Mutagenetix > Incidental Mutation

Incidental Mutation 'R4667:Gphn'

352075

Institutional Source

Beutler Lab

Gene Symbol

Gphn

Ensembl Gene

ENSMUSG00000047454

Gene Name

gephyrin

Synonyms

5730552E08Rik, geph

MMRRC Submission

042012-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4667 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

78273153-78731546 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78501591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 119 (S119P)

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: S119P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054064
Gene: ENSMUSG00000047454
AA Change: S119P

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: S119P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000106018
Gene: ENSMUSG00000047454
AA Change: S119P

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad8	A	G	9: 26,901,923 (GRCm39)	L147P	probably damaging	Het
Adgra3	T	A	5: 50,136,298 (GRCm39)	Y729F	possibly damaging	Het
Ago2	A	G	15: 73,018,265 (GRCm39)	Y58H	probably damaging	Het
Akap13	A	G	7: 75,378,842 (GRCm39)	T2128A	probably damaging	Het
Ankhd1	C	A	18: 36,781,074 (GRCm39)	P2042Q	possibly damaging	Het
Arhgef15	T	C	11: 68,845,387 (GRCm39)	K155R	probably benign	Het
Atp10b	T	C	11: 43,138,345 (GRCm39)	F1209L	probably damaging	Het
B130006D01Rik	A	T	11: 95,617,335 (GRCm39)		probably benign	Het
Bmpr2	T	C	1: 59,906,875 (GRCm39)	L656S	probably damaging	Het
Bnip5	G	T	17: 29,127,287 (GRCm39)	Q241K	possibly damaging	Het
Btbd17	A	G	11: 114,684,683 (GRCm39)	F119L	possibly damaging	Het
Ccdc191	G	T	16: 43,751,646 (GRCm39)	K267N	probably damaging	Het
Cd200l1	A	G	16: 45,264,526 (GRCm39)	S11P	probably benign	Het
Ceacam20	T	C	7: 19,719,952 (GRCm39)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,726,339 (GRCm39)	I47V	probably benign	Het
Cemip2	G	A	19: 21,774,715 (GRCm39)	R119H	probably benign	Het
Cemip2	C	T	19: 21,822,145 (GRCm39)	A1180V	probably benign	Het
Chd9	T	C	8: 91,760,428 (GRCm39)	S2058P	possibly damaging	Het
Clcn6	T	C	4: 148,108,624 (GRCm39)	E135G	possibly damaging	Het
Cntn1	T	A	15: 92,192,960 (GRCm39)	N687K	probably damaging	Het
Col1a2	A	T	6: 4,512,412 (GRCm39)	M99L	unknown	Het
Cpeb2	T	C	5: 43,391,235 (GRCm39)		probably benign	Het
Csn1s2b	A	G	5: 87,970,170 (GRCm39)	T134A	possibly damaging	Het
Cst13	A	T	2: 148,665,001 (GRCm39)		probably benign	Het
Cyp2c66	T	A	19: 39,165,100 (GRCm39)	D360E	probably damaging	Het
Dhx8	A	G	11: 101,628,987 (GRCm39)	S179G	unknown	Het
Dip2b	A	G	15: 100,049,241 (GRCm39)	I212V	probably benign	Het
Dnah9	G	A	11: 66,046,357 (GRCm39)	H64Y	probably benign	Het
Dnal1	T	C	12: 84,183,474 (GRCm39)		probably benign	Het
Dse	T	G	10: 34,029,008 (GRCm39)	Y694S	probably damaging	Het
Dync2h1	T	C	9: 7,051,411 (GRCm39)	I3175V	probably benign	Het
Elf5	A	G	2: 103,279,405 (GRCm39)	N209D	probably damaging	Het
Elovl1	A	G	4: 118,287,984 (GRCm39)	Y40C	probably damaging	Het
Erp27	T	C	6: 136,885,150 (GRCm39)	E216G	possibly damaging	Het
F5	G	A	1: 164,001,755 (GRCm39)	V153I	probably benign	Het
Fam186a	G	A	15: 99,842,413 (GRCm39)	T1277I	possibly damaging	Het
Fam90a1a	A	T	8: 22,453,362 (GRCm39)	H239L	possibly damaging	Het
Fchsd2	G	T	7: 100,899,656 (GRCm39)	R334L	probably damaging	Het
Fermt3	T	C	19: 6,980,288 (GRCm39)	Y369C	probably damaging	Het
Fhod3	C	T	18: 25,199,395 (GRCm39)	P689S	probably benign	Het
Fnbp1l	G	T	3: 122,350,216 (GRCm39)	Q332K	probably benign	Het
Frem3	T	C	8: 81,390,049 (GRCm39)	S1767P	probably damaging	Het
Ggt5	T	C	10: 75,438,865 (GRCm39)	L121P	probably damaging	Het
Herc2	A	G	7: 55,781,001 (GRCm39)	D1222G	probably damaging	Het
Hmx3	T	C	7: 131,146,111 (GRCm39)	I273T	possibly damaging	Het
Hnrnpu	A	G	1: 178,159,746 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,266,956 (GRCm39)	T1987I	possibly damaging	Het
Ighv1-22	T	A	12: 114,710,071 (GRCm39)	Q58L	probably damaging	Het
Ighv14-3	T	A	12: 114,023,875 (GRCm39)	I7F	probably benign	Het
Kcns3	C	A	12: 11,141,784 (GRCm39)	R305L	probably damaging	Het
Kcnu1	C	T	8: 26,400,949 (GRCm39)	A699V	possibly damaging	Het
Kif22	A	C	7: 126,632,500 (GRCm39)	L270W	probably damaging	Het
Lrp2	G	T	2: 69,319,642 (GRCm39)	H1960Q	probably benign	Het
Marchf7	C	T	2: 60,071,394 (GRCm39)	Q94*	probably null	Het
Mcoln3	A	T	3: 145,836,959 (GRCm39)	I264F	probably benign	Het
Mdn1	A	C	4: 32,679,572 (GRCm39)	T706P	probably damaging	Het
Mfsd2b	A	G	12: 4,917,636 (GRCm39)	C137R	probably benign	Het
Mmp25	A	G	17: 23,863,581 (GRCm39)	V83A	probably benign	Het
Mocos	T	C	18: 24,799,491 (GRCm39)	Y242H	probably benign	Het
Msh6	T	C	17: 88,292,234 (GRCm39)	S330P	possibly damaging	Het
Mtus2	T	C	5: 148,235,070 (GRCm39)	S1156P	possibly damaging	Het
Muc5b	G	A	7: 141,396,116 (GRCm39)	R124H	unknown	Het
Mybbp1a	G	A	11: 72,338,797 (GRCm39)	E775K	possibly damaging	Het
Myo10	A	G	15: 25,793,239 (GRCm39)	E1272G	possibly damaging	Het
Nars1	A	G	18: 64,638,302 (GRCm39)	S254P	possibly damaging	Het
Ncapd2	A	G	6: 125,161,481 (GRCm39)	I211T	possibly damaging	Het
Ncoa7	A	T	10: 30,566,786 (GRCm39)	W582R	probably damaging	Het
Npr3	T	A	15: 11,905,553 (GRCm39)	D58V	possibly damaging	Het
Nr3c1	G	T	18: 39,561,780 (GRCm39)	T430K	probably benign	Het
Odf2l	A	G	3: 144,833,801 (GRCm39)	T111A	probably benign	Het
Ogdh	G	T	11: 6,290,600 (GRCm39)	C406F	probably benign	Het
Olfml2a	T	G	2: 38,839,022 (GRCm39)	S190A	probably damaging	Het
Optn	T	C	2: 5,037,950 (GRCm39)	K415E	probably benign	Het
Or10n1	T	C	9: 39,525,034 (GRCm39)	M57T	probably damaging	Het
Or52a20	A	G	7: 103,365,845 (GRCm39)	T15A	probably benign	Het
Or8b12i	T	C	9: 20,082,394 (GRCm39)	I158V	probably benign	Het
Or8g52	G	T	9: 39,631,005 (GRCm39)	V161F	probably benign	Het
Pakap	A	T	4: 57,855,655 (GRCm39)	D328V	possibly damaging	Het
Perm1	C	A	4: 156,304,663 (GRCm39)	S803*	probably null	Het
Pex14	T	C	4: 149,068,542 (GRCm39)	T84A	probably benign	Het
Pih1d2	T	A	9: 50,532,252 (GRCm39)	Y103*	probably null	Het
Pikfyve	T	A	1: 65,289,432 (GRCm39)	C1235S	probably damaging	Het
Polr1a	A	G	6: 71,894,805 (GRCm39)	N171S	probably benign	Het
Prrx1	A	G	1: 163,081,616 (GRCm39)	S201P	probably benign	Het
Psme2b	A	T	11: 48,836,493 (GRCm39)	N151K	probably benign	Het
Serpinb5	A	T	1: 106,800,025 (GRCm39)	T72S	probably benign	Het
Sgsm1	A	G	5: 113,407,913 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,180,209 (GRCm39)	R1063G	possibly damaging	Het
Slc19a3	T	C	1: 83,000,520 (GRCm39)	T166A	probably benign	Het
Slc5a4b	T	C	10: 75,910,879 (GRCm39)	Y319C	possibly damaging	Het
Stard3nl	T	A	13: 19,560,689 (GRCm39)	N29Y	probably damaging	Het
Sult6b2	G	T	6: 142,747,421 (GRCm39)	C109*	probably null	Het
Tcf25	A	G	8: 124,123,764 (GRCm39)	E467G	possibly damaging	Het
Tmem177	A	T	1: 119,837,950 (GRCm39)	V243D	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tspan11	T	A	6: 127,920,678 (GRCm39)	C208*	probably null	Het
Ttc1	A	G	11: 43,636,144 (GRCm39)	V33A	probably benign	Het
Tut4	G	A	4: 108,352,356 (GRCm39)	E357K	probably damaging	Het
Uck1	T	A	2: 32,146,046 (GRCm39)	H283L	probably damaging	Het
Utrn	A	C	10: 12,573,797 (GRCm39)	V1091G	probably benign	Het
Vmn1r11	A	T	6: 57,114,483 (GRCm39)	H49L	probably damaging	Het
Vmn1r160	G	T	7: 22,571,478 (GRCm39)	S277I	probably benign	Het
Vmn1r18	A	T	6: 57,367,069 (GRCm39)	S162T	probably benign	Het
Vps37b	A	G	5: 124,148,795 (GRCm39)	L80P	probably damaging	Het
Wfdc3	T	C	2: 164,585,006 (GRCm39)	M1V	probably null	Het
Wrn	A	T	8: 33,814,366 (GRCm39)	N116K	probably benign	Het
Wscd2	G	T	5: 113,715,333 (GRCm39)	G391V	probably damaging	Het
Zfp286	A	G	11: 62,671,428 (GRCm39)	V215A	probably benign	Het
Zfp568	A	G	7: 29,722,702 (GRCm39)	H549R	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
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
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'- CAGTGATCCTGAAACTTTGAGCTG -3'
(R):5'- CTTGAGACATAGCTACAGAGACC -3'

Sequencing Primer
(F):5'- TTGAGCTGACAATAAAAATCCAAATG -3'
(R):5'- CAGAGACCAAGATTCTTAACTCTGG -3'

Posted On

2015-10-08