Incidental Mutation 'R0138:Asic4'
ID 22082
Institutional Source Beutler Lab
Gene Symbol Asic4
Ensembl Gene ENSMUSG00000033007
Gene Name acid-sensing ion channel family member 4
Synonyms Accn4
MMRRC Submission 038423-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0138 (G1)
Quality Score 148
Status Validated (trace)
Chromosome 1
Chromosomal Location 75427080-75450987 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75446331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 291 (Q291L)
Ref Sequence ENSEMBL: ENSMUSP00000045598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037708] [ENSMUST00000079205] [ENSMUST00000094818] [ENSMUST00000113577] [ENSMUST00000138683]
AlphaFold Q7TNS7
Predicted Effect possibly damaging
Transcript: ENSMUST00000037708
AA Change: Q291L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045598
Gene: ENSMUSG00000033007
AA Change: Q291L

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
Pfam:ASC 45 464 5.3e-92 PFAM
low complexity region 507 533 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079205
SMART Domains Protein: ENSMUSP00000078199
Gene: ENSMUSG00000032997

DomainStartEndE-ValueType
low complexity region 37 46 N/A INTRINSIC
Pfam:CHGN 262 761 5e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094818
SMART Domains Protein: ENSMUSP00000092412
Gene: ENSMUSG00000032997

DomainStartEndE-ValueType
Pfam:CHGN 100 599 3.3e-174 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113577
AA Change: Q291L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109207
Gene: ENSMUSG00000033007
AA Change: Q291L

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
Pfam:ASC 45 346 5.5e-94 PFAM
Pfam:ASC 344 446 1.4e-42 PFAM
low complexity region 488 514 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138683
SMART Domains Protein: ENSMUSP00000117253
Gene: ENSMUSG00000032997

DomainStartEndE-ValueType
low complexity region 37 46 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194916
Meta Mutation Damage Score 0.0969 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 97% (76/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous knockout increases the fear response in the predator-odor induced fear test and increases anxiety in open field and elevated plus maze tests. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,899,098 (GRCm39) N693K probably damaging Het
Adgrl3 T A 5: 81,841,454 (GRCm39) V845D probably damaging Het
Anxa8 T A 14: 33,819,896 (GRCm39) F269Y probably benign Het
Anxa8 T A 14: 33,819,897 (GRCm39) F295L possibly damaging Het
Aox4 C G 1: 58,268,025 (GRCm39) L202V probably damaging Het
Ap3s2 A G 7: 79,559,617 (GRCm39) V104A probably benign Het
Aqp3 G A 4: 41,094,843 (GRCm39) probably benign Het
Arhgef26 C T 3: 62,355,680 (GRCm39) H751Y probably benign Het
Bap1 T C 14: 30,978,681 (GRCm39) Y31H probably damaging Het
Brf1 A T 12: 112,924,759 (GRCm39) V655D probably damaging Het
Cebpz A G 17: 79,238,820 (GRCm39) S663P probably benign Het
Ces2h A G 8: 105,744,693 (GRCm39) D357G probably benign Het
Cfap36 T C 11: 29,194,073 (GRCm39) T90A probably benign Het
Ciita A T 16: 10,330,134 (GRCm39) D803V probably damaging Het
Clnk C A 5: 38,931,951 (GRCm39) probably benign Het
Cyp46a1 A G 12: 108,317,470 (GRCm39) N158S probably damaging Het
Cyp4f13 A G 17: 33,160,080 (GRCm39) I98T possibly damaging Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dll3 T A 7: 28,000,746 (GRCm39) D103V possibly damaging Het
Dnai1 T A 4: 41,629,814 (GRCm39) M446K possibly damaging Het
Dppa4 A T 16: 48,111,425 (GRCm39) T85S probably benign Het
Eif4g1 A T 16: 20,494,095 (GRCm39) H57L probably damaging Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Fn1 T A 1: 71,663,269 (GRCm39) Q1073L possibly damaging Het
Foxp4 T C 17: 48,180,104 (GRCm39) D599G unknown Het
Frrs1 T C 3: 116,675,456 (GRCm39) V128A possibly damaging Het
Gcfc2 G A 6: 81,926,935 (GRCm39) D608N probably damaging Het
Gm1043 T C 5: 37,350,317 (GRCm39) probably benign Het
Gm5148 T C 3: 37,768,926 (GRCm39) E98G probably benign Het
Gpr141 T C 13: 19,936,428 (GRCm39) I116V probably benign Het
Hic1 T C 11: 75,058,169 (GRCm39) N240S probably damaging Het
Hpx G A 7: 105,241,445 (GRCm39) T322I probably damaging Het
Hs3st4 A T 7: 123,996,416 (GRCm39) M361L probably benign Het
Ifrd1 A G 12: 40,257,129 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Klk1b21 T A 7: 43,755,319 (GRCm39) C173S probably damaging Het
Krt25 A T 11: 99,213,524 (GRCm39) V65E probably benign Het
Lrrc15 A T 16: 30,092,267 (GRCm39) D357E possibly damaging Het
Lrrd1 T A 5: 3,901,345 (GRCm39) V550E probably benign Het
Macf1 A G 4: 123,334,540 (GRCm39) Y1490H probably damaging Het
Macrod1 A G 19: 7,174,281 (GRCm39) probably benign Het
Mcm5 T A 8: 75,847,508 (GRCm39) V435D probably damaging Het
Mctp1 C T 13: 76,975,831 (GRCm39) R478C probably damaging Het
Med10 T C 13: 69,959,817 (GRCm39) probably benign Het
Mrpl4 T C 9: 20,919,888 (GRCm39) Y280H probably benign Het
Msrb3 T C 10: 120,687,892 (GRCm39) E61G probably damaging Het
Myo1c T C 11: 75,551,827 (GRCm39) Y337H possibly damaging Het
Myo7b T A 18: 32,143,204 (GRCm39) T165S probably damaging Het
Myrfl T A 10: 116,685,138 (GRCm39) R81W probably damaging Het
Neil1 T C 9: 57,051,030 (GRCm39) probably benign Het
Neto2 A G 8: 86,367,673 (GRCm39) I357T possibly damaging Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nkx6-3 T C 8: 23,643,607 (GRCm39) S3P probably benign Het
Or52h7 A T 7: 104,214,210 (GRCm39) I261L probably benign Het
Plce1 T C 19: 38,512,863 (GRCm39) I54T possibly damaging Het
Prex2 A T 1: 11,355,267 (GRCm39) probably benign Het
Psapl1 T A 5: 36,361,975 (GRCm39) V189E probably damaging Het
Ptdss2 T G 7: 140,735,232 (GRCm39) probably benign Het
Rnf213 T C 11: 119,307,322 (GRCm39) C661R probably benign Het
Rpap1 T C 2: 119,595,380 (GRCm39) probably null Het
Rrp1b A G 17: 32,279,426 (GRCm39) T696A probably benign Het
Sacm1l T A 9: 123,377,982 (GRCm39) H87Q probably benign Het
Serpinb11 T A 1: 107,305,260 (GRCm39) M212K probably damaging Het
Tbc1d22a C A 15: 86,183,885 (GRCm39) T248K probably damaging Het
Tcerg1 C T 18: 42,701,679 (GRCm39) probably benign Het
Tpst1 T A 5: 130,130,627 (GRCm39) H32Q probably damaging Het
Tsc2 A T 17: 24,818,600 (GRCm39) V1412E possibly damaging Het
Usp19 C A 9: 108,378,514 (GRCm39) P1326Q possibly damaging Het
Vmn1r235 T A 17: 21,482,596 (GRCm39) M307K probably damaging Het
Vmn2r58 T A 7: 41,487,048 (GRCm39) T616S probably damaging Het
Vps13a G A 19: 16,637,863 (GRCm39) T2406I possibly damaging Het
Zbtb26 T A 2: 37,326,053 (GRCm39) M328L probably benign Het
Zp2 A G 7: 119,736,423 (GRCm39) F340S probably damaging Het
Other mutations in Asic4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Asic4 APN 1 75,445,790 (GRCm39) missense possibly damaging 0.94
IGL01470:Asic4 APN 1 75,427,510 (GRCm39) missense probably damaging 1.00
IGL02645:Asic4 APN 1 75,449,998 (GRCm39) unclassified probably benign
IGL03002:Asic4 APN 1 75,427,967 (GRCm39) missense possibly damaging 0.61
positron UTSW 1 75,449,687 (GRCm39) nonsense probably null
PIT4445001:Asic4 UTSW 1 75,427,771 (GRCm39) missense probably benign 0.03
R0106:Asic4 UTSW 1 75,427,771 (GRCm39) missense probably benign 0.03
R0453:Asic4 UTSW 1 75,450,155 (GRCm39) unclassified probably benign
R0573:Asic4 UTSW 1 75,445,746 (GRCm39) splice site probably benign
R0705:Asic4 UTSW 1 75,428,014 (GRCm39) missense probably damaging 1.00
R1892:Asic4 UTSW 1 75,446,126 (GRCm39) missense probably damaging 1.00
R1912:Asic4 UTSW 1 75,445,876 (GRCm39) missense possibly damaging 0.93
R3614:Asic4 UTSW 1 75,449,702 (GRCm39) missense probably damaging 1.00
R3790:Asic4 UTSW 1 75,446,485 (GRCm39) unclassified probably benign
R3923:Asic4 UTSW 1 75,427,871 (GRCm39) missense probably damaging 1.00
R4447:Asic4 UTSW 1 75,447,014 (GRCm39) unclassified probably benign
R5177:Asic4 UTSW 1 75,427,483 (GRCm39) missense probably damaging 1.00
R5208:Asic4 UTSW 1 75,427,870 (GRCm39) missense probably damaging 1.00
R5266:Asic4 UTSW 1 75,427,567 (GRCm39) missense probably benign 0.03
R5436:Asic4 UTSW 1 75,427,963 (GRCm39) missense probably benign 0.09
R5921:Asic4 UTSW 1 75,428,017 (GRCm39) missense probably benign 0.30
R6086:Asic4 UTSW 1 75,449,887 (GRCm39) missense possibly damaging 0.64
R6512:Asic4 UTSW 1 75,449,687 (GRCm39) nonsense probably null
R6530:Asic4 UTSW 1 75,448,979 (GRCm39) missense probably damaging 0.98
R7545:Asic4 UTSW 1 75,449,060 (GRCm39) missense probably damaging 0.98
R9129:Asic4 UTSW 1 75,446,469 (GRCm39) missense possibly damaging 0.77
R9322:Asic4 UTSW 1 75,446,462 (GRCm39) missense probably benign 0.38
Z1177:Asic4 UTSW 1 75,445,864 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ACAGGGCAACTCACTGCTTAAAGG -3'
(R):5'- TGCACATCTATGCGCTCCCAAG -3'

Sequencing Primer
(F):5'- ACTCACTGCTTAAAGGGATGCTG -3'
(R):5'- TATGCGCTCCCAAGTATACG -3'
Posted On 2013-04-12