Incidental Mutation 'R0479:Clca3a2'
ID 43252
Institutional Source Beutler Lab
Gene Symbol Clca3a2
Ensembl Gene ENSMUSG00000028262
Gene Name chloride channel accessory 3A2
Synonyms Clca2
MMRRC Submission 038679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R0479 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 3
Chromosomal Location 144502320-144525255 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 144796610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 199 (D199A)
Ref Sequence ENSEMBL: ENSMUSP00000143161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040465] [ENSMUST00000198993]
AlphaFold Q9EQR4
Predicted Effect probably damaging
Transcript: ENSMUST00000040465
AA Change: D199A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036029
Gene: ENSMUSG00000036960
AA Change: D199A

DomainStartEndE-ValueType
low complexity region 15 29 N/A INTRINSIC
VWA 309 485 3.55e-5 SMART
low complexity region 739 754 N/A INTRINSIC
Blast:FN3 765 875 5e-21 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000198993
AA Change: D199A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143161
Gene: ENSMUSG00000036960
AA Change: D199A

DomainStartEndE-ValueType
Pfam:CLCA_N 7 265 1.7e-121 PFAM
VWA 309 485 2.2e-7 SMART
Pfam:DUF1973 494 674 7.8e-75 PFAM
Meta Mutation Damage Score 0.1271 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 98% (105/107)
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 A G 1: 173,159,712 (GRCm39) V269A probably benign Het
Acsl1 G A 8: 46,984,109 (GRCm39) G543R probably damaging Het
Adam18 T C 8: 25,141,838 (GRCm39) N244D probably benign Het
Adgra3 C T 5: 50,147,607 (GRCm39) V478M probably benign Het
Arhgap39 C T 15: 76,619,086 (GRCm39) D833N probably damaging Het
Arhgef10 A T 8: 15,041,070 (GRCm39) E723V probably damaging Het
Arid3a C A 10: 79,787,128 (GRCm39) N519K possibly damaging Het
Atrn T A 2: 130,841,085 (GRCm39) Y1162* probably null Het
Cacng5 T A 11: 107,768,777 (GRCm39) N172Y probably benign Het
Cct8 C T 16: 87,284,594 (GRCm39) V198M probably damaging Het
Cep192 G A 18: 67,991,089 (GRCm39) S1857N probably damaging Het
Cherp A T 8: 73,216,991 (GRCm39) D657E possibly damaging Het
Cops7b A G 1: 86,532,798 (GRCm39) T219A probably benign Het
Crb1 C T 1: 139,126,352 (GRCm39) M1392I probably damaging Het
Csf3r A C 4: 125,937,616 (GRCm39) E833D probably damaging Het
Cutc A G 19: 43,756,655 (GRCm39) E247G probably damaging Het
Cyp2c38 A G 19: 39,451,449 (GRCm39) L17P probably damaging Het
D5Ertd615e T A 5: 45,320,796 (GRCm39) noncoding transcript Het
Ddx60 G T 8: 62,422,691 (GRCm39) G643W probably damaging Het
Depdc1a C T 3: 159,226,497 (GRCm39) T268I probably damaging Het
Dgke T C 11: 88,943,296 (GRCm39) E231G probably benign Het
Dhrs7b T A 11: 60,746,513 (GRCm39) probably benign Het
Dll3 A G 7: 28,000,974 (GRCm39) V27A probably damaging Het
Dnmt3c T A 2: 153,556,861 (GRCm39) probably null Het
Duox1 T C 2: 122,176,861 (GRCm39) F1461L probably damaging Het
Enpep A G 3: 129,106,323 (GRCm39) V301A possibly damaging Het
Eny2 T A 15: 44,299,000 (GRCm39) probably null Het
Esr1 A G 10: 4,947,911 (GRCm39) D488G probably damaging Het
Ets1 A G 9: 32,641,476 (GRCm39) K110E probably damaging Het
Eya2 T A 2: 165,557,876 (GRCm39) Y157* probably null Het
F830045P16Rik T G 2: 129,314,608 (GRCm39) D223A possibly damaging Het
Fbh1 A G 2: 11,763,230 (GRCm39) Y475H probably damaging Het
Fbxo39 T C 11: 72,208,419 (GRCm39) I257T probably damaging Het
Fkbp10 T C 11: 100,306,740 (GRCm39) V23A probably damaging Het
Foxp3 A G X: 7,453,583 (GRCm39) I128V possibly damaging Het
Fzd7 T C 1: 59,522,867 (GRCm39) F250S probably damaging Het
Gaa A G 11: 119,172,062 (GRCm39) T722A possibly damaging Het
Gemin5 A G 11: 58,030,377 (GRCm39) V816A probably benign Het
Glb1l3 T A 9: 26,740,389 (GRCm39) T314S probably benign Het
H2-Ab1 A G 17: 34,483,942 (GRCm39) E101G possibly damaging Het
Hydin A C 8: 111,325,720 (GRCm39) T4710P probably damaging Het
Ica1 C T 6: 8,754,627 (GRCm39) V48M probably damaging Het
Ica1 T C 6: 8,754,683 (GRCm39) Y29C probably damaging Het
Ints7 T A 1: 191,346,666 (GRCm39) probably null Het
Iqub T C 6: 24,505,809 (GRCm39) E33G probably benign Het
Itgb1bp2 T A X: 100,492,806 (GRCm39) C10S probably damaging Het
Katnip T C 7: 125,442,518 (GRCm39) L809S probably benign Het
Kcnd1 T A X: 7,697,461 (GRCm39) I391N possibly damaging Het
Kdm8 T C 7: 125,051,812 (GRCm39) L135P probably damaging Het
Ksr1 T C 11: 78,916,109 (GRCm39) D574G probably damaging Het
Lama5 C T 2: 179,826,250 (GRCm39) R2331H probably benign Het
Larp1 C A 11: 57,933,646 (GRCm39) N357K possibly damaging Het
Lgi3 C T 14: 70,771,992 (GRCm39) probably benign Het
Lmbrd1 T A 1: 24,785,878 (GRCm39) probably benign Het
Methig1 A T 15: 100,272,825 (GRCm39) K53* probably null Het
Mfap3 T A 11: 57,420,469 (GRCm39) I150N probably damaging Het
Mug1 A T 6: 121,817,186 (GRCm39) Q85L probably benign Het
Npl A G 1: 153,391,155 (GRCm39) V200A probably damaging Het
Nuf2 A T 1: 169,326,503 (GRCm39) probably benign Het
Obscn A G 11: 59,003,533 (GRCm39) V1255A probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5h18 C T 16: 58,847,491 (GRCm39) V260M possibly damaging Het
Or8b51 T C 9: 38,569,478 (GRCm39) D70G probably damaging Het
P2rx1 T C 11: 72,903,787 (GRCm39) V283A probably damaging Het
Pex2 C A 3: 5,626,355 (GRCm39) L151F probably damaging Het
Pias1 A G 9: 62,800,400 (GRCm39) probably benign Het
Pmfbp1 A T 8: 110,257,105 (GRCm39) probably benign Het
Pogz A G 3: 94,783,947 (GRCm39) K545E possibly damaging Het
Ppp3cb T C 14: 20,553,309 (GRCm39) probably null Het
Prl G A 13: 27,248,911 (GRCm39) D189N probably damaging Het
Prpf6 A G 2: 181,292,920 (GRCm39) N794S probably benign Het
Prr36 G A 8: 4,263,930 (GRCm39) Q579* probably null Het
Ptprq A T 10: 107,479,855 (GRCm39) Y1138* probably null Het
Rabepk A T 2: 34,675,592 (GRCm39) H179Q probably damaging Het
Rest T C 5: 77,430,598 (GRCm39) S1006P probably damaging Het
Rimklb A C 6: 122,441,175 (GRCm39) probably benign Het
Rnpepl1 T C 1: 92,846,587 (GRCm39) probably benign Het
Ro60 A T 1: 143,633,489 (GRCm39) D536E possibly damaging Het
Sacs T A 14: 61,428,928 (GRCm39) L329Q probably damaging Het
Safb C T 17: 56,913,025 (GRCm39) R914C probably damaging Het
Setd5 A T 6: 113,091,994 (GRCm39) I272F probably damaging Het
Sgk1 G T 10: 21,872,209 (GRCm39) A262S probably benign Het
Skint2 G A 4: 112,481,238 (GRCm39) V34I possibly damaging Het
Skint5 G C 4: 113,512,869 (GRCm39) Q888E unknown Het
Slc4a3 T C 1: 75,528,472 (GRCm39) probably benign Het
Sox10 T C 15: 79,047,519 (GRCm39) E133G probably damaging Het
Spryd3 G A 15: 102,038,835 (GRCm39) R129* probably null Het
Stag1 T A 9: 100,810,144 (GRCm39) N782K probably benign Het
Stam T C 2: 14,122,306 (GRCm39) L132P probably damaging Het
Stard9 T A 2: 120,528,077 (GRCm39) S1445T probably damaging Het
Syt5 C T 7: 4,546,108 (GRCm39) R94Q probably benign Het
Tbc1d23 A T 16: 56,992,177 (GRCm39) H594Q probably damaging Het
Tecta T A 9: 42,249,235 (GRCm39) I1871F probably damaging Het
Tek A G 4: 94,692,549 (GRCm39) D219G probably benign Het
Thrb T C 14: 18,033,643 (GRCm38) F469L probably damaging Het
Tyr T C 7: 87,142,429 (GRCm39) S44G possibly damaging Het
Usp20 T A 2: 30,907,487 (GRCm39) V673E probably benign Het
Usp28 T C 9: 48,948,513 (GRCm39) S873P probably damaging Het
Usp43 C T 11: 67,788,100 (GRCm39) V306M possibly damaging Het
Wdr17 G T 8: 55,104,456 (GRCm39) probably null Het
Wsb2 T G 5: 117,514,744 (GRCm39) probably benign Het
Xkrx A T X: 133,051,715 (GRCm39) L312Q probably damaging Het
Other mutations in Clca3a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Clca3a2 APN 3 144,804,574 (GRCm39) missense probably damaging 1.00
IGL01019:Clca3a2 APN 3 144,519,388 (GRCm39) nonsense probably null
IGL01337:Clca3a2 APN 3 144,800,939 (GRCm39) missense probably damaging 1.00
IGL01389:Clca3a2 APN 3 144,783,629 (GRCm39) critical splice donor site probably null
IGL01595:Clca3a2 APN 3 144,793,768 (GRCm39) missense probably damaging 1.00
IGL01663:Clca3a2 APN 3 144,522,916 (GRCm39) missense probably damaging 0.97
IGL01704:Clca3a2 APN 3 144,800,979 (GRCm39) missense probably benign 0.04
IGL01779:Clca3a2 APN 3 144,525,139 (GRCm39) missense possibly damaging 0.47
IGL02066:Clca3a2 APN 3 144,519,216 (GRCm39) missense probably benign
IGL02301:Clca3a2 APN 3 144,512,133 (GRCm39) missense probably damaging 0.98
IGL02416:Clca3a2 APN 3 144,790,777 (GRCm39) missense probably benign 0.02
IGL02455:Clca3a2 APN 3 144,787,172 (GRCm39) missense probably benign 0.00
IGL02481:Clca3a2 APN 3 144,790,701 (GRCm39) missense possibly damaging 0.92
IGL02526:Clca3a2 APN 3 144,793,779 (GRCm39) missense probably benign 0.02
IGL02619:Clca3a2 APN 3 144,512,083 (GRCm39) missense probably damaging 1.00
IGL02797:Clca3a2 APN 3 144,787,024 (GRCm39) missense probably benign 0.02
IGL02852:Clca3a2 APN 3 144,512,104 (GRCm39) missense probably damaging 0.98
IGL02901:Clca3a2 APN 3 144,522,529 (GRCm39) missense probably damaging 1.00
IGL03162:Clca3a2 APN 3 144,512,177 (GRCm39) missense probably damaging 1.00
IGL03253:Clca3a2 APN 3 144,777,324 (GRCm39) missense probably benign 0.41
IGL03256:Clca3a2 APN 3 144,792,153 (GRCm39) missense possibly damaging 0.75
IGL03294:Clca3a2 APN 3 144,803,530 (GRCm39) missense probably damaging 1.00
3370:Clca3a2 UTSW 3 144,783,738 (GRCm39) missense probably damaging 1.00
R0032:Clca3a2 UTSW 3 144,522,494 (GRCm39) missense probably benign 0.01
R0244:Clca3a2 UTSW 3 144,519,659 (GRCm39) missense possibly damaging 0.90
R0542:Clca3a2 UTSW 3 144,781,571 (GRCm39) splice site probably benign
R0629:Clca3a2 UTSW 3 144,778,000 (GRCm39) missense probably benign
R1249:Clca3a2 UTSW 3 144,508,765 (GRCm39) missense possibly damaging 0.80
R1370:Clca3a2 UTSW 3 144,519,624 (GRCm39) splice site probably benign
R1488:Clca3a2 UTSW 3 144,789,925 (GRCm39) missense possibly damaging 0.49
R1523:Clca3a2 UTSW 3 144,777,405 (GRCm39) nonsense probably null
R1568:Clca3a2 UTSW 3 144,781,410 (GRCm39) nonsense probably null
R1586:Clca3a2 UTSW 3 144,516,477 (GRCm39) missense possibly damaging 0.94
R1650:Clca3a2 UTSW 3 144,797,973 (GRCm39) missense probably damaging 1.00
R1771:Clca3a2 UTSW 3 144,787,171 (GRCm39) missense probably benign 0.12
R1776:Clca3a2 UTSW 3 144,519,681 (GRCm39) missense probably damaging 1.00
R1797:Clca3a2 UTSW 3 144,503,398 (GRCm39) missense probably benign 0.01
R1869:Clca3a2 UTSW 3 144,512,164 (GRCm39) missense probably benign 0.44
R1871:Clca3a2 UTSW 3 144,503,398 (GRCm39) missense probably benign 0.01
R1919:Clca3a2 UTSW 3 144,516,457 (GRCm39) missense probably benign
R1923:Clca3a2 UTSW 3 144,511,491 (GRCm39) missense probably damaging 1.00
R2101:Clca3a2 UTSW 3 144,783,699 (GRCm39) missense probably damaging 0.99
R2200:Clca3a2 UTSW 3 144,519,685 (GRCm39) missense probably benign 0.10
R2242:Clca3a2 UTSW 3 144,796,551 (GRCm39) missense probably damaging 0.98
R2324:Clca3a2 UTSW 3 144,512,041 (GRCm39) critical splice donor site probably null
R2937:Clca3a2 UTSW 3 144,519,679 (GRCm39) missense probably benign 0.06
R3429:Clca3a2 UTSW 3 144,512,088 (GRCm39) missense probably benign 0.07
R3434:Clca3a2 UTSW 3 144,514,522 (GRCm39) unclassified probably benign
R3551:Clca3a2 UTSW 3 144,508,842 (GRCm39) missense probably damaging 1.00
R3751:Clca3a2 UTSW 3 144,777,216 (GRCm39) missense probably benign 0.04
R3952:Clca3a2 UTSW 3 144,508,822 (GRCm39) missense probably damaging 1.00
R4120:Clca3a2 UTSW 3 144,516,613 (GRCm39) missense probably benign 0.25
R4383:Clca3a2 UTSW 3 144,512,081 (GRCm39) missense probably benign 0.02
R4496:Clca3a2 UTSW 3 144,797,926 (GRCm39) missense possibly damaging 0.94
R4518:Clca3a2 UTSW 3 144,514,466 (GRCm39) missense probably damaging 1.00
R4598:Clca3a2 UTSW 3 144,511,444 (GRCm39) missense probably damaging 1.00
R4801:Clca3a2 UTSW 3 144,513,112 (GRCm39) missense possibly damaging 0.95
R4802:Clca3a2 UTSW 3 144,513,112 (GRCm39) missense possibly damaging 0.95
R4816:Clca3a2 UTSW 3 144,516,613 (GRCm39) missense probably benign 0.25
R4934:Clca3a2 UTSW 3 144,523,692 (GRCm39) missense probably damaging 1.00
R4942:Clca3a2 UTSW 3 144,512,263 (GRCm39) missense probably damaging 1.00
R4962:Clca3a2 UTSW 3 144,783,640 (GRCm39) missense probably damaging 1.00
R5123:Clca3a2 UTSW 3 144,512,104 (GRCm39) missense probably damaging 1.00
R5156:Clca3a2 UTSW 3 144,511,599 (GRCm39) missense probably benign 0.26
R5275:Clca3a2 UTSW 3 144,519,340 (GRCm39) missense probably damaging 1.00
R5344:Clca3a2 UTSW 3 144,793,703 (GRCm39) missense probably damaging 1.00
R5372:Clca3a2 UTSW 3 144,503,286 (GRCm39) missense probably benign 0.00
R5424:Clca3a2 UTSW 3 144,789,942 (GRCm39) missense probably damaging 0.99
R5656:Clca3a2 UTSW 3 144,503,393 (GRCm39) missense probably benign 0.26
R5931:Clca3a2 UTSW 3 144,797,886 (GRCm39) missense possibly damaging 0.88
R6059:Clca3a2 UTSW 3 144,516,531 (GRCm39) missense probably damaging 1.00
R6155:Clca3a2 UTSW 3 144,525,118 (GRCm39) missense probably damaging 0.99
R6181:Clca3a2 UTSW 3 144,796,469 (GRCm39) nonsense probably null
R6254:Clca3a2 UTSW 3 144,507,895 (GRCm39) missense probably benign
R6336:Clca3a2 UTSW 3 144,512,239 (GRCm39) missense probably benign
R6470:Clca3a2 UTSW 3 144,510,024 (GRCm39) splice site probably null
R6593:Clca3a2 UTSW 3 144,514,338 (GRCm39) critical splice donor site probably null
R6598:Clca3a2 UTSW 3 144,792,246 (GRCm39) nonsense probably null
R6631:Clca3a2 UTSW 3 144,519,405 (GRCm39) missense probably benign
R6826:Clca3a2 UTSW 3 144,523,815 (GRCm39) missense possibly damaging 0.46
R6836:Clca3a2 UTSW 3 144,512,144 (GRCm39) missense probably damaging 0.97
R6896:Clca3a2 UTSW 3 144,514,462 (GRCm39) missense probably damaging 1.00
R7167:Clca3a2 UTSW 3 144,803,545 (GRCm39) missense probably benign 0.40
R7211:Clca3a2 UTSW 3 144,519,775 (GRCm39) missense probably benign 0.00
R7229:Clca3a2 UTSW 3 144,789,869 (GRCm39) missense probably damaging 1.00
R7256:Clca3a2 UTSW 3 144,796,608 (GRCm39) missense probably damaging 0.99
R7324:Clca3a2 UTSW 3 144,514,372 (GRCm39) missense probably damaging 0.99
R7365:Clca3a2 UTSW 3 144,804,545 (GRCm39) missense probably damaging 1.00
R7411:Clca3a2 UTSW 3 144,507,860 (GRCm39) missense probably damaging 1.00
R7486:Clca3a2 UTSW 3 144,503,362 (GRCm39) missense probably damaging 1.00
R7491:Clca3a2 UTSW 3 144,519,340 (GRCm39) missense probably damaging 1.00
R7521:Clca3a2 UTSW 3 144,507,674 (GRCm39) makesense probably null
R7813:Clca3a2 UTSW 3 144,790,726 (GRCm39) missense probably benign 0.26
R7889:Clca3a2 UTSW 3 144,516,574 (GRCm39) nonsense probably null
R7946:Clca3a2 UTSW 3 144,513,075 (GRCm39) critical splice donor site probably null
R7991:Clca3a2 UTSW 3 144,519,756 (GRCm39) missense probably benign 0.00
R8022:Clca3a2 UTSW 3 144,511,527 (GRCm39) missense probably damaging 1.00
R8077:Clca3a2 UTSW 3 144,777,288 (GRCm39) missense possibly damaging 0.56
R8169:Clca3a2 UTSW 3 144,783,653 (GRCm39) missense probably damaging 1.00
R8290:Clca3a2 UTSW 3 144,793,719 (GRCm39) missense possibly damaging 0.93
R8300:Clca3a2 UTSW 3 144,804,692 (GRCm39) missense probably benign 0.00
R8344:Clca3a2 UTSW 3 144,511,703 (GRCm39) critical splice acceptor site probably null
R8350:Clca3a2 UTSW 3 144,783,668 (GRCm39) missense probably benign 0.19
R8367:Clca3a2 UTSW 3 144,523,508 (GRCm39) splice site probably null
R8371:Clca3a2 UTSW 3 144,513,114 (GRCm39) nonsense probably null
R8814:Clca3a2 UTSW 3 144,503,525 (GRCm39) missense probably benign 0.18
R8854:Clca3a2 UTSW 3 144,783,852 (GRCm39) missense possibly damaging 0.94
R8876:Clca3a2 UTSW 3 144,777,360 (GRCm39) missense probably benign 0.00
R8887:Clca3a2 UTSW 3 144,790,810 (GRCm39) nonsense probably null
R9006:Clca3a2 UTSW 3 144,783,789 (GRCm39) missense probably damaging 0.99
R9031:Clca3a2 UTSW 3 144,511,475 (GRCm39) missense probably damaging 1.00
R9069:Clca3a2 UTSW 3 144,519,447 (GRCm39) splice site probably benign
R9093:Clca3a2 UTSW 3 144,781,481 (GRCm39) missense probably benign 0.20
R9190:Clca3a2 UTSW 3 144,796,599 (GRCm39) missense probably benign 0.00
R9201:Clca3a2 UTSW 3 144,519,684 (GRCm39) missense probably benign 0.00
R9209:Clca3a2 UTSW 3 144,778,005 (GRCm39) missense probably benign 0.00
R9261:Clca3a2 UTSW 3 144,525,158 (GRCm39) missense probably benign
R9469:Clca3a2 UTSW 3 144,507,938 (GRCm39) missense probably damaging 1.00
R9501:Clca3a2 UTSW 3 144,777,322 (GRCm39) nonsense probably null
R9515:Clca3a2 UTSW 3 144,508,808 (GRCm39) nonsense probably null
R9569:Clca3a2 UTSW 3 144,513,075 (GRCm39) critical splice donor site probably null
R9664:Clca3a2 UTSW 3 144,503,575 (GRCm39) missense probably damaging 1.00
X0025:Clca3a2 UTSW 3 144,792,265 (GRCm39) missense possibly damaging 0.87
Z1177:Clca3a2 UTSW 3 144,792,212 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAAGGAGTTTGTCGTCCCAAGG -3'
(R):5'- AAGTCCACTGGAATGCTGATTCAGG -3'

Sequencing Primer
(F):5'- GTCGTCCCAAGGATGTACTTACAG -3'
(R):5'- TGGCAATACAAATGCTTGTCC -3'
Posted On 2013-05-23