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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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