Incidental Mutation 'R1301:Pacc1'
ID 158344
Institutional Source Beutler Lab
Gene Symbol Pacc1
Ensembl Gene ENSMUSG00000026627
Gene Name proton activated chloride channel 1
Synonyms Tmem206, 2310028N02Rik
MMRRC Submission 039367-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R1301 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 191058109-191083111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 191080632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 284 (V284A)
Ref Sequence ENSEMBL: ENSMUSP00000027940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027940] [ENSMUST00000067976]
AlphaFold Q9D771
Predicted Effect probably damaging
Transcript: ENSMUST00000027940
AA Change: V284A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027940
Gene: ENSMUSG00000026627
AA Change: V284A

DomainStartEndE-ValueType
coiled coil region 2 36 N/A INTRINSIC
Pfam:TMEM206 55 349 7.2e-173 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067976
SMART Domains Protein: ENSMUSP00000070726
Gene: ENSMUSG00000026626

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 30 51 N/A INTRINSIC
Pfam:B56 56 462 3.6e-193 PFAM
Meta Mutation Damage Score 0.5951 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.3%
  • 20x: 82.6%
Validation Efficiency 96% (67/70)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T A 4: 144,291,635 (GRCm39) I24L probably benign Het
Ano1 A G 7: 144,187,426 (GRCm39) W447R possibly damaging Het
Blm T A 7: 80,105,165 (GRCm39) K103* probably null Het
Camta2 A G 11: 70,567,230 (GRCm39) I675T probably benign Het
Catsperz G A 19: 6,902,450 (GRCm39) R15C probably damaging Het
Chd1l T C 3: 97,510,964 (GRCm39) probably benign Het
Corin C A 5: 72,462,276 (GRCm39) E844D possibly damaging Het
Cyb5rl T G 4: 106,938,104 (GRCm39) M127R probably damaging Het
Dcdc2a A T 13: 25,286,569 (GRCm39) N164I possibly damaging Het
Dnah6 A G 6: 73,185,528 (GRCm39) probably null Het
Emilin2 T C 17: 71,562,960 (GRCm39) probably benign Het
Epb41l2 T A 10: 25,319,800 (GRCm39) V211D probably damaging Het
Fbxo47 C T 11: 97,759,427 (GRCm39) M166I probably benign Het
Golm1 T C 13: 59,786,187 (GRCm39) D335G probably damaging Het
Gpn1 T A 5: 31,660,773 (GRCm39) M188K probably damaging Het
Gpr84 T A 15: 103,217,646 (GRCm39) S144C probably damaging Het
Grm8 G T 6: 27,981,200 (GRCm39) Q237K possibly damaging Het
Gsdmd C A 15: 75,738,908 (GRCm39) probably null Het
Hmgcr G A 13: 96,795,528 (GRCm39) T347I probably damaging Het
Hsd17b7 T A 1: 169,788,774 (GRCm39) probably benign Het
Hsd3b9 G A 3: 98,354,182 (GRCm39) Q106* probably null Het
Klhl7 T G 5: 24,364,489 (GRCm39) W508G probably damaging Het
Lrp2 C A 2: 69,258,948 (GRCm39) D4581Y probably damaging Het
Lrrc7 T C 3: 157,840,968 (GRCm39) N1357D probably benign Het
Macf1 T C 4: 123,380,451 (GRCm39) probably benign Het
Mroh7 T C 4: 106,577,692 (GRCm39) T329A probably damaging Het
Mroh9 C T 1: 162,871,552 (GRCm39) probably null Het
Mta2 A G 19: 8,926,550 (GRCm39) probably benign Het
Myo3a A T 2: 22,271,906 (GRCm39) probably benign Het
Nrip2 A G 6: 128,384,352 (GRCm39) D153G probably benign Het
Nup133 T C 8: 124,644,156 (GRCm39) probably benign Het
Nup210 C T 6: 91,019,329 (GRCm39) V259M possibly damaging Het
Or10ak14 C T 4: 118,610,816 (GRCm39) M308I probably benign Het
Or5b112 A T 19: 13,319,211 (GRCm39) I30F probably benign Het
Or9i14 A T 19: 13,792,726 (GRCm39) V76D probably damaging Het
Otog C T 7: 45,939,113 (GRCm39) R2048C probably damaging Het
Paqr7 T C 4: 134,235,124 (GRCm39) L327P probably damaging Het
Parl A G 16: 20,105,676 (GRCm39) S249P probably damaging Het
Phc1 A G 6: 122,302,833 (GRCm39) I230T probably benign Het
Pitpnm1 T G 19: 4,160,831 (GRCm39) probably null Het
Plpp1 A G 13: 112,971,477 (GRCm39) Y48C probably damaging Het
Pxdc1 A G 13: 34,812,870 (GRCm39) F194L probably benign Het
Rp1 A T 1: 4,416,159 (GRCm39) V1651D possibly damaging Het
Serpinb1c T A 13: 33,080,943 (GRCm39) R47* probably null Het
Sis T C 3: 72,853,915 (GRCm39) T521A possibly damaging Het
Slc16a9 A G 10: 70,118,308 (GRCm39) D209G probably benign Het
Slc26a4 A T 12: 31,575,567 (GRCm39) C706* probably null Het
Slc37a2 A G 9: 37,148,177 (GRCm39) V325A probably benign Het
Speg T A 1: 75,378,145 (GRCm39) D784E probably damaging Het
Sycp1 T C 3: 102,827,938 (GRCm39) I270V probably benign Het
Tatdn2 T A 6: 113,681,076 (GRCm39) F309I probably damaging Het
Tmem67 T C 4: 12,089,400 (GRCm39) probably benign Het
Trpm1 T A 7: 63,852,801 (GRCm39) probably null Het
Wrn T C 8: 33,782,714 (GRCm39) R496G probably damaging Het
Zfhx2 A G 14: 55,300,854 (GRCm39) V2299A probably benign Het
Zfp819 T A 7: 43,266,524 (GRCm39) S260T 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
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
R5842:Pacc1 UTSW 1 191,078,986 (GRCm39) missense probably damaging 1.00
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'- CCAAAGGATGCTGTTAGGAGAGCC -3'
(R):5'- ATCTTCGTAAGCCTCAAGCCTTCAC -3'

Sequencing Primer
(F):5'- GGGCTAGTAGTCCTGCCTG -3'
(R):5'- GAGTGACAGCAAAATATGTCTGTCTC -3'
Posted On 2014-02-18