Incidental Mutation 'R7680:Gphn'
ID 592717
Institutional Source Beutler Lab
Gene Symbol Gphn
Ensembl Gene ENSMUSG00000047454
Gene Name gephyrin
Synonyms 5730552E08Rik, geph
MMRRC Submission 045746-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7680 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 78273153-78731546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 78459148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 79 (L79I)
Ref Sequence ENSEMBL: ENSMUSP00000106018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052472] [ENSMUST00000110388]
AlphaFold Q8BUV3
Predicted Effect probably damaging
Transcript: ENSMUST00000052472
AA Change: L79I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000054064
Gene: ENSMUSG00000047454
AA Change: L79I

DomainStartEndE-ValueType
MoCF_biosynth 18 165 4.52e-27 SMART
low complexity region 186 201 N/A INTRINSIC
Pfam:MoeA_N 356 522 5.6e-53 PFAM
MoCF_biosynth 535 678 8.1e-38 SMART
Pfam:MoeA_C 691 766 8.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110388
AA Change: L79I

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106018
Gene: ENSMUSG00000047454
AA Change: L79I

DomainStartEndE-ValueType
MoCF_biosynth 18 165 4.52e-27 SMART
low complexity region 186 201 N/A INTRINSIC
Pfam:MoeA_N 360 525 2.1e-35 PFAM
MoCF_biosynth 538 681 8.1e-38 SMART
Pfam:MoeA_C 694 769 8.1e-26 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene die within one day of birth, apparently due to an inability to suckle. Apnea also develops within 12 hours of birth. [provided by MGI curators]
Allele List at MGI

All alleles(11) : Targeted, knock-out(1) Gene trapped(10)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510002D24Rik A G 16: 18,657,958 (GRCm39) D104G possibly damaging Het
Ahi1 G T 10: 20,883,667 (GRCm39) C844F possibly damaging Het
Bspry T C 4: 62,414,828 (GRCm39) *474Q probably null Het
Car9 T A 4: 43,507,250 (GRCm39) D65E probably damaging Het
Ccdc110 T A 8: 46,394,688 (GRCm39) M193K possibly damaging Het
Ccdc166 A G 15: 75,853,056 (GRCm39) S304P possibly damaging Het
Cdcp1 T C 9: 123,012,584 (GRCm39) Q321R probably damaging Het
Cic T C 7: 24,991,856 (GRCm39) V2255A probably damaging Het
Cmc2 A T 8: 117,620,849 (GRCm39) M44K probably damaging Het
Crls1 A G 2: 132,704,258 (GRCm39) T223A probably damaging Het
Ctnna3 A T 10: 64,323,329 (GRCm39) H488L probably benign Het
Cyp2r1 A T 7: 114,152,054 (GRCm39) I301N probably damaging Het
Dkk3 A T 7: 111,718,570 (GRCm39) L272Q probably damaging Het
Dnah14 A G 1: 181,513,365 (GRCm39) N1906S probably benign Het
Gm13271 T C 4: 88,673,367 (GRCm39) V88A probably benign Het
Gpr15 A T 16: 58,538,328 (GRCm39) W254R probably damaging Het
H2-M2 T C 17: 37,793,916 (GRCm39) R103G possibly damaging Het
Hcn4 T C 9: 58,767,954 (GRCm39) S1172P probably benign Het
Htr1a A G 13: 105,581,539 (GRCm39) S260G probably benign Het
Iftap T C 2: 101,440,901 (GRCm39) E34G probably damaging Het
Kif21b G T 1: 136,075,607 (GRCm39) probably null Het
Lamp1 T C 8: 13,217,812 (GRCm39) Y131H probably benign Het
Lrrc47 A C 4: 154,100,558 (GRCm39) N378T probably benign Het
Manea A T 4: 26,340,649 (GRCm39) H104Q probably damaging Het
Map4k3 A G 17: 80,889,305 (GRCm39) I888T probably benign Het
Mark3 T C 12: 111,613,207 (GRCm39) M557T probably benign Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myh6 C A 14: 55,186,190 (GRCm39) C1413F possibly damaging Het
Myorg C A 4: 41,497,978 (GRCm39) D551Y probably damaging Het
Ncr1 T A 7: 4,341,123 (GRCm39) M38K possibly damaging Het
Nid2 A G 14: 19,829,715 (GRCm39) T669A probably damaging Het
Or6e1 T A 14: 54,519,837 (GRCm39) I172F probably damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plekha7 A G 7: 115,763,511 (GRCm39) Y364H probably benign Het
Plxnb1 T A 9: 108,929,571 (GRCm39) Y142* probably null Het
Ptprn T C 1: 75,224,537 (GRCm39) I940V probably benign Het
Rnf213 T C 11: 119,370,382 (GRCm39) V4728A Het
Samd9l A T 6: 3,372,569 (GRCm39) L1564Q probably damaging Het
Samd9l A G 6: 3,376,469 (GRCm39) I264T probably damaging Het
Slc16a7 T C 10: 125,066,805 (GRCm39) D278G probably benign Het
Slc35f2 T A 9: 53,715,396 (GRCm39) V214E probably damaging Het
Slc7a5 A C 8: 122,634,006 (GRCm39) S114A probably damaging Het
St6galnac3 A G 3: 152,911,047 (GRCm39) S305P probably damaging Het
Stat1 G A 1: 52,183,368 (GRCm39) R378Q probably damaging Het
Tnfrsf9 T G 4: 151,014,395 (GRCm39) C31W probably damaging Het
Tnk1 T C 11: 69,747,571 (GRCm39) E61G possibly damaging Het
Tnks1bp1 T A 2: 84,889,585 (GRCm39) D637E probably benign Het
Ttc17 C T 2: 94,196,889 (GRCm39) G486D probably benign Het
Vmn1r30 T A 6: 58,412,284 (GRCm39) R183* probably null Het
Vmn2r78 A G 7: 86,604,149 (GRCm39) T776A probably damaging Het
Wrap73 A G 4: 154,241,079 (GRCm39) E444G probably benign Het
Zc3h13 C T 14: 75,567,955 (GRCm39) R1083C probably damaging Het
Zfp189 A G 4: 49,521,547 (GRCm39) probably benign Het
Other mutations in Gphn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Gphn APN 12 78,551,406 (GRCm39) missense probably damaging 1.00
IGL00701:Gphn APN 12 78,672,941 (GRCm39) missense possibly damaging 0.93
IGL00844:Gphn APN 12 78,711,342 (GRCm39) splice site probably benign
IGL01517:Gphn APN 12 78,423,148 (GRCm39) missense probably damaging 1.00
IGL02499:Gphn APN 12 78,539,074 (GRCm39) missense probably benign 0.17
IGL02827:Gphn APN 12 78,655,994 (GRCm39) missense probably damaging 1.00
IGL03136:Gphn APN 12 78,528,107 (GRCm39) missense possibly damaging 0.69
IGL03348:Gphn APN 12 78,673,893 (GRCm39) missense probably damaging 0.99
IGL03382:Gphn APN 12 78,528,087 (GRCm39) missense probably damaging 1.00
grizzlies UTSW 12 78,701,654 (GRCm39) missense probably benign 0.28
3-1:Gphn UTSW 12 78,659,775 (GRCm39) missense probably benign 0.06
R0054:Gphn UTSW 12 78,684,277 (GRCm39) missense probably damaging 1.00
R0054:Gphn UTSW 12 78,684,277 (GRCm39) missense probably damaging 1.00
R0212:Gphn UTSW 12 78,684,326 (GRCm39) missense probably damaging 0.99
R0389:Gphn UTSW 12 78,637,433 (GRCm39) missense probably damaging 1.00
R0535:Gphn UTSW 12 78,538,824 (GRCm39) missense possibly damaging 0.90
R1464:Gphn UTSW 12 78,659,738 (GRCm39) splice site probably benign
R1503:Gphn UTSW 12 78,551,403 (GRCm39) missense possibly damaging 0.94
R1606:Gphn UTSW 12 78,730,657 (GRCm39) missense probably damaging 1.00
R1896:Gphn UTSW 12 78,459,128 (GRCm39) missense possibly damaging 0.74
R2248:Gphn UTSW 12 78,501,595 (GRCm39) missense probably damaging 1.00
R3708:Gphn UTSW 12 78,579,467 (GRCm39) missense probably benign
R3907:Gphn UTSW 12 78,540,716 (GRCm39) splice site probably benign
R4537:Gphn UTSW 12 78,540,788 (GRCm39) missense probably benign 0.03
R4667:Gphn UTSW 12 78,501,591 (GRCm39) missense probably damaging 1.00
R4808:Gphn UTSW 12 78,701,654 (GRCm39) missense probably benign 0.28
R4840:Gphn UTSW 12 78,569,729 (GRCm39) critical splice donor site probably null
R4852:Gphn UTSW 12 78,673,984 (GRCm39) missense probably damaging 1.00
R4854:Gphn UTSW 12 78,673,984 (GRCm39) missense probably damaging 1.00
R4855:Gphn UTSW 12 78,673,984 (GRCm39) missense probably damaging 1.00
R5083:Gphn UTSW 12 78,670,063 (GRCm39) splice site probably null
R5224:Gphn UTSW 12 78,637,361 (GRCm39) missense probably damaging 0.99
R5580:Gphn UTSW 12 78,538,818 (GRCm39) missense probably damaging 1.00
R5626:Gphn UTSW 12 78,730,671 (GRCm39) missense probably benign 0.11
R6270:Gphn UTSW 12 78,569,724 (GRCm39) missense probably benign
R6563:Gphn UTSW 12 78,727,170 (GRCm39) critical splice donor site probably null
R6943:Gphn UTSW 12 78,538,955 (GRCm39) missense possibly damaging 0.88
R6958:Gphn UTSW 12 78,727,073 (GRCm39) missense possibly damaging 0.86
R7170:Gphn UTSW 12 78,730,663 (GRCm39) missense possibly damaging 0.67
R7295:Gphn UTSW 12 78,538,876 (GRCm39) missense probably benign 0.02
R7514:Gphn UTSW 12 78,672,939 (GRCm39) missense probably damaging 0.97
R7537:Gphn UTSW 12 78,551,454 (GRCm39) missense possibly damaging 0.62
R8236:Gphn UTSW 12 78,711,311 (GRCm39) missense probably damaging 1.00
R8377:Gphn UTSW 12 78,711,280 (GRCm39) missense probably damaging 1.00
R8409:Gphn UTSW 12 78,659,784 (GRCm39) missense probably damaging 1.00
R8468:Gphn UTSW 12 78,273,601 (GRCm39) missense probably benign 0.22
R8742:Gphn UTSW 12 78,659,766 (GRCm39) missense probably damaging 1.00
R8832:Gphn UTSW 12 78,459,174 (GRCm39) synonymous silent
R8845:Gphn UTSW 12 78,538,953 (GRCm39) missense probably benign 0.30
R8972:Gphn UTSW 12 78,656,013 (GRCm39) critical splice donor site probably null
R9254:Gphn UTSW 12 78,674,036 (GRCm39) critical splice donor site probably null
R9287:Gphn UTSW 12 78,609,646 (GRCm39) missense possibly damaging 0.68
R9355:Gphn UTSW 12 78,538,968 (GRCm39) missense probably damaging 0.97
R9536:Gphn UTSW 12 78,609,636 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- ATCCGCATTTTCTTTACCAACAAG -3'
(R):5'- GTGCCATTCTAACTGTCAAAAGTTTG -3'

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