Mutagenetix > Incidental Mutation

Incidental Mutation 'R8832:Gphn'

690338

Institutional Source

Beutler Lab

Gene Symbol

Gphn

Ensembl Gene

ENSMUSG00000047454

Gene Name

gephyrin

Synonyms

5730552E08Rik, geph

MMRRC Submission

068660-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78273153-78731546 bp(+) (GRCm39)

Type of Mutation

synonymous

DNA Base Change (assembly)

A to T at 78459174 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

silent
Transcript: ENSMUST00000052472

SMART Domains

Protein: ENSMUSP00000054064
Gene: ENSMUSG00000047454

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

silent
Transcript: ENSMUST00000110388

SMART Domains

Protein: ENSMUSP00000106018
Gene: ENSMUSG00000047454

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (81/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,100,341 (GRCm39)	E238V	probably damaging	Het
Adh6b	T	C	3: 138,055,463 (GRCm39)	V71A	probably benign	Het
Agmat	G	A	4: 141,474,320 (GRCm39)	R67H	probably benign	Het
AI182371	T	C	2: 34,985,909 (GRCm39)	D49G	unknown	Het
Ak7	A	G	12: 105,708,598 (GRCm39)	N351S	possibly damaging	Het
Aldh3b1	G	T	19: 3,964,025 (GRCm39)	R426S	probably damaging	Het
Aldh4a1	A	G	4: 139,371,466 (GRCm39)	D460G	probably benign	Het
Aox4	A	T	1: 58,294,649 (GRCm39)	M953L	probably benign	Het
Arhgap32	C	T	9: 32,172,115 (GRCm39)	P1632S	possibly damaging	Het
Armh1	A	G	4: 117,094,867 (GRCm39)	F58L	probably damaging	Het
Baz1b	C	T	5: 135,246,230 (GRCm39)	R560W	possibly damaging	Het
Bbs10	C	T	10: 111,136,266 (GRCm39)	Q460*	probably null	Het
BC034090	A	C	1: 155,102,034 (GRCm39)	S77A	probably damaging	Het
Bltp2	A	G	11: 78,158,064 (GRCm39)	K409E	probably benign	Het
Brca2	A	G	5: 150,465,611 (GRCm39)	K1792E	possibly damaging	Het
Cadps2	A	T	6: 23,587,536 (GRCm39)	L318Q	possibly damaging	Het
Catsperg2	A	G	7: 29,397,269 (GRCm39)	V1078A	probably benign	Het
Ccno	A	G	13: 113,126,239 (GRCm39)	N236S	probably benign	Het
Chct1	A	G	11: 85,062,037 (GRCm39)	D12G	probably damaging	Het
Cobll1	A	T	2: 64,929,602 (GRCm39)	S575T	probably damaging	Het
Col6a4	A	G	9: 105,949,353 (GRCm39)	Y761H	probably benign	Het
Cyp2j9	G	T	4: 96,474,121 (GRCm39)	H106Q	probably benign	Het
Dennd2c	T	A	3: 103,059,720 (GRCm39)		probably null	Het
Drd5	G	A	5: 38,477,078 (GRCm39)	V24M	probably benign	Het
Dthd1	T	C	5: 62,971,608 (GRCm39)	S144P	probably benign	Het
Fcna	C	A	2: 25,516,145 (GRCm39)	R124L	possibly damaging	Het
Fmnl2	A	G	2: 52,944,584 (GRCm39)	S188G		Het
Ggt1	A	T	10: 75,410,173 (GRCm39)	H35L	possibly damaging	Het
Hic1	G	A	11: 75,057,728 (GRCm39)	A387V	possibly damaging	Het
Hycc2	A	T	1: 58,587,832 (GRCm39)	I127N	possibly damaging	Het
Igf1r	T	A	7: 67,875,769 (GRCm39)	F1244I	probably damaging	Het
Kcnk7	T	C	19: 5,754,736 (GRCm39)	V78A	probably damaging	Het
Kit	A	G	5: 75,799,791 (GRCm39)	N508D	probably benign	Het
Klk1b22	A	T	7: 43,764,277 (GRCm39)	E68D	probably benign	Het
Klra4	C	T	6: 130,021,019 (GRCm39)	D259N	probably benign	Het
Krtap2-4	A	T	11: 99,505,246 (GRCm39)	C122S	unknown	Het
Map3k1	T	G	13: 111,889,015 (GRCm39)	H1314P	possibly damaging	Het
Mast2	C	T	4: 116,168,875 (GRCm39)		probably null	Het
Mfsd2a	A	G	4: 122,843,102 (GRCm39)	V393A	probably benign	Het
Myh7b	T	A	2: 155,475,182 (GRCm39)	V1858E	probably benign	Het
Myo1c	G	A	11: 75,561,072 (GRCm39)	V793I	probably benign	Het
Myt1l	T	A	12: 29,970,351 (GRCm39)	N1145K	unknown	Het
Nckap1l	T	A	15: 103,387,242 (GRCm39)	S706T	probably benign	Het
Nos2	A	G	11: 78,846,290 (GRCm39)		probably null	Het
Odf2l	C	T	3: 144,833,820 (GRCm39)	S160L	probably benign	Het
Or10ag54	T	A	2: 87,099,743 (GRCm39)	M206K	probably benign	Het
Or2av9	T	C	11: 58,381,063 (GRCm39)	I173V	possibly damaging	Het
Or4p18	A	G	2: 88,233,137 (GRCm39)	I47T	probably damaging	Het
Or56b34	T	C	7: 104,937,435 (GRCm39)	L45P	possibly damaging	Het
Or8g53	T	C	9: 39,683,886 (GRCm39)	D70G	probably damaging	Het
Pclo	T	C	5: 14,838,464 (GRCm39)	W1424R		Het
Pde8a	A	G	7: 80,956,498 (GRCm39)	N299S	probably benign	Het
Pi4kb	C	T	3: 94,900,344 (GRCm39)	T326M	probably damaging	Het
Pip4k2c	A	T	10: 127,037,037 (GRCm39)	H177Q	probably damaging	Het
Pld1	T	A	3: 28,177,846 (GRCm39)	W686R		Het
Ppp1r3b	A	T	8: 35,851,419 (GRCm39)	D86V	probably damaging	Het
Ppp1r3g	C	T	13: 36,153,143 (GRCm39)	R188*	probably null	Het
Pramel48	G	T	5: 95,630,939 (GRCm39)	C272F	possibly damaging	Het
Ptbp1	A	G	10: 79,699,023 (GRCm39)	E527G	probably damaging	Het
Rasef	T	C	4: 73,698,558 (GRCm39)		probably benign	Het
Rce1	A	T	19: 4,675,532 (GRCm39)	C34S	unknown	Het
Rnf144a	T	C	12: 26,370,948 (GRCm39)		probably benign	Het
Rpl7	C	T	1: 16,173,485 (GRCm39)	R88H	possibly damaging	Het
Rubcnl	A	T	14: 75,269,359 (GRCm39)	T6S		Het
Samd9l	A	T	6: 3,374,990 (GRCm39)	V757D	probably damaging	Het
Sec22c	A	G	9: 121,514,638 (GRCm39)	V221A	probably benign	Het
Slc16a6	A	G	11: 109,345,932 (GRCm39)	Y444H	probably benign	Het
Slc6a15	A	T	10: 103,225,179 (GRCm39)	Y89F	probably damaging	Het
Smg1	A	G	7: 117,739,006 (GRCm39)	V3466A	probably benign	Het
Sobp	G	A	10: 43,036,824 (GRCm39)	T38I	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srsf5	T	A	12: 80,996,278 (GRCm39)	F151I	probably damaging	Het
Taf2	A	C	15: 54,928,001 (GRCm39)	L134R	possibly damaging	Het
Tbc1d1	A	G	5: 64,442,020 (GRCm39)		probably benign	Het
Thap1	C	T	8: 26,648,261 (GRCm39)		probably benign	Het
Tmc5	A	T	7: 118,222,332 (GRCm39)	M11L	probably benign	Het
Tnfaip8	ACACACTCTCTCTCTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Tomm7	T	C	5: 24,049,047 (GRCm39)	K9E	possibly damaging	Het
Trem3	T	C	17: 48,556,865 (GRCm39)	V112A	probably benign	Het
Vmn1r178	G	A	7: 23,593,264 (GRCm39)	C104Y	probably damaging	Het
Zdhhc20	A	T	14: 58,080,721 (GRCm39)	S263T	possibly damaging	Het
Zdhhc20	A	G	14: 58,103,089 (GRCm39)	S87P	probably benign	Het
Zfp423	C	A	8: 88,507,827 (GRCm39)	C839F	probably damaging	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
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
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
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'- ATCCGCATTTTCTTTACCAACAAG -3'
(R):5'- TCCTGAAGTTTAGTTGTCAACAATC -3'

Sequencing Primer
(F):5'- GCTGTAGTCTATGAAATTATGG -3'
(R):5'- TCATAGCCATAAGGAATAATTTTGCC -3'

Posted On

2021-12-09