Incidental Mutation 'R4802:Clca3a2'
ID 472760
Institutional Source Beutler Lab
Gene Symbol Clca3a2
Ensembl Gene ENSMUSG00000028262
Gene Name chloride channel accessory 3A2
Synonyms Clca2
MMRRC Submission 042424-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4802 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 144796559-144819494 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 144807351 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 478 (S478T)
Ref Sequence ENSEMBL: ENSMUSP00000029929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000199029]
AlphaFold Q9EQR4
Predicted Effect possibly damaging
Transcript: ENSMUST00000029929
AA Change: S478T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: S478T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 306 478 1.5e-21 SMART
FN3 758 857 5.49e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000197013
AA Change: S38T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198543
Predicted Effect probably benign
Transcript: ENSMUST00000199029
SMART Domains Protein: ENSMUSP00000143543
Gene: ENSMUSG00000028262

DomainStartEndE-ValueType
Pfam:CLCA 1 188 6.5e-77 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 97% (93/96)
Allele List at MGI
Other mutations in this stock
Total: 167 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A G 10: 28,983,926 (GRCm38) probably null Het
4932416K20Rik T A 8: 104,797,032 (GRCm38) noncoding transcript Het
Aadacl3 A G 4: 144,456,232 (GRCm38) I222T probably damaging Het
Abca13 G T 11: 9,522,341 (GRCm38) G4249V possibly damaging Het
Abcb10 A G 8: 123,966,527 (GRCm38) V346A probably benign Het
Abcc2 A T 19: 43,819,361 (GRCm38) I814F probably damaging Het
Alkbh2 C T 5: 114,124,226 (GRCm38) E148K probably damaging Het
Ankrd28 A C 14: 31,736,830 (GRCm38) D335E probably damaging Het
Ankrd44 T C 1: 54,762,316 (GRCm38) H284R probably damaging Het
Arfgef3 G T 10: 18,591,906 (GRCm38) Q1849K probably benign Het
Bach1 T A 16: 87,722,452 (GRCm38) D543E probably damaging Het
Bahcc1 G A 11: 120,282,225 (GRCm38) V1558I probably benign Het
Bbs5 T A 2: 69,655,614 (GRCm38) W168R probably damaging Het
Bcar3 A T 3: 122,529,594 (GRCm38) D766V probably benign Het
C1ra A G 6: 124,513,768 (GRCm38) D40G probably benign Het
Cbr4 T C 8: 61,490,079 (GRCm38) probably benign Het
Ccdc138 G A 10: 58,573,643 (GRCm38) C598Y probably damaging Het
Cd200r3 T A 16: 44,957,825 (GRCm38) N197K possibly damaging Het
Cenpf T A 1: 189,651,220 (GRCm38) E2634D probably damaging Het
Cisd2 T C 3: 135,411,141 (GRCm38) K63R probably damaging Het
Clptm1l T C 13: 73,607,862 (GRCm38) M199T possibly damaging Het
Cntnap4 T A 8: 112,773,590 (GRCm38) S505T possibly damaging Het
Cr2 C T 1: 195,163,311 (GRCm38) G112D probably damaging Het
Crb2 T A 2: 37,793,756 (GRCm38) I1090N probably benign Het
Csmd3 G T 15: 47,621,292 (GRCm38) P3057Q probably damaging Het
Ctso G A 3: 81,954,240 (GRCm38) V307I probably damaging Het
Cyp3a41b T A 5: 145,573,651 (GRCm38) T138S probably benign Het
Dctn3 G T 4: 41,719,904 (GRCm38) Y67* probably null Het
Dennd4c C A 4: 86,819,884 (GRCm38) Y918* probably null Het
Dlg5 C T 14: 24,154,689 (GRCm38) G1262D probably damaging Het
Dnaaf1 G A 8: 119,577,361 (GRCm38) G46D probably benign Het
Dnah6 A G 6: 73,089,698 (GRCm38) V2563A probably damaging Het
Dnajc13 A G 9: 104,175,727 (GRCm38) Y1679H probably benign Het
Eif2ak3 T C 6: 70,887,893 (GRCm38) Y578H probably benign Het
Endod1 C T 9: 14,357,023 (GRCm38) V389M probably benign Het
Entpd2 T G 2: 25,399,764 (GRCm38) probably null Het
Ephb4 T C 5: 137,365,506 (GRCm38) L582P probably damaging Het
Eps15 T C 4: 109,324,217 (GRCm38) L316S possibly damaging Het
Erbb4 G T 1: 68,330,246 (GRCm38) T412K probably damaging Het
Fam117a T A 11: 95,364,070 (GRCm38) F90I probably damaging Het
Fam187b T G 7: 30,977,090 (GRCm38) V8G possibly damaging Het
Far1 T A 7: 113,539,453 (GRCm38) I59N possibly damaging Het
Fbxo34 T A 14: 47,530,869 (GRCm38) L562Q probably damaging Het
Frem1 T A 4: 82,916,628 (GRCm38) probably benign Het
Gfra3 G T 18: 34,720,192 (GRCm38) P10Q probably damaging Het
Gm10619 T A 7: 73,810,025 (GRCm38) noncoding transcript Het
Gm19965 T A 1: 116,821,896 (GRCm38) Y436N probably benign Het
Gm28042 T C 2: 120,042,054 (GRCm38) probably benign Het
Gm4953 A T 1: 159,168,418 (GRCm38) noncoding transcript Het
Gm5799 A T 14: 43,544,548 (GRCm38) H59L probably damaging Het
Gmppb T A 9: 108,050,217 (GRCm38) V121E probably benign Het
Ighv7-4 G C 12: 114,223,279 (GRCm38) probably benign Het
Ipo4 A G 14: 55,631,214 (GRCm38) S446P probably damaging Het
Itpr2 T C 6: 146,371,331 (GRCm38) T855A probably damaging Het
Jaml T C 9: 45,101,064 (GRCm38) I283T possibly damaging Het
Klhl32 T C 4: 24,649,698 (GRCm38) Y399C possibly damaging Het
Lratd2 C A 15: 60,823,944 (GRCm38) probably benign Het
Lrriq1 G A 10: 103,221,318 (GRCm38) T207I probably benign Het
Lrriq3 A T 3: 155,187,970 (GRCm38) H436L probably benign Het
Mad2l1bp T C 17: 46,148,263 (GRCm38) K114E possibly damaging Het
Mamstr T C 7: 45,642,418 (GRCm38) V64A possibly damaging Het
Map4 T A 9: 110,035,257 (GRCm38) S517T probably benign Het
Matn1 A T 4: 130,950,025 (GRCm38) I182F possibly damaging Het
Mcm3 A G 1: 20,810,156 (GRCm38) I484T probably damaging Het
Med13 T A 11: 86,278,773 (GRCm38) I1922F probably damaging Het
Metap2 A G 10: 93,868,895 (GRCm38) V137A probably damaging Het
Mex3d A G 10: 80,386,954 (GRCm38) V156A possibly damaging Het
Mfsd6 G A 1: 52,709,596 (GRCm38) P37S probably benign Het
Mmut A G 17: 40,937,351 (GRCm38) T90A probably benign Het
Mrgprx1 A C 7: 48,021,211 (GRCm38) S263A possibly damaging Het
Mrtfa T C 15: 81,104,799 (GRCm38) E7G probably benign Het
Msantd5f6 C T 4: 73,401,267 (GRCm38) W80* probably null Het
Msl1 C T 11: 98,803,969 (GRCm38) R505* probably null Het
Mta2 T C 19: 8,945,851 (GRCm38) S96P probably damaging Het
Mtr A T 13: 12,195,251 (GRCm38) N986K probably benign Het
Mutyh C T 4: 116,817,029 (GRCm38) T259I probably benign Het
Myof T C 19: 37,945,738 (GRCm38) T908A probably benign Het
Nav2 A T 7: 49,545,852 (GRCm38) D992V possibly damaging Het
Neb T C 2: 52,200,703 (GRCm38) T1352A possibly damaging Het
Nfix CAAAAA CAAAA 8: 84,716,247 (GRCm38) probably null Het
Nudt19 T C 7: 35,556,139 (GRCm38) probably benign Het
Nudt6 G A 3: 37,405,354 (GRCm38) R161C probably benign Het
Olr1 A G 6: 129,488,090 (GRCm38) F141S possibly damaging Het
Oprl1 G T 2: 181,719,253 (GRCm38) M340I probably benign Het
Or10ag57 T A 2: 87,388,209 (GRCm38) V168E probably benign Het
Or10d1 T G 9: 39,572,858 (GRCm38) M134L probably benign Het
Or11g2 A G 14: 50,619,022 (GRCm38) T267A probably benign Het
Or14j1 T C 17: 37,835,349 (GRCm38) Y117H probably damaging Het
Or1e17 T A 11: 73,940,870 (GRCm38) I208K possibly damaging Het
Or2ak6 T C 11: 58,701,791 (GRCm38) V30A probably benign Het
Or2r2 A T 6: 42,486,679 (GRCm38) N171K probably benign Het
Or4f53 T A 2: 111,257,152 (GRCm38) F12L probably damaging Het
Or5d43 T A 2: 88,274,879 (GRCm38) M57L probably damaging Het
Or5g26 T A 2: 85,664,278 (GRCm38) D52V probably damaging Het
Or9s15 T A 1: 92,596,998 (GRCm38) C160S probably benign Het
Otogl A C 10: 107,901,336 (GRCm38) C72W probably damaging Het
Pcdha11 T A 18: 37,005,465 (GRCm38) I49N probably damaging Het
Pcdha4 T A 18: 36,953,955 (GRCm38) L397* probably null Het
Pcdhb14 A G 18: 37,448,278 (GRCm38) S146G probably benign Het
Pclo T A 5: 14,675,815 (GRCm38) H1562Q unknown Het
Pcsk9 T C 4: 106,447,569 (GRCm38) E434G probably benign Het
Phc2 A G 4: 128,751,598 (GRCm38) K833E probably damaging Het
Pja2 A T 17: 64,292,862 (GRCm38) S480R probably damaging Het
Pkd1 G A 17: 24,578,096 (GRCm38) G2493D probably damaging Het
Plk5 G A 10: 80,359,304 (GRCm38) V179M possibly damaging Het
Polr1a G A 6: 71,976,070 (GRCm38) V1541I probably benign Het
Ppard C G 17: 28,286,374 (GRCm38) R12G unknown Het
Ppp1r14a A G 7: 29,291,526 (GRCm38) D73G probably damaging Het
Psd3 C T 8: 68,121,148 (GRCm38) R127H probably benign Het
Pten G T 19: 32,758,503 (GRCm38) G20V possibly damaging Het
Ptprf G A 4: 118,210,329 (GRCm38) probably benign Het
Rad54l T C 4: 116,122,924 (GRCm38) D21G probably null Het
Rgs14 T C 13: 55,380,957 (GRCm38) Y304H probably damaging Het
Rgs9 T C 11: 109,240,868 (GRCm38) K346R probably damaging Het
Rnf169 C G 7: 99,926,446 (GRCm38) G314A probably damaging Het
Rpgrip1l T A 8: 91,270,177 (GRCm38) T692S probably damaging Het
Rtf1 T C 2: 119,675,228 (GRCm38) V54A possibly damaging Het
Rtn4 T C 11: 29,708,660 (GRCm38) V938A probably benign Het
Ryr2 T A 13: 11,687,932 (GRCm38) D2890V probably damaging Het
Ryr2 T C 13: 11,708,227 (GRCm38) T2509A probably damaging Het
Scel A C 14: 103,583,100 (GRCm38) T348P probably benign Het
Scgb1b2 G T 7: 31,291,573 (GRCm38) L37I possibly damaging Het
Sdf4 A G 4: 156,000,721 (GRCm38) H171R possibly damaging Het
Sec31a A G 5: 100,393,363 (GRCm38) V295A probably damaging Het
Semp2l2a T A 8: 13,836,970 (GRCm38) I374F possibly damaging Het
Setx T A 2: 29,146,373 (GRCm38) S957T probably benign Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Six5 A G 7: 19,096,969 (GRCm38) N507S probably benign Het
Slc12a7 T C 13: 73,763,892 (GRCm38) probably null Het
Slc1a7 T A 4: 107,993,040 (GRCm38) V116E probably damaging Het
Slc22a1 A G 17: 12,675,535 (GRCm38) L42P probably damaging Het
Slc25a31 A T 3: 40,721,545 (GRCm38) I174F probably damaging Het
Slc31a2 A T 4: 62,292,632 (GRCm38) M3L probably damaging Het
Slco1a4 T A 6: 141,845,497 (GRCm38) probably benign Het
Smcr8 C T 11: 60,778,610 (GRCm38) probably null Het
Smg5 G T 3: 88,355,692 (GRCm38) E801* probably null Het
Smgc C A 15: 91,854,616 (GRCm38) H492Q probably benign Het
Smyd4 G T 11: 75,403,184 (GRCm38) G694V probably damaging Het
Sorcs3 A G 19: 48,398,744 (GRCm38) T223A possibly damaging Het
Stab1 G T 14: 31,141,371 (GRCm38) C2119* probably null Het
Taar9 A G 10: 24,108,843 (GRCm38) I231T probably damaging Het
Tacr2 A G 10: 62,261,548 (GRCm38) Y269C probably damaging Het
Taf3 T G 2: 9,951,123 (GRCm38) K744N possibly damaging Het
Tarbp1 C G 8: 126,474,889 (GRCm38) E59D possibly damaging Het
Tcstv1b T A 13: 120,173,222 (GRCm38) S13R probably benign Het
Tenm4 T A 7: 96,906,245 (GRCm38) V2682E probably damaging Het
Tet1 A C 10: 62,822,663 (GRCm38) L1468R probably damaging Het
Tgfb2 A T 1: 186,628,913 (GRCm38) Y380* probably null Het
Tgm5 T G 2: 121,052,472 (GRCm38) K435Q probably damaging Het
Themis A G 10: 28,761,511 (GRCm38) T204A probably benign Het
Tm4sf1 T C 3: 57,294,679 (GRCm38) Y37C probably damaging Het
Tnn T C 1: 160,145,033 (GRCm38) N333S possibly damaging Het
Tppp2 A G 14: 51,919,348 (GRCm38) N61D probably benign Het
Treml2 A G 17: 48,309,159 (GRCm38) T276A probably benign Het
Trit1 T C 4: 123,016,638 (GRCm38) V10A probably benign Het
Ttn T A 2: 76,964,646 (GRCm38) probably benign Het
Uba1y T G Y: 825,890 (GRCm38) probably null Het
Vcam1 C G 3: 116,115,935 (GRCm38) G581A probably damaging Het
Vmn1r16 G A 6: 57,323,190 (GRCm38) T149I probably benign Het
Vmn1r209 T C 13: 22,805,656 (GRCm38) D288G probably damaging Het
Vmn1r78 T A 7: 12,152,964 (GRCm38) Y167* probably null Het
Vmn2r103 T A 17: 19,795,076 (GRCm38) S493T probably benign Het
Vmn2r105 T A 17: 20,227,294 (GRCm38) M423L probably benign Het
Vps13c T C 9: 67,964,282 (GRCm38) F3244L probably damaging Het
Zfp119b A T 17: 55,939,642 (GRCm38) D149E probably damaging Het
Zfp345 T C 2: 150,473,308 (GRCm38) Y103C possibly damaging Het
Zmym6 C T 4: 127,123,216 (GRCm38) T930I probably benign Het
Other mutations in Clca3a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Clca3a2 APN 3 144,813,627 (GRCm38) nonsense probably null
IGL01663:Clca3a2 APN 3 144,817,155 (GRCm38) missense probably damaging 0.97
IGL01779:Clca3a2 APN 3 144,819,378 (GRCm38) missense possibly damaging 0.47
IGL02066:Clca3a2 APN 3 144,813,455 (GRCm38) missense probably benign
IGL02301:Clca3a2 APN 3 144,806,372 (GRCm38) missense probably damaging 0.98
IGL02619:Clca3a2 APN 3 144,806,322 (GRCm38) missense probably damaging 1.00
IGL02852:Clca3a2 APN 3 144,806,343 (GRCm38) missense probably damaging 0.98
IGL02901:Clca3a2 APN 3 144,816,768 (GRCm38) missense probably damaging 1.00
IGL03162:Clca3a2 APN 3 144,806,416 (GRCm38) missense probably damaging 1.00
R0032:Clca3a2 UTSW 3 144,816,733 (GRCm38) missense probably benign 0.01
R0244:Clca3a2 UTSW 3 144,813,898 (GRCm38) missense possibly damaging 0.90
R1249:Clca3a2 UTSW 3 144,803,004 (GRCm38) missense possibly damaging 0.80
R1370:Clca3a2 UTSW 3 144,813,863 (GRCm38) splice site probably benign
R1586:Clca3a2 UTSW 3 144,810,716 (GRCm38) missense possibly damaging 0.94
R1776:Clca3a2 UTSW 3 144,813,920 (GRCm38) missense probably damaging 1.00
R1797:Clca3a2 UTSW 3 144,797,637 (GRCm38) missense probably benign 0.01
R1869:Clca3a2 UTSW 3 144,806,403 (GRCm38) missense probably benign 0.44
R1871:Clca3a2 UTSW 3 144,797,637 (GRCm38) missense probably benign 0.01
R1919:Clca3a2 UTSW 3 144,810,696 (GRCm38) missense probably benign
R1923:Clca3a2 UTSW 3 144,805,730 (GRCm38) missense probably damaging 1.00
R2200:Clca3a2 UTSW 3 144,813,924 (GRCm38) missense probably benign 0.10
R2324:Clca3a2 UTSW 3 144,806,280 (GRCm38) critical splice donor site probably null
R2937:Clca3a2 UTSW 3 144,813,918 (GRCm38) missense probably benign 0.06
R3429:Clca3a2 UTSW 3 144,806,327 (GRCm38) missense probably benign 0.07
R3434:Clca3a2 UTSW 3 144,808,761 (GRCm38) unclassified probably benign
R3551:Clca3a2 UTSW 3 144,803,081 (GRCm38) missense probably damaging 1.00
R3952:Clca3a2 UTSW 3 144,803,061 (GRCm38) missense probably damaging 1.00
R4120:Clca3a2 UTSW 3 144,810,852 (GRCm38) missense probably benign 0.25
R4383:Clca3a2 UTSW 3 144,806,320 (GRCm38) missense probably benign 0.02
R4518:Clca3a2 UTSW 3 144,808,705 (GRCm38) missense probably damaging 1.00
R4598:Clca3a2 UTSW 3 144,805,683 (GRCm38) missense probably damaging 1.00
R4801:Clca3a2 UTSW 3 144,807,351 (GRCm38) missense possibly damaging 0.95
R4816:Clca3a2 UTSW 3 144,810,852 (GRCm38) missense probably benign 0.25
R4934:Clca3a2 UTSW 3 144,817,931 (GRCm38) missense probably damaging 1.00
R4942:Clca3a2 UTSW 3 144,806,502 (GRCm38) missense probably damaging 1.00
R5123:Clca3a2 UTSW 3 144,806,343 (GRCm38) missense probably damaging 1.00
R5156:Clca3a2 UTSW 3 144,805,838 (GRCm38) missense probably benign 0.26
R5275:Clca3a2 UTSW 3 144,813,579 (GRCm38) missense probably damaging 1.00
R5372:Clca3a2 UTSW 3 144,797,525 (GRCm38) missense probably benign 0.00
R5656:Clca3a2 UTSW 3 144,797,632 (GRCm38) missense probably benign 0.26
R6059:Clca3a2 UTSW 3 144,810,770 (GRCm38) missense probably damaging 1.00
R6155:Clca3a2 UTSW 3 144,819,357 (GRCm38) missense probably damaging 0.99
R6254:Clca3a2 UTSW 3 144,802,134 (GRCm38) missense probably benign
R6336:Clca3a2 UTSW 3 144,806,478 (GRCm38) missense probably benign
R6470:Clca3a2 UTSW 3 144,804,263 (GRCm38) splice site probably null
R6593:Clca3a2 UTSW 3 144,808,577 (GRCm38) critical splice donor site probably null
R6631:Clca3a2 UTSW 3 144,813,644 (GRCm38) missense probably benign
R6826:Clca3a2 UTSW 3 144,818,054 (GRCm38) missense possibly damaging 0.46
R6836:Clca3a2 UTSW 3 144,806,383 (GRCm38) missense probably damaging 0.97
R6896:Clca3a2 UTSW 3 144,808,701 (GRCm38) missense probably damaging 1.00
R7211:Clca3a2 UTSW 3 144,814,014 (GRCm38) missense probably benign 0.00
R7324:Clca3a2 UTSW 3 144,808,611 (GRCm38) missense probably damaging 0.99
R7411:Clca3a2 UTSW 3 144,802,099 (GRCm38) missense probably damaging 1.00
R7486:Clca3a2 UTSW 3 144,797,601 (GRCm38) missense probably damaging 1.00
R7491:Clca3a2 UTSW 3 144,813,579 (GRCm38) missense probably damaging 1.00
R7521:Clca3a2 UTSW 3 144,801,913 (GRCm38) makesense probably null
R7889:Clca3a2 UTSW 3 144,810,813 (GRCm38) nonsense probably null
R7946:Clca3a2 UTSW 3 144,807,314 (GRCm38) critical splice donor site probably null
R7991:Clca3a2 UTSW 3 144,813,995 (GRCm38) missense probably benign 0.00
R8022:Clca3a2 UTSW 3 144,805,766 (GRCm38) missense probably damaging 1.00
R8344:Clca3a2 UTSW 3 144,805,942 (GRCm38) critical splice acceptor site probably null
R8367:Clca3a2 UTSW 3 144,817,747 (GRCm38) splice site probably null
R8371:Clca3a2 UTSW 3 144,807,353 (GRCm38) nonsense probably null
R8814:Clca3a2 UTSW 3 144,797,764 (GRCm38) missense probably benign 0.18
R9031:Clca3a2 UTSW 3 144,805,714 (GRCm38) missense probably damaging 1.00
R9069:Clca3a2 UTSW 3 144,813,686 (GRCm38) splice site probably benign
R9201:Clca3a2 UTSW 3 144,813,923 (GRCm38) missense probably benign 0.00
R9261:Clca3a2 UTSW 3 144,819,397 (GRCm38) missense probably benign
R9469:Clca3a2 UTSW 3 144,802,177 (GRCm38) missense probably damaging 1.00
R9515:Clca3a2 UTSW 3 144,803,047 (GRCm38) nonsense probably null
R9569:Clca3a2 UTSW 3 144,807,314 (GRCm38) critical splice donor site probably null
R9664:Clca3a2 UTSW 3 144,797,814 (GRCm38) missense probably damaging 1.00
Predicted Primers
Posted On 2017-04-14