Mutagenetix > Incidental Mutation

Incidental Mutation 'R8154:Stpg2'

633186

Institutional Source

Beutler Lab

Gene Symbol

Stpg2

Ensembl Gene

ENSMUSG00000047940

Gene Name

sperm tail PG rich repeat containing 2

Synonyms

LOC381476, B930007M17Rik

MMRRC Submission

067580-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R8154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138910953-139415185 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139014938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 368 (V368M)

Ref Sequence

ENSEMBL: ENSMUSP00000051539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062306] [ENSMUST00000106239]

AlphaFold

Q8C8J0

Predicted Effect

probably damaging
Transcript: ENSMUST00000062306
AA Change: V368M

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

SMART Domains

Protein: ENSMUSP00000051539
Gene: ENSMUSG00000047940
AA Change: V368M

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	20	50	1.1e1	PFAM
Pfam:SHIPPO-rpt	62	92	1.3e1	PFAM
Pfam:SHIPPO-rpt	97	127	9.1e1	PFAM
Pfam:SHIPPO-rpt	162	193	1.3e2	PFAM
Pfam:SHIPPO-rpt	200	235	1.7e0	PFAM
Pfam:SHIPPO-rpt	249	285	1.2e-2	PFAM
Pfam:SHIPPO-rpt	292	315	3.2e1	PFAM
Pfam:SHIPPO-rpt	334	371	2.1e0	PFAM
Pfam:SHIPPO-rpt	421	462	3.8e0	PFAM
Pfam:SHIPPO-rpt	471	497	2.9e1	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106239
AA Change: V368M

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

SMART Domains

Protein: ENSMUSP00000101846
Gene: ENSMUSG00000047940
AA Change: V368M

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	200	220	6.9e-1	PFAM
Pfam:SHIPPO-rpt	249	285	8.8e-2	PFAM
Pfam:SHIPPO-rpt	334	371	5.4e-2	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	T	3: 122,718,142 (GRCm39)	G12C	probably damaging	Het
Adam34l	A	T	8: 44,078,424 (GRCm39)	I600N	probably damaging	Het
Adamts10	C	A	17: 33,756,902 (GRCm39)	P357T	probably damaging	Het
Bmyc	T	A	2: 25,597,346 (GRCm39)	S137T	probably damaging	Het
Bpifa1	T	A	2: 153,987,654 (GRCm39)	M168K	possibly damaging	Het
Card11	T	G	5: 140,886,732 (GRCm39)	K339T	probably damaging	Het
Ccdc149	C	T	5: 52,542,446 (GRCm39)		probably null	Het
Ccr9	T	C	9: 123,608,896 (GRCm39)	S193P	probably benign	Het
Cracd	A	T	5: 76,989,644 (GRCm39)	E62D	unknown	Het
Csf2rb	A	G	15: 78,224,642 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,281,434 (GRCm39)	E576G	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,493 (GRCm39)	N238S	probably benign	Het
Dnaja3	C	A	16: 4,517,740 (GRCm39)	T375K	possibly damaging	Het
Espnl	C	T	1: 91,252,921 (GRCm39)	H217Y	possibly damaging	Het
Exoc4	T	C	6: 33,887,473 (GRCm39)	S754P	probably benign	Het
Fcgbp	A	G	7: 27,784,507 (GRCm39)	D189G	probably benign	Het
Gle1	T	A	2: 29,828,619 (GRCm39)		probably null	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gtf2i	A	T	5: 134,280,721 (GRCm39)	F583L	probably benign	Het
Heatr9	T	A	11: 83,402,703 (GRCm39)	Y532F	possibly damaging	Het
Hic2	C	T	16: 17,076,344 (GRCm39)	S391L	probably benign	Het
Hipk1	A	G	3: 103,656,652 (GRCm39)	V905A	probably damaging	Het
Inpp5f	T	G	7: 128,265,991 (GRCm39)	W211G	possibly damaging	Het
Katnip	T	C	7: 125,412,802 (GRCm39)	L382P	probably damaging	Het
Kcnma1	T	A	14: 23,361,822 (GRCm39)	Y1123F	possibly damaging	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,387,293 (GRCm39)	R202*	probably null	Het
Lmod3	T	A	6: 97,224,941 (GRCm39)	K293N	probably damaging	Het
Luzp1	T	C	4: 136,269,195 (GRCm39)	S473P	possibly damaging	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map4k4	T	G	1: 40,060,302 (GRCm39)	Y1030*	probably null	Het
Miga1	A	G	3: 152,026,337 (GRCm39)		probably benign	Het
Mrpl18	T	C	17: 13,130,608 (GRCm39)	E167G	probably damaging	Het
Myh4	A	G	11: 67,144,200 (GRCm39)	E1190G	probably damaging	Het
Ngef	C	T	1: 87,468,482 (GRCm39)	M92I	probably benign	Het
Nlrc4	T	A	17: 74,752,904 (GRCm39)	Y493F	probably damaging	Het
Or52s19	A	C	7: 103,007,763 (GRCm39)	C213G	probably benign	Het
Otud7a	C	A	7: 63,407,612 (GRCm39)	F638L	probably benign	Het
Padi2	T	A	4: 140,651,620 (GRCm39)		probably null	Het
Pcdhgb1	A	G	18: 37,815,596 (GRCm39)	I696V	probably damaging	Het
Pikfyve	T	C	1: 65,304,948 (GRCm39)	F1745S	probably damaging	Het
Prg2	G	A	2: 84,813,600 (GRCm39)	V199M	probably damaging	Het
Prrc2b	C	T	2: 32,108,689 (GRCm39)	A1637V	probably benign	Het
Rab3il1	A	T	19: 10,004,936 (GRCm39)	M57L	possibly damaging	Het
Rbl2	A	G	8: 91,833,825 (GRCm39)	D885G	probably damaging	Het
Rbm25	A	G	12: 83,691,205 (GRCm39)	M47V	unknown	Het
Rd3l	T	A	12: 111,946,638 (GRCm39)	H46L	probably benign	Het
Scn5a	C	G	9: 119,391,611 (GRCm39)	R27P	possibly damaging	Het
Set	T	A	2: 29,959,100 (GRCm39)	V99D	probably benign	Het
Sh3tc1	T	A	5: 35,875,696 (GRCm39)	I138F	probably damaging	Het
Slf2	T	A	19: 44,923,596 (GRCm39)	S137T	possibly damaging	Het
Smg8	A	T	11: 86,976,063 (GRCm39)	M506K	possibly damaging	Het
Trav16d-dv11	T	C	14: 53,284,999 (GRCm39)	V25A	probably damaging	Het
Ttc6	A	G	12: 57,776,210 (GRCm39)	Y1718C	probably damaging	Het
Vrk1	A	G	12: 106,036,793 (GRCm39)	K360E	probably benign	Het
Xirp2	T	A	2: 67,342,017 (GRCm39)	H1419Q	possibly damaging	Het
Yes1	T	C	5: 32,802,366 (GRCm39)	F94L	probably damaging	Het
Zc2hc1c	T	C	12: 85,336,946 (GRCm39)	L201P	probably benign	Het
Zfp638	C	T	6: 83,954,391 (GRCm39)	R1499W	probably damaging	Het
Znfx1	A	T	2: 166,897,157 (GRCm39)	L589Q	probably damaging	Het

Other mutations in Stpg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Stpg2	APN	3	139,125,635 (GRCm39)	splice site	probably benign
IGL01505:Stpg2	APN	3	139,023,214 (GRCm39)	missense	probably benign	0.02
IGL01649:Stpg2	APN	3	139,125,623 (GRCm39)	missense	probably damaging	1.00
IGL03264:Stpg2	APN	3	139,014,970 (GRCm39)	missense	possibly damaging	0.72
PIT4687001:Stpg2	UTSW	3	138,921,026 (GRCm39)	missense	possibly damaging	0.89
R0053:Stpg2	UTSW	3	138,918,082 (GRCm39)	missense	probably benign	0.00
R0099:Stpg2	UTSW	3	138,948,954 (GRCm39)	splice site	probably benign
R0417:Stpg2	UTSW	3	138,924,082 (GRCm39)	missense	probably damaging	1.00
R1646:Stpg2	UTSW	3	139,125,463 (GRCm39)	splice site	probably benign
R1719:Stpg2	UTSW	3	138,937,960 (GRCm39)	missense	probably benign	0.11
R1791:Stpg2	UTSW	3	139,023,162 (GRCm39)	missense	probably benign	0.00
R1799:Stpg2	UTSW	3	139,125,542 (GRCm39)	missense	probably damaging	1.00
R1912:Stpg2	UTSW	3	139,228,742 (GRCm39)	splice site	probably null
R1974:Stpg2	UTSW	3	139,014,944 (GRCm39)	nonsense	probably null
R3725:Stpg2	UTSW	3	139,023,238 (GRCm39)	missense	probably benign	0.00
R3727:Stpg2	UTSW	3	139,004,257 (GRCm39)	missense	probably damaging	1.00
R4225:Stpg2	UTSW	3	138,921,053 (GRCm39)	missense	probably damaging	0.97
R4694:Stpg2	UTSW	3	139,023,177 (GRCm39)	missense	possibly damaging	0.94
R4698:Stpg2	UTSW	3	139,014,990 (GRCm39)	missense	probably damaging	1.00
R4879:Stpg2	UTSW	3	138,921,134 (GRCm39)	missense	probably benign	0.03
R5236:Stpg2	UTSW	3	138,937,984 (GRCm39)	missense	probably damaging	1.00
R5476:Stpg2	UTSW	3	138,948,899 (GRCm39)	missense	probably benign	0.03
R5567:Stpg2	UTSW	3	139,125,547 (GRCm39)	missense	probably benign	0.22
R6297:Stpg2	UTSW	3	139,407,432 (GRCm39)	missense	possibly damaging	0.91
R6692:Stpg2	UTSW	3	139,228,738 (GRCm39)	critical splice donor site	probably null
R7113:Stpg2	UTSW	3	139,407,535 (GRCm39)	critical splice donor site	probably null
R7154:Stpg2	UTSW	3	138,921,056 (GRCm39)	missense	probably benign	0.44
R7553:Stpg2	UTSW	3	138,924,098 (GRCm39)	missense	probably damaging	1.00
R7660:Stpg2	UTSW	3	139,407,458 (GRCm39)	missense	probably damaging	0.98
R8105:Stpg2	UTSW	3	138,948,925 (GRCm39)	missense	probably damaging	1.00
R8902:Stpg2	UTSW	3	139,004,170 (GRCm39)	missense	probably damaging	1.00
R9165:Stpg2	UTSW	3	139,014,993 (GRCm39)	missense	possibly damaging	0.57
RF021:Stpg2	UTSW	3	138,918,011 (GRCm39)	critical splice acceptor site	probably null
X0009:Stpg2	UTSW	3	139,004,223 (GRCm39)	missense	probably benign	0.00
X0018:Stpg2	UTSW	3	138,948,851 (GRCm39)	missense	probably benign	0.44
Z1176:Stpg2	UTSW	3	139,407,401 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTCATTAACTTTGAAAGCCGTTG -3'
(R):5'- AATTCATCTGCTGACTGTGATCAG -3'

Sequencing Primer
(F):5'- TTAACTTTGAAAGCCGTTGATAAAC -3'
(R):5'- CTTACCATACTTGCCTAGC -3'

Posted On

2020-06-30