Incidental Mutation 'R6436:Arc'
ID 518787
Institutional Source Beutler Lab
Gene Symbol Arc
Ensembl Gene ENSMUSG00000022602
Gene Name activity regulated cytoskeletal-associated protein
Synonyms arg 3.1, Arc3.1
MMRRC Submission 044574-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6436 (G1)
Quality Score 133.008
Status Validated
Chromosome 15
Chromosomal Location 74540932-74544419 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 74544098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 42 (V42L)
Ref Sequence ENSEMBL: ENSMUSP00000105636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023268] [ENSMUST00000110009]
AlphaFold Q9WV31
Predicted Effect possibly damaging
Transcript: ENSMUST00000023268
AA Change: V42L

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000110009
AA Change: V42L

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.1%
  • 20x: 93.5%
Validation Efficiency 100% (33/33)
MGI Phenotype PHENOTYPE: Homozygous deletion of this gene results in embryonic lethality around E6.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clip1 C T 5: 123,779,848 (GRCm39) E433K probably damaging Het
Cmya5 T C 13: 93,225,723 (GRCm39) T3122A probably damaging Het
Ctf2 G T 7: 127,318,603 (GRCm39) A92E probably damaging Het
Ctsw G T 19: 5,516,322 (GRCm39) R184S possibly damaging Het
D130043K22Rik A G 13: 25,061,918 (GRCm39) E629G probably damaging Het
Dmbt1 T C 7: 130,718,370 (GRCm39) V1523A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fanci T C 7: 79,090,446 (GRCm39) I982T probably benign Het
Fnbp1 T C 2: 30,986,139 (GRCm39) D3G probably damaging Het
Gm10770 G A 2: 150,020,830 (GRCm39) T229I probably benign Het
Gm35315 G A 5: 110,226,578 (GRCm39) T287I probably benign Het
Itgb3 T A 11: 104,524,318 (GRCm39) D151E probably damaging Het
Lcn8 A T 2: 25,544,990 (GRCm39) probably null Het
Ninl A G 2: 150,808,098 (GRCm39) L310P probably damaging Het
Nop2 A G 6: 125,114,274 (GRCm39) D215G probably benign Het
Or4d10c T C 19: 12,065,299 (GRCm39) T286A probably benign Het
Or6c3 A G 10: 129,308,773 (GRCm39) T71A probably damaging Het
Parg T C 14: 31,993,634 (GRCm39) W289R probably damaging Het
Pdcd4 A G 19: 53,915,362 (GRCm39) probably null Het
Plk2 G T 13: 110,532,570 (GRCm39) E95* probably null Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Ptprc T C 1: 138,011,377 (GRCm39) D560G possibly damaging Het
Rasal3 T C 17: 32,616,478 (GRCm39) Y290C probably damaging Het
Rcsd1 T A 1: 165,485,184 (GRCm39) S90C probably damaging Het
Rttn T C 18: 89,128,853 (GRCm39) L1935P probably damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tmc3 T C 7: 83,247,695 (GRCm39) Y230H probably damaging Het
Tnfrsf25 A T 4: 152,204,084 (GRCm39) probably null Het
Ubl7 T C 9: 57,827,793 (GRCm39) L160P probably damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp646 T A 7: 127,479,113 (GRCm39) V430E probably benign Het
Other mutations in Arc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Arc APN 15 74,544,204 (GRCm39) missense probably benign
IGL02372:Arc APN 15 74,543,954 (GRCm39) missense probably damaging 1.00
IGL03209:Arc APN 15 74,543,833 (GRCm39) missense probably damaging 1.00
P0040:Arc UTSW 15 74,543,188 (GRCm39) missense probably damaging 1.00
R0732:Arc UTSW 15 74,543,044 (GRCm39) missense probably damaging 1.00
R1377:Arc UTSW 15 74,544,101 (GRCm39) missense possibly damaging 0.51
R2430:Arc UTSW 15 74,543,740 (GRCm39) missense probably benign 0.01
R4647:Arc UTSW 15 74,543,374 (GRCm39) missense probably damaging 1.00
R4855:Arc UTSW 15 74,543,592 (GRCm39) missense probably benign 0.01
R6743:Arc UTSW 15 74,543,636 (GRCm39) missense probably benign
R8678:Arc UTSW 15 74,543,539 (GRCm39) missense probably damaging 1.00
R9041:Arc UTSW 15 74,543,896 (GRCm39) missense probably damaging 1.00
R9070:Arc UTSW 15 74,543,833 (GRCm39) missense probably damaging 1.00
R9184:Arc UTSW 15 74,543,779 (GRCm39) missense probably damaging 1.00
R9428:Arc UTSW 15 74,543,063 (GRCm39) missense probably benign 0.01
RF003:Arc UTSW 15 74,543,980 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCTCTCCAGACGGTAGAAG -3'
(R):5'- TCAGAGGAGTTCTTAGCCTGTTC -3'

Sequencing Primer
(F):5'- GCATCTCACGCTTGACCCAG -3'
(R):5'- AGTTCTTAGCCTGTTCGGAGCC -3'
Posted On 2018-05-24