Mutagenetix > Incidental Mutation

Incidental Mutation 'R8137:Gpn2'

632294

Institutional Source

Beutler Lab

Gene Symbol

Gpn2

Ensembl Gene

ENSMUSG00000028848

Gene Name

GPN-loop GTPase 2

Synonyms

Atpbd1b

MMRRC Submission

067565-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R8137 (G1)

Quality Score

212.009

Status

Validated

Chromosome

Chromosomal Location

133311684-133319046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133315873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 211 (S211P)

Ref Sequence

ENSEMBL: ENSMUSP00000030661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030661] [ENSMUST00000030662] [ENSMUST00000105899]

AlphaFold

Q8VEJ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030661
AA Change: S211P

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030661
Gene: ENSMUSG00000028848
AA Change: S211P

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	14	261	6.6e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030662

SMART Domains

Protein: ENSMUSP00000030662
Gene: ENSMUSG00000028850

Domain	Start	End	E-Value	Type
low complexity region	83	97	N/A	INTRINSIC
low complexity region	274	305	N/A	INTRINSIC
G_patch	409	457	1.3e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105899
AA Change: S188P

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101519
Gene: ENSMUSG00000028848
AA Change: S188P

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	14	117	9.2e-42	PFAM
Pfam:ATP_bind_1	115	238	4.3e-28	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.8%
20x: 96.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfn1	T	G	11: 89,344,003 (GRCm39)	Q326H	probably benign	Het
Carf	G	A	1: 60,187,124 (GRCm39)	V576I	probably benign	Het
Ccnl1	C	T	3: 65,865,291 (GRCm39)	D87N	possibly damaging	Het
Cgref1	T	A	5: 31,091,749 (GRCm39)	D111V	possibly damaging	Het
Cnot4	G	A	6: 35,023,222 (GRCm39)	P567S	unknown	Het
Cyp7b1	A	T	3: 18,151,765 (GRCm39)	D149E	probably benign	Het
Dcc	A	T	18: 71,511,783 (GRCm39)	D877E	probably benign	Het
Dhx8	T	A	11: 101,654,808 (GRCm39)	I1032N	probably damaging	Het
Dnah7b	A	G	1: 46,272,913 (GRCm39)	Y2347C	probably damaging	Het
Dtx3	A	G	10: 127,029,041 (GRCm39)	S63P	possibly damaging	Het
Dyrk2	C	T	10: 118,695,789 (GRCm39)	E490K	probably benign	Het
Fcgbp	A	C	7: 27,804,496 (GRCm39)	Y1868S	probably damaging	Het
Foxa2	T	C	2: 147,885,768 (GRCm39)	H355R	probably benign	Het
Fpr-rs7	A	G	17: 20,334,055 (GRCm39)	V145A	possibly damaging	Het
Gm14137	A	T	2: 119,005,837 (GRCm39)	E132V	probably benign	Het
Greb1l	A	T	18: 10,474,357 (GRCm39)	Q224L	possibly damaging	Het
Gspt1	A	G	16: 11,058,532 (GRCm39)	V144A	probably benign	Het
Ifi204	A	G	1: 173,589,188 (GRCm39)	I81T	possibly damaging	Het
Il27ra	T	A	8: 84,767,720 (GRCm39)		probably null	Het
Kif21a	T	C	15: 90,852,645 (GRCm39)	T862A	probably benign	Het
Klf2	T	C	8: 73,074,088 (GRCm39)		probably null	Het
Kmt2e	A	G	5: 23,706,952 (GRCm39)	Y1505C	probably damaging	Het
Mcm9	T	C	10: 53,499,076 (GRCm39)	T216A		Het
Muc16	T	C	9: 18,556,972 (GRCm39)	E3107G	unknown	Het
Ncor2	C	T	5: 125,114,957 (GRCm39)	V169I		Het
Oas3	T	C	5: 120,915,565 (GRCm39)	Q42R	probably benign	Het
Or2l5	A	G	16: 19,333,846 (GRCm39)	V180A	possibly damaging	Het
Or4p8	T	C	2: 88,727,013 (GRCm39)	*309W	probably null	Het
Pde10a	A	G	17: 9,193,647 (GRCm39)	Y693C	possibly damaging	Het
Pde11a	T	C	2: 76,041,383 (GRCm39)	E429G	possibly damaging	Het
Pramel23	A	G	4: 143,425,835 (GRCm39)	F36S	probably damaging	Het
Pygo1	A	G	9: 72,852,140 (GRCm39)	H109R	probably damaging	Het
Rbsn	A	T	6: 92,167,003 (GRCm39)	V547D	probably benign	Het
Ros1	A	G	10: 52,001,933 (GRCm39)	I1084T	possibly damaging	Het
Sis	T	C	3: 72,796,378 (GRCm39)	D1801G	probably benign	Het
Slco4c1	C	T	1: 96,748,970 (GRCm39)	G649E	probably damaging	Het
Spmip10	A	G	18: 56,727,653 (GRCm39)	D117G	probably damaging	Het
Sptbn2	A	T	19: 4,787,431 (GRCm39)	I914F	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Strc	C	T	2: 121,197,219 (GRCm39)	G1503R	probably damaging	Het
Sv2c	T	A	13: 96,225,171 (GRCm39)	Y46F	probably damaging	Het
Tctn3	A	T	19: 40,593,785 (GRCm39)	W462R	probably damaging	Het
Tjp3	T	C	10: 81,109,525 (GRCm39)	D857G	probably benign	Het
Tor1aip2	C	T	1: 155,939,414 (GRCm39)	T242I	possibly damaging	Het
Ttn	T	A	2: 76,800,273 (GRCm39)	I312F	unknown	Het
Vezt	T	C	10: 93,775,154 (GRCm39)	N94D		Het
Vmn2r105	T	C	17: 20,454,966 (GRCm39)	N57D	probably benign	Het
Wdr59	T	C	8: 112,212,011 (GRCm39)	D353G		Het
Ykt6	T	C	11: 5,909,368 (GRCm39)	V59A	probably damaging	Het
Ypel3	T	G	7: 126,377,269 (GRCm39)	V54G	possibly damaging	Het
Zfp386	T	A	12: 116,023,268 (GRCm39)	C329S	possibly damaging	Het
Zfp451	A	T	1: 33,821,156 (GRCm39)	L232H	possibly damaging	Het
Zfp648	A	G	1: 154,081,110 (GRCm39)	H423R	probably damaging	Het
Zfp729b	T	C	13: 67,740,861 (GRCm39)	Y468C	probably damaging	Het

Other mutations in Gpn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01728:Gpn2	APN	4	133,311,813 (GRCm39)	missense	possibly damaging	0.95
IGL02207:Gpn2	APN	4	133,311,947 (GRCm39)	missense	possibly damaging	0.69
R0013:Gpn2	UTSW	4	133,312,103 (GRCm39)	missense	probably damaging	1.00
R0847:Gpn2	UTSW	4	133,315,906 (GRCm39)	missense	probably benign	0.41
R4233:Gpn2	UTSW	4	133,312,016 (GRCm39)	missense	probably damaging	1.00
R4328:Gpn2	UTSW	4	133,315,919 (GRCm39)	missense	probably benign
R5516:Gpn2	UTSW	4	133,312,190 (GRCm39)	splice site	probably null
R7641:Gpn2	UTSW	4	133,315,970 (GRCm39)	missense	probably null	0.14
R7658:Gpn2	UTSW	4	133,318,687 (GRCm39)	missense	probably benign	0.01
R7690:Gpn2	UTSW	4	133,318,693 (GRCm39)	missense	probably damaging	0.99
R7747:Gpn2	UTSW	4	133,313,356 (GRCm39)	missense	probably benign	0.02
R8516:Gpn2	UTSW	4	133,312,142 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACCCAGGGCTTTACCACTG -3'
(R):5'- GGACCTCAAATCTCTCTATGCC -3'

Sequencing Primer
(F):5'- AGGGCTTTACCACTGAAGTC -3'
(R):5'- AAATCTCTCTATGCCCGTGG -3'

Posted On

2020-06-30