Incidental Mutation 'R5123:Clca3a2'
ID 393388
Institutional Source Beutler Lab
Gene Symbol Clca3a2
Ensembl Gene ENSMUSG00000028262
Gene Name chloride channel accessory 3A2
Synonyms Clca2
MMRRC Submission 042711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5123 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 144796559-144819494 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144806343 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 544 (D544V)
Ref Sequence ENSEMBL: ENSMUSP00000029929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000199029]
AlphaFold Q9EQR4
Predicted Effect probably damaging
Transcript: ENSMUST00000029929
AA Change: D544V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: D544V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 306 478 1.5e-21 SMART
FN3 758 857 5.49e0 SMART
Predicted Effect unknown
Transcript: ENSMUST00000197013
AA Change: D104V
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 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,384,460 (GRCm38) G542D possibly damaging Het
Adh6b A G 3: 138,357,689 (GRCm38) Y343C probably damaging Het
Adsl T A 15: 80,952,294 (GRCm38) probably null Het
Apob T A 12: 8,007,630 (GRCm38) probably null Het
Atp6ap1l T A 13: 90,898,898 (GRCm38) probably benign Het
Cacnb3 A G 15: 98,639,869 (GRCm38) D74G probably damaging Het
Col3a1 G A 1: 45,333,596 (GRCm38) probably benign Het
D7Ertd443e A G 7: 134,349,668 (GRCm38) probably null Het
Dscam T C 16: 96,772,437 (GRCm38) D775G probably damaging Het
Eif2b3 T A 4: 117,022,211 (GRCm38) M16K probably damaging Het
Eml5 T C 12: 98,874,512 (GRCm38) Y281C probably damaging Het
Epha2 T A 4: 141,308,865 (GRCm38) L204Q possibly damaging Het
Filip1l A C 16: 57,570,662 (GRCm38) I538L possibly damaging Het
Gcnt2 T A 13: 40,918,355 (GRCm38) V158D probably damaging Het
Gnaq A G 19: 16,332,085 (GRCm38) N162S probably benign Het
Haus5 A T 7: 30,654,226 (GRCm38) N575K probably benign Het
Hjurp A T 1: 88,275,050 (GRCm38) Y71N possibly damaging Het
Igsf5 A G 16: 96,373,079 (GRCm38) D103G probably damaging Het
Myo10 A G 15: 25,726,483 (GRCm38) D297G possibly damaging Het
Net1 C T 13: 3,886,623 (GRCm38) R314H probably damaging Het
Olfr1273-ps C A 2: 90,296,168 (GRCm38) R231L probably benign Het
Olfr1301 T A 2: 111,754,552 (GRCm38) V101D probably damaging Het
Pcsk4 C A 10: 80,322,145 (GRCm38) Q586H probably null Het
Pramef6 A T 4: 143,897,136 (GRCm38) M156K probably benign Het
Prss1 A G 6: 41,463,197 (GRCm38) D156G possibly damaging Het
Rnf133 A T 6: 23,649,260 (GRCm38) N266K probably damaging Het
Setd2 G T 9: 110,617,527 (GRCm38) A2482S possibly damaging Het
Sgo2a A T 1: 58,016,567 (GRCm38) S637C probably damaging Het
Slc2a5 C A 4: 150,139,805 (GRCm38) S290* probably null Het
Spata6 T G 4: 111,768,795 (GRCm38) H120Q possibly damaging Het
Stk11 G A 10: 80,127,941 (GRCm38) V194I probably damaging Het
Tkt T C 14: 30,565,646 (GRCm38) V199A probably benign Het
Traf3 G A 12: 111,243,518 (GRCm38) V183M possibly damaging Het
Trappc11 T C 8: 47,513,402 (GRCm38) Y483C probably damaging Het
Trappc9 T C 15: 72,913,366 (GRCm38) probably benign Het
Trim59 T C 3: 69,037,734 (GRCm38) H91R probably benign Het
Ttc21a A G 9: 119,952,212 (GRCm38) S484G probably benign Het
Usp13 A T 3: 32,915,798 (GRCm38) H691L probably benign Het
Vmn1r238 T C 18: 3,123,243 (GRCm38) Y57C probably benign Het
Vmn2r111 T A 17: 22,571,143 (GRCm38) Q294L possibly damaging Het
Vmn2r17 A G 5: 109,427,908 (GRCm38) D215G possibly damaging Het
Wdr66 A G 5: 123,273,633 (GRCm38) probably benign Het
Zfp280b A G 10: 76,039,349 (GRCm38) D354G probably benign Het
Zfp607a A G 7: 27,879,098 (GRCm38) H531R probably damaging Het
Zfp74 A T 7: 29,934,733 (GRCm38) C517S probably damaging 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
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 PCR Primer
(F):5'- AGACCTACATTGCTAACCTCAATACTG -3'
(R):5'- TACAGTTGGAGAGCAAAGCC -3'

Sequencing Primer
(F):5'- ACCTCAATACTGATTTTAATGGGTG -3'
(R):5'- TTGGAGAGCAAAGCCTTCAATGTC -3'
Posted On 2016-06-15