt4 |
G |
A |
13: 97,083,669 (GRCm39) |
V322I |
probably benign |
Het |
Gsg1l2 |
A |
G |
11: 67,665,584 (GRCm39) |
N51D |
probably benign |
Het |
Gucy2e |
A |
T |
11: 69,114,150 (GRCm39) |
|
probably null |
Het |
Hip1r |
A |
G |
5: 124,136,036 (GRCm39) |
E579G |
probably benign |
Het |
Hoxa4 |
T |
C |
6: 52,168,520 (GRCm39) |
H50R |
unknown |
Het |
Htr7 |
T |
C |
19: 36,034,292 (GRCm39) |
Y121C |
probably damaging |
Het |
Ift43 |
G |
A |
12: 86,207,964 (GRCm39) |
D111N |
probably damaging |
Het |
Itih3 |
A |
G |
14: 30,630,722 (GRCm39) |
V863A |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,304,686 (GRCm39) |
|
probably benign |
Het |
Mgat3 |
A |
G |
15: 80,095,193 (GRCm39) |
K7E |
probably damaging |
Het |
Ndst4 |
T |
A |
3: 125,364,436 (GRCm39) |
V371E |
probably damaging |
Het |
Npr1 |
T |
G |
3: 90,372,323 (GRCm39) |
D163A |
possibly damaging |
Het |
Nudt12 |
T |
C |
17: 59,313,589 (GRCm39) |
I330V |
probably benign |
Het |
Or2a20 |
T |
G |
6: 43,194,179 (GRCm39) |
C111G |
probably damaging |
Het |
Or4k2 |
T |
A |
14: 50,424,020 (GRCm39) |
Y219F |
probably damaging |
Het |
Or51l4 |
C |
A |
7: 103,404,279 (GRCm39) |
C171F |
probably damaging |
Het |
Or7g32 |
C |
A |
9: 19,389,128 (GRCm39) |
M139I |
possibly damaging |
Het |
Poc1a |
A |
T |
9: 106,226,967 (GRCm39) |
R402S |
probably benign |
Het |
Prex2 |
G |
T |
1: 11,193,437 (GRCm39) |
V470L |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,220,469 (GRCm39) |
E93G |
probably damaging |
Het |
Psma1 |
A |
T |
7: 113,868,961 (GRCm39) |
M180K |
probably benign |
Het |
Pudp |
A |
T |
18: 50,701,053 (GRCm39) |
F227I |
probably damaging |
Het |
Rab15 |
T |
A |
12: 76,851,223 (GRCm39) |
Q60L |
probably damaging |
Het |
Scaf8 |
T |
C |
17: 3,221,497 (GRCm39) |
|
probably null |
Het |
Septin9 |
T |
A |
11: 117,181,488 (GRCm39) |
I96N |
probably damaging |
Het |
Sez6 |
T |
C |
11: 77,868,876 (GRCm39) |
S976P |
probably damaging |
Het |
Slc2a12 |
A |
G |
10: 22,540,802 (GRCm39) |
Y219C |
probably damaging |
Het |
Slc38a9 |
T |
A |
13: 112,831,889 (GRCm39) |
I213K |
probably damaging |
Het |
Stil |
T |
A |
4: 114,881,005 (GRCm39) |
D516E |
probably benign |
Het |
Supt20 |
A |
G |
3: 54,614,543 (GRCm39) |
D184G |
probably damaging |
Het |
Tars3 |
G |
A |
7: 65,308,619 (GRCm39) |
S263N |
probably benign |
Het |
Trav21-dv12 |
G |
T |
14: 54,113,997 (GRCm39) |
C39F |
probably damaging |
Het |
Tshz1 |
T |
C |
18: 84,032,173 (GRCm39) |
E745G |
probably damaging |
Het |
Ugt1a8 |
T |
A |
1: 88,015,904 (GRCm39) |
F106I |
probably benign |
Het |
Vmn1r39 |
C |
A |
6: 66,781,428 (GRCm39) |
V297L |
probably benign |
Het |
Vmn2r101 |
G |
A |
17: 19,811,443 (GRCm39) |
|
probably null |
Het |
Vmn2r69 |
GAAAA |
GAAAAA |
7: 85,060,768 (GRCm39) |
|
probably null |
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 |
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'- TGCAAGAGAAAGCTGACCC -3'
(R):5'- TCAGGACGCGATGCTTTCTC -3'
Sequencing Primer
(F):5'- TGACCCAGCTCTGTCAGG -3'
(R):5'- GACGCATTTTTCTAATGTAAGGCG -3'
|
Posted On |
2019-10-24 |