Incidental Mutation 'R4515:Chrnb3'
ID 332855
Institutional Source Beutler Lab
Gene Symbol Chrnb3
Ensembl Gene ENSMUSG00000031492
Gene Name cholinergic receptor, nicotinic, beta polypeptide 3
Synonyms Acrb3, 5730417K16Rik
MMRRC Submission 041589-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R4515 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 27858739-27889758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27875118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 39 (L39P)
Ref Sequence ENSEMBL: ENSMUSP00000147672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060943] [ENSMUST00000079463] [ENSMUST00000211104]
AlphaFold Q8BMN3
Predicted Effect probably damaging
Transcript: ENSMUST00000060943
AA Change: L39P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052297
Gene: ENSMUSG00000031492
AA Change: L39P

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 35 239 2.3e-75 PFAM
Pfam:Neur_chan_memb 246 452 1.9e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079463
AA Change: L39P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078428
Gene: ENSMUSG00000031492
AA Change: L39P

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 35 224 1.3e-57 PFAM
Pfam:Neur_chan_memb 231 374 4.3e-48 PFAM
Pfam:Neur_chan_memb 349 437 9.7e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211104
AA Change: L39P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7751 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 96% (65/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display hyperactivity and reflex abnormalities but were otherwise phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G T 5: 138,646,006 (GRCm39) K630N probably damaging Het
Acss2 C A 2: 155,398,283 (GRCm39) L335I probably benign Het
Alg6 A T 4: 99,641,023 (GRCm39) probably benign Het
Atp8b3 C T 10: 80,359,681 (GRCm39) M984I probably benign Het
Bsn G T 9: 107,981,277 (GRCm39) probably null Het
Ccdc88a T C 11: 29,432,651 (GRCm39) I1219T probably benign Het
Cdhr4 G A 9: 107,870,150 (GRCm39) E52K probably benign Het
Ces1a T A 8: 93,747,532 (GRCm39) N500Y probably damaging Het
Chd3 G T 11: 69,240,703 (GRCm39) R1579S probably benign Het
Ckm A G 7: 19,154,209 (GRCm39) K319E probably damaging Het
Cnot6 C T 11: 49,593,363 (GRCm39) probably null Het
Copg1 A G 6: 87,884,528 (GRCm39) probably benign Het
Dbn1 A T 13: 55,624,042 (GRCm39) I350N possibly damaging Het
Dnah2 A G 11: 69,356,457 (GRCm39) S2135P possibly damaging Het
Dsg2 C A 18: 20,734,444 (GRCm39) D807E probably benign Het
Foxi1 A G 11: 34,157,972 (GRCm39) F18L probably damaging Het
Galnt3 C A 2: 65,923,954 (GRCm39) R438L probably damaging Het
Glod4 T A 11: 76,134,397 (GRCm39) D25V probably damaging Het
Golga4 T A 9: 118,388,076 (GRCm39) S1733T probably benign Het
H2-M10.3 C T 17: 36,678,722 (GRCm39) probably null Het
Hemgn T C 4: 46,396,477 (GRCm39) E253G probably damaging Het
Itsn1 G A 16: 91,696,537 (GRCm39) V47M probably damaging Het
Kif5b A G 18: 6,208,257 (GRCm39) V947A probably benign Het
Kif9 A G 9: 110,318,935 (GRCm39) H133R probably benign Het
Lce1l T C 3: 92,757,781 (GRCm39) T26A unknown Het
Macf1 T C 4: 123,387,781 (GRCm39) E1172G probably damaging Het
Nkx3-2 C T 5: 41,921,281 (GRCm39) V3M probably damaging Het
Nr2e1 G A 10: 42,454,187 (GRCm39) T49I probably benign Het
Oc90 A G 15: 65,764,242 (GRCm39) L138P probably damaging Het
Or7g12 T G 9: 18,899,278 (GRCm39) probably null Het
Or8g34 C T 9: 39,373,527 (GRCm39) R264* probably null Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Paqr3 T A 5: 97,251,220 (GRCm39) N168I possibly damaging Het
Pcdhac1 T A 18: 37,224,432 (GRCm39) I415N probably damaging Het
Pdik1l T C 4: 134,006,207 (GRCm39) N75S probably damaging Het
Pik3r4 A G 9: 105,549,924 (GRCm39) H1005R probably damaging Het
Plekhn1 T C 4: 156,309,988 (GRCm39) S109G probably damaging Het
Prkch A G 12: 73,749,612 (GRCm39) T402A possibly damaging Het
Ptger4 C A 15: 5,271,860 (GRCm39) R253L probably damaging Het
Rabac1 A T 7: 24,669,585 (GRCm39) Y173* probably null Het
Rapsn G A 2: 90,873,557 (GRCm39) V288M possibly damaging Het
Rnf26rt C T 6: 76,473,792 (GRCm39) V275I probably benign Het
Sec31a A G 5: 100,513,817 (GRCm39) S993P probably damaging Het
Septin4 A G 11: 87,458,883 (GRCm39) H419R probably benign Het
Serpina9 T A 12: 103,967,553 (GRCm39) M281L probably benign Het
Serpine1 G A 5: 137,098,322 (GRCm39) A117V probably damaging Het
Sh3tc2 A G 18: 62,120,764 (GRCm39) probably null Het
Sipa1l2 T C 8: 126,218,965 (GRCm39) D124G probably benign Het
Slc6a12 T A 6: 121,330,489 (GRCm39) probably null Het
Stk11 A G 10: 79,952,435 (GRCm39) probably benign Het
Tcaf3 A G 6: 42,566,930 (GRCm39) Y720H probably damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Tmprss11a C T 5: 86,568,055 (GRCm39) R224K probably damaging Het
Tmprss15 C T 16: 78,754,244 (GRCm39) S988N probably benign Het
Txn2 A T 15: 77,799,643 (GRCm39) probably null Het
Ugt1a10 T A 1: 87,983,919 (GRCm39) V239E probably damaging Het
Vmn2r102 A G 17: 19,901,475 (GRCm39) Y534C probably damaging Het
Vmn2r78 A T 7: 86,603,466 (GRCm39) D548V probably damaging Het
Other mutations in Chrnb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:Chrnb3 APN 8 27,875,129 (GRCm39) missense probably benign 0.13
IGL01655:Chrnb3 APN 8 27,884,202 (GRCm39) missense probably damaging 1.00
IGL02124:Chrnb3 APN 8 27,886,832 (GRCm39) unclassified probably benign
IGL02403:Chrnb3 APN 8 27,883,836 (GRCm39) missense probably damaging 1.00
IGL02474:Chrnb3 APN 8 27,883,397 (GRCm39) missense probably damaging 1.00
IGL02903:Chrnb3 APN 8 27,876,834 (GRCm39) missense probably damaging 0.96
R0178:Chrnb3 UTSW 8 27,883,392 (GRCm39) missense probably damaging 1.00
R0736:Chrnb3 UTSW 8 27,875,078 (GRCm39) missense probably benign 0.00
R1695:Chrnb3 UTSW 8 27,883,728 (GRCm39) missense probably damaging 1.00
R2051:Chrnb3 UTSW 8 27,876,839 (GRCm39) missense probably damaging 1.00
R2091:Chrnb3 UTSW 8 27,884,262 (GRCm39) missense probably damaging 1.00
R2313:Chrnb3 UTSW 8 27,883,809 (GRCm39) missense probably damaging 1.00
R3020:Chrnb3 UTSW 8 27,886,812 (GRCm39) missense probably benign
R3981:Chrnb3 UTSW 8 27,884,034 (GRCm39) missense probably damaging 1.00
R4236:Chrnb3 UTSW 8 27,884,021 (GRCm39) missense probably damaging 1.00
R4276:Chrnb3 UTSW 8 27,883,779 (GRCm39) missense probably damaging 1.00
R4422:Chrnb3 UTSW 8 27,886,761 (GRCm39) missense possibly damaging 0.84
R4688:Chrnb3 UTSW 8 27,884,147 (GRCm39) missense probably damaging 1.00
R4931:Chrnb3 UTSW 8 27,884,258 (GRCm39) missense probably damaging 0.99
R5164:Chrnb3 UTSW 8 27,884,160 (GRCm39) missense probably damaging 1.00
R6333:Chrnb3 UTSW 8 27,883,355 (GRCm39) missense probably damaging 0.96
R6454:Chrnb3 UTSW 8 27,883,403 (GRCm39) missense probably damaging 1.00
R7070:Chrnb3 UTSW 8 27,883,989 (GRCm39) missense probably damaging 1.00
R8060:Chrnb3 UTSW 8 27,884,588 (GRCm39) missense unknown
R8156:Chrnb3 UTSW 8 27,883,682 (GRCm39) missense probably benign 0.13
R8421:Chrnb3 UTSW 8 27,886,718 (GRCm39) missense probably damaging 1.00
R8884:Chrnb3 UTSW 8 27,883,946 (GRCm39) missense possibly damaging 0.90
R9244:Chrnb3 UTSW 8 27,884,594 (GRCm39) missense unknown
R9459:Chrnb3 UTSW 8 27,883,884 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGTAGAGTTCAGAGCACCTTGC -3'
(R):5'- GATTTCCGTTCAACACAGCC -3'

Sequencing Primer
(F):5'- ATGAAGGCTTCAGGTGTG -3'
(R):5'- AATGTCAGTGTCCGTGACAG -3'
Posted On 2015-08-18