Incidental Mutation 'R4942:Clca3a2'
ID 383168
Institutional Source Beutler Lab
Gene Symbol Clca3a2
Ensembl Gene ENSMUSG00000028262
Gene Name chloride channel accessory 3A2
Synonyms Clca2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4942 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 144796559-144819494 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144806502 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 491 (E491V)
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: E491V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: E491V

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: E51V
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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,770,472 (GRCm38) probably null Het
Adamts7 T C 9: 90,163,311 (GRCm38) S23P probably benign Het
Adamtsl1 T A 4: 86,341,214 (GRCm38) C824* probably null Het
Adgre1 A G 17: 57,406,903 (GRCm38) Y196C probably damaging Het
Arap1 A G 7: 101,401,802 (GRCm38) D542G possibly damaging Het
B3gat1 A G 9: 26,755,598 (GRCm38) D42G probably benign Het
Birc6 G A 17: 74,623,050 (GRCm38) A2412T probably damaging Het
Bnip5 T C 17: 28,903,258 (GRCm38) R420G probably benign Het
Bsn A G 9: 108,106,479 (GRCm38) Y3459H unknown Het
Cacnb1 T C 11: 98,002,983 (GRCm38) Y571C probably damaging Het
Cdk2ap2 G A 19: 4,097,508 (GRCm38) probably null Het
Cep57 A G 9: 13,813,427 (GRCm38) S265P probably damaging Het
Clca1 A G 3: 145,004,763 (GRCm38) I893T probably benign Het
Cldn10 G A 14: 118,788,313 (GRCm38) G53S possibly damaging Het
Cobl A T 11: 12,254,185 (GRCm38) I832N probably damaging Het
Col9a2 T C 4: 121,053,119 (GRCm38) V487A possibly damaging Het
Cse1l C T 2: 166,929,794 (GRCm38) T325I probably damaging Het
Dlx6 A G 6: 6,863,468 (GRCm38) Q30R probably benign Het
Dnah8 T C 17: 30,729,142 (GRCm38) V1902A probably benign Het
Dusp8 A G 7: 142,082,228 (GRCm38) F542L possibly damaging Het
Emid1 T G 11: 5,129,430 (GRCm38) M323L probably benign Het
Ercc5 A G 1: 44,175,965 (GRCm38) D886G probably benign Het
Fam184b T C 5: 45,573,307 (GRCm38) E461G probably damaging Het
Fbn1 C A 2: 125,383,616 (GRCm38) C572F possibly damaging Het
Gigyf1 G T 5: 137,525,690 (GRCm38) V1041L possibly damaging Het
Grin3b A G 10: 79,975,722 (GRCm38) H714R probably damaging Het
Heatr1 A G 13: 12,413,510 (GRCm38) probably null Het
Klk14 G A 7: 43,692,077 (GRCm38) C51Y probably damaging Het
Llgl1 C T 11: 60,709,568 (GRCm38) P581L probably benign Het
Lypd6b C A 2: 49,946,120 (GRCm38) H104Q probably benign Het
Man1a A T 10: 53,933,490 (GRCm38) probably null Het
Megf6 A T 4: 154,253,820 (GRCm38) D449V probably damaging Het
Mtor T C 4: 148,472,142 (GRCm38) V1003A probably benign Het
Ncan C A 8: 70,100,294 (GRCm38) W1096L probably damaging Het
Ndor1 C T 2: 25,248,121 (GRCm38) probably null Het
Ndufaf1 T C 2: 119,660,066 (GRCm38) E171G possibly damaging Het
Nell1 T C 7: 50,120,649 (GRCm38) V152A possibly damaging Het
Nherf4 C A 9: 44,248,618 (GRCm38) G402* probably null Het
Nt5dc1 A T 10: 34,322,677 (GRCm38) V255E probably damaging Het
Or2a20 T A 6: 43,216,994 (GRCm38) F27Y probably damaging Het
Or2y1b A T 11: 49,317,548 (GRCm38) M1L probably null Het
Or52h7 A G 7: 104,565,005 (GRCm38) I261M probably benign Het
Or52z14 G A 7: 103,604,194 (GRCm38) R180H probably benign Het
Otud7a T C 7: 63,757,423 (GRCm38) I50T probably damaging Het
P2ry13 G A 3: 59,209,562 (GRCm38) T265I probably benign Het
Pde4d A G 13: 108,860,199 (GRCm38) S12G probably benign Het
Pigk C A 3: 152,744,517 (GRCm38) N219K probably damaging Het
Plcg1 T A 2: 160,753,589 (GRCm38) probably null Het
Psd2 A T 18: 35,978,664 (GRCm38) D114V probably damaging Het
Ptch1 A T 13: 63,525,070 (GRCm38) I770N probably benign Het
Ptprq A T 10: 107,688,429 (GRCm38) M481K probably benign Het
Rnf216 A C 5: 143,093,059 (GRCm38) M45R probably damaging Het
Rpsa T A 9: 120,131,063 (GRCm38) W231R probably benign Het
Ryr1 G T 7: 29,069,573 (GRCm38) T2797N probably damaging Het
Ryr3 A T 2: 112,836,257 (GRCm38) M1468K probably damaging Het
Slc6a7 A G 18: 61,004,517 (GRCm38) Y244H probably damaging Het
Slco6c1 T A 1: 97,081,324 (GRCm38) D462V probably damaging Het
Spata31d1b A T 13: 59,717,103 (GRCm38) E688D possibly damaging Het
Srpra G A 9: 35,215,470 (GRCm38) R508H probably benign Het
Tnrc18 A T 5: 142,787,982 (GRCm38) I181N unknown Het
Tnrc6a T C 7: 123,192,613 (GRCm38) F1785L probably damaging Het
Trio A T 15: 27,752,725 (GRCm38) D2174E probably benign Het
Ttn C T 2: 76,793,256 (GRCm38) V15326I probably damaging Het
Ubap2 T A 4: 41,245,461 (GRCm38) probably benign Het
Vmn2r113 C T 17: 22,958,347 (GRCm38) P702S probably damaging Het
Vmn2r66 A T 7: 85,007,772 (GRCm38) W142R probably damaging Het
Vmn2r73 A G 7: 85,870,374 (GRCm38) Y459H probably damaging Het
Wsb2 C T 5: 117,377,485 (GRCm38) T385M 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
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 PCR Primer
(F):5'- CGAGCAGACCGGATGTTTAG -3'
(R):5'- TCAGTACATGCACAGGAGGG -3'

Sequencing Primer
(F):5'- GCAGACCGGATGTTTAGTTCATCATC -3'
(R):5'- TACATGCACAGGAGGGGAGAG -3'
Posted On 2016-04-27