Incidental Mutation 'R5842:Pacc1'
ID 450475
Institutional Source Beutler Lab
Gene Symbol Pacc1
Ensembl Gene ENSMUSG00000026627
Gene Name proton activated chloride channel 1
Synonyms Tmem206, 2310028N02Rik
MMRRC Submission 043223-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R5842 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 191058109-191083111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 191078986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 223 (C223F)
Ref Sequence ENSEMBL: ENSMUSP00000027940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027940]
AlphaFold Q9D771
Predicted Effect probably damaging
Transcript: ENSMUST00000027940
AA Change: C223F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027940
Gene: ENSMUSG00000026627
AA Change: C223F

DomainStartEndE-ValueType
coiled coil region 2 36 N/A INTRINSIC
Pfam:TMEM206 55 349 7.2e-173 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 G A 3: 127,474,618 (GRCm39) H462Y probably damaging Het
Atp12a T C 14: 56,615,747 (GRCm39) I503T probably damaging Het
Bmp6 T A 13: 38,530,543 (GRCm39) V212D probably damaging Het
Col7a1 A G 9: 108,794,883 (GRCm39) D1479G unknown Het
Eea1 A G 10: 95,853,986 (GRCm39) D548G probably damaging Het
Eif5a2 T C 3: 28,848,546 (GRCm39) V135A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fstl5 T G 3: 76,229,590 (GRCm39) N130K possibly damaging Het
Gatm T C 2: 122,434,108 (GRCm39) I147V probably benign Het
Jakmip1 C T 5: 37,264,612 (GRCm39) R418C probably damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Matn2 A T 15: 34,399,202 (GRCm39) D363V probably damaging Het
Mov10 G A 3: 104,706,695 (GRCm39) probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Nbas T C 12: 13,319,267 (GRCm39) probably null Het
Nlgn1 A T 3: 26,187,892 (GRCm39) probably null Het
Nnt T A 13: 119,531,283 (GRCm39) I155F probably damaging Het
Or5p80 A G 7: 108,229,859 (GRCm39) Y220C probably benign Het
Parp9 A G 16: 35,763,778 (GRCm39) I19V possibly damaging Het
Pcdha11 T A 18: 37,144,337 (GRCm39) S143T possibly damaging Het
Pdzph1 T G 17: 59,281,407 (GRCm39) S292R possibly damaging Het
Pmvk T A 3: 89,374,927 (GRCm39) V108D probably damaging Het
Rc3h2 T C 2: 37,268,383 (GRCm39) T916A possibly damaging Het
Slc23a1 T A 18: 35,755,935 (GRCm39) I393F probably damaging Het
Slc4a7 T A 14: 14,778,866 (GRCm38) M925K probably damaging Het
Spag17 A G 3: 99,846,566 (GRCm39) D30G possibly damaging Het
Syde2 A G 3: 145,704,775 (GRCm39) I576V probably benign Het
Tgm2 C T 2: 157,985,001 (GRCm39) R35H probably damaging Het
Tiam1 A G 16: 89,652,887 (GRCm39) V745A probably benign Het
Timeless T C 10: 128,083,328 (GRCm39) probably null Het
Trp53tg5 T C 2: 164,313,289 (GRCm39) K129E possibly damaging Het
Ttc6 T C 12: 57,783,802 (GRCm39) Y1754H probably damaging Het
Ube4b G T 4: 149,415,887 (GRCm39) T1069N probably benign Het
Ugcg C T 4: 59,219,545 (GRCm39) S294L possibly damaging Het
Vgll2 T C 10: 51,901,388 (GRCm39) L106P probably damaging Het
Vsig10l T A 7: 43,118,396 (GRCm39) V798E probably benign Het
Wdr73 A T 7: 80,541,458 (GRCm39) H361Q probably damaging Het
Xrcc3 A T 12: 111,770,964 (GRCm39) F322I possibly damaging Het
Ypel1 T C 16: 16,912,851 (GRCm39) T26A possibly damaging Het
Other mutations in Pacc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Pacc1 APN 1 191,060,405 (GRCm39) missense unknown
IGL02318:Pacc1 APN 1 191,080,605 (GRCm39) missense possibly damaging 0.90
IGL03180:Pacc1 APN 1 191,071,089 (GRCm39) missense probably damaging 1.00
R1301:Pacc1 UTSW 1 191,080,632 (GRCm39) missense probably damaging 1.00
R1445:Pacc1 UTSW 1 191,080,559 (GRCm39) unclassified probably benign
R1463:Pacc1 UTSW 1 191,060,486 (GRCm39) splice site probably benign
R1610:Pacc1 UTSW 1 191,077,262 (GRCm39) missense probably benign 0.04
R2149:Pacc1 UTSW 1 191,077,306 (GRCm39) missense probably benign 0.04
R4418:Pacc1 UTSW 1 191,080,629 (GRCm39) missense probably damaging 1.00
R4825:Pacc1 UTSW 1 191,073,040 (GRCm39) missense probably damaging 0.97
R5274:Pacc1 UTSW 1 191,080,665 (GRCm39) missense probably damaging 0.99
R5956:Pacc1 UTSW 1 191,080,568 (GRCm39) missense probably damaging 1.00
R6031:Pacc1 UTSW 1 191,073,037 (GRCm39) missense probably benign 0.09
R6031:Pacc1 UTSW 1 191,073,037 (GRCm39) missense probably benign 0.09
R7500:Pacc1 UTSW 1 191,078,910 (GRCm39) splice site probably null
R7670:Pacc1 UTSW 1 191,073,065 (GRCm39) missense probably benign 0.19
R9331:Pacc1 UTSW 1 191,077,318 (GRCm39) critical splice donor site probably null
R9516:Pacc1 UTSW 1 191,082,004 (GRCm39) missense probably damaging 1.00
R9539:Pacc1 UTSW 1 191,077,174 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTAACCTGGTAAAGCAGCC -3'
(R):5'- GCCCGTTCCACTCAAAAGTC -3'

Sequencing Primer
(F):5'- CCTGGTAAAGCAGCCAGATCG -3'
(R):5'- AAGTCTCCCTCCATCCCAATTTAAG -3'
Posted On 2016-12-20