Mutagenetix > Incidental Mutation

Incidental Mutation 'R0053:Stpg2'

218409

Institutional Source

Beutler Lab

Gene Symbol

Stpg2

Ensembl Gene

ENSMUSG00000047940

Gene Name

sperm tail PG rich repeat containing 2

Synonyms

LOC381476, B930007M17Rik

MMRRC Submission

038347-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R0053 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

138910953-139415185 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138918082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 60 (Q60R)

Ref Sequence

ENSEMBL: ENSMUSP00000101846 (fasta)

Gene Model

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

AlphaFold

Q8C8J0

Predicted Effect

probably benign
Transcript: ENSMUST00000062306
AA Change: Q60R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000051539
Gene: ENSMUSG00000047940
AA Change: Q60R

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 benign
Transcript: ENSMUST00000106239
AA Change: Q60R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101846
Gene: ENSMUSG00000047940
AA Change: Q60R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.5%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	A	T	2: 163,574,212 (GRCm39)	V148D	probably damaging	Het
Alpi	T	C	1: 87,026,512 (GRCm39)	D493G	probably benign	Het
Atp10b	A	G	11: 43,107,391 (GRCm39)		probably benign	Het
AY761185	A	T	8: 21,434,546 (GRCm39)		probably benign	Het
Cadm1	C	T	9: 47,710,712 (GRCm39)	T205I	probably damaging	Het
Capn3	A	G	2: 120,322,318 (GRCm39)	I413V	possibly damaging	Het
Cblb	C	T	16: 51,963,164 (GRCm39)	T369I	probably damaging	Het
Ccdc54	T	A	16: 50,410,597 (GRCm39)	N223I	probably benign	Het
Cdc25c	A	G	18: 34,868,488 (GRCm39)	V294A	probably benign	Het
Cep170	A	T	1: 176,609,946 (GRCm39)	S122T	possibly damaging	Het
Chd1	A	G	17: 15,967,451 (GRCm39)	N849D	probably damaging	Het
Cspg4b	T	C	13: 113,505,023 (GRCm39)	W2051R	probably benign	Het
Dpp3	A	G	19: 4,973,154 (GRCm39)	C147R	probably damaging	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Fbxw9	T	A	8: 85,791,083 (GRCm39)	L250Q	probably damaging	Het
Gpr75	A	T	11: 30,842,571 (GRCm39)	Q492L	possibly damaging	Het
Gramd4	T	A	15: 86,014,339 (GRCm39)		probably benign	Het
Hivep2	T	C	10: 14,007,865 (GRCm39)	C1488R	probably damaging	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Inava	C	T	1: 136,155,288 (GRCm39)	V106I	probably benign	Het
Insr	A	G	8: 3,205,683 (GRCm39)	S1369P	probably damaging	Het
Insrr	A	C	3: 87,707,759 (GRCm39)	D67A	probably damaging	Het
Irf2	T	A	8: 47,271,886 (GRCm39)	Y158N	probably benign	Het
Katnbl1	A	G	2: 112,234,586 (GRCm39)	R23G	probably benign	Het
Lamb2	T	A	9: 108,363,936 (GRCm39)	C987*	probably null	Het
Lzts2	T	C	19: 45,014,746 (GRCm39)		probably benign	Het
Mmp14	T	A	14: 54,676,109 (GRCm39)		probably benign	Het
Mycbpap	A	G	11: 94,402,562 (GRCm39)	Y258H	probably damaging	Het
Nav3	A	G	10: 109,602,778 (GRCm39)		probably benign	Het
Or10j7	T	C	1: 173,011,845 (GRCm39)	D52G	probably benign	Het
Or4c100	T	A	2: 88,356,507 (GRCm39)	N193K	probably damaging	Het
Parp10	T	A	15: 76,126,446 (GRCm39)	L247F	probably damaging	Het
Pcsk6	C	T	7: 65,633,451 (GRCm39)		probably benign	Het
Pgap3	A	T	11: 98,281,924 (GRCm39)	V129D	probably benign	Het
Pibf1	A	G	14: 99,377,993 (GRCm39)	Y373C	probably damaging	Het
Plcb1	A	G	2: 135,136,835 (GRCm39)	E310G	probably benign	Het
Plin3	T	C	17: 56,586,892 (GRCm39)	D385G	probably damaging	Het
Pole	A	T	5: 110,441,206 (GRCm39)	D220V	probably damaging	Het
Ptprk	T	A	10: 28,351,105 (GRCm39)	F533I	probably damaging	Het
Resf1	T	A	6: 149,229,088 (GRCm39)	D711E	probably benign	Het
Rufy1	A	T	11: 50,292,292 (GRCm39)	M499K	probably benign	Het
Scn1a	T	G	2: 66,130,119 (GRCm39)	D1232A	probably benign	Het
Sec23ip	T	C	7: 128,346,891 (GRCm39)	L49P	probably damaging	Het
Sf3b1	G	A	1: 55,039,532 (GRCm39)	Q698*	probably null	Het
Shprh	A	T	10: 11,070,116 (GRCm39)		probably null	Het
Snd1	C	A	6: 28,745,334 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,862,644 (GRCm39)	A2260T	possibly damaging	Het
Strn	T	C	17: 78,964,363 (GRCm39)	H687R	possibly damaging	Het
Tgfb3	A	T	12: 86,124,603 (GRCm39)	I35N	probably damaging	Het
Tnks2	T	C	19: 36,852,765 (GRCm39)	S166P	probably damaging	Het
Tyw5	G	A	1: 57,440,597 (GRCm39)	T55M	probably damaging	Het
Usp19	A	G	9: 108,374,369 (GRCm39)		probably null	Het
Zfp13	A	T	17: 23,795,122 (GRCm39)	I483N	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
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
R8154:Stpg2	UTSW	3	139,014,938 (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'- ACATACACAGACAgagagagagaggga -3'
(R):5'- GGGAAGGAAATAAAATACAGGAAATGGCAC -3'

Sequencing Primer
(F):5'- gaggaagggagagggagag -3'
(R):5'- AGGAAATGGCACTTTATTATTGAGAC -3'

Posted On

2014-08-06