Mutagenetix > Incidental Mutation

Incidental Mutation 'R4328:Gpn2'

324463

Institutional Source

Beutler Lab

Gene Symbol

Gpn2

Ensembl Gene

ENSMUSG00000028848

Gene Name

GPN-loop GTPase 2

Synonyms

Atpbd1b

MMRRC Submission

041098-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R4328 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133311684-133319046 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133315919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 203 (V203A)

Ref Sequence

ENSEMBL: ENSMUSP00000101519 (fasta)

Gene Model

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

AlphaFold

Q8VEJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000030661
AA Change: V226A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030661
Gene: ENSMUSG00000028848
AA Change: V226A

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: V203A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101519
Gene: ENSMUSG00000028848
AA Change: V203A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148909

Meta Mutation Damage Score

0.0643

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300009A05Rik	T	C	9: 63,306,238 (GRCm39)	K89R	probably damaging	Het
Aadacl4fm2	T	A	4: 144,282,164 (GRCm39)	K209N	possibly damaging	Het
Alcam	T	C	16: 52,073,579 (GRCm39)	N549S	possibly damaging	Het
Arap2	A	T	5: 62,779,206 (GRCm39)	H1461Q	possibly damaging	Het
Bin3	A	G	14: 70,356,054 (GRCm39)	I4V	probably benign	Het
Brd10	G	T	19: 29,720,961 (GRCm39)	T688K	probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Cd55	C	T	1: 130,375,104 (GRCm39)		probably benign	Het
Cd55	A	T	1: 130,380,220 (GRCm39)	C253S	probably damaging	Het
Col12a1	T	A	9: 79,607,671 (GRCm39)	T386S	possibly damaging	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Crym	C	T	7: 119,794,562 (GRCm39)	G219E	probably damaging	Het
Cwf19l2	A	T	9: 3,458,878 (GRCm39)	I776F	probably damaging	Het
Eif1ad16	T	A	12: 87,985,285 (GRCm39)	D86V	possibly damaging	Het
Erlec1	C	T	11: 30,899,972 (GRCm39)	E166K	probably benign	Het
Gm3336	C	T	8: 71,173,234 (GRCm39)	T82I	probably benign	Het
Gm3604	A	T	13: 62,517,079 (GRCm39)	S425R	possibly damaging	Het
Gskip	T	C	12: 105,666,960 (GRCm39)	Y113H	probably damaging	Het
Hcn2	T	C	10: 79,560,445 (GRCm39)	Y259H	probably damaging	Het
Hira	C	A	16: 18,715,362 (GRCm39)	Q87K	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kirrel1	T	C	3: 86,992,081 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,607,956 (GRCm39)	D372G	probably benign	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Ly6e	C	A	15: 74,830,370 (GRCm39)	N73K	probably damaging	Het
Med12l	T	C	3: 59,172,688 (GRCm39)	S1813P	probably benign	Het
Med24	A	G	11: 98,597,942 (GRCm39)		probably null	Het
Niban1	T	C	1: 151,512,169 (GRCm39)	S24P	possibly damaging	Het
Nup210l	C	A	3: 90,083,142 (GRCm39)		probably null	Het
Or2t1	T	A	14: 14,328,193 (GRCm38)	F27L	probably damaging	Het
Or5w12	C	A	2: 87,502,008 (GRCm39)	R234S	possibly damaging	Het
Or7g34	T	A	9: 19,478,318 (GRCm39)	M121L	possibly damaging	Het
Or8d1	T	C	9: 38,767,132 (GRCm39)	M258T	possibly damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Pak3	T	C	X: 142,516,205 (GRCm39)		probably null	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Pax8	A	G	2: 24,331,663 (GRCm39)	F140S	possibly damaging	Het
Ppargc1b	A	T	18: 61,515,540 (GRCm39)	C34*	probably null	Het
Ppp3cb	A	T	14: 20,581,016 (GRCm39)	I136K	probably damaging	Het
Prep	T	C	10: 44,996,745 (GRCm39)	V341A	probably benign	Het
Prickle4	C	A	17: 47,999,543 (GRCm39)	G337C	probably damaging	Het
Rabgap1	T	A	2: 37,422,627 (GRCm39)	Y627N	probably damaging	Het
Ryr1	T	C	7: 28,782,484 (GRCm39)	Y1953C	probably damaging	Het
Snrnp200	T	A	2: 127,064,137 (GRCm39)	V708D	probably damaging	Het
Tent5b	C	T	4: 133,213,914 (GRCm39)	Q262*	probably null	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem62	T	A	2: 120,810,991 (GRCm39)	N156K	probably damaging	Het
Ttyh1	A	T	7: 4,133,580 (GRCm39)	D295V	probably damaging	Het
Twsg1	T	C	17: 66,255,733 (GRCm39)	T14A	probably benign	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp239	T	C	6: 117,848,745 (GRCm39)	L161P	probably damaging	Het
Zpbp2	A	G	11: 98,448,432 (GRCm39)	T199A	probably benign	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
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
R8137:Gpn2	UTSW	4	133,315,873 (GRCm39)	missense	possibly damaging	0.88
R8516:Gpn2	UTSW	4	133,312,142 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTTTACCACTGAAGTCAATCC -3'
(R):5'- AATGAAGTCTGCTCCTGGGC -3'

Sequencing Primer
(F):5'- GGCCTTGCAAATGCTAAACATGTC -3'
(R):5'- TCCTGGGCCTGAAAGCAAGTC -3'

Posted On

2015-06-24