Incidental Mutation 'R6958:Gphn'
ID 541598
Institutional Source Beutler Lab
Gene Symbol Gphn
Ensembl Gene ENSMUSG00000047454
Gene Name gephyrin
Synonyms 5730552E08Rik, geph
MMRRC Submission 045009-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6958 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 78273153-78731546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 78727073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 662 (V662L)
Ref Sequence ENSEMBL: ENSMUSP00000054064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052472] [ENSMUST00000110388]
AlphaFold Q8BUV3
Predicted Effect possibly damaging
Transcript: ENSMUST00000052472
AA Change: V662L

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054064
Gene: ENSMUSG00000047454
AA Change: V662L

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: V665L

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106018
Gene: ENSMUSG00000047454
AA Change: V665L

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: 99.2%
  • 20x: 96.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,649,558 (GRCm39) D159G probably benign Het
Ahnak A G 19: 8,992,579 (GRCm39) N4621S possibly damaging Het
Ankrd16 C T 2: 11,784,604 (GRCm39) A144V probably damaging Het
Bhmt1b G A 18: 87,775,046 (GRCm39) E190K probably benign Het
Ccdc14 T C 16: 34,511,176 (GRCm39) V2A probably damaging Het
Ccdc187 C T 2: 26,179,731 (GRCm39) V243I probably benign Het
Cdk12 A T 11: 98,132,525 (GRCm39) I985F unknown Het
Cfap65 T C 1: 74,971,058 (GRCm39) T87A possibly damaging Het
Cilp2 G A 8: 70,335,190 (GRCm39) P603S probably benign Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Cpa6 C T 1: 10,665,913 (GRCm39) V42M probably damaging Het
Cpsf4 A G 5: 145,112,402 (GRCm39) I115V probably benign Het
Dnah11 G T 12: 117,897,544 (GRCm39) P3562Q probably damaging Het
Dnah9 A G 11: 65,967,167 (GRCm39) F1664L probably damaging Het
Dpysl3 T C 18: 43,571,067 (GRCm39) Q69R probably benign Het
Ebf3 T C 7: 136,800,994 (GRCm39) T455A possibly damaging Het
Eif2ak3 T A 6: 70,869,667 (GRCm39) C785S probably benign Het
Elk4 T A 1: 131,945,570 (GRCm39) F149L probably damaging Het
Fgf14 A G 14: 124,914,009 (GRCm39) W41R probably benign Het
Fmnl1 T A 11: 103,062,140 (GRCm39) M1K probably null Het
Foxk2 A T 11: 121,190,563 (GRCm39) Q568L probably benign Het
Fryl T G 5: 73,231,272 (GRCm39) I1602L possibly damaging Het
Gfm2 A G 13: 97,282,744 (GRCm39) I75V probably damaging Het
Gm3233 T A 10: 77,595,369 (GRCm39) probably benign Het
Gnb1 G T 4: 155,627,651 (GRCm39) probably null Het
Il3 A C 11: 54,157,937 (GRCm39) V47G probably benign Het
Iqgap3 A G 3: 88,020,673 (GRCm39) D401G possibly damaging Het
Kdm3b T A 18: 34,941,336 (GRCm39) S276T probably benign Het
Krtap6-2 A G 16: 89,216,698 (GRCm39) S90P unknown Het
Lars1 C T 18: 42,369,704 (GRCm39) V394I probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrp10 A G 14: 54,707,278 (GRCm39) probably benign Het
Ltn1 A T 16: 87,194,679 (GRCm39) C1407S probably benign Het
Lzts2 G T 19: 45,012,582 (GRCm39) probably benign Het
Msantd2 A G 9: 37,434,753 (GRCm39) E331G probably damaging Het
Myo15a G A 11: 60,394,451 (GRCm39) G1218S probably benign Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nhp2 A G 11: 51,513,934 (GRCm39) T118A probably benign Het
Nup155 A G 15: 8,176,638 (GRCm39) Y972C probably damaging Het
Nxpe2 A T 9: 48,237,566 (GRCm39) C230S probably damaging Het
Or12d13 T C 17: 37,647,308 (GRCm39) I272V probably benign Het
Or51g2 A G 7: 102,623,091 (GRCm39) L36P possibly damaging Het
Or5w8 T C 2: 87,688,295 (GRCm39) Y259H probably damaging Het
Pfkfb4 A T 9: 108,839,615 (GRCm39) N244I probably damaging Het
Pi4ka C T 16: 17,143,091 (GRCm39) R24Q probably damaging Het
Pkd2l2 C A 18: 34,542,543 (GRCm39) Y8* probably null Het
Pramel20 A T 4: 143,297,829 (GRCm39) D83V probably damaging Het
Ptprb T A 10: 116,113,153 (GRCm39) N44K probably benign Het
Sds G A 5: 120,619,537 (GRCm39) V149M probably damaging Het
Slc22a30 A G 19: 8,364,065 (GRCm39) F204L probably damaging Het
Slc26a7 C T 4: 14,506,442 (GRCm39) A636T probably benign Het
Slc27a1 C T 8: 72,038,083 (GRCm39) A577V possibly damaging Het
Spata13 A T 14: 60,989,300 (GRCm39) T319S possibly damaging Het
Styxl2 T A 1: 165,935,565 (GRCm39) D211V probably damaging Het
Tdrd3 A G 14: 87,694,532 (GRCm39) D29G probably damaging Het
Tex15 A T 8: 34,060,899 (GRCm39) I110L probably benign Het
Treml2 A G 17: 48,615,180 (GRCm39) T222A probably damaging Het
Trpd52l3 A T 19: 29,981,546 (GRCm39) L100F probably damaging Het
Ttf2 C T 3: 100,853,248 (GRCm39) E975K probably benign Het
Vmn1r193 T A 13: 22,404,144 (GRCm39) probably benign Het
Xpo1 A G 11: 23,235,855 (GRCm39) T648A probably benign Het
Zfp641 C T 15: 98,190,832 (GRCm39) V71I 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
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
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'- GGTTAACTGGACCTCTATTCTGT -3'
(R):5'- AGTGAATTTCCCTTTCTAGTTTCTAC -3'

Sequencing Primer
(F):5'- CCTGGAACTCATTCTGTAGATCAGG -3'
(R):5'- GAGACATTACCCTGGCTTT -3'
Posted On 2018-11-28