Incidental Mutation 'R9515:Clca3a2'
ID 718444
Institutional Source Beutler Lab
Gene Symbol Clca3a2
Ensembl Gene ENSMUSG00000028262
Gene Name chloride channel accessory 3A2
Synonyms Clca2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock # R9515 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 144796559-144819494 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 144803047 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 670 (Y670*)
Ref Sequence ENSEMBL: ENSMUSP00000029929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029929] [ENSMUST00000199029]
AlphaFold Q9EQR4
Predicted Effect probably null
Transcript: ENSMUST00000029929
AA Change: Y670*
SMART Domains Protein: ENSMUSP00000029929
Gene: ENSMUSG00000028262
AA Change: Y670*

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 null
Transcript: ENSMUST00000199029
AA Change: Y61*
SMART Domains Protein: ENSMUSP00000143543
Gene: ENSMUSG00000028262
AA Change: Y61*

DomainStartEndE-ValueType
Pfam:CLCA 1 188 6.5e-77 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 29,247,623 probably benign Het
Aamdc A G 7: 97,575,601 V18A probably benign Het
Adam12 T A 7: 133,907,644 I796F probably benign Het
Adcy7 T A 8: 88,311,018 V238E possibly damaging Het
Adgrv1 G A 13: 81,543,378 H1697Y probably damaging Het
Adrb1 A G 19: 56,723,393 D341G probably benign Het
Akap13 T C 7: 75,704,527 Y80H probably benign Het
Akap9 C T 5: 4,055,709 L2927F probably damaging Het
Alox8 T A 11: 69,185,124 D667V probably damaging Het
Arhgap30 A G 1: 171,408,434 E792G probably benign Het
Arhgef16 A G 4: 154,280,975 V561A possibly damaging Het
Bcap29 A T 12: 31,626,757 Y105N probably damaging Het
Best2 T A 8: 85,013,518 T6S Het
Bfsp2 C A 9: 103,480,052 V59L possibly damaging Het
Brd3 T A 2: 27,459,803 D246V Het
Btnl1 T A 17: 34,381,144 V207E probably benign Het
C87499 T A 4: 88,627,982 L374F possibly damaging Het
Ccdc122 T A 14: 77,091,968 Y154N Het
Cfap43 A G 19: 47,785,375 Y656H probably damaging Het
Coprs T C 8: 13,885,081 Y158C probably damaging Het
Desi2 T G 1: 178,256,604 M106R unknown Het
Dnaaf3 T C 7: 4,528,101 E111G probably damaging Het
Epha10 T A 4: 124,881,911 F13I probably benign Het
Fam193a T A 5: 34,458,027 F813L possibly damaging Het
Fbn1 C A 2: 125,365,631 A981S probably benign Het
Gga2 T A 7: 122,012,225 T37S probably damaging Het
Glra3 T A 8: 56,125,264 F452Y probably damaging Het
Gm10338 T A 14: 7,594,512 N96I probably damaging Het
Gm6502 G A 5: 94,317,065 V437I probably benign Het
Gpd2 A T 2: 57,305,854 E149V possibly damaging Het
Gpr137c T G 14: 45,278,772 L321* probably null Het
Gsdmc2 T C 15: 63,830,829 I196M probably benign Het
Habp2 A G 19: 56,306,821 D48G probably benign Het
Hdc G T 2: 126,616,229 P58T probably damaging Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,887,919 probably benign Het
Hnrnpr G T 4: 136,336,304 V342F probably damaging Het
Hyal6 T A 6: 24,734,930 Y287* probably null Het
Igsf8 T C 1: 172,318,958 Y571H Het
Kalrn A G 16: 34,034,494 S1999P probably damaging Het
Lama2 T A 10: 27,001,174 N2672I probably benign Het
Lrrc7 T C 3: 158,161,468 R879G probably damaging Het
Lrwd1 T G 5: 136,131,559 H307P probably benign Het
Mau2 T C 8: 70,027,503 Y318C probably damaging Het
Med13 T C 11: 86,308,901 Q660R probably benign Het
Mepce G C 5: 137,785,497 P189R probably damaging Het
Mical3 T A 6: 121,024,797 N578I probably damaging Het
Mug1 T C 6: 121,884,676 S1366P probably damaging Het
Nol11 A T 11: 107,173,452 D511E possibly damaging Het
Obscn T A 11: 59,103,514 H1514L probably benign Het
Olfr1021-ps1 A T 2: 85,863,578 I56F probably damaging Het
Olfr1308 A G 2: 111,960,239 V278A possibly damaging Het
Olfr1464-ps1 G A 19: 13,282,194 T288I unknown Het
Olfr1537 T C 9: 39,238,329 T32A probably benign Het
Olfr168 C T 16: 19,530,276 A215T probably benign Het
Olfr854 T C 9: 19,567,100 I95V possibly damaging Het
Olfr860 A G 9: 19,846,520 L33P possibly damaging Het
Onecut3 C A 10: 80,496,053 S349* probably null Het
Patl2 C T 2: 122,124,893 G297E probably benign Het
Pdlim5 G A 3: 142,304,350 T168M probably damaging Het
Pdzd2 A C 15: 12,374,535 L1838R probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 probably benign Het
Pkd1l3 T C 8: 109,669,217 V2083A probably damaging Het
Pkhd1 T A 1: 20,567,517 Y348F probably damaging Het
Plekhg5 T A 4: 152,114,369 S1005T probably benign Het
Ppp4r1 T A 17: 65,835,078 N709K probably null Het
Reln T C 5: 21,920,510 D2725G possibly damaging Het
Rnf41 T A 10: 128,438,430 I317K probably benign Het
Rxfp2 T C 5: 150,055,979 V268A possibly damaging Het
Sema5a A G 15: 32,679,227 H884R probably damaging Het
Serpinh1 A T 7: 99,347,277 M236K probably damaging Het
Sh3pxd2a A G 19: 47,267,171 L1064P probably damaging Het
Skint6 T C 4: 112,858,178 H947R probably benign Het
Slc12a3 T A 8: 94,357,030 M895K possibly damaging Het
Slc22a3 C A 17: 12,507,170 R52L probably damaging Het
Slc38a1 A G 15: 96,590,084 L180P probably damaging Het
Slc4a3 T C 1: 75,556,968 V1078A probably damaging Het
Snx30 T A 4: 59,879,241 V160E probably damaging Het
Spata18 A T 5: 73,672,497 I332F Het
Stard9 C G 2: 120,704,083 P3607R probably damaging Het
Svep1 T A 4: 58,084,144 Y1876F possibly damaging Het
Sytl1 A G 4: 133,258,980 probably null Het
Tacc2 A C 7: 130,764,311 K567Q probably damaging Het
Tfr2 A G 5: 137,577,507 D295G possibly damaging Het
Tmem53 C A 4: 117,267,925 H78Q probably benign Het
Tnnt2 G A 1: 135,840,902 E10K unknown Het
Top2a T A 11: 99,012,144 I406F probably damaging Het
Ttc1 C A 11: 43,730,478 R292I Het
Ubr1 T G 2: 120,873,146 T1568P probably damaging Het
Usp25 T G 16: 77,055,188 V197G probably damaging Het
Usp9y A T Y: 1,432,188 N432K probably benign Het
Vmn2r26 T A 6: 124,061,178 Y571N probably damaging Het
Zfp7 T C 15: 76,891,284 S509P probably damaging Het
Other mutations in Clca3a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Clca3a2 APN 3 144813627 nonsense probably null
IGL01663:Clca3a2 APN 3 144817155 missense probably damaging 0.97
IGL01779:Clca3a2 APN 3 144819378 missense possibly damaging 0.47
IGL02066:Clca3a2 APN 3 144813455 missense probably benign
IGL02301:Clca3a2 APN 3 144806372 missense probably damaging 0.98
IGL02619:Clca3a2 APN 3 144806322 missense probably damaging 1.00
IGL02852:Clca3a2 APN 3 144806343 missense probably damaging 0.98
IGL02901:Clca3a2 APN 3 144816768 missense probably damaging 1.00
IGL03162:Clca3a2 APN 3 144806416 missense probably damaging 1.00
R0032:Clca3a2 UTSW 3 144816733 missense probably benign 0.01
R0244:Clca3a2 UTSW 3 144813898 missense possibly damaging 0.90
R1249:Clca3a2 UTSW 3 144803004 missense possibly damaging 0.80
R1370:Clca3a2 UTSW 3 144813863 splice site probably benign
R1586:Clca3a2 UTSW 3 144810716 missense possibly damaging 0.94
R1776:Clca3a2 UTSW 3 144813920 missense probably damaging 1.00
R1797:Clca3a2 UTSW 3 144797637 missense probably benign 0.01
R1869:Clca3a2 UTSW 3 144806403 missense probably benign 0.44
R1871:Clca3a2 UTSW 3 144797637 missense probably benign 0.01
R1919:Clca3a2 UTSW 3 144810696 missense probably benign
R1923:Clca3a2 UTSW 3 144805730 missense probably damaging 1.00
R2200:Clca3a2 UTSW 3 144813924 missense probably benign 0.10
R2324:Clca3a2 UTSW 3 144806280 critical splice donor site probably null
R2937:Clca3a2 UTSW 3 144813918 missense probably benign 0.06
R3429:Clca3a2 UTSW 3 144806327 missense probably benign 0.07
R3434:Clca3a2 UTSW 3 144808761 unclassified probably benign
R3551:Clca3a2 UTSW 3 144803081 missense probably damaging 1.00
R3952:Clca3a2 UTSW 3 144803061 missense probably damaging 1.00
R4120:Clca3a2 UTSW 3 144810852 missense probably benign 0.25
R4383:Clca3a2 UTSW 3 144806320 missense probably benign 0.02
R4518:Clca3a2 UTSW 3 144808705 missense probably damaging 1.00
R4598:Clca3a2 UTSW 3 144805683 missense probably damaging 1.00
R4801:Clca3a2 UTSW 3 144807351 missense possibly damaging 0.95
R4802:Clca3a2 UTSW 3 144807351 missense possibly damaging 0.95
R4816:Clca3a2 UTSW 3 144810852 missense probably benign 0.25
R4934:Clca3a2 UTSW 3 144817931 missense probably damaging 1.00
R4942:Clca3a2 UTSW 3 144806502 missense probably damaging 1.00
R5123:Clca3a2 UTSW 3 144806343 missense probably damaging 1.00
R5156:Clca3a2 UTSW 3 144805838 missense probably benign 0.26
R5275:Clca3a2 UTSW 3 144813579 missense probably damaging 1.00
R5372:Clca3a2 UTSW 3 144797525 missense probably benign 0.00
R5656:Clca3a2 UTSW 3 144797632 missense probably benign 0.26
R6059:Clca3a2 UTSW 3 144810770 missense probably damaging 1.00
R6155:Clca3a2 UTSW 3 144819357 missense probably damaging 0.99
R6254:Clca3a2 UTSW 3 144802134 missense probably benign
R6336:Clca3a2 UTSW 3 144806478 missense probably benign
R6470:Clca3a2 UTSW 3 144804263 splice site probably null
R6593:Clca3a2 UTSW 3 144808577 critical splice donor site probably null
R6631:Clca3a2 UTSW 3 144813644 missense probably benign
R6826:Clca3a2 UTSW 3 144818054 missense possibly damaging 0.46
R6836:Clca3a2 UTSW 3 144806383 missense probably damaging 0.97
R6896:Clca3a2 UTSW 3 144808701 missense probably damaging 1.00
R7211:Clca3a2 UTSW 3 144814014 missense probably benign 0.00
R7324:Clca3a2 UTSW 3 144808611 missense probably damaging 0.99
R7411:Clca3a2 UTSW 3 144802099 missense probably damaging 1.00
R7486:Clca3a2 UTSW 3 144797601 missense probably damaging 1.00
R7491:Clca3a2 UTSW 3 144813579 missense probably damaging 1.00
R7521:Clca3a2 UTSW 3 144801913 makesense probably null
R7889:Clca3a2 UTSW 3 144810813 nonsense probably null
R7946:Clca3a2 UTSW 3 144807314 critical splice donor site probably null
R7991:Clca3a2 UTSW 3 144813995 missense probably benign 0.00
R8022:Clca3a2 UTSW 3 144805766 missense probably damaging 1.00
R8344:Clca3a2 UTSW 3 144805942 critical splice acceptor site probably null
R8367:Clca3a2 UTSW 3 144817747 splice site probably null
R8371:Clca3a2 UTSW 3 144807353 nonsense probably null
R8814:Clca3a2 UTSW 3 144797764 missense probably benign 0.18
R9031:Clca3a2 UTSW 3 144805714 missense probably damaging 1.00
R9201:Clca3a2 UTSW 3 144813923 missense probably benign 0.00
R9261:Clca3a2 UTSW 3 144819397 missense probably benign
R9469:Clca3a2 UTSW 3 144802177 missense probably damaging 1.00
R9569:Clca3a2 UTSW 3 144807314 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ATGCTGGGCCCATTGACATG -3'
(R):5'- GACCTAGTGTTTAAGCTATGCTGTC -3'

Sequencing Primer
(F):5'- CTGGGCCCATTGACATGAATATTG -3'
(R):5'- AGTGTTTAAGCTATGCTGTCTACTC -3'
Posted On 2022-07-18