Mutagenetix > Incidental Mutation

Incidental Mutation 'R4852:Gphn'

373656

Institutional Source

Beutler Lab

Gene Symbol

Gphn

Ensembl Gene

ENSMUSG00000047454

Gene Name

gephyrin

Synonyms

5730552E08Rik, geph

MMRRC Submission

042464-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78273153-78731546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78673984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 526 (V526M)

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: V526M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054064
Gene: ENSMUSG00000047454
AA Change: V526M

Domain	Start	End	E-Value	Type
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: V529M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106018
Gene: ENSMUSG00000047454
AA Change: V529M

Domain	Start	End	E-Value	Type
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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4921524L21Rik	C	G	18: 6,623,487 (GRCm39)	L66V	possibly damaging	Het
4921524L21Rik	T	A	18: 6,623,488 (GRCm39)	L66Q	probably damaging	Het
Abca6	A	G	11: 110,135,029 (GRCm39)	V252A	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acap1	C	T	11: 69,775,202 (GRCm39)	V354M	probably benign	Het
Accs	T	C	2: 93,674,605 (GRCm39)	D99G	probably damaging	Het
Adam9	T	C	8: 25,493,317 (GRCm39)	Y97C	probably damaging	Het
Akap6	T	C	12: 53,151,458 (GRCm39)	V1174A	probably damaging	Het
Aknad1	C	A	3: 108,659,056 (GRCm39)	D23E	probably damaging	Het
Ano2	T	C	6: 125,959,886 (GRCm39)	C666R	possibly damaging	Het
Atp4a	G	A	7: 30,423,693 (GRCm39)	A933T	probably benign	Het
Atxn2	T	C	5: 121,952,474 (GRCm39)	L224P	probably damaging	Het
Bin2	T	C	15: 100,543,169 (GRCm39)	E338G	probably damaging	Het
Bloc1s5	T	C	13: 38,818,960 (GRCm39)	K20E	probably damaging	Het
Bst1	A	T	5: 43,977,867 (GRCm39)	D72V	probably benign	Het
Cacna1i	T	C	15: 80,272,680 (GRCm39)	F1631L	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Cfap43	A	G	19: 47,885,550 (GRCm39)	I355T	possibly damaging	Het
Chuk	A	T	19: 44,077,197 (GRCm39)	M383K	possibly damaging	Het
Cnga4	A	G	7: 105,054,937 (GRCm39)	I174V	probably benign	Het
Cpd	T	C	11: 76,675,976 (GRCm39)	K1226E	probably benign	Het
Crip2	T	C	12: 113,104,204 (GRCm39)	C5R	probably damaging	Het
Cyp3a11	T	A	5: 145,797,305 (GRCm39)	D358V	probably damaging	Het
Ebag9	T	C	15: 44,487,915 (GRCm39)	F21S	probably damaging	Het
Ercc1	A	T	7: 19,084,629 (GRCm39)	H70L	probably damaging	Het
Exoc3	G	A	13: 74,347,764 (GRCm39)	R69C	probably damaging	Het
Fgfr4	A	T	13: 55,308,969 (GRCm39)	R363S	possibly damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm7489	T	A	15: 53,749,434 (GRCm39)		probably benign	Het
Gpr152	G	A	19: 4,193,790 (GRCm39)	V444I	probably benign	Het
Gss	T	C	2: 155,406,785 (GRCm39)	E330G	probably benign	Het
Hbs1l	A	G	10: 21,234,287 (GRCm39)	D556G	possibly damaging	Het
Helz2	T	C	2: 180,871,913 (GRCm39)	T2619A	probably damaging	Het
Hk3	A	G	13: 55,160,409 (GRCm39)	F304L	probably damaging	Het
Itgad	A	T	7: 127,797,702 (GRCm39)	N906Y	probably damaging	Het
Jakmip2	T	C	18: 43,710,465 (GRCm39)	E246G	probably damaging	Het
L3mbtl4	A	T	17: 68,866,748 (GRCm39)	H329L	probably damaging	Het
Mau2	A	G	8: 70,485,827 (GRCm39)		probably null	Het
Myo16	T	C	8: 10,423,474 (GRCm39)	L270P	probably damaging	Het
Naa25	T	C	5: 121,568,755 (GRCm39)	S606P	probably damaging	Het
Nags	T	A	11: 102,037,447 (GRCm39)	C179*	probably null	Het
Naip2	A	G	13: 100,298,044 (GRCm39)	M664T	probably benign	Het
Ndufv3	T	C	17: 31,747,043 (GRCm39)	I311T	probably benign	Het
Nipsnap1	G	T	11: 4,841,468 (GRCm39)	E258*	probably null	Het
Nudc	A	G	4: 133,261,660 (GRCm39)	L208P	probably damaging	Het
Or1e32	T	C	11: 73,705,074 (GRCm39)	Y278C	probably benign	Het
Or51a39	A	T	7: 102,362,750 (GRCm39)	V290E	probably damaging	Het
Oscp1	A	G	4: 125,970,652 (GRCm39)	D137G	possibly damaging	Het
Pcdhb5	C	T	18: 37,455,524 (GRCm39)	P635S	probably benign	Het
Pcdhgb2	T	A	18: 37,825,103 (GRCm39)	I698N	probably damaging	Het
Pde4b	A	G	4: 102,454,967 (GRCm39)	Y399C	probably damaging	Het
Pdf	A	T	8: 107,774,812 (GRCm39)	V140E	probably damaging	Het
Pglyrp2	T	C	17: 32,634,823 (GRCm39)	N513S	probably benign	Het
Ranbp2	T	A	10: 58,312,878 (GRCm39)	D1199E	possibly damaging	Het
Rell2	G	T	18: 38,089,621 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,156,147 (GRCm39)	H745R	probably benign	Het
Rnf121	A	G	7: 101,672,592 (GRCm39)	C264R	probably damaging	Het
Rnf181	A	G	6: 72,338,499 (GRCm39)	F3S	probably damaging	Het
Rsrc1	T	A	3: 67,262,935 (GRCm39)	D296E	probably damaging	Het
Rubcn	A	T	16: 32,663,678 (GRCm39)	D319E	probably damaging	Het
Scaf8	T	C	17: 3,228,494 (GRCm39)	S431P	unknown	Het
Septin11	T	A	5: 93,310,112 (GRCm39)	M305K	possibly damaging	Het
Serpinb12	A	G	1: 106,884,132 (GRCm39)	K293E	probably benign	Het
Sh3bp1	T	A	15: 78,788,538 (GRCm39)	H229Q	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Specc1	T	A	11: 62,102,510 (GRCm39)	V952E	probably damaging	Het
Spint2	G	A	7: 28,956,211 (GRCm39)	T158I	probably benign	Het
St8sia4	A	T	1: 95,588,623 (GRCm39)	W71R	probably damaging	Het
Tex48	C	T	4: 63,530,151 (GRCm39)	V23I	possibly damaging	Het
Tmc5	G	A	7: 118,244,562 (GRCm39)	G480D	probably benign	Het
Tmem8b	T	A	4: 43,689,713 (GRCm39)	M330K	probably damaging	Het
Tnrc18	C	T	5: 142,717,095 (GRCm39)	R2453Q	probably damaging	Het
Trank1	A	T	9: 111,220,963 (GRCm39)	N2567Y	possibly damaging	Het
Trps1	T	C	15: 50,709,705 (GRCm39)	D211G	probably damaging	Het
Ttn	T	C	2: 76,555,503 (GRCm39)	R30501G	probably damaging	Het
Ttn	T	A	2: 76,573,247 (GRCm39)	Y25882F	probably damaging	Het
Unc79	T	A	12: 103,139,725 (GRCm39)	V2495E	probably damaging	Het
Uqcr10	T	A	11: 4,652,198 (GRCm39)	H58L	possibly damaging	Het
Usp7	A	T	16: 8,574,708 (GRCm39)	C58*	probably null	Het
Vmn1r36	A	T	6: 66,693,872 (GRCm39)	M1K	probably null	Het
Wdr7	T	A	18: 63,911,020 (GRCm39)	M804K	probably damaging	Het
Zfp131	A	C	13: 120,250,394 (GRCm39)		probably null	Het
Zfp507	A	G	7: 35,493,480 (GRCm39)	V521A	probably benign	Het

Other mutations in Gphn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GGCTCCTGACTCATTTCTGAAC -3'
(R):5'- ATGTGGTCCCATTGTTAAGAACC -3'

Sequencing Primer
(F):5'- TCCTCTCTAATACTAAAGTTTCCCTC -3'
(R):5'- GGTCCCATTGTTAAGAACCATAATC -3'

Posted On

2016-03-01