Incidental Mutation 'R5156:Clca3a2'
ID 396719
Institutional Source Beutler Lab
Gene Symbol Clca3a2
Ensembl Gene ENSMUSG00000028262
Gene Name chloride channel accessory 3A2
Synonyms Clca2
MMRRC Submission 042738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5156 (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 144805838 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 599 (T599S)
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: T599S

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: T599S

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: T159S
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G T 17: 79,628,209 (GRCm38) probably benign Het
Apeh C T 9: 108,094,287 (GRCm38) A29T probably damaging Het
Arap2 A T 5: 62,669,181 (GRCm38) Y1013* probably null Het
Arhgef4 A G 1: 34,723,274 (GRCm38) E537G unknown Het
Asf1b T C 8: 83,955,911 (GRCm38) F28S probably damaging Het
Cd46 T A 1: 195,085,385 (GRCm38) I123L possibly damaging Het
Cdca7 A T 2: 72,479,026 (GRCm38) T48S probably damaging Het
Cfap53 T A 18: 74,359,767 (GRCm38) probably benign Het
Csf1 T A 3: 107,748,936 (GRCm38) T148S probably benign Het
Dmbt1 T C 7: 131,097,670 (GRCm38) probably null Het
Dmpk A G 7: 19,084,125 (GRCm38) D44G probably damaging Het
Dnajb12 T A 10: 59,892,960 (GRCm38) N223K probably damaging Het
Dync1h1 T A 12: 110,628,830 (GRCm38) M1392K probably benign Het
Edrf1 C T 7: 133,660,179 (GRCm38) A867V probably damaging Het
Efemp2 T A 19: 5,477,678 (GRCm38) C94S possibly damaging Het
Epha8 C T 4: 136,938,726 (GRCm38) S373N probably benign Het
Foxk1 A G 5: 142,448,833 (GRCm38) D284G possibly damaging Het
Fzd10 C A 5: 128,601,302 (GRCm38) R29S possibly damaging Het
Gm13991 T C 2: 116,528,184 (GRCm38) noncoding transcript Het
Gm6818 A T 7: 38,402,047 (GRCm38) noncoding transcript Het
Hydin T A 8: 110,609,701 (GRCm38) C5037S probably benign Het
Ikzf1 T A 11: 11,769,448 (GRCm38) M492K probably damaging Het
Krt20 G T 11: 99,430,053 (GRCm38) S394R possibly damaging Het
Lrrc71 T A 3: 87,745,787 (GRCm38) R107S probably benign Het
Mia2 A G 12: 59,172,537 (GRCm38) T436A possibly damaging Het
Muc19 T A 15: 91,900,420 (GRCm38) noncoding transcript Het
Neu4 T C 1: 94,024,455 (GRCm38) V182A probably damaging Het
Notch2 T G 3: 98,124,310 (GRCm38) F1167V possibly damaging Het
Nrap A G 19: 56,371,845 (GRCm38) M189T possibly damaging Het
Nt5m A T 11: 59,874,661 (GRCm38) I172F probably damaging Het
Or5b118 G T 19: 13,471,673 (GRCm38) K234N probably damaging Het
Or5w15 G A 2: 87,737,775 (GRCm38) P183L possibly damaging Het
Or8k41 A T 2: 86,483,018 (GRCm38) C241* probably null Het
Plekha5 C T 6: 140,426,528 (GRCm38) T68M probably damaging Het
Ppef2 A G 5: 92,244,602 (GRCm38) probably null Het
Ppp1r37 T C 7: 19,561,975 (GRCm38) probably benign Het
Rfx4 T C 10: 84,868,354 (GRCm38) Y238H probably damaging Het
Sanbr A G 11: 23,593,424 (GRCm38) probably null Het
Sec13 G A 6: 113,730,876 (GRCm38) A161V probably benign Het
Serhl G A 15: 83,102,694 (GRCm38) probably benign Het
Slco4a1 T C 2: 180,472,779 (GRCm38) V588A probably benign Het
Slitrk3 T C 3: 73,049,259 (GRCm38) T727A probably benign Het
Sp100 T A 1: 85,673,683 (GRCm38) D241E probably damaging Het
Spata2 G T 2: 167,483,574 (GRCm38) H442N probably damaging Het
Speg T C 1: 75,428,087 (GRCm38) V2588A probably damaging Het
Tnfsf12 A G 11: 69,687,329 (GRCm38) S141P probably damaging Het
Trank1 A G 9: 111,390,694 (GRCm38) I2166M probably damaging Het
Trim10 T A 17: 36,877,056 (GRCm38) V388E probably damaging Het
Ttc23l G T 15: 10,551,550 (GRCm38) T30K possibly damaging Het
Vmn2r10 A G 5: 108,995,600 (GRCm38) V828A probably benign Het
Vmn2r75 T A 7: 86,164,228 (GRCm38) L455F possibly damaging Het
Vwa8 T A 14: 78,984,226 (GRCm38) S541T 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
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'- GATACAGGCTCCCATTACCTGC -3'
(R):5'- ACAGTTGTTTACCATGCGTAAGG -3'

Sequencing Primer
(F):5'- ACCTGCCCCATTGTCCCATAG -3'
(R):5'- GTAAGGCGTGAGTTCCATATTCACC -3'
Posted On 2016-06-21