Incidental Mutation 'R6563:Gphn'
ID 522571
Institutional Source Beutler Lab
Gene Symbol Gphn
Ensembl Gene ENSMUSG00000047454
Gene Name gephyrin
Synonyms 5730552E08Rik, geph
MMRRC Submission 044687-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6563 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 78273153-78731546 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 78727170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052472] [ENSMUST00000110388]
AlphaFold Q8BUV3
Predicted Effect probably null
Transcript: ENSMUST00000052472
SMART Domains Protein: ENSMUSP00000054064
Gene: ENSMUSG00000047454

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 null
Transcript: ENSMUST00000110388
SMART Domains Protein: ENSMUSP00000106018
Gene: ENSMUSG00000047454

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219629
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (39/39)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap11a A T 2: 113,664,247 (GRCm39) C679S probably benign Het
Atg4d C T 9: 21,179,756 (GRCm39) L235F possibly damaging Het
Cyp2d22 A T 15: 82,256,113 (GRCm39) W174R probably damaging Het
Cyp4a14 T A 4: 115,349,283 (GRCm39) H259L probably benign Het
Dennd3 A T 15: 73,416,229 (GRCm39) H493L probably damaging Het
Dnm1 T A 2: 32,202,738 (GRCm39) D759V probably damaging Het
Dvl1 T A 4: 155,940,710 (GRCm39) N443K probably damaging Het
Dync2h1 A G 9: 7,120,819 (GRCm39) V2156A probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Ermp1 T C 19: 29,601,178 (GRCm39) D523G probably damaging Het
Fam83c A G 2: 155,672,872 (GRCm39) V295A probably damaging Het
Irs1 T A 1: 82,266,128 (GRCm39) N696I probably damaging Het
Kmt5c A G 7: 4,745,628 (GRCm39) Y96C probably damaging Het
Krt77 G T 15: 101,771,358 (GRCm39) T315N probably damaging Het
L3mbtl3 A C 10: 26,178,761 (GRCm39) probably null Het
Lama3 A T 18: 12,670,823 (GRCm39) Y2409F probably damaging Het
Lrrc9 A G 12: 72,533,169 (GRCm39) probably null Het
Ltbp4 A T 7: 27,008,488 (GRCm39) N1273K probably damaging Het
Mfsd13b G A 7: 120,594,690 (GRCm39) A321T probably damaging Het
Mvb12b A T 2: 33,715,128 (GRCm39) H167Q probably benign Het
Myo1g T A 11: 6,467,146 (GRCm39) N230Y possibly damaging Het
Or7a41 A T 10: 78,871,051 (GRCm39) R140S possibly damaging Het
Prkar2b G T 12: 32,043,785 (GRCm39) probably null Het
Pwwp2a G T 11: 43,596,592 (GRCm39) A586S possibly damaging Het
Ryr1 A G 7: 28,794,917 (GRCm39) V1150A possibly damaging Het
Sh3bgr A G 16: 96,007,143 (GRCm39) probably null Het
Slk T C 19: 47,624,908 (GRCm39) probably null Het
Snx3 A G 10: 42,402,032 (GRCm39) E82G possibly damaging Het
Spring1 T C 5: 118,397,047 (GRCm39) V92A possibly damaging Het
Srcin1 A T 11: 97,425,600 (GRCm39) Y486N possibly damaging Het
Tecpr2 A G 12: 110,895,521 (GRCm39) E336G probably benign Het
Terf2ip G T 8: 112,744,834 (GRCm39) V384F probably damaging Het
Tnn T A 1: 159,915,968 (GRCm39) S1250C probably damaging Het
Tspoap1 A G 11: 87,667,985 (GRCm39) E1263G possibly damaging Het
Tubgcp5 A G 7: 55,475,409 (GRCm39) R932G possibly damaging Het
Utp25 C A 1: 192,800,698 (GRCm39) R374L probably damaging Het
Vmn1r175 A G 7: 23,508,030 (GRCm39) I199T possibly damaging Het
Vmn1r225 C T 17: 20,722,763 (GRCm39) A68V probably benign Het
Vmn2r24 A T 6: 123,781,137 (GRCm39) N448Y 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
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
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'- CAATCACTTCTATCATGCCTGAATG -3'
(R):5'- TGAAGCCTTGTTCTCTGGATTC -3'

Sequencing Primer
(F):5'- CTATCATGCCTGAATGTATAAGCAG -3'
(R):5'- TCTATGTCCTCTGGAAGAACAGC -3'
Posted On 2018-06-06