Incidental Mutation 'R9765:Actr1b'
ID 733180
Institutional Source Beutler Lab
Gene Symbol Actr1b
Ensembl Gene ENSMUSG00000037351
Gene Name ARP1 actin-related protein 1B, centractin beta
Synonyms 2310066K23Rik, Arp1b
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # R9765 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 36737195-36749051 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36741677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 65 (H65L)
Ref Sequence ENSEMBL: ENSMUSP00000047326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043951] [ENSMUST00000159448] [ENSMUST00000160084]
AlphaFold Q8R5C5
Predicted Effect probably benign
Transcript: ENSMUST00000043951
AA Change: H65L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000047326
Gene: ENSMUSG00000037351
AA Change: H65L

DomainStartEndE-ValueType
ACTIN 9 376 9.61e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159448
AA Change: H21L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124343
Gene: ENSMUSG00000037351
AA Change: H21L

DomainStartEndE-ValueType
ACTIN 2 149 1.29e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160084
AA Change: H21L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125472
Gene: ENSMUSG00000037351
AA Change: H21L

DomainStartEndE-ValueType
Pfam:Actin 2 142 2.3e-51 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,404,829 (GRCm39) V25I probably benign Het
Adgrf5 G A 17: 43,748,491 (GRCm39) G440E probably damaging Het
Ash1l T A 3: 88,930,500 (GRCm39) D1992E probably damaging Het
Cacng4 A G 11: 107,632,809 (GRCm39) F81S probably damaging Het
Cdca8 A G 4: 124,814,122 (GRCm39) I223T probably benign Het
Cdh19 A G 1: 110,823,111 (GRCm39) probably null Het
Ces2f A G 8: 105,676,678 (GRCm39) D124G probably damaging Het
Cks1brt A G 8: 85,898,234 (GRCm39) Y29C probably damaging Het
Cntnap4 T C 8: 113,484,110 (GRCm39) S388P probably benign Het
Cntnap4 T C 8: 113,568,496 (GRCm39) I844T probably damaging Het
Col4a3 G A 1: 82,646,678 (GRCm39) W396* probably null Het
Cul9 A T 17: 46,850,224 (GRCm39) S449T probably benign Het
Cux2 G A 5: 122,007,195 (GRCm39) P822L probably benign Het
Cyp3a13 G C 5: 137,909,883 (GRCm39) P147A probably damaging Het
Dennd2a C T 6: 39,473,907 (GRCm39) probably null Het
Dgkg T C 16: 22,298,157 (GRCm39) M743V possibly damaging Het
Dhx35 C T 2: 158,671,501 (GRCm39) R311W probably benign Het
Dnase1l2 A T 17: 24,660,049 (GRCm39) V273E probably damaging Het
Dock8 T G 19: 25,146,832 (GRCm39) I1437S possibly damaging Het
Dpy19l3 T C 7: 35,408,056 (GRCm39) D450G probably benign Het
Dsg4 G A 18: 20,604,334 (GRCm39) V934I probably benign Het
Eef2 T A 10: 81,015,010 (GRCm39) F236L possibly damaging Het
Eml4 A G 17: 83,747,498 (GRCm39) I247V probably damaging Het
Evi5 A C 5: 107,947,120 (GRCm39) C451G probably benign Het
Fam124a T G 14: 62,824,883 (GRCm39) W126G probably damaging Het
Fbxw21 A G 9: 108,975,625 (GRCm39) I257T possibly damaging Het
Fn3krp A G 11: 121,312,304 (GRCm39) K6E probably benign Het
Gcn1 G A 5: 115,735,131 (GRCm39) W1149* probably null Het
Glud1 C T 14: 34,060,795 (GRCm39) R453* probably null Het
Gtf2f1 G A 17: 57,318,125 (GRCm39) probably benign Het
Gtpbp4 T A 13: 9,024,994 (GRCm39) D532V probably benign Het
Ifnar2 G A 16: 91,184,975 (GRCm39) R122H possibly damaging Het
Ift70b A T 2: 75,768,467 (GRCm39) Y95* probably null Het
Ipo11 A G 13: 107,061,556 (GRCm39) W35R probably damaging Het
Iqgap3 G A 3: 88,017,361 (GRCm39) R1115Q possibly damaging Het
Kifc5b A G 17: 27,142,239 (GRCm39) E239G probably damaging Het
Map3k7 A T 4: 32,019,519 (GRCm39) E553D probably damaging Het
Mdh1 G T 11: 21,512,926 (GRCm39) S146* probably null Het
Muc16 C A 9: 18,548,494 (GRCm39) W5933L probably benign Het
Myo16 C A 8: 10,620,401 (GRCm39) P1651T probably damaging Het
Naip5 C G 13: 100,367,269 (GRCm39) A276P probably damaging Het
Noxo1 G T 17: 24,915,386 (GRCm39) probably benign Het
Or4k49 T A 2: 111,495,230 (GRCm39) Y220N probably benign Het
Pcdhgb6 A T 18: 37,876,054 (GRCm39) N254I possibly damaging Het
Peli3 A T 19: 4,991,850 (GRCm39) C30* probably null Het
Plb1 T A 5: 32,512,731 (GRCm39) M1363K probably damaging Het
Ppp4r4 G T 12: 103,550,346 (GRCm39) E257* probably null Het
Rbm20 T G 19: 53,840,060 (GRCm39) S1016R probably benign Het
Rcn1 A T 2: 105,225,026 (GRCm39) L143Q possibly damaging Het
Retreg1 G A 15: 25,940,985 (GRCm39) G3D unknown Het
Rrm2 A G 12: 24,758,956 (GRCm39) N65D probably benign Het
Samhd1 G T 2: 156,965,219 (GRCm39) H199N probably damaging Het
Slain2 T A 5: 73,114,969 (GRCm39) L400* probably null Het
Slc26a7 A T 4: 14,522,862 (GRCm39) M486K probably benign Het
Slc30a4 A T 2: 122,536,456 (GRCm39) Y133N probably damaging Het
Spef2 A T 15: 9,601,945 (GRCm39) F1439Y unknown Het
Srpra T C 9: 35,122,670 (GRCm39) V29A possibly damaging Het
St3gal1 T C 15: 66,981,499 (GRCm39) T226A possibly damaging Het
Tas2r136 T A 6: 132,754,813 (GRCm39) I105F probably benign Het
Tmem208 A G 8: 106,061,506 (GRCm39) *177W probably null Het
Utrn T A 10: 12,610,921 (GRCm39) N478I probably damaging Het
Zbtb37 T C 1: 160,859,432 (GRCm39) Y291C probably damaging Het
Zc3h3 T G 15: 75,709,459 (GRCm39) H470P probably benign Het
Zfp40 A T 17: 23,395,863 (GRCm39) Y241* probably null Het
Zfp457 T C 13: 67,440,874 (GRCm39) N567S probably benign Het
Zfp458 C T 13: 67,408,217 (GRCm39) V33M probably damaging Het
Zfp953 A T 13: 67,491,478 (GRCm39) I158N possibly damaging Het
Other mutations in Actr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02453:Actr1b APN 1 36,741,588 (GRCm39) missense probably damaging 0.99
IGL02555:Actr1b APN 1 36,740,828 (GRCm39) missense probably damaging 1.00
R1267:Actr1b UTSW 1 36,739,185 (GRCm39) missense probably benign 0.11
R2064:Actr1b UTSW 1 36,741,168 (GRCm39) missense possibly damaging 0.83
R2231:Actr1b UTSW 1 36,739,440 (GRCm39) missense probably damaging 1.00
R4243:Actr1b UTSW 1 36,740,911 (GRCm39) missense possibly damaging 0.61
R4244:Actr1b UTSW 1 36,740,911 (GRCm39) missense possibly damaging 0.61
R4245:Actr1b UTSW 1 36,740,911 (GRCm39) missense possibly damaging 0.61
R5256:Actr1b UTSW 1 36,739,173 (GRCm39) missense probably benign 0.31
R5973:Actr1b UTSW 1 36,741,162 (GRCm39) missense probably damaging 1.00
R6267:Actr1b UTSW 1 36,740,244 (GRCm39) missense possibly damaging 0.63
R7213:Actr1b UTSW 1 36,741,221 (GRCm39) missense probably damaging 1.00
R7473:Actr1b UTSW 1 36,748,900 (GRCm39) missense probably benign 0.01
R8762:Actr1b UTSW 1 36,748,909 (GRCm39) missense probably benign 0.03
R8768:Actr1b UTSW 1 36,740,588 (GRCm39) missense probably benign 0.21
R9051:Actr1b UTSW 1 36,740,534 (GRCm39) missense probably benign 0.00
R9334:Actr1b UTSW 1 36,739,251 (GRCm39) missense probably damaging 1.00
R9372:Actr1b UTSW 1 36,741,561 (GRCm39) missense probably damaging 0.98
Z1176:Actr1b UTSW 1 36,740,289 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAATAGGCAGTCAGAAAGCTG -3'
(R):5'- GTCTTGCCAGCACAGTTGATC -3'

Sequencing Primer
(F):5'- CAGTCAGAAAGCTGGGAGC -3'
(R):5'- GCCAGCACAGTTGATCTGATG -3'
Posted On 2022-11-14