Incidental Mutation 'R7694:Chrna4'
ID 593531
Institutional Source Beutler Lab
Gene Symbol Chrna4
Ensembl Gene ENSMUSG00000027577
Gene Name cholinergic receptor, nicotinic, alpha polypeptide 4
Synonyms a4 nicotinic receptor, Acra-4, alpha4-nAChR, Acra4, alpha4 nAChR
MMRRC Submission 045757-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7694 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 180664104-180685339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 180660386 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 102 (D102V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067120] [ENSMUST00000108851] [ENSMUST00000108856] [ENSMUST00000149179] [ENSMUST00000228434]
AlphaFold O70174
Predicted Effect probably benign
Transcript: ENSMUST00000067120
SMART Domains Protein: ENSMUSP00000066338
Gene: ENSMUSG00000027577

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Neur_chan_LBD 39 245 1.4e-76 PFAM
Pfam:Neur_chan_memb 252 620 1.9e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108851
SMART Domains Protein: ENSMUSP00000104479
Gene: ENSMUSG00000027577

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Neur_chan_LBD 39 245 8.4e-79 PFAM
Pfam:Neur_chan_memb 252 620 3.3e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108856
SMART Domains Protein: ENSMUSP00000104484
Gene: ENSMUSG00000016356

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FN3 24 103 2.18e1 SMART
VWA 175 354 4.68e-55 SMART
FN3 375 453 6.2e-7 SMART
FN3 464 543 7.34e-9 SMART
FN3 555 633 8.18e-7 SMART
FN3 644 723 8.98e-4 SMART
FN3 738 817 1.43e-11 SMART
TSPN 840 1035 6.45e-31 SMART
Pfam:Collagen 1067 1125 3.8e-9 PFAM
Pfam:Collagen 1122 1174 7.4e-9 PFAM
Pfam:Collagen 1165 1223 3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149179
SMART Domains Protein: ENSMUSP00000115291
Gene: ENSMUSG00000016356

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FN3 24 103 2.18e1 SMART
VWA 175 354 4.68e-55 SMART
FN3 375 453 6.2e-7 SMART
FN3 464 543 7.34e-9 SMART
FN3 555 633 8.18e-7 SMART
FN3 644 723 8.98e-4 SMART
FN3 738 817 1.43e-11 SMART
TSPN 840 1035 6.45e-31 SMART
low complexity region 1069 1106 N/A INTRINSIC
low complexity region 1108 1121 N/A INTRINSIC
low complexity region 1136 1155 N/A INTRINSIC
Blast:TSPN 1156 1202 2e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000155425
SMART Domains Protein: ENSMUSP00000114654
Gene: ENSMUSG00000016356

DomainStartEndE-ValueType
Pfam:Collagen 1 55 4.9e-12 PFAM
Pfam:Collagen 36 94 2.2e-13 PFAM
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000228434
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Nullizygous mice may show reduced chemically-elicited analgesia, susceptibility to seizures, increased anxiety, and altered behavioral responses to nicotine or a new environment. Homozygotes for any of several knock-in alleles exhibit altered nervous system physiology and/or sensitivity to nicotine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T G 17: 14,109,144 (GRCm39) S1571A probably damaging Het
Agbl1 C A 7: 76,348,513 (GRCm39) A870D unknown Het
Alpl C T 4: 137,471,120 (GRCm39) G339R probably damaging Het
Ankrd55 T C 13: 112,504,498 (GRCm39) Y415H probably damaging Het
Cd69 G A 6: 129,247,008 (GRCm39) R111C possibly damaging Het
Cdh26 A T 2: 178,101,896 (GRCm39) T172S probably damaging Het
Cflar T A 1: 58,791,966 (GRCm39) V423E Het
Cgrrf1 A C 14: 47,091,415 (GRCm39) Q313P possibly damaging Het
Chga G A 12: 102,527,606 (GRCm39) A87T probably benign Het
Cpvl A T 6: 53,909,502 (GRCm39) Y211* probably null Het
Cyp26a1 G A 19: 37,689,512 (GRCm39) D403N possibly damaging Het
Dchs2 T C 3: 83,036,789 (GRCm39) L512P probably damaging Het
Dll3 A C 7: 28,001,170 (GRCm39) M1R probably null Het
Dnah12 A G 14: 26,503,337 (GRCm39) T1564A probably damaging Het
Efhb A G 17: 53,707,836 (GRCm39) S776P probably damaging Het
Eml5 T C 12: 98,758,822 (GRCm39) S1831G probably damaging Het
Fat1 G T 8: 45,441,967 (GRCm39) probably null Het
Fhad1 T C 4: 141,632,375 (GRCm39) K1255E probably benign Het
Fitm2 C T 2: 163,311,892 (GRCm39) C107Y probably damaging Het
Gdpd4 T C 7: 97,621,146 (GRCm39) V153A probably benign Het
Ggnbp2 A G 11: 84,751,539 (GRCm39) V87A possibly damaging Het
Glb1l G T 1: 75,178,436 (GRCm39) A334E probably damaging Het
Gnas T G 2: 174,142,005 (GRCm39) L784R probably damaging Het
Gtf2i C T 5: 134,311,659 (GRCm39) E223K probably damaging Het
H2-M10.5 T C 17: 37,084,641 (GRCm39) Y122H probably damaging Het
Hikeshi G A 7: 89,579,554 (GRCm39) Q6* probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Irak2 A C 6: 113,667,859 (GRCm39) D528A probably damaging Het
Lcn2 A G 2: 32,278,042 (GRCm39) C17R unknown Het
Lcp2 G T 11: 34,000,924 (GRCm39) V36L probably benign Het
Lin7c T C 2: 109,726,617 (GRCm39) S89P probably benign Het
Lrrc37a C T 11: 103,395,204 (GRCm39) A74T probably benign Het
Lrrtm3 T A 10: 63,923,818 (GRCm39) M450L probably benign Het
Lsm11 C T 11: 45,824,768 (GRCm39) R253Q probably benign Het
Map9 A T 3: 82,266,290 (GRCm39) probably benign Het
Mmp2 T A 8: 93,558,358 (GRCm39) D142E possibly damaging Het
Nrn1l A T 8: 106,621,430 (GRCm39) T127S probably damaging Het
Or14c46 T C 7: 85,918,983 (GRCm39) T5A probably damaging Het
Pelp1 G A 11: 70,285,585 (GRCm39) T761I probably damaging Het
Pmm2 T A 16: 8,463,254 (GRCm39) V63E probably damaging Het
Ptprb T A 10: 116,208,853 (GRCm39) L1942H probably damaging Het
Ptprk T A 10: 28,465,366 (GRCm39) C1350S possibly damaging Het
Rnf44 A G 13: 54,829,841 (GRCm39) V381A probably damaging Het
Robo3 G A 9: 37,329,816 (GRCm39) P1167S probably benign Het
Ryk A G 9: 102,775,979 (GRCm39) E489G probably damaging Het
Satb2 T A 1: 56,910,683 (GRCm39) I321L probably benign Het
Sh2b1 A T 7: 126,066,929 (GRCm39) V655E probably benign Het
Slc16a12 G A 19: 34,648,035 (GRCm39) T486M probably damaging Het
Slc34a1 G T 13: 55,561,221 (GRCm39) R562L probably benign Het
Slc4a9 A G 18: 36,669,902 (GRCm39) E779G probably damaging Het
Strc C A 2: 121,207,577 (GRCm39) C598F probably damaging Het
Stxbp6 A T 12: 44,948,810 (GRCm39) F100I probably damaging Het
Tap2 A G 17: 34,424,671 (GRCm39) T135A probably benign Het
Tmcc1 G A 6: 116,110,805 (GRCm39) P159S Het
Tmem106b T A 6: 13,078,105 (GRCm39) M100K probably benign Het
Ttn T A 2: 76,578,039 (GRCm39) T24285S probably damaging Het
Vmn1r116 G A 7: 20,606,337 (GRCm39) V53M possibly damaging Het
Zar1 A T 5: 72,738,193 (GRCm39) S70T probably benign Het
Zfp235 C T 7: 23,841,525 (GRCm39) T648M probably benign Het
Zfp937 C T 2: 150,081,268 (GRCm39) H433Y probably damaging Het
Other mutations in Chrna4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Chrna4 APN 2 180,671,184 (GRCm39) missense probably benign 0.09
IGL00914:Chrna4 APN 2 180,670,824 (GRCm39) missense probably damaging 1.00
IGL01511:Chrna4 APN 2 180,670,461 (GRCm39) missense probably benign 0.13
IGL02517:Chrna4 APN 2 180,670,926 (GRCm39) missense probably benign 0.01
IGL02715:Chrna4 APN 2 180,671,374 (GRCm39) unclassified probably benign
R1168:Chrna4 UTSW 2 180,675,931 (GRCm39) missense possibly damaging 0.61
R1475:Chrna4 UTSW 2 180,671,172 (GRCm39) missense probably benign 0.44
R1572:Chrna4 UTSW 2 180,671,100 (GRCm39) missense possibly damaging 0.95
R4428:Chrna4 UTSW 2 180,670,413 (GRCm39) missense probably damaging 0.99
R4429:Chrna4 UTSW 2 180,670,413 (GRCm39) missense probably damaging 0.99
R4431:Chrna4 UTSW 2 180,670,413 (GRCm39) missense probably damaging 0.99
R4494:Chrna4 UTSW 2 180,670,281 (GRCm39) missense probably damaging 0.98
R4664:Chrna4 UTSW 2 180,679,286 (GRCm39) missense probably damaging 1.00
R4666:Chrna4 UTSW 2 180,679,286 (GRCm39) missense probably damaging 1.00
R4931:Chrna4 UTSW 2 180,670,665 (GRCm39) missense probably benign 0.00
R5144:Chrna4 UTSW 2 180,666,623 (GRCm39) missense probably damaging 1.00
R5556:Chrna4 UTSW 2 180,675,773 (GRCm39) missense possibly damaging 0.94
R5633:Chrna4 UTSW 2 180,671,253 (GRCm39) missense probably damaging 1.00
R5889:Chrna4 UTSW 2 180,670,451 (GRCm39) missense probably damaging 1.00
R6056:Chrna4 UTSW 2 180,671,235 (GRCm39) missense probably damaging 1.00
R6120:Chrna4 UTSW 2 180,666,599 (GRCm39) missense probably damaging 1.00
R7030:Chrna4 UTSW 2 180,671,334 (GRCm39) missense probably damaging 1.00
R7352:Chrna4 UTSW 2 180,679,267 (GRCm39) missense probably damaging 0.97
R7945:Chrna4 UTSW 2 180,670,454 (GRCm39) missense probably benign 0.04
R8075:Chrna4 UTSW 2 180,680,859 (GRCm39) missense unknown
R8706:Chrna4 UTSW 2 180,679,307 (GRCm39) missense probably damaging 1.00
R9091:Chrna4 UTSW 2 180,670,643 (GRCm39) missense possibly damaging 0.79
R9138:Chrna4 UTSW 2 180,670,775 (GRCm39) missense probably damaging 0.97
R9154:Chrna4 UTSW 2 180,670,602 (GRCm39) missense probably damaging 0.99
R9270:Chrna4 UTSW 2 180,670,643 (GRCm39) missense possibly damaging 0.79
R9598:Chrna4 UTSW 2 180,679,264 (GRCm39) missense probably damaging 1.00
Z1177:Chrna4 UTSW 2 180,670,078 (GRCm39) missense possibly damaging 0.80
Z1177:Chrna4 UTSW 2 180,666,606 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCTTACAATGCGCCACAG -3'
(R):5'- GCTAAGGACATATTTCACAATCCAC -3'

Sequencing Primer
(F):5'- GAGGCAGGGAAGAATATTAATAACAC -3'
(R):5'- ACAATCCACCTATTGACTCTCATGG -3'
Posted On 2019-11-12