Incidental Mutation 'R3003:Tmem181a'
ID 257378
Institutional Source Beutler Lab
Gene Symbol Tmem181a
Ensembl Gene ENSMUSG00000038141
Gene Name transmembrane protein 181A
Synonyms 5930418K15Rik, C76977, Gpr178, Tmem181
MMRRC Submission 040532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3003 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 6307135-6358589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6346061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 185 (L185H)
Ref Sequence ENSEMBL: ENSMUSP00000086333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088940] [ENSMUST00000232383]
AlphaFold A0A338P7C9
Predicted Effect probably damaging
Transcript: ENSMUST00000088940
AA Change: L185H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086333
Gene: ENSMUSG00000038141
AA Change: L185H

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000232383
AA Change: L226H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.2866 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T C 16: 14,254,393 (GRCm39) V568A probably damaging Het
Acd C T 8: 106,426,913 (GRCm39) probably null Het
Acly T C 11: 100,395,053 (GRCm39) K469E possibly damaging Het
Adh6b G T 3: 138,063,532 (GRCm39) L248F possibly damaging Het
Atg9b G T 5: 24,596,217 (GRCm39) D192E probably damaging Het
Ccdc180 A G 4: 45,899,988 (GRCm39) D182G probably benign Het
Cep112 A G 11: 108,331,329 (GRCm39) E178G probably damaging Het
Clptm1l C T 13: 73,765,875 (GRCm39) T471I possibly damaging Het
Csmd1 A G 8: 16,246,184 (GRCm39) F1072L probably damaging Het
Eprs1 T C 1: 185,156,588 (GRCm39) probably null Het
Il27ra G T 8: 84,758,660 (GRCm39) S499* probably null Het
Klk1b11 T C 7: 43,426,419 (GRCm39) I51T probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Mprip A G 11: 59,618,381 (GRCm39) T91A possibly damaging Het
Pfpl T C 19: 12,407,690 (GRCm39) I647T possibly damaging Het
Plxnc1 A T 10: 94,629,080 (GRCm39) F1565I probably damaging Het
Prr5 G T 15: 84,656,031 (GRCm39) C344F probably damaging Het
Rnf17 T C 14: 56,738,004 (GRCm39) W1262R probably damaging Het
Rptor G A 11: 119,763,197 (GRCm39) R927Q possibly damaging Het
Slitrk5 A G 14: 111,917,014 (GRCm39) K213E probably damaging Het
Smarcd1 C A 15: 99,610,065 (GRCm39) P432Q probably damaging Het
Stat4 A G 1: 52,142,145 (GRCm39) D664G probably damaging Het
Suz12 T A 11: 79,910,587 (GRCm39) W313R probably damaging Het
Sycp2 T C 2: 177,999,916 (GRCm39) Y1020C probably benign Het
Tmem81 A G 1: 132,435,752 (GRCm39) N186S probably benign Het
Tut4 G A 4: 108,370,125 (GRCm39) E714K probably damaging Het
Vmn2r98 A G 17: 19,286,125 (GRCm39) M208V probably benign Het
Other mutations in Tmem181a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CACCATGGGAGAACTGTTTCTG -3'
(R):5'- GTGGTCAGCAATGACTCTCAC -3'

Sequencing Primer
(F):5'- CCATGGGAGAACTGTTTCTGGTAGTC -3'
(R):5'- TGGTCAGCAATGACTCTCACACTAC -3'
Posted On 2015-01-11