Incidental Mutation 'IGL02947:Chrng'
ID 364813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrng
Ensembl Gene ENSMUSG00000026253
Gene Name cholinergic receptor, nicotinic, gamma polypeptide
Synonyms Acrg, Achr-3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02947
Quality Score
Status
Chromosome 1
Chromosomal Location 87133533-87139365 bp(+) (GRCm39)
Type of Mutation splice site (1589 bp from exon)
DNA Base Change (assembly) A to G at 87137606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027470] [ENSMUST00000050876] [ENSMUST00000076362] [ENSMUST00000113230] [ENSMUST00000113231] [ENSMUST00000113232] [ENSMUST00000185763] [ENSMUST00000113233] [ENSMUST00000123735] [ENSMUST00000186038] [ENSMUST00000113235] [ENSMUST00000188796]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000027470
SMART Domains Protein: ENSMUSP00000027470
Gene: ENSMUSG00000026253

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 26 241 7.9e-72 PFAM
Pfam:Neur_chan_memb 248 494 9.6e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050876
SMART Domains Protein: ENSMUSP00000053403
Gene: ENSMUSG00000026254

DomainStartEndE-ValueType
Pfam:IF4E 55 217 2.4e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076362
SMART Domains Protein: ENSMUSP00000075699
Gene: ENSMUSG00000026254

DomainStartEndE-ValueType
Pfam:IF4E 55 217 4.1e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113230
SMART Domains Protein: ENSMUSP00000108856
Gene: ENSMUSG00000026254

DomainStartEndE-ValueType
Pfam:IF4E 50 212 1.7e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113231
SMART Domains Protein: ENSMUSP00000108857
Gene: ENSMUSG00000026254

DomainStartEndE-ValueType
Pfam:IF4E 50 212 4.4e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113232
SMART Domains Protein: ENSMUSP00000108858
Gene: ENSMUSG00000026254

DomainStartEndE-ValueType
Pfam:IF4E 55 217 4e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189392
Predicted Effect probably null
Transcript: ENSMUST00000185763
SMART Domains Protein: ENSMUSP00000139600
Gene: ENSMUSG00000026253

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 20 72 1.4e-6 PFAM
Pfam:Neur_chan_LBD 117 255 1e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113233
SMART Domains Protein: ENSMUSP00000108859
Gene: ENSMUSG00000026254

DomainStartEndE-ValueType
Pfam:IF4E 55 217 8.6e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123735
SMART Domains Protein: ENSMUSP00000137771
Gene: ENSMUSG00000026254

DomainStartEndE-ValueType
Pfam:IF4E 50 128 1.8e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000186038
SMART Domains Protein: ENSMUSP00000141001
Gene: ENSMUSG00000026253

DomainStartEndE-ValueType
signal peptide 1 41 N/A INTRINSIC
Pfam:Neur_chan_LBD 48 220 1e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113235
SMART Domains Protein: ENSMUSP00000108861
Gene: ENSMUSG00000026254

DomainStartEndE-ValueType
Pfam:IF4E 55 217 1.8e-64 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000188796
SMART Domains Protein: ENSMUSP00000140796
Gene: ENSMUSG00000026253

DomainStartEndE-ValueType
Pfam:Neur_chan_LBD 26 142 1.3e-34 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice display perinatal and postnatal lethality, paradoxical breathing, abnormal skeletal muscle morphology, abnormal neuromuscular junction morphology and physiology, and are unable to suckle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,049,957 (GRCm39) V13A probably benign Het
Atp8b5 T A 4: 43,305,774 (GRCm39) I106K possibly damaging Het
Cdh15 T C 8: 123,592,111 (GRCm39) S633P probably benign Het
Celsr3 A G 9: 108,723,134 (GRCm39) T228A probably benign Het
Cfap90 T A 13: 68,759,312 (GRCm39) F95L probably benign Het
Coprs T C 8: 13,935,782 (GRCm39) E79G probably damaging Het
Cpb2 A C 14: 75,520,758 (GRCm39) Y391S probably damaging Het
Cyp2j8 A T 4: 96,358,815 (GRCm39) I368N probably damaging Het
Ddah1 T C 3: 145,464,842 (GRCm39) F76L probably benign Het
Eif2ak4 A G 2: 118,261,514 (GRCm39) T573A probably benign Het
Exoc6b T A 6: 84,835,411 (GRCm39) M375L probably benign Het
Fasn T C 11: 120,706,502 (GRCm39) E994G probably damaging Het
Fem1a T A 17: 56,565,640 (GRCm39) C578S probably benign Het
Garnl3 A G 2: 32,936,606 (GRCm39) S188P probably damaging Het
Gpn3 T C 5: 122,516,551 (GRCm39) V60A possibly damaging Het
Hnrnpr A G 4: 136,043,690 (GRCm39) D59G probably damaging Het
Hydin A T 8: 111,145,094 (GRCm39) E815V probably damaging Het
Itga9 C T 9: 118,487,601 (GRCm39) T228M probably damaging Het
Kpna7 T C 5: 144,930,884 (GRCm39) I320M probably damaging Het
Lnpep T C 17: 17,791,234 (GRCm39) T437A probably damaging Het
Ltf C T 9: 110,868,015 (GRCm39) T48I probably benign Het
Masp1 T G 16: 23,313,476 (GRCm39) D153A probably damaging Het
Mcpt9 T A 14: 56,264,373 (GRCm39) R241* probably null Het
Msantd4 T A 9: 4,384,787 (GRCm39) S171T probably damaging Het
Nos1 G A 5: 118,081,382 (GRCm39) V1229M probably damaging Het
Npc1l1 A G 11: 6,179,246 (GRCm39) S55P probably benign Het
Oc90 T C 15: 65,759,983 (GRCm39) K212R probably benign Het
Or2a12 A G 6: 42,904,830 (GRCm39) I222V probably benign Het
Or5t15 C T 2: 86,681,130 (GRCm39) R304K probably benign Het
Or6c202 C A 10: 128,996,439 (GRCm39) C138F probably damaging Het
Prr12 T A 7: 44,697,980 (GRCm39) Q645L unknown Het
Psmd9 A G 5: 123,384,278 (GRCm39) I145V probably benign Het
Rbks T C 5: 31,817,407 (GRCm39) I121V probably benign Het
Rnase2b A T 14: 51,400,264 (GRCm39) Y115F probably damaging Het
Sarnp A G 10: 128,675,723 (GRCm39) E78G probably benign Het
Sltm A G 9: 70,498,946 (GRCm39) S1007G probably benign Het
Spata31d1c T A 13: 65,182,759 (GRCm39) Y100* probably null Het
Srrm2 T C 17: 24,029,720 (GRCm39) S222P probably benign Het
Sult3a1 G A 10: 33,740,046 (GRCm39) R35Q possibly damaging Het
Tfap4 T C 16: 4,369,224 (GRCm39) D132G probably damaging Het
Tmem53 C T 4: 117,125,285 (GRCm39) Q111* probably null Het
Togaram1 T A 12: 65,068,274 (GRCm39) V1709D probably damaging Het
Trpm3 A T 19: 22,878,483 (GRCm39) D628V probably damaging Het
Ttn T A 2: 76,544,838 (GRCm39) K31009* probably null Het
Vldlr A G 19: 27,217,120 (GRCm39) I58V probably benign Het
Vmn1r4 T C 6: 56,934,231 (GRCm39) F245S probably benign Het
Vrtn T A 12: 84,695,258 (GRCm39) S3T probably damaging Het
Vwa7 A G 17: 35,242,476 (GRCm39) probably null Het
Wrnip1 T A 13: 33,006,053 (GRCm39) Y632N probably damaging Het
Other mutations in Chrng
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Chrng APN 1 87,134,469 (GRCm39) missense probably damaging 0.99
IGL03014:Chrng UTSW 1 87,138,759 (GRCm39) critical splice donor site probably null
R1051:Chrng UTSW 1 87,136,785 (GRCm39) missense possibly damaging 0.70
R1346:Chrng UTSW 1 87,135,985 (GRCm39) missense probably benign 0.09
R1368:Chrng UTSW 1 87,133,575 (GRCm39) missense probably damaging 1.00
R1588:Chrng UTSW 1 87,135,229 (GRCm39) missense probably damaging 1.00
R1703:Chrng UTSW 1 87,138,628 (GRCm39) missense possibly damaging 0.63
R2852:Chrng UTSW 1 87,134,428 (GRCm39) missense probably benign 0.01
R3707:Chrng UTSW 1 87,138,333 (GRCm39) nonsense probably null
R4780:Chrng UTSW 1 87,135,246 (GRCm39) missense probably damaging 1.00
R5818:Chrng UTSW 1 87,137,523 (GRCm39) missense probably benign 0.45
R5871:Chrng UTSW 1 87,134,451 (GRCm39) missense possibly damaging 0.95
R6058:Chrng UTSW 1 87,139,074 (GRCm39) missense probably damaging 1.00
R6136:Chrng UTSW 1 87,137,523 (GRCm39) missense probably benign 0.45
R7086:Chrng UTSW 1 87,138,735 (GRCm39) missense probably benign 0.06
R7229:Chrng UTSW 1 87,137,166 (GRCm39) missense probably benign 0.27
R7261:Chrng UTSW 1 87,134,962 (GRCm39) splice site probably null
R7572:Chrng UTSW 1 87,136,836 (GRCm39) missense probably damaging 1.00
R7666:Chrng UTSW 1 87,137,175 (GRCm39) missense probably benign 0.05
R8132:Chrng UTSW 1 87,133,718 (GRCm39) missense unknown
R8865:Chrng UTSW 1 87,135,219 (GRCm39) missense probably damaging 1.00
R8902:Chrng UTSW 1 87,138,397 (GRCm39) missense possibly damaging 0.84
R9535:Chrng UTSW 1 87,139,202 (GRCm39) missense probably benign 0.00
T0975:Chrng UTSW 1 87,138,348 (GRCm39) missense probably benign 0.00
X0063:Chrng UTSW 1 87,134,428 (GRCm39) missense probably benign 0.01
Z1177:Chrng UTSW 1 87,134,020 (GRCm39) missense probably benign 0.10
Z1177:Chrng UTSW 1 87,133,717 (GRCm39) missense unknown
Z1177:Chrng UTSW 1 87,136,025 (GRCm39) missense probably damaging 0.99
Z1177:Chrng UTSW 1 87,135,985 (GRCm39) missense probably benign 0.09
Posted On 2015-12-18