Incidental Mutation 'R2162:Clca4b'
ID 235192
Institutional Source Beutler Lab
Gene Symbol Clca4b
Ensembl Gene ENSMUSG00000074195
Gene Name chloride channel accessory 4B
Synonyms AI747448
MMRRC Submission 040165-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R2162 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 144616682-144638290 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 144634348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 82 (I82V)
Ref Sequence ENSEMBL: ENSMUSP00000096149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098549]
AlphaFold Q3UW98
Predicted Effect probably benign
Transcript: ENSMUST00000098549
AA Change: I82V

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096149
Gene: ENSMUSG00000074195
AA Change: I82V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
VWA 306 480 1.03e-15 SMART
Blast:VWA 513 552 6e-16 BLAST
Blast:FN3 757 838 5e-35 BLAST
low complexity region 882 906 N/A INTRINSIC
Meta Mutation Damage Score 0.2042 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (55/55)
MGI Phenotype PHENOTYPE: No notable phenotype was detected in a high throughput screen of homozyogus mutant null mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A C 15: 94,229,339 (GRCm39) C927G probably damaging Het
Afdn T A 17: 14,116,436 (GRCm39) D190E probably benign Het
Ankrd28 T C 14: 31,430,719 (GRCm39) D850G probably damaging Het
Arhgap45 T C 10: 79,852,813 (GRCm39) M1T probably null Het
Atp6v0a4 T G 6: 38,065,581 (GRCm39) K128N possibly damaging Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacna1i T C 15: 80,240,388 (GRCm39) F370S probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Dnaaf5 T C 5: 139,167,320 (GRCm39) V447A possibly damaging Het
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Eng C T 2: 32,569,059 (GRCm39) R528C probably damaging Het
Gcn1 A T 5: 115,730,191 (GRCm39) Q835L probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Hlx T A 1: 184,462,889 (GRCm39) probably null Het
Htt T A 5: 34,979,062 (GRCm39) V815D probably benign Het
Il36rn G T 2: 24,169,692 (GRCm39) L17F probably damaging Het
Itga1 C T 13: 115,167,446 (GRCm39) V157I probably benign Het
Krtap19-3 T G 16: 88,674,607 (GRCm39) *88C probably null Het
Lzic G C 4: 149,573,185 (GRCm39) E112D probably null Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Mep1b C T 18: 21,219,296 (GRCm39) T150I possibly damaging Het
Mroh7 G C 4: 106,557,378 (GRCm39) S777R probably damaging Het
Nrxn1 G A 17: 90,469,859 (GRCm39) R35C probably damaging Het
Or12e10 T A 2: 87,640,704 (GRCm39) I180K probably damaging Het
Or51v8 T G 7: 103,320,079 (GRCm39) Q53P possibly damaging Het
Or5p69 C A 7: 107,966,769 (GRCm39) P24Q probably benign Het
Pacs2 A G 12: 113,014,567 (GRCm39) T243A probably benign Het
Pan2 A G 10: 128,140,091 (GRCm39) E4G possibly damaging Het
Pdp1 A G 4: 11,961,123 (GRCm39) V396A probably damaging Het
Pdzd7 A G 19: 45,024,494 (GRCm39) probably null Het
Peg10 T A 6: 4,755,914 (GRCm39) probably benign Het
Pgc C A 17: 48,040,236 (GRCm39) F93L probably null Het
Piezo2 A G 18: 63,214,733 (GRCm39) probably null Het
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Ppp1r9b T C 11: 94,888,877 (GRCm39) L97P probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
S100a10 T C 3: 93,471,680 (GRCm39) V88A probably damaging Het
Scn9a T A 2: 66,364,573 (GRCm39) Y789F probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Spata31g1 A G 4: 42,972,238 (GRCm39) T524A possibly damaging Het
Sptan1 T C 2: 29,908,588 (GRCm39) probably benign Het
Srrd G T 5: 112,490,810 (GRCm39) probably benign Het
Tdrd3 A G 14: 87,718,221 (GRCm39) T201A probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Ttll4 A G 1: 74,725,550 (GRCm39) K653E probably damaging Het
Usp43 A G 11: 67,770,795 (GRCm39) L613P probably damaging Het
Vmn1r167 T C 7: 23,204,224 (GRCm39) D264G possibly damaging Het
Whamm A G 7: 81,221,089 (GRCm39) D7G probably damaging Het
Zcchc17 T C 4: 130,232,317 (GRCm39) D62G probably benign Het
Zfp280d T A 9: 72,206,104 (GRCm39) I62K probably damaging Het
Zfp445 T G 9: 122,681,541 (GRCm39) E800A probably damaging Het
Zfp516 A G 18: 83,005,063 (GRCm39) R656G possibly damaging Het
Other mutations in Clca4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Clca4b APN 3 144,638,152 (GRCm39) missense probably benign 0.00
IGL00391:Clca4b APN 3 144,621,322 (GRCm39) missense possibly damaging 0.81
IGL00576:Clca4b APN 3 144,631,108 (GRCm39) missense probably damaging 1.00
IGL01484:Clca4b APN 3 144,633,996 (GRCm39) missense probably benign 0.02
IGL01539:Clca4b APN 3 144,631,918 (GRCm39) missense probably benign
IGL01726:Clca4b APN 3 144,634,103 (GRCm39) missense probably damaging 1.00
IGL01903:Clca4b APN 3 144,634,020 (GRCm39) missense probably damaging 0.98
IGL01967:Clca4b APN 3 144,633,951 (GRCm39) splice site probably benign
IGL02002:Clca4b APN 3 144,638,194 (GRCm39) missense probably benign 0.00
IGL02323:Clca4b APN 3 144,619,082 (GRCm39) missense probably benign
IGL02379:Clca4b APN 3 144,627,619 (GRCm39) missense probably benign 0.00
IGL02638:Clca4b APN 3 144,631,939 (GRCm39) missense probably damaging 1.00
IGL02859:Clca4b APN 3 144,617,800 (GRCm39) missense probably benign
R0110:Clca4b UTSW 3 144,619,112 (GRCm39) missense probably damaging 1.00
R0266:Clca4b UTSW 3 144,628,547 (GRCm39) missense probably damaging 1.00
R0311:Clca4b UTSW 3 144,638,257 (GRCm39) missense probably benign 0.04
R0348:Clca4b UTSW 3 144,627,741 (GRCm39) missense probably damaging 0.96
R0450:Clca4b UTSW 3 144,619,112 (GRCm39) missense probably damaging 1.00
R0510:Clca4b UTSW 3 144,619,112 (GRCm39) missense probably damaging 1.00
R0538:Clca4b UTSW 3 144,627,717 (GRCm39) missense probably benign 0.15
R0551:Clca4b UTSW 3 144,634,387 (GRCm39) missense probably damaging 1.00
R0552:Clca4b UTSW 3 144,622,536 (GRCm39) missense probably benign
R0570:Clca4b UTSW 3 144,631,110 (GRCm39) missense probably benign 0.01
R0591:Clca4b UTSW 3 144,621,353 (GRCm39) nonsense probably null
R0627:Clca4b UTSW 3 144,634,020 (GRCm39) missense probably benign 0.20
R0729:Clca4b UTSW 3 144,634,111 (GRCm39) splice site probably benign
R0844:Clca4b UTSW 3 144,622,532 (GRCm39) missense probably damaging 0.96
R0964:Clca4b UTSW 3 144,621,337 (GRCm39) missense probably benign
R1388:Clca4b UTSW 3 144,622,415 (GRCm39) missense probably benign
R1479:Clca4b UTSW 3 144,621,229 (GRCm39) missense probably damaging 0.99
R1603:Clca4b UTSW 3 144,627,780 (GRCm39) missense probably benign 0.20
R2045:Clca4b UTSW 3 144,630,924 (GRCm39) missense probably damaging 1.00
R2185:Clca4b UTSW 3 144,634,317 (GRCm39) missense probably damaging 1.00
R2241:Clca4b UTSW 3 144,616,987 (GRCm39) missense probably benign 0.00
R2300:Clca4b UTSW 3 144,622,432 (GRCm39) missense probably benign 0.02
R2321:Clca4b UTSW 3 144,638,134 (GRCm39) missense probably benign 0.00
R2359:Clca4b UTSW 3 144,631,003 (GRCm39) missense probably damaging 0.96
R3105:Clca4b UTSW 3 144,622,432 (GRCm39) missense probably benign 0.02
R3151:Clca4b UTSW 3 144,621,272 (GRCm39) missense probably benign 0.05
R3158:Clca4b UTSW 3 144,617,878 (GRCm39) missense probably benign 0.04
R3177:Clca4b UTSW 3 144,617,120 (GRCm39) missense probably benign 0.15
R3277:Clca4b UTSW 3 144,617,120 (GRCm39) missense probably benign 0.15
R3981:Clca4b UTSW 3 144,631,797 (GRCm39) missense probably benign 0.27
R4601:Clca4b UTSW 3 144,632,945 (GRCm39) missense possibly damaging 0.81
R4646:Clca4b UTSW 3 144,634,286 (GRCm39) missense probably benign 0.00
R4647:Clca4b UTSW 3 144,634,286 (GRCm39) missense probably benign 0.00
R4696:Clca4b UTSW 3 144,617,146 (GRCm39) missense probably benign 0.00
R4893:Clca4b UTSW 3 144,630,934 (GRCm39) missense possibly damaging 0.67
R4998:Clca4b UTSW 3 144,621,269 (GRCm39) missense probably benign 0.00
R5053:Clca4b UTSW 3 144,616,882 (GRCm39) missense probably benign 0.01
R5060:Clca4b UTSW 3 144,617,267 (GRCm39) missense probably damaging 1.00
R5319:Clca4b UTSW 3 144,630,940 (GRCm39) missense possibly damaging 0.85
R5409:Clca4b UTSW 3 144,622,452 (GRCm39) nonsense probably null
R5534:Clca4b UTSW 3 144,621,227 (GRCm39) missense probably damaging 1.00
R5578:Clca4b UTSW 3 144,638,196 (GRCm39) missense probably benign 0.04
R5667:Clca4b UTSW 3 144,627,624 (GRCm39) missense probably benign
R5671:Clca4b UTSW 3 144,627,624 (GRCm39) missense probably benign
R5715:Clca4b UTSW 3 144,619,018 (GRCm39) missense probably benign 0.01
R5875:Clca4b UTSW 3 144,628,650 (GRCm39) missense probably benign 0.38
R5876:Clca4b UTSW 3 144,617,821 (GRCm39) missense possibly damaging 0.91
R6122:Clca4b UTSW 3 144,631,927 (GRCm39) missense possibly damaging 0.67
R6294:Clca4b UTSW 3 144,630,946 (GRCm39) missense probably null
R6408:Clca4b UTSW 3 144,625,036 (GRCm39) missense probably benign 0.00
R6418:Clca4b UTSW 3 144,633,996 (GRCm39) missense probably benign 0.02
R6458:Clca4b UTSW 3 144,617,088 (GRCm39) missense possibly damaging 0.77
R6536:Clca4b UTSW 3 144,622,490 (GRCm39) missense possibly damaging 0.66
R6567:Clca4b UTSW 3 144,638,100 (GRCm39) missense possibly damaging 0.96
R6781:Clca4b UTSW 3 144,628,562 (GRCm39) missense probably benign
R6799:Clca4b UTSW 3 144,621,388 (GRCm39) splice site probably null
R7046:Clca4b UTSW 3 144,621,367 (GRCm39) missense probably damaging 1.00
R7365:Clca4b UTSW 3 144,628,529 (GRCm39) missense not run
R7431:Clca4b UTSW 3 144,616,894 (GRCm39) missense probably benign 0.28
R7462:Clca4b UTSW 3 144,628,621 (GRCm39) missense probably benign 0.00
R7611:Clca4b UTSW 3 144,627,757 (GRCm39) missense probably benign 0.03
R7806:Clca4b UTSW 3 144,638,157 (GRCm39) missense probably benign 0.01
R7918:Clca4b UTSW 3 144,619,033 (GRCm39) missense probably damaging 0.99
R7962:Clca4b UTSW 3 144,622,421 (GRCm39) missense possibly damaging 0.63
R7990:Clca4b UTSW 3 144,634,103 (GRCm39) missense probably damaging 1.00
R8198:Clca4b UTSW 3 144,638,167 (GRCm39) missense probably damaging 1.00
R8327:Clca4b UTSW 3 144,627,762 (GRCm39) missense possibly damaging 0.75
R8370:Clca4b UTSW 3 144,631,824 (GRCm39) missense probably damaging 1.00
R8434:Clca4b UTSW 3 144,631,917 (GRCm39) missense probably benign 0.00
R8493:Clca4b UTSW 3 144,617,911 (GRCm39) missense probably benign
R9027:Clca4b UTSW 3 144,617,827 (GRCm39) nonsense probably null
R9211:Clca4b UTSW 3 144,638,214 (GRCm39) missense possibly damaging 0.95
R9371:Clca4b UTSW 3 144,631,845 (GRCm39) missense possibly damaging 0.92
R9400:Clca4b UTSW 3 144,616,953 (GRCm39) missense probably benign 0.00
R9446:Clca4b UTSW 3 144,638,134 (GRCm39) missense probably benign 0.01
R9474:Clca4b UTSW 3 144,616,927 (GRCm39) missense probably benign 0.04
R9479:Clca4b UTSW 3 144,617,100 (GRCm39) missense probably benign 0.44
R9493:Clca4b UTSW 3 144,632,964 (GRCm39) missense probably damaging 1.00
R9730:Clca4b UTSW 3 144,632,979 (GRCm39) missense probably damaging 1.00
R9733:Clca4b UTSW 3 144,621,272 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TGCCACTTTAATGTCAGCCTGAG -3'
(R):5'- AGCTTAACAGGGTTCACCAG -3'

Sequencing Primer
(F):5'- TGTTAACACTTGAAGAACAGAAACG -3'
(R):5'- GGTTCACCAGAGAAGTGCACC -3'
Posted On 2014-10-01