Incidental Mutation 'R5224:Gphn'
ID 402515
Institutional Source Beutler Lab
Gene Symbol Gphn
Ensembl Gene ENSMUSG00000047454
Gene Name gephyrin
Synonyms 5730552E08Rik, geph
MMRRC Submission 042797-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5224 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 78273153-78731546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78637361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 354 (F354I)
Ref Sequence ENSEMBL: ENSMUSP00000054064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052472] [ENSMUST00000110388]
AlphaFold Q8BUV3
Predicted Effect probably damaging
Transcript: ENSMUST00000052472
AA Change: F354I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054064
Gene: ENSMUSG00000047454
AA Change: F354I

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: F357I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106018
Gene: ENSMUSG00000047454
AA Change: F357I

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
Meta Mutation Damage Score 0.2835 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (58/59)
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
Abtb3 CGTGACCTTTCTGGT CGT 10: 85,481,386 (GRCm39) probably benign Het
Ahi1 A G 10: 20,862,921 (GRCm39) S699G probably damaging Het
Atp10d C T 5: 72,426,669 (GRCm39) A959V probably benign Het
Axl T C 7: 25,486,369 (GRCm39) M112V probably benign Het
Brd10 A T 19: 29,696,450 (GRCm39) S1014R possibly damaging Het
Camk1g A T 1: 193,037,342 (GRCm39) D119E probably damaging Het
Capn8 A C 1: 182,424,554 (GRCm39) N117T probably damaging Het
Cct3 G A 3: 88,204,532 (GRCm39) probably benign Het
Csmd3 T C 15: 47,752,080 (GRCm39) T1293A possibly damaging Het
Depdc1b A G 13: 108,521,354 (GRCm39) D387G probably damaging Het
Dtx3l A G 16: 35,759,163 (GRCm39) Y29H possibly damaging Het
Erp44 A T 4: 48,279,435 (GRCm39) N2K probably benign Het
Fmn1 A G 2: 113,195,470 (GRCm39) E390G unknown Het
Ganab T A 19: 8,887,955 (GRCm39) D396E probably benign Het
Gatd3a A G 10: 77,999,367 (GRCm39) V148A probably damaging Het
Gcc2 T A 10: 58,121,982 (GRCm39) S1140T probably damaging Het
Gm7008 T C 12: 40,273,342 (GRCm39) probably benign Het
H2-T7 G A 17: 36,454,231 (GRCm39) noncoding transcript Het
Hnrnpul1 G A 7: 25,444,600 (GRCm39) T236M probably damaging Het
Itpr2 T A 6: 146,068,149 (GRCm39) M2410L probably benign Het
Jaml T A 9: 45,015,564 (GRCm39) M356K probably damaging Het
Kbtbd12 T A 6: 88,594,681 (GRCm39) probably benign Het
Ldlrad3 G T 2: 101,943,954 (GRCm39) N39K probably damaging Het
Lrp1b G A 2: 41,000,852 (GRCm39) T2238I possibly damaging Het
Lypd8 T A 11: 58,277,634 (GRCm39) C139S possibly damaging Het
Masp1 G T 16: 23,313,445 (GRCm39) H163Q probably damaging Het
Mpo T C 11: 87,687,283 (GRCm39) probably benign Het
Muc19 A T 15: 91,825,910 (GRCm39) noncoding transcript Het
Muc5ac T A 7: 141,347,708 (GRCm39) S438T probably benign Het
Nav2 T C 7: 49,201,473 (GRCm39) V160A probably benign Het
Nlrc5 G T 8: 95,220,944 (GRCm39) A1128S probably benign Het
Nlrp5 T A 7: 23,117,401 (GRCm39) L375Q probably damaging Het
Nlrp9a A G 7: 26,256,717 (GRCm39) T112A probably benign Het
Nppa T C 4: 148,085,773 (GRCm39) S127P probably damaging Het
Or8k24 A G 2: 86,216,193 (GRCm39) S190P possibly damaging Het
Osbpl1a T C 18: 13,066,753 (GRCm39) N2S probably benign Het
Otoa A G 7: 120,739,016 (GRCm39) T742A probably damaging Het
Pcdh10 A G 3: 45,347,249 (GRCm39) R1015G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Plpp1 T A 13: 112,988,046 (GRCm39) Y56* probably null Het
Ppp1r12a A G 10: 108,096,886 (GRCm39) T236A probably benign Het
Rhag T C 17: 41,139,395 (GRCm39) L110P probably damaging Het
Scn11a T A 9: 119,583,858 (GRCm39) N1586Y probably damaging Het
Sgms2 T A 3: 131,135,766 (GRCm39) K36I probably damaging Het
Slc22a2 A G 17: 12,805,719 (GRCm39) N157D probably damaging Het
Stx19 T G 16: 62,642,937 (GRCm39) M251R probably benign Het
Suco A G 1: 161,662,274 (GRCm39) I719T probably benign Het
Tnr A G 1: 159,750,885 (GRCm39) D1282G probably damaging Het
Tram1 T C 1: 13,648,349 (GRCm39) R154G probably benign Het
Ubtfl1 G T 9: 18,321,326 (GRCm39) V285L probably benign Het
Ugt2b38 A G 5: 87,571,601 (GRCm39) S144P probably benign Het
Washc2 T G 6: 116,185,965 (GRCm39) *58G probably null Het
Zfp354a T A 11: 50,960,876 (GRCm39) S362R probably 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
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
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'- CAGGACAAATAGTGTTTCACCAGG -3'
(R):5'- GCACCATCTTTAGGGTATTGAAC -3'

Sequencing Primer
(F):5'- GTGTTTCACCAGGACCCAGAAATTG -3'
(R):5'- TTTTGGATAAAAAGGACAGATGGCCC -3'
Posted On 2016-07-22