Mutagenetix > Incidental Mutation

Incidental Mutation 'R5580:Gphn'

438426

Institutional Source

Beutler Lab

Gene Symbol

Gphn

Ensembl Gene

ENSMUSG00000047454

Gene Name

gephyrin

Synonyms

5730552E08Rik, geph

MMRRC Submission

043134-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5580 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78273153-78731546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78538818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 155 (F155I)

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: F155I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054064
Gene: ENSMUSG00000047454
AA Change: F155I

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

possibly damaging
Transcript: ENSMUST00000110388
AA Change: F155I

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106018
Gene: ENSMUSG00000047454
AA Change: F155I

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	A	G	7: 43,900,664 (GRCm39)	T73A	possibly damaging	Het
A1bg	A	T	15: 60,790,881 (GRCm39)	V365E	probably benign	Het
Abcg5	A	C	17: 84,967,582 (GRCm39)	V406G	probably damaging	Het
Adamts12	A	G	15: 11,152,086 (GRCm39)	Y192C	probably benign	Het
Add3	C	T	19: 53,233,642 (GRCm39)	S649L	probably damaging	Het
Adgrg6	A	T	10: 14,286,228 (GRCm39)	C1129*	probably null	Het
Arsb	T	A	13: 93,944,053 (GRCm39)	V248D	probably damaging	Het
AW554918	A	T	18: 25,472,922 (GRCm39)	N39I	probably damaging	Het
Cacna1b	A	T	2: 24,540,566 (GRCm39)	I1383N	probably damaging	Het
Caprin2	A	T	6: 148,760,232 (GRCm39)	V625D	possibly damaging	Het
Cd9	A	G	6: 125,441,420 (GRCm39)	L67P	probably damaging	Het
Cdh5	T	A	8: 104,852,126 (GRCm39)	Y80*	probably null	Het
Csf2ra	A	G	19: 61,214,655 (GRCm39)	L223P	probably damaging	Het
Cyp2c67	T	C	19: 39,604,094 (GRCm39)	K421E	probably damaging	Het
Dzank1	T	C	2: 144,348,098 (GRCm39)	R223G	probably damaging	Het
Emilin2	A	G	17: 71,582,225 (GRCm39)	V167A	probably benign	Het
Eps8l3	A	G	3: 107,788,919 (GRCm39)	T81A	probably damaging	Het
Esrra	T	C	19: 6,897,755 (GRCm39)	M1V	probably null	Het
Evpl	C	A	11: 116,125,058 (GRCm39)	A135S	probably benign	Het
Fam193a	A	G	5: 34,578,132 (GRCm39)	I209V	probably benign	Het
Fbxl19	C	A	7: 127,350,168 (GRCm39)	C253*	probably null	Het
Fer1l5	T	A	1: 36,424,539 (GRCm39)	Y305*	probably null	Het
Fzd2	A	C	11: 102,496,665 (GRCm39)	I370L	probably damaging	Het
Gnl3	T	C	14: 30,737,242 (GRCm39)	K212R	probably benign	Het
Golm1	A	G	13: 59,790,179 (GRCm39)	L207P	probably benign	Het
Grhl1	G	A	12: 24,659,739 (GRCm39)	G500S	probably benign	Het
Gucd1	C	A	10: 75,346,968 (GRCm39)	G55V	possibly damaging	Het
Haus6	A	T	4: 86,517,503 (GRCm39)	I287K	possibly damaging	Het
Hmcn1	G	A	1: 150,453,290 (GRCm39)	P5342S	probably benign	Het
Hspa12a	A	G	19: 58,788,092 (GRCm39)	S577P	probably benign	Het
Ido2	T	A	8: 25,040,882 (GRCm39)	I113F	possibly damaging	Het
Ifrd2	C	T	9: 107,469,511 (GRCm39)	P396S	probably damaging	Het
Igkv4-86	T	A	6: 68,887,990 (GRCm39)		probably benign	Het
Ipo11	A	G	13: 107,037,255 (GRCm39)	V196A	probably benign	Het
Itih2	T	C	2: 10,128,287 (GRCm39)	E138G	probably damaging	Het
Kidins220	T	G	12: 25,097,896 (GRCm39)	C1179G	probably benign	Het
Kif20b	T	A	19: 34,927,128 (GRCm39)		probably null	Het
Klk1	T	A	7: 43,878,238 (GRCm39)	Y63N	probably benign	Het
L3mbtl3	T	G	10: 26,179,604 (GRCm39)	D517A	unknown	Het
Lars1	G	T	18: 42,347,916 (GRCm39)	P969H	probably damaging	Het
Lrp1	C	T	10: 127,424,389 (GRCm39)	V766I	probably benign	Het
Lrrc8c	A	G	5: 105,755,553 (GRCm39)	I443V	probably benign	Het
Lsg1	T	C	16: 30,387,985 (GRCm39)	M439V	probably null	Het
Magi2	T	A	5: 20,420,422 (GRCm39)	M286K	probably benign	Het
Med11	T	C	11: 70,342,891 (GRCm39)		probably null	Het
Med13l	A	G	5: 118,889,695 (GRCm39)	K1819E	possibly damaging	Het
Ms4a14	T	A	19: 11,280,590 (GRCm39)	Q656L	probably benign	Het
Muc5b	A	G	7: 141,415,084 (GRCm39)	T2677A	possibly damaging	Het
Myo7a	A	T	7: 97,722,367 (GRCm39)	L1186H	probably damaging	Het
Naca	C	A	10: 127,876,462 (GRCm39)		probably benign	Het
Nbeal1	T	C	1: 60,281,761 (GRCm39)	I828T	probably benign	Het
Ncor1	A	T	11: 62,280,604 (GRCm39)	C75*	probably null	Het
Nepn	A	C	10: 52,280,398 (GRCm39)	S497R	probably damaging	Het
Nf2	A	G	11: 4,753,689 (GRCm39)	F222L	probably damaging	Het
Nlrp9b	A	C	7: 19,757,089 (GRCm39)	T109P	probably damaging	Het
Nr1h4	A	T	10: 89,352,302 (GRCm39)	F22I	probably benign	Het
Ogg1	A	G	6: 113,306,337 (GRCm39)	Y178C	probably damaging	Het
Or1e22	G	T	11: 73,377,036 (GRCm39)	P205T	probably benign	Het
Or4b12	C	A	2: 90,096,694 (GRCm39)	V27L	probably benign	Het
Or5b119	T	A	19: 13,456,791 (GRCm39)	Y257F	probably damaging	Het
Or5b21	G	A	19: 12,839,168 (GRCm39)	V10M	possibly damaging	Het
Or5d14	A	T	2: 87,880,668 (GRCm39)	M100K	possibly damaging	Het
Osr1	G	A	12: 9,629,325 (GRCm39)	R66Q	probably damaging	Het
Pi4ka	A	G	16: 17,098,951 (GRCm39)	S1978P	probably damaging	Het
Pik3c2g	A	T	6: 139,603,531 (GRCm39)	Q239L	probably damaging	Het
Pin1rt1	A	G	2: 104,544,670 (GRCm39)	I154T	probably damaging	Het
Pkdcc	A	G	17: 83,527,511 (GRCm39)	T230A	probably damaging	Het
Por	A	T	5: 135,762,675 (GRCm39)	I430F	probably damaging	Het
Prb1c	T	C	6: 132,338,432 (GRCm39)	N262S	unknown	Het
Prkcsh	T	A	9: 21,922,551 (GRCm39)		probably null	Het
Pros1	A	G	16: 62,746,689 (GRCm39)		probably null	Het
Pus10	T	A	11: 23,622,556 (GRCm39)	L59I	probably benign	Het
Pxmp2	A	G	5: 110,431,542 (GRCm39)	V67A	possibly damaging	Het
Rab3gap1	C	A	1: 127,858,727 (GRCm39)	A612E	probably benign	Het
Rpap2	A	G	5: 107,768,011 (GRCm39)	E206G	probably benign	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Ryr3	C	T	2: 112,672,293 (GRCm39)	G1393R	probably damaging	Het
Scara5	T	C	14: 65,968,528 (GRCm39)	M267T	probably benign	Het
Sema5a	A	T	15: 32,575,031 (GRCm39)	I380F	probably benign	Het
Slc36a3	A	G	11: 55,026,279 (GRCm39)	S180P	probably benign	Het
Slc44a5	A	G	3: 153,966,922 (GRCm39)	K536R	probably benign	Het
Smg1	T	C	7: 117,748,125 (GRCm39)		probably benign	Het
Spata31d1e	A	T	13: 59,890,070 (GRCm39)	D583E	probably benign	Het
Strc	T	C	2: 121,205,493 (GRCm39)	K879R	probably damaging	Het
Swt1	T	C	1: 151,260,206 (GRCm39)	E731G	probably benign	Het
Syngap1	G	A	17: 27,181,305 (GRCm39)	A9T	probably damaging	Het
Tex15	C	T	8: 34,062,457 (GRCm39)	T903I	probably damaging	Het
Tg	A	G	15: 66,557,149 (GRCm39)	I937V	possibly damaging	Het
Tm9sf4	T	C	2: 153,024,350 (GRCm39)	Y58H	probably damaging	Het
Tsen2	A	T	6: 115,554,941 (GRCm39)	D458V	probably damaging	Het
Ttn	T	A	2: 76,748,146 (GRCm39)	D4301V	probably benign	Het
Txk	C	A	5: 72,864,932 (GRCm39)	L314F	probably damaging	Het
Ube3b	A	G	5: 114,553,384 (GRCm39)	T919A	probably benign	Het
Ubn2	A	G	6: 38,460,187 (GRCm39)	M641V	probably damaging	Het
Usp4	C	T	9: 108,243,058 (GRCm39)	T242I	probably benign	Het
Usp53	A	G	3: 122,727,883 (GRCm39)	S900P	probably benign	Het
Vmn1r225	T	C	17: 20,723,101 (GRCm39)	Y181H	probably damaging	Het
Vmn1r83	T	A	7: 12,055,800 (GRCm39)	I86L	probably benign	Het
Vmn2r65	T	C	7: 84,596,802 (GRCm39)	I84M	probably damaging	Het
Vstm2b	A	G	7: 40,552,050 (GRCm39)	H126R	probably damaging	Het
Zfp524	A	T	7: 5,021,416 (GRCm39)	I315F	probably benign	Het
Zfp975	A	T	7: 42,314,513 (GRCm39)	L20*	probably null	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
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'- AGGCACCAGAACCTTTAACATATG -3'
(R):5'- TCTGTTGAAGCTACACCACTG -3'

Sequencing Primer
(F):5'- GGTGGCGACAAATGCCTTTAATCC -3'
(R):5'- GTTGAAGCTACACCACTGTCTTTC -3'

Posted On

2016-10-26