Incidental Mutation 'R5656:Clca3a2'
ID 442308
Institutional Source Beutler Lab
Gene Symbol Clca3a2
Ensembl Gene ENSMUSG00000028262
Gene Name chloride channel accessory 3A2
Synonyms Clca2
MMRRC Submission 043302-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5656 (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 144797632 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 852 (N852K)
Ref Sequence ENSEMBL: ENSMUSP00000029929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000199029]
AlphaFold Q9EQR4
Predicted Effect probably benign
Transcript: ENSMUST00000029929
AA Change: N852K

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: N852K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 306 478 1.5e-21 SMART
FN3 758 857 5.49e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197013
Predicted Effect probably benign
Transcript: ENSMUST00000199029
SMART Domains Protein: ENSMUSP00000143543
Gene: ENSMUSG00000028262

DomainStartEndE-ValueType
Pfam:CLCA 1 188 6.5e-77 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 105,709,512 (GRCm38) S139G probably benign Het
Adrb3 T C 8: 27,227,377 (GRCm38) D348G probably damaging Het
Atg2b A G 12: 105,621,328 (GRCm38) V1959A probably benign Het
Bicral G A 17: 46,808,369 (GRCm38) T742M probably damaging Het
Bub1b T A 2: 118,605,431 (GRCm38) I60N probably damaging Het
Ccdc162 A G 10: 41,569,934 (GRCm38) V414A probably benign Het
Cd22 T G 7: 30,869,773 (GRCm38) Y612S probably damaging Het
Cd68 T A 11: 69,664,421 (GRCm38) I320F probably damaging Het
Cpa6 T A 1: 10,329,514 (GRCm38) H363L probably benign Het
Ddx18 A T 1: 121,561,358 (GRCm38) L320Q probably damaging Het
Dnah5 A G 15: 28,421,064 (GRCm38) D3849G probably benign Het
Eci1 T A 17: 24,437,309 (GRCm38) N164K probably damaging Het
Efs T C 14: 54,917,127 (GRCm38) T552A probably damaging Het
Fbp1 C A 13: 62,875,196 (GRCm38) V96L probably damaging Het
Gtf3c1 T A 7: 125,662,654 (GRCm38) N1139I probably benign Het
Gucy1b2 T C 14: 62,422,981 (GRCm38) Y152C probably damaging Het
Gxylt1 A T 15: 93,245,661 (GRCm38) L362Q probably damaging Het
Iqcd A G 5: 120,605,126 (GRCm38) probably null Het
Klhl41 T A 2: 69,683,532 (GRCm38) I585N possibly damaging Het
Map6 A G 7: 99,336,298 (GRCm38) K470E probably damaging Het
Mast3 T C 8: 70,786,221 (GRCm38) T496A probably damaging Het
Mbd6 A T 10: 127,285,286 (GRCm38) probably benign Het
Melk A G 4: 44,312,237 (GRCm38) K183R possibly damaging Het
Mta1 T C 12: 113,123,139 (GRCm38) V152A probably damaging Het
Naa35 G A 13: 59,622,866 (GRCm38) probably benign Het
Nav3 A C 10: 109,764,633 (GRCm38) S1378A probably damaging Het
Ncapd3 T A 9: 27,051,645 (GRCm38) D415E possibly damaging Het
Nlrp4f G A 13: 65,190,871 (GRCm38) R651* probably null Het
Or1e1f T A 11: 73,964,710 (GRCm38) M34K probably damaging Het
Or5b121 A G 19: 13,530,380 (GRCm38) T280A probably benign Het
Or5p72 A G 7: 108,422,618 (GRCm38) I16V probably benign Het
P2rx7 A T 5: 122,673,717 (GRCm38) R364W probably damaging Het
Phactr2 T C 10: 13,388,703 (GRCm38) D2G probably benign Het
Phc3 G T 3: 30,965,866 (GRCm38) S28R probably damaging Het
Ppfia1 A T 7: 144,519,974 (GRCm38) probably null Het
Prdm10 C T 9: 31,353,417 (GRCm38) T667M probably benign Het
Pwwp2b T A 7: 139,255,971 (GRCm38) S443T possibly damaging Het
Pzp T C 6: 128,490,072 (GRCm38) T1113A probably damaging Het
Rapgef6 A G 11: 54,636,136 (GRCm38) E551G possibly damaging Het
Sec23ip A G 7: 128,776,784 (GRCm38) Y774C probably damaging Het
Setdb2 T C 14: 59,419,118 (GRCm38) D266G probably damaging Het
Shank1 T C 7: 44,352,886 (GRCm38) V1343A probably benign Het
Slf2 T A 19: 44,973,235 (GRCm38) D1064E probably benign Het
Slu7 A G 11: 43,443,418 (GRCm38) K424E probably benign Het
Smg1 A T 7: 118,154,664 (GRCm38) probably benign Het
Sptlc2 A T 12: 87,346,761 (GRCm38) L264Q probably damaging Het
Sra1 A G 18: 36,678,407 (GRCm38) S93P probably damaging Het
Sult1c1 T C 17: 53,964,652 (GRCm38) E169G probably benign Het
Sv2a A G 3: 96,185,572 (GRCm38) D196G probably damaging Het
Tbc1d22b A G 17: 29,594,780 (GRCm38) I362M probably damaging Het
Tenm3 T C 8: 48,228,762 (GRCm38) D2611G probably damaging Het
Tmem43 T C 6: 91,480,708 (GRCm38) F191L probably benign Het
Trbv13-2 T A 6: 41,121,694 (GRCm38) Y68N probably benign Het
Ttn T G 2: 76,774,654 (GRCm38) D18312A possibly damaging Het
Ublcp1 A G 11: 44,465,606 (GRCm38) V95A probably damaging Het
Usp17ld A G 7: 103,250,840 (GRCm38) V295A probably damaging Het
Vmn1r29 T A 6: 58,308,167 (GRCm38) L291M possibly damaging Het
Vsig10l C T 7: 43,464,151 (GRCm38) R176* probably null Het
Zbtb46 A G 2: 181,423,417 (GRCm38) probably null Het
Zfp644 A G 5: 106,637,982 (GRCm38) V233A 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
R4802: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
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 PCR Primer
(F):5'- AGGCAGCCTTTGAGTGTAGTAAAG -3'
(R):5'- CATCAGAGTGAGCCAGCATC -3'

Sequencing Primer
(F):5'- CAGTCAGCAAATATATACAGGGTTGC -3'
(R):5'- ATCCTCTGGGTCTCCAAGAAG -3'
Posted On 2016-11-09