Mutagenetix > Incidental Mutation

Incidental Mutation 'R8558:Gopc'

660864

Institutional Source

Beutler Lab

Gene Symbol

Gopc

Ensembl Gene

ENSMUSG00000019861

Gene Name

golgi associated PDZ and coiled-coil motif containing

Synonyms

GOPC1, 2210402P09Rik

MMRRC Submission

068521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R8558 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52213120-52258220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52229580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 213 (Q213R)

Ref Sequence

ENSEMBL: ENSMUSP00000020008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020008] [ENSMUST00000105475] [ENSMUST00000217753] [ENSMUST00000217995]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020008
AA Change: Q213R

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

SMART Domains

Protein: ENSMUSP00000020008
Gene: ENSMUSG00000019861
AA Change: Q213R

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
coiled coil region	85	125	N/A	INTRINSIC
Blast:PDZ	192	232	5e-10	BLAST
PDZ	290	364	5.41e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105475
AA Change: Q221R

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

SMART Domains

Protein: ENSMUSP00000101115
Gene: ENSMUSG00000019861
AA Change: Q221R

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
coiled coil region	85	125	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
Blast:PDZ	200	240	5e-10	BLAST
PDZ	298	372	5.41e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000217753
AA Change: Q161R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217995

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele show male sterility with globozoospermia characterized by a complete lack of acrosomes due to failure of vesicle transport from the Golgi apparatus, a malformed sperm nucleus, and abnormal mitochondrial arrangement in the mitochondrial sheath of mutant spermatozoa. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,430,497 (GRCm39)	R51S	probably benign	Het
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Abcb5	T	C	12: 118,841,566 (GRCm39)	T960A	probably benign	Het
Abcc3	A	G	11: 94,242,623 (GRCm39)		probably null	Het
Adamtsl3	A	T	7: 82,077,600 (GRCm39)	D95V	possibly damaging	Het
Ash1l	T	A	3: 88,891,713 (GRCm39)	S1197R	probably damaging	Het
BC034090	T	A	1: 155,097,085 (GRCm39)	H671L	possibly damaging	Het
Bltp1	T	A	3: 37,102,750 (GRCm39)	M1443K		Het
Btnl9	T	C	11: 49,071,619 (GRCm39)	E68G	probably benign	Het
C1qtnf1	A	T	11: 118,339,149 (GRCm39)	Y273F	probably damaging	Het
C4b	A	T	17: 34,955,541 (GRCm39)	C714S	probably damaging	Het
Carmil1	G	A	13: 24,209,863 (GRCm39)	T1204I	probably benign	Het
Cdk12	T	C	11: 98,101,915 (GRCm39)	L591P	unknown	Het
Ces2f	T	A	8: 105,679,758 (GRCm39)	L417*	probably null	Het
Chl1	T	A	6: 103,685,390 (GRCm39)	S810R	probably benign	Het
Ckap2	A	G	8: 22,658,811 (GRCm39)	V644A	possibly damaging	Het
Ctdsp2	T	A	10: 126,829,746 (GRCm39)	V126E	probably damaging	Het
Dok6	G	T	18: 89,492,066 (GRCm39)	H170Q	probably damaging	Het
Dynlrb1	T	C	2: 155,084,728 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,083,795 (GRCm39)	L757S	probably damaging	Het
Epas1	A	C	17: 87,116,896 (GRCm39)	T189P	possibly damaging	Het
Epha10	C	A	4: 124,788,777 (GRCm39)	N283K		Het
Epha5	C	A	5: 84,206,975 (GRCm39)	G853C	probably damaging	Het
Gapvd1	A	T	2: 34,594,493 (GRCm39)	H831Q	probably damaging	Het
Gcnt3	T	A	9: 69,941,996 (GRCm39)	K191*	probably null	Het
Gm14226	T	A	2: 154,866,909 (GRCm39)	S289T	probably benign	Het
Gm4846	T	A	1: 166,314,674 (GRCm39)	D323V	probably damaging	Het
Golga3	G	T	5: 110,356,421 (GRCm39)	R1036L	possibly damaging	Het
Hrh1	G	A	6: 114,457,564 (GRCm39)	V282M	probably benign	Het
Ighv5-4	T	C	12: 113,561,078 (GRCm39)	Y114C	probably damaging	Het
Igkv10-94	A	T	6: 68,681,636 (GRCm39)	I68N	probably damaging	Het
Kcnj3	A	G	2: 55,336,875 (GRCm39)	D247G	possibly damaging	Het
Lcn6	C	A	2: 25,570,718 (GRCm39)	S102Y	probably damaging	Het
Matk	C	A	10: 81,096,765 (GRCm39)	H232N	probably benign	Het
Mcm9	C	T	10: 53,492,068 (GRCm39)	V366I	probably benign	Het
Nadk	A	G	4: 155,669,844 (GRCm39)	I176V	probably benign	Het
Nlrp12	A	G	7: 3,298,111 (GRCm39)	L20P	probably damaging	Het
Oga	T	C	19: 45,746,511 (GRCm39)	S763G	probably benign	Het
Or10ag56	A	T	2: 87,139,583 (GRCm39)	Q170L	probably benign	Het
Or1e21	G	A	11: 73,344,309 (GRCm39)	S243F	probably damaging	Het
Or4a72	A	G	2: 89,405,329 (GRCm39)	L247P	probably damaging	Het
Pcdhgb6	T	A	18: 37,877,237 (GRCm39)	D648E	probably damaging	Het
Pkd1l3	A	T	8: 110,362,012 (GRCm39)	N1018I	probably damaging	Het
Plch2	T	C	4: 155,083,391 (GRCm39)	K516E	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pnma2	C	T	14: 67,153,972 (GRCm39)	A132V	probably benign	Het
Prkn	T	C	17: 11,456,472 (GRCm39)	S99P	probably benign	Het
Prune2	A	G	19: 17,099,602 (GRCm39)	E1702G	probably damaging	Het
Qars1	T	A	9: 108,392,422 (GRCm39)	H756Q	probably benign	Het
Rab5a	A	G	17: 53,790,877 (GRCm39)		probably benign	Het
Rars2	A	G	4: 34,657,199 (GRCm39)	D515G	probably damaging	Het
Rpe65	T	A	3: 159,320,429 (GRCm39)	C329S	probably damaging	Het
Rps6ka2	G	A	17: 7,523,316 (GRCm39)	V231M	possibly damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Scrt1	G	T	15: 76,403,843 (GRCm39)	S49*	probably null	Het
Sec23b	C	G	2: 144,428,308 (GRCm39)	D640E	possibly damaging	Het
Setdb1	C	T	3: 95,261,979 (GRCm39)	V96M	possibly damaging	Het
Sik3	C	A	9: 46,066,746 (GRCm39)	A175E	probably damaging	Het
Smarcad1	A	G	6: 65,060,908 (GRCm39)	K463E	probably benign	Het
Sobp	A	C	10: 43,003,888 (GRCm39)	C154G	probably damaging	Het
Sox6	A	G	7: 115,141,033 (GRCm39)	S482P	probably benign	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Spink11	T	A	18: 44,324,748 (GRCm39)	R75*	probably null	Het
Sptb	T	C	12: 76,659,561 (GRCm39)	H1113R	probably benign	Het
Sypl2	A	T	3: 108,125,004 (GRCm39)	V119E	probably damaging	Het
Tbc1d24	T	C	17: 24,427,903 (GRCm39)	S20G	unknown	Het
Tektl1	T	C	10: 78,583,035 (GRCm39)	K450E	probably damaging	Het
Top2a	A	T	11: 98,912,549 (GRCm39)	V106D	probably damaging	Het
Tspyl4	G	C	10: 34,174,261 (GRCm39)	R251P	probably damaging	Het
Ttc21a	T	A	9: 119,787,835 (GRCm39)	L801Q	probably damaging	Het
Vgll3	A	G	16: 65,624,844 (GRCm39)	E64G	probably damaging	Het
Vmn2r30	A	G	7: 7,315,655 (GRCm39)	I726T	possibly damaging	Het
Vmn2r81	T	C	10: 79,106,467 (GRCm39)	S482P	possibly damaging	Het
Wasf1	T	G	10: 40,806,648 (GRCm39)	M97R	possibly damaging	Het
Wdr33	T	A	18: 31,962,947 (GRCm39)	M98K	probably benign	Het
Wdr73	G	A	7: 80,548,254 (GRCm39)	T95I	probably damaging	Het

Other mutations in Gopc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Gopc	APN	10	52,225,326 (GRCm39)	missense	probably damaging	0.98
IGL01146:Gopc	APN	10	52,234,963 (GRCm39)	missense	probably benign	0.31
Forgetful	UTSW	10	52,225,239 (GRCm39)	missense	probably damaging	1.00
Non_compos	UTSW	10	52,225,328 (GRCm39)	missense	probably damaging	1.00
R0281:Gopc	UTSW	10	52,226,774 (GRCm39)	missense	probably damaging	0.98
R0798:Gopc	UTSW	10	52,234,907 (GRCm39)	missense	probably damaging	0.97
R2238:Gopc	UTSW	10	52,229,499 (GRCm39)	missense	probably damaging	1.00
R2255:Gopc	UTSW	10	52,225,181 (GRCm39)	missense	probably damaging	0.99
R2507:Gopc	UTSW	10	52,229,422 (GRCm39)	critical splice donor site	probably null
R4153:Gopc	UTSW	10	52,225,239 (GRCm39)	missense	probably damaging	1.00
R5484:Gopc	UTSW	10	52,234,942 (GRCm39)	missense	probably damaging	1.00
R5936:Gopc	UTSW	10	52,222,295 (GRCm39)	missense	probably damaging	1.00
R7385:Gopc	UTSW	10	52,225,328 (GRCm39)	missense	probably damaging	1.00
R7806:Gopc	UTSW	10	52,229,525 (GRCm39)	missense	probably damaging	0.98
R7844:Gopc	UTSW	10	52,215,845 (GRCm39)	missense	possibly damaging	0.60
R8066:Gopc	UTSW	10	52,230,812 (GRCm39)	missense	probably benign	0.03
R8786:Gopc	UTSW	10	52,230,750 (GRCm39)	nonsense	probably null
R9736:Gopc	UTSW	10	52,229,558 (GRCm39)	missense	possibly damaging	0.85
X0019:Gopc	UTSW	10	52,215,837 (GRCm39)	missense	probably benign	0.43
Z1177:Gopc	UTSW	10	52,226,759 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAATTAAGCCAAACTCCCTTTTCC -3'
(R):5'- CCCCTAAAAGATATTTGTCCCTTTCAG -3'

Sequencing Primer
(F):5'- CCAGGAAGAGGCCGAGTG -3'
(R):5'- TCCCTTTCAGTTTAGTTGTACAAATC -3'

Posted On

2021-03-08