Incidental Mutation 'R6222:Tmem181a'
| ID |
504109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem181a
|
| Ensembl Gene |
ENSMUSG00000038141 |
| Gene Name |
transmembrane protein 181A |
| Synonyms |
5930418K15Rik, C76977, Gpr178, Tmem181 |
| MMRRC Submission |
044353-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6222 (G1)
|
| Quality Score |
133.008 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
6307135-6358589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6351192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 367
(V367A)
|
| 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: V326A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000086333
Gene: ENSMUSG00000038141
AA Change: V326A
| 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 |
probably benign
Transcript: ENSMUST00000232383
AA Change: V367A
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
C |
14: 35,531,923 (GRCm39) |
*217W |
probably null |
Het |
| Abcc3 |
A |
G |
11: 94,259,431 (GRCm39) |
F337L |
probably benign |
Het |
| Abcc4 |
T |
A |
14: 118,767,368 (GRCm39) |
H903L |
probably damaging |
Het |
| Akap7 |
T |
A |
10: 25,159,844 (GRCm39) |
K119* |
probably null |
Het |
| Als2 |
T |
C |
1: 59,219,284 (GRCm39) |
D1222G |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,863,084 (GRCm39) |
Y296C |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,377,922 (GRCm39) |
|
probably null |
Het |
| Arl10 |
T |
C |
13: 54,726,644 (GRCm39) |
F141L |
probably damaging |
Het |
| B130006D01Rik |
T |
C |
11: 95,616,988 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,479,147 (GRCm39) |
S197T |
possibly damaging |
Het |
| Bicd1 |
A |
T |
6: 149,414,463 (GRCm39) |
D392V |
probably damaging |
Het |
| Bmi1 |
T |
A |
2: 18,688,513 (GRCm39) |
M168K |
possibly damaging |
Het |
| C7 |
A |
T |
15: 5,041,423 (GRCm39) |
D494E |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,032,360 (GRCm39) |
N1221I |
probably benign |
Het |
| Cacng7 |
A |
G |
7: 3,385,128 (GRCm39) |
T10A |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cdpf1 |
T |
C |
15: 85,691,643 (GRCm39) |
R108G |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,479,472 (GRCm39) |
K196N |
probably benign |
Het |
| Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,210,649 (GRCm39) |
I112T |
possibly damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,569,353 (GRCm39) |
S916G |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,454,569 (GRCm39) |
Y627* |
probably null |
Het |
| Fam204a |
A |
G |
19: 60,188,400 (GRCm39) |
|
probably null |
Het |
| Galnt1 |
T |
A |
18: 24,397,591 (GRCm39) |
|
probably null |
Het |
| Gbe1 |
T |
C |
16: 70,325,900 (GRCm39) |
|
probably null |
Het |
| Gm6871 |
C |
T |
7: 41,196,006 (GRCm39) |
D244N |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,347,880 (GRCm39) |
T189A |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,226,336 (GRCm39) |
D2446N |
possibly damaging |
Het |
| Ing2 |
T |
C |
8: 48,121,966 (GRCm39) |
K194R |
possibly damaging |
Het |
| Ino80d |
G |
A |
1: 63,097,684 (GRCm39) |
H737Y |
probably damaging |
Het |
| Izumo4 |
C |
T |
10: 80,538,885 (GRCm39) |
R83W |
probably damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,782,522 (GRCm39) |
V219M |
probably damaging |
Het |
| Kiz |
A |
T |
2: 146,732,981 (GRCm39) |
S386C |
probably damaging |
Het |
| Ldlrap1 |
C |
T |
4: 134,484,671 (GRCm39) |
E108K |
probably damaging |
Het |
| Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,327,047 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or4c100 |
T |
C |
2: 88,329,614 (GRCm39) |
Y62H |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,374,652 (GRCm39) |
K1828E |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,460,097 (GRCm39) |
F194L |
probably benign |
Het |
| Prss1l |
A |
T |
6: 41,374,100 (GRCm39) |
Y234F |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,404,357 (GRCm39) |
Q77L |
probably benign |
Het |
| Ruvbl2 |
G |
T |
7: 45,074,149 (GRCm39) |
D248E |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,798,070 (GRCm39) |
C20S |
probably benign |
Het |
| Sh2d4b |
A |
C |
14: 40,542,694 (GRCm39) |
S361A |
probably damaging |
Het |
| Snx2 |
T |
A |
18: 53,332,896 (GRCm39) |
L190* |
probably null |
Het |
| Sorcs3 |
A |
T |
19: 48,748,296 (GRCm39) |
Y755F |
possibly damaging |
Het |
| Styxl2 |
G |
T |
1: 165,926,214 (GRCm39) |
Q1133K |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,503,613 (GRCm39) |
Q930R |
probably damaging |
Het |
| Tll1 |
C |
A |
8: 64,551,568 (GRCm39) |
G271V |
probably benign |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,221,866 (GRCm39) |
|
probably null |
Het |
| Virma |
C |
T |
4: 11,527,820 (GRCm39) |
A1187V |
probably damaging |
Het |
| Wdr53 |
T |
C |
16: 32,075,482 (GRCm39) |
V229A |
probably benign |
Het |
| Zcchc10 |
T |
C |
11: 53,223,289 (GRCm39) |
|
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 |
|
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'- TGGGTTCTATTAGGCCAGGC -3'
(R):5'- GGGTTCTTTCAACACTGCTAATC -3'
Sequencing Primer
(F):5'- GTTCTATTAGGCCAGGCACCTG -3'
(R):5'- CAACACTGCTAATCCTTCTTGAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation