Mutagenetix > Incidental Mutation

Incidental Mutation 'R8902:Stpg2'

678225

Institutional Source

Beutler Lab

Gene Symbol

Stpg2

Ensembl Gene

ENSMUSG00000047940

Gene Name

sperm tail PG rich repeat containing 2

Synonyms

LOC381476, B930007M17Rik

MMRRC Submission

068759-MU

Accession Numbers

Essential gene?

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

Stock #

R8902 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138910953-139415185 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139004170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 249 (V249E)

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: V249E

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

SMART Domains

Protein: ENSMUSP00000051539
Gene: ENSMUSG00000047940
AA Change: V249E

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: V249E

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

SMART Domains

Protein: ENSMUSP00000101846
Gene: ENSMUSG00000047940
AA Change: V249E

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	G	T	4: 155,990,371 (GRCm39)	R819L	possibly damaging	Het
App	A	G	16: 84,876,767 (GRCm39)	V208A	unknown	Het
C1qtnf7	G	A	5: 43,773,204 (GRCm39)	E168K	probably damaging	Het
Cacna1e	C	T	1: 154,349,632 (GRCm39)	M757I	probably benign	Het
Casp1	A	G	9: 5,299,333 (GRCm39)	T21A	probably benign	Het
Ccdc92	C	T	5: 124,912,705 (GRCm39)	A275T	possibly damaging	Het
Ccr4	T	A	9: 114,325,620 (GRCm39)		probably benign	Het
Cct8l1	C	T	5: 25,722,908 (GRCm39)	T541I	probably benign	Het
Chrng	G	T	1: 87,138,397 (GRCm39)	R396L	possibly damaging	Het
Cmip	A	G	8: 118,103,925 (GRCm39)	T50A	probably damaging	Het
Ddx21	C	A	10: 62,434,486 (GRCm39)	S91I	probably benign	Het
Dnmbp	A	G	19: 43,890,225 (GRCm39)	L514P	probably benign	Het
Echs1	A	T	7: 139,690,499 (GRCm39)	M191K	probably damaging	Het
Eps8	A	G	6: 137,489,175 (GRCm39)	S408P	probably damaging	Het
Fat2	T	C	11: 55,200,896 (GRCm39)	E726G	probably damaging	Het
Fpr2	T	C	17: 18,113,190 (GRCm39)	I62T	probably benign	Het
Gemin4	G	A	11: 76,102,848 (GRCm39)	Q638*	probably null	Het
Glrb	A	T	3: 80,769,285 (GRCm39)	N147K	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gtf2i	T	C	5: 134,278,720 (GRCm39)	N637S	probably benign	Het
Hivep3	A	G	4: 119,953,937 (GRCm39)	E751G	possibly damaging	Het
Ifnb1	G	T	4: 88,440,547 (GRCm39)	N155K	probably damaging	Het
Igf2bp3	G	T	6: 49,065,365 (GRCm39)	T509K	probably damaging	Het
Igsf10	T	C	3: 59,243,633 (GRCm39)	M234V	probably benign	Het
Iqgap2	C	T	13: 95,818,711 (GRCm39)	A682T	probably benign	Het
Ireb2	T	G	9: 54,799,786 (GRCm39)	M409R	probably benign	Het
Kat6b	C	T	14: 21,719,629 (GRCm39)	T1327I	probably benign	Het
Krtap5-5	A	G	7: 141,783,630 (GRCm39)	S7P	unknown	Het
Lelp1	A	T	3: 92,042,978 (GRCm39)	C24S	unknown	Het
Malrd1	A	T	2: 16,260,145 (GRCm39)	K2122*	probably null	Het
Mei1	C	A	15: 81,954,212 (GRCm39)	R6S	unknown	Het
Meis3	T	A	7: 15,911,887 (GRCm39)	I119N	probably benign	Het
Mmp20	T	C	9: 7,639,288 (GRCm39)	V152A	probably benign	Het
Muc6	T	A	7: 141,233,791 (GRCm39)	I797F	possibly damaging	Het
Myo7a	C	T	7: 97,741,820 (GRCm39)	E439K	probably damaging	Het
Neb	C	A	2: 52,133,222 (GRCm39)	A3439S	probably damaging	Het
Nfe2l1	T	A	11: 96,708,620 (GRCm39)	D715V	unknown	Het
Obscn	C	A	11: 59,026,762 (GRCm39)	R147L	probably benign	Het
Or14j5	T	A	17: 38,162,101 (GRCm39)	M206K	probably benign	Het
Or2m12	T	A	16: 19,105,383 (GRCm39)	I37F	probably damaging	Het
Or2y1b	A	T	11: 49,209,206 (GRCm39)	T278S	probably benign	Het
Or4e5	G	A	14: 52,728,010 (GRCm39)	T137I	probably benign	Het
Or5d38	A	G	2: 87,954,778 (GRCm39)	S184P	probably damaging	Het
Plg	T	A	17: 12,629,790 (GRCm39)	F608Y	probably benign	Het
Plppr1	C	A	4: 49,319,836 (GRCm39)	P154Q	probably damaging	Het
Ppp2r5e	T	C	12: 75,500,570 (GRCm39)	K441R	probably benign	Het
Prkaca	T	C	8: 84,703,714 (GRCm39)	S5P	probably benign	Het
Rbl1	T	C	2: 157,041,420 (GRCm39)	K69R	probably benign	Het
Rbpms2	T	C	9: 65,558,351 (GRCm39)	I129T	probably benign	Het
Serpina1c	A	T	12: 103,865,117 (GRCm39)	N176K	probably damaging	Het
Sgsm3	C	T	15: 80,890,796 (GRCm39)	H117Y	probably damaging	Het
Sphkap	A	T	1: 83,256,685 (GRCm39)	C355S	probably benign	Het
Syt2	T	C	1: 134,675,391 (GRCm39)	V414A	possibly damaging	Het
Tiam2	T	C	17: 3,527,471 (GRCm39)	I1050T	probably benign	Het
Tmem131	A	T	1: 36,848,046 (GRCm39)	I1134N	probably damaging	Het
Ttc23	A	G	7: 67,342,761 (GRCm39)	E293G		Het
Ttc41	C	A	10: 86,548,865 (GRCm39)	R20S	probably benign	Het
Ttn	C	T	2: 76,571,133 (GRCm39)	V26587M	probably damaging	Het
Ugt2a2	T	C	5: 87,608,270 (GRCm39)	K523R	possibly damaging	Het
Unc13c	A	G	9: 73,656,830 (GRCm39)	C1124R	probably damaging	Het
Ush2a	T	A	1: 188,175,281 (GRCm39)	N1126K	probably damaging	Het
Usp36	A	T	11: 118,165,840 (GRCm39)	L326Q	probably damaging	Het
Zfp568	T	C	7: 29,713,307 (GRCm39)	M120T	probably benign	Het
Zfp944	T	C	17: 22,558,761 (GRCm39)	D162G	probably benign	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
R8154:Stpg2	UTSW	3	139,014,938 (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'- GTCCAAATGATACTTTGACCAGG -3'
(R):5'- CACAATTCTGCAGGGTTTTGCC -3'

Sequencing Primer
(F):5'- CCAAATGATACTTTGACCAGGATCTC -3'
(R):5'- GGTTTTGCCCCTAATATACCCAC -3'

Posted On

2021-08-02