Incidental Mutation 'R0212:Gphn'
ID 33560
Institutional Source Beutler Lab
Gene Symbol Gphn
Ensembl Gene ENSMUSG00000047454
Gene Name gephyrin
Synonyms 5730552E08Rik, geph
MMRRC Submission 038463-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0212 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 78273153-78731546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78684326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 577 (T577I)
Ref Sequence ENSEMBL: ENSMUSP00000106018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052472] [ENSMUST00000110388]
AlphaFold Q8BUV3
Predicted Effect probably benign
Transcript: ENSMUST00000052472
AA Change: T574I

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000054064
Gene: ENSMUSG00000047454
AA Change: T574I

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 damaging
Transcript: ENSMUST00000110388
AA Change: T577I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106018
Gene: ENSMUSG00000047454
AA Change: T577I

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 G A 5: 36,006,254 (GRCm39) probably null Het
Adat1 T A 8: 112,713,840 (GRCm39) D113V possibly damaging Het
Arhgap40 T G 2: 158,392,495 (GRCm39) L656V probably damaging Het
Atg2a T C 19: 6,296,584 (GRCm39) I330T probably damaging Het
Cad A G 5: 31,235,454 (GRCm39) D2137G probably damaging Het
Cd8a G A 6: 71,350,633 (GRCm39) E33K probably benign Het
Cemip C A 7: 83,622,398 (GRCm39) G594C probably damaging Het
Chd6 T A 2: 160,894,767 (GRCm39) D31V probably damaging Het
Cmpk1 A T 4: 114,822,216 (GRCm39) M111K possibly damaging Het
Crispld2 T G 8: 120,737,370 (GRCm39) H40Q probably benign Het
Depdc5 A G 5: 33,069,586 (GRCm39) T441A probably benign Het
Dpm1 T C 2: 168,069,414 (GRCm39) N5S probably benign Het
Ercc4 A G 16: 12,941,196 (GRCm39) probably null Het
Fam83f A T 15: 80,574,779 (GRCm39) M229L probably benign Het
Fgd5 A T 6: 91,965,189 (GRCm39) D474V probably damaging Het
Fgf21 G T 7: 45,263,526 (GRCm39) P184Q probably benign Het
Fry A T 5: 150,419,862 (GRCm39) D1008V probably damaging Het
Gjd2 T C 2: 113,841,953 (GRCm39) T175A probably benign Het
Ifi207 A T 1: 173,563,964 (GRCm39) N18K possibly damaging Het
Ifne T C 4: 88,797,972 (GRCm39) R149G possibly damaging Het
Ift80 A T 3: 68,847,506 (GRCm39) L330H probably benign Het
Inpp4b A T 8: 82,497,546 (GRCm39) H122L probably benign Het
Inpp5e T C 2: 26,298,352 (GRCm39) probably null Het
Ism1 T C 2: 139,582,177 (GRCm39) L163S probably benign Het
Itga11 T A 9: 62,653,251 (GRCm39) V375E probably benign Het
Itpr3 T G 17: 27,308,293 (GRCm39) F306V probably damaging Het
Kif19a A T 11: 114,675,736 (GRCm39) I403F possibly damaging Het
Klf12 A T 14: 100,260,298 (GRCm39) S144T probably benign Het
Lyst C T 13: 13,810,570 (GRCm39) H747Y possibly damaging Het
Mccc2 A G 13: 100,091,163 (GRCm39) Y445H probably benign Het
Mei1 G A 15: 81,980,132 (GRCm39) probably null Het
Metap2 T A 10: 93,697,242 (GRCm39) K479N probably damaging Het
Mief2 A T 11: 60,621,493 (GRCm39) D62V probably damaging Het
Mtrf1 A G 14: 79,656,719 (GRCm39) D407G probably benign Het
Myo3a A G 2: 22,296,659 (GRCm39) R210G probably damaging Het
Nkx2-2 T C 2: 147,026,090 (GRCm39) H216R probably damaging Het
Nos1 A G 5: 118,048,277 (GRCm39) E694G possibly damaging Het
Nptn A T 9: 58,535,164 (GRCm39) Y103F probably benign Het
Nrxn1 A G 17: 90,670,186 (GRCm39) probably benign Het
Numbl T C 7: 26,980,184 (GRCm39) S389P probably damaging Het
Or10d5 A G 9: 39,861,236 (GRCm39) V277A probably benign Het
Or1q1 T A 2: 36,887,644 (GRCm39) V274E possibly damaging Het
Or1q1 A T 2: 36,887,335 (GRCm39) D171V probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5d16 A G 2: 87,773,435 (GRCm39) F179S probably damaging Het
Or5i1 C T 2: 87,613,826 (GRCm39) P314L unknown Het
Or8g20 C A 9: 39,396,384 (GRCm39) S55I probably damaging Het
Osm T G 11: 4,188,465 (GRCm39) S31A probably benign Het
Paqr4 T C 17: 23,957,294 (GRCm39) M70V probably benign Het
Pikfyve T A 1: 65,302,064 (GRCm39) Y1607N probably benign Het
Plec A C 15: 76,075,505 (GRCm39) Y402* probably null Het
Polq A G 16: 36,887,216 (GRCm39) K1631E probably damaging Het
Pou6f1 A G 15: 100,478,696 (GRCm39) V129A possibly damaging Het
Prm2 A G 16: 10,609,463 (GRCm39) probably benign Het
Prtn3 A G 10: 79,716,971 (GRCm39) Y112C probably damaging Het
Qrfp T A 2: 31,698,797 (GRCm39) H45L probably benign Het
Rps6ka5 A T 12: 100,519,428 (GRCm39) probably null Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Slc10a1 A C 12: 81,014,486 (GRCm39) L78R possibly damaging Het
Slc26a5 A T 5: 22,028,547 (GRCm39) Y340* probably null Het
Sptbn2 T C 19: 4,796,970 (GRCm39) probably null Het
St3gal6 C A 16: 58,293,816 (GRCm39) A238S probably damaging Het
St3gal6 G T 16: 58,293,818 (GRCm39) A237E probably damaging Het
Tmem131l A T 3: 83,820,575 (GRCm39) S1226T probably benign Het
Togaram2 C T 17: 72,031,978 (GRCm39) L866F probably damaging Het
Txndc17 A G 11: 72,098,558 (GRCm39) T37A probably benign Het
Vmn2r105 C A 17: 20,428,827 (GRCm39) V750F possibly damaging Het
Vmn2r54 T A 7: 12,366,424 (GRCm39) Y170F probably benign Het
Wrnip1 T C 13: 33,005,889 (GRCm39) V577A probably benign Het
Zc3h7b A G 15: 81,660,529 (GRCm39) T226A probably benign Het
Zfp948 T C 17: 21,808,422 (GRCm39) I538T probably benign Het
Zzef1 A G 11: 72,764,736 (GRCm39) E1401G possibly damaging 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
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
R7680:Gphn UTSW 12 78,459,148 (GRCm39) missense probably benign 0.14
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'- AAGCTGGTGTGAAATCTGGCCGAC -3'
(R):5'- GTGAGCAGCAATGGCTTCACTATCC -3'

Sequencing Primer
(F):5'- ACATACTGGATGCTGCCATAG -3'
(R):5'- AGTCGAATGCACCTCTATTTAGGC -3'
Posted On 2013-05-09