Incidental Mutation 'R8377:Gphn'
ID 646768
Institutional Source Beutler Lab
Gene Symbol Gphn
Ensembl Gene ENSMUSG00000047454
Gene Name gephyrin
Synonyms 5730552E08Rik, geph
MMRRC Submission 067745-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8377 (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 A at 78711280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 621 (V621M)
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: V618M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054064
Gene: ENSMUSG00000047454
AA Change: V618M

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: V621M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106018
Gene: ENSMUSG00000047454
AA Change: V621M

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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
Acot3 C A 12: 84,105,561 (GRCm39) C251* probably null Het
Acsbg1 A G 9: 54,529,789 (GRCm39) C273R probably damaging Het
Adh6a A G 3: 138,031,884 (GRCm39) T259A probably damaging Het
Aknad1 A G 3: 108,689,255 (GRCm39) H639R possibly damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Ampd3 A G 7: 110,399,937 (GRCm39) R342G probably damaging Het
Arid5b G T 10: 67,933,217 (GRCm39) A895E probably damaging Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Bmp8a G T 4: 123,236,482 (GRCm39) P7Q unknown Het
Boll A C 1: 55,362,837 (GRCm39) V187G possibly damaging Het
Ccdc162 A T 10: 41,457,306 (GRCm39) C1544S probably benign Het
Cmss1 A C 16: 57,127,757 (GRCm39) M182R possibly damaging Het
Cntn3 T C 6: 102,186,254 (GRCm39) M578V probably benign Het
Dmxl2 A T 9: 54,286,032 (GRCm39) W2718R probably damaging Het
Dsg1a T A 18: 20,466,831 (GRCm39) I567N probably damaging Het
Epc2 T A 2: 49,412,527 (GRCm39) D168E probably damaging Het
Ern2 G A 7: 121,780,515 (GRCm39) Q162* probably null Het
F11r G T 1: 171,265,111 (GRCm39) probably benign Het
Fcgrt T C 7: 44,751,987 (GRCm39) Y59C probably damaging Het
Fmn2 G T 1: 174,436,011 (GRCm39) E661* probably null Het
Gbp4 T A 5: 105,266,328 (GRCm39) Q571L probably benign Het
Gm29106 A T 1: 118,126,593 (GRCm39) H95L probably damaging Het
Grwd1 T C 7: 45,480,036 (GRCm39) Y57C probably damaging Het
Insyn2b C A 11: 34,351,964 (GRCm39) A2D probably damaging Het
Irs2 G A 8: 11,054,848 (GRCm39) Q1195* probably null Het
Itpr1 G C 6: 108,487,699 (GRCm39) C2375S probably benign Het
Kcnmb4 A T 10: 116,282,290 (GRCm39) Y136N probably benign Het
Matn2 C T 15: 34,345,511 (GRCm39) P173S probably damaging Het
Med17 A C 9: 15,173,655 (GRCm39) D606E probably damaging Het
Mpl A G 4: 118,301,254 (GRCm39) V537A Het
Mrpl1 C G 5: 96,374,226 (GRCm39) A167G probably benign Het
Mrpl21 T C 19: 3,342,487 (GRCm39) F206S unknown Het
Msh6 T A 17: 88,292,598 (GRCm39) M451K probably damaging Het
Myo10 T C 15: 25,804,481 (GRCm39) I1592T possibly damaging Het
Naip1 A T 13: 100,562,374 (GRCm39) D930E possibly damaging Het
Necap2 T C 4: 140,795,534 (GRCm39) I242V probably benign Het
Nfya A G 17: 48,699,073 (GRCm39) V240A possibly damaging Het
Olfml2b A G 1: 170,496,353 (GRCm39) D328G probably damaging Het
Or10ak13 A T 4: 118,639,203 (GRCm39) M193K probably benign Het
Or4k35 T A 2: 111,099,983 (GRCm39) H243L probably damaging Het
Or5b24 T G 19: 12,912,399 (GRCm39) V99G probably benign Het
Or5p53 T G 7: 107,532,892 (GRCm39) L55R probably damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pkd1l3 T C 8: 110,361,982 (GRCm39) V1018A probably benign Het
Plcg1 T C 2: 160,596,842 (GRCm39) L761P probably damaging Het
Ppp1r36 T C 12: 76,485,215 (GRCm39) S313P possibly damaging Het
Ptpru C A 4: 131,535,646 (GRCm39) G444C probably damaging Het
Rfxank A T 8: 70,587,960 (GRCm39) V149D probably damaging Het
Rimbp2 G A 5: 128,857,395 (GRCm39) H819Y probably damaging Het
Sgms1 T C 19: 32,101,821 (GRCm39) Y395C probably damaging Het
Siae G A 9: 37,542,901 (GRCm39) probably null Het
Slc46a2 T A 4: 59,914,713 (GRCm39) D70V probably damaging Het
Smpdl3a A C 10: 57,677,032 (GRCm39) L43F possibly damaging Het
Spcs1 T A 14: 30,722,103 (GRCm39) D146V possibly damaging Het
Srcin1 T C 11: 97,442,804 (GRCm39) D8G probably damaging Het
Stra6 G T 9: 58,056,488 (GRCm39) L373F probably damaging Het
Tacc1 A T 8: 25,672,299 (GRCm39) S310T possibly damaging Het
Tlr12 T C 4: 128,509,566 (GRCm39) S895G probably benign Het
Tnfaip3 A G 10: 18,887,258 (GRCm39) V89A probably damaging Het
Top1 C T 2: 160,488,009 (GRCm39) probably benign Het
Trappc13 T G 13: 104,297,509 (GRCm39) I132L probably benign Het
Trpt1 C T 19: 6,976,349 (GRCm39) Q249* probably null Het
Tsnaxip1 A C 8: 106,569,179 (GRCm39) K510Q probably damaging Het
Usp39 A T 6: 72,305,657 (GRCm39) N375K probably benign Het
Vldlr T A 19: 27,212,258 (GRCm39) C91S probably damaging Het
Vmn1r232 T A 17: 21,134,239 (GRCm39) L120F probably benign Het
Vmn2r71 T C 7: 85,264,707 (GRCm39) V13A probably benign Het
Wdr11 T A 7: 129,208,412 (GRCm39) V389E possibly damaging Het
Wsb2 A T 5: 117,514,766 (GRCm39) I321F possibly damaging Het
Zan A T 5: 137,389,949 (GRCm39) V4841E unknown Het
Zfy1 A T Y: 725,723 (GRCm39) F681I possibly damaging Het
Zpld1 C A 16: 55,067,017 (GRCm39) E179D 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
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
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'- GGGTTATATCCCCTTGAGCCTC -3'
(R):5'- AGGGCACTGAACATGGTAATTAC -3'

Sequencing Primer
(F):5'- TTGAGCCTCTACATATACAGAGC -3'
(R):5'- TTCAAACTGGAACTGCACATATG -3'
Posted On 2020-09-02