Mutagenetix > Incidental Mutation

Incidental Mutation 'R4676:Gnl2'

349561

Institutional Source

Beutler Lab

Gene Symbol

Gnl2

Ensembl Gene

ENSMUSG00000028869

Gene Name

guanine nucleotide binding protein nucleolar 2

Synonyms

Ngp-1

MMRRC Submission

042013-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R4676 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124920866-124949175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 124947266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 629 (S629R)

Ref Sequence

ENSEMBL: ENSMUSP00000030684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030684] [ENSMUST00000036383]

AlphaFold

Q99LH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030684
AA Change: S629R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030684
Gene: ENSMUSG00000028869
AA Change: S629R

Domain	Start	End	E-Value	Type
Pfam:NGP1NT	43	174	1.2e-51	PFAM
SCOP:d1egaa1	178	261	8e-3	SMART
Pfam:FeoB_N	311	398	3.1e-6	PFAM
Pfam:MMR_HSR1	312	432	3.4e-13	PFAM
low complexity region	480	500	N/A	INTRINSIC
low complexity region	551	579	N/A	INTRINSIC
low complexity region	679	687	N/A	INTRINSIC
low complexity region	700	710	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036383

SMART Domains

Protein: ENSMUSP00000047783
Gene: ENSMUSG00000042707

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
Pfam:Ax_dynein_light	66	252	1.2e-96	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147550

Meta Mutation Damage Score

0.0825

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,078,382 (GRCm39)	I13N	probably damaging	Het
Abcd3	T	A	3: 121,567,815 (GRCm39)	T409S	possibly damaging	Het
Acad12	C	A	5: 121,745,234 (GRCm39)	W317L	probably damaging	Het
Acap1	T	A	11: 69,780,294 (GRCm39)	M50L	probably benign	Het
Acvr1b	T	A	15: 101,100,867 (GRCm39)	V343E	probably damaging	Het
Adgb	C	A	10: 10,302,454 (GRCm39)	G371W	probably damaging	Het
Akap9	A	G	5: 4,082,774 (GRCm39)	K1966R	probably damaging	Het
Akap9	C	T	5: 4,114,515 (GRCm39)	Q48*	probably null	Het
Ano10	T	C	9: 122,092,853 (GRCm39)	R159G	probably damaging	Het
Anxa7	T	C	14: 20,517,983 (GRCm39)	M128V	probably benign	Het
Arhgef40	C	A	14: 52,228,416 (GRCm39)	C554*	probably null	Het
Atf6	T	C	1: 170,614,979 (GRCm39)	Y538C	probably damaging	Het
Atp8b1	A	C	18: 64,671,749 (GRCm39)	D1091E	probably benign	Het
BC034090	A	G	1: 155,102,010 (GRCm39)	Y85H	possibly damaging	Het
Bcas2	A	G	3: 103,083,017 (GRCm39)		probably benign	Het
Bnc2	T	C	4: 84,211,056 (GRCm39)	N463D	probably damaging	Het
Capn7	A	T	14: 31,081,216 (GRCm39)	H411L	possibly damaging	Het
Cavin3	T	C	7: 105,130,320 (GRCm39)	E164G	probably damaging	Het
Ccdc191	T	C	16: 43,759,536 (GRCm39)		probably benign	Het
Ccdc88b	A	G	19: 6,830,368 (GRCm39)	V858A	probably benign	Het
Clcn3	A	G	8: 61,383,685 (GRCm39)		probably benign	Het
Commd6	T	C	14: 101,877,720 (GRCm39)		probably benign	Het
Cspg4b	C	A	13: 113,505,341 (GRCm39)	L2157I	probably damaging	Het
Cspg4b	T	G	13: 113,505,342 (GRCm39)	L2157R	probably damaging	Het
Cul3	G	A	1: 80,249,391 (GRCm39)	L561F	probably damaging	Het
Cyfip1	T	A	7: 55,524,761 (GRCm39)	I131N	probably damaging	Het
Dlgap3	T	A	4: 127,127,554 (GRCm39)	Y741N	probably damaging	Het
Dnaaf10	T	C	11: 17,179,794 (GRCm39)	V265A	probably benign	Het
Dnah5	A	T	15: 28,295,406 (GRCm39)	I1380F	possibly damaging	Het
Dync1h1	G	T	12: 110,628,975 (GRCm39)	L4177F	probably damaging	Het
Ethe1	G	A	7: 24,307,319 (GRCm39)	V178M	probably damaging	Het
Flnc	A	T	6: 29,445,153 (GRCm39)		probably null	Het
Get3	C	T	8: 85,745,502 (GRCm39)	A219T	probably benign	Het
Glt8d1	T	C	14: 30,728,649 (GRCm39)	F26L	probably benign	Het
Gm5493	T	A	17: 22,967,054 (GRCm39)	D63E	probably benign	Het
Gm9996	T	A	10: 29,019,834 (GRCm39)		probably benign	Het
Gpbp1l1	T	C	4: 116,447,462 (GRCm39)	S381P	probably damaging	Het
Igsf10	A	C	3: 59,233,370 (GRCm39)	F1788V	probably benign	Het
Inpp5d	C	A	1: 87,642,864 (GRCm39)	P935Q	probably damaging	Het
Itch	A	C	2: 155,041,355 (GRCm39)	I468L	probably benign	Het
Itga5	A	T	15: 103,265,637 (GRCm39)	Y192N	probably damaging	Het
Itih3	T	A	14: 30,643,643 (GRCm39)	Q121L	possibly damaging	Het
Itih3	T	A	14: 30,640,906 (GRCm39)	Q302L	probably null	Het
Kctd17	T	A	15: 78,319,959 (GRCm39)		probably benign	Het
Lsm1	T	C	8: 26,283,717 (GRCm39)	L43P	probably damaging	Het
Magi3	A	T	3: 103,923,141 (GRCm39)	M1192K	probably benign	Het
Mecom	A	G	3: 30,322,817 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,483,606 (GRCm39)	V597A	probably damaging	Het
Mtmr3	A	T	11: 4,477,855 (GRCm39)	F63Y	probably benign	Het
Naa16	A	G	14: 79,573,788 (GRCm39)		probably benign	Het
Neto1	A	T	18: 86,416,427 (GRCm39)	T45S	possibly damaging	Het
Nlrp4a	A	T	7: 26,149,654 (GRCm39)	R420S	probably damaging	Het
Nr1h4	T	C	10: 89,309,736 (GRCm39)	D317G	probably damaging	Het
Or8b53	A	G	9: 38,666,955 (GRCm39)		probably benign	Het
Or9i16	C	T	19: 13,864,765 (GRCm39)	D270N	probably damaging	Het
Or9q2	T	A	19: 13,772,838 (GRCm39)	I46F	possibly damaging	Het
Pde5a	A	T	3: 122,541,542 (GRCm39)	M11L	possibly damaging	Het
Plxnb1	G	A	9: 108,939,503 (GRCm39)	R1416Q	possibly damaging	Het
Polm	A	T	11: 5,785,749 (GRCm39)	Y141*	probably null	Het
Rxfp1	A	G	3: 79,612,975 (GRCm39)	F32L	probably damaging	Het
Scrt1	T	A	15: 76,405,868 (GRCm39)	D13V	possibly damaging	Het
Slc1a7	T	A	4: 107,834,871 (GRCm39)	V79E	possibly damaging	Het
Snurf	T	C	7: 59,645,270 (GRCm39)	Q48R	probably benign	Het
Srek1	T	C	13: 103,894,695 (GRCm39)		probably benign	Het
Stxbp5l	T	C	16: 37,076,246 (GRCm39)	S267G	probably damaging	Het
Taf5	C	T	19: 47,063,409 (GRCm39)	R320W	probably damaging	Het
Tars2	A	T	3: 95,660,403 (GRCm39)	N106K	probably damaging	Het
Tatdn3	A	T	1: 190,781,531 (GRCm39)	L207Q	probably damaging	Het
Tdrd6	T	C	17: 43,938,501 (GRCm39)	E849G	probably damaging	Het
Tedc2	T	C	17: 24,438,985 (GRCm39)	T111A	probably benign	Het
Tfg	T	A	16: 56,514,854 (GRCm39)		probably null	Het
Tgds	A	T	14: 118,353,643 (GRCm39)	S225T	probably benign	Het
Tnks2	T	A	19: 36,852,671 (GRCm39)	Y134*	probably null	Het
Trappc1	T	A	11: 69,216,356 (GRCm39)	V134D	probably damaging	Het
Ttc3	C	A	16: 94,243,620 (GRCm39)	P853Q	probably damaging	Het
Ttc7	C	A	17: 87,678,163 (GRCm39)		probably benign	Het
Ttf1	A	G	2: 28,964,606 (GRCm39)	S643G	probably damaging	Het
Tubgcp3	A	T	8: 12,700,171 (GRCm39)	S338T	probably damaging	Het
Ugt1a6a	T	C	1: 88,067,007 (GRCm39)	I271T	possibly damaging	Het
Vipas39	T	A	12: 87,288,075 (GRCm39)	Y445F	probably damaging	Het
Vmn1r31	A	C	6: 58,448,998 (GRCm39)	I289S	probably damaging	Het
Zfp112	A	G	7: 23,825,685 (GRCm39)	E551G	probably damaging	Het
Zfp397	T	A	18: 24,093,854 (GRCm39)	Y446*	probably null	Het
Zfp442	A	T	2: 150,251,526 (GRCm39)	H124Q	probably damaging	Het

Other mutations in Gnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Gnl2	APN	4	124,941,405 (GRCm39)	splice site	probably null
IGL02536:Gnl2	APN	4	124,946,401 (GRCm39)	nonsense	probably null
IGL03358:Gnl2	APN	4	124,946,387 (GRCm39)	missense	probably damaging	1.00
PIT4283001:Gnl2	UTSW	4	124,940,099 (GRCm39)	missense	probably damaging	1.00
R0377:Gnl2	UTSW	4	124,940,175 (GRCm39)	splice site	probably benign
R0419:Gnl2	UTSW	4	124,947,320 (GRCm39)	missense	probably benign	0.00
R0975:Gnl2	UTSW	4	124,942,171 (GRCm39)	missense	probably damaging	0.99
R1529:Gnl2	UTSW	4	124,940,099 (GRCm39)	missense	probably damaging	1.00
R1550:Gnl2	UTSW	4	124,938,027 (GRCm39)	missense	probably damaging	1.00
R1942:Gnl2	UTSW	4	124,923,957 (GRCm39)	missense	probably benign	0.01
R2095:Gnl2	UTSW	4	124,928,111 (GRCm39)	missense	probably damaging	1.00
R2125:Gnl2	UTSW	4	124,947,278 (GRCm39)	missense	probably benign	0.01
R3712:Gnl2	UTSW	4	124,940,067 (GRCm39)	missense	probably damaging	0.98
R3781:Gnl2	UTSW	4	124,931,399 (GRCm39)	missense	probably damaging	0.99
R4656:Gnl2	UTSW	4	124,934,790 (GRCm39)	nonsense	probably null
R4710:Gnl2	UTSW	4	124,947,252 (GRCm39)	missense	probably benign	0.01
R4734:Gnl2	UTSW	4	124,934,811 (GRCm39)	missense	probably benign
R4916:Gnl2	UTSW	4	124,937,485 (GRCm39)	missense	probably damaging	1.00
R5106:Gnl2	UTSW	4	124,947,329 (GRCm39)	critical splice donor site	probably null
R5310:Gnl2	UTSW	4	124,946,633 (GRCm39)	missense	probably benign	0.00
R5506:Gnl2	UTSW	4	124,949,158 (GRCm39)	utr 3 prime	probably benign
R5967:Gnl2	UTSW	4	124,934,823 (GRCm39)	missense	probably benign	0.00
R6184:Gnl2	UTSW	4	124,948,022 (GRCm39)	critical splice donor site	probably null
R6395:Gnl2	UTSW	4	124,940,058 (GRCm39)	missense	probably damaging	0.99
R6432:Gnl2	UTSW	4	124,946,353 (GRCm39)	missense	possibly damaging	0.86
R6672:Gnl2	UTSW	4	124,942,186 (GRCm39)	missense	probably damaging	1.00
R7657:Gnl2	UTSW	4	124,923,951 (GRCm39)	missense	probably benign	0.00
R8387:Gnl2	UTSW	4	124,949,127 (GRCm39)	makesense	probably null
R8408:Gnl2	UTSW	4	124,938,082 (GRCm39)	missense	probably damaging	0.98
R9083:Gnl2	UTSW	4	124,941,357 (GRCm39)	missense	probably damaging	1.00
R9276:Gnl2	UTSW	4	124,947,250 (GRCm39)	missense	possibly damaging	0.83
RF003:Gnl2	UTSW	4	124,937,518 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTAGGCACCTGAAGTACATGGAG -3'
(R):5'- GTGGAGAGCTCAATTTGCATG -3'

Sequencing Primer
(F):5'- ACCTGAAGTACATGGAGCTTGGTTAC -3'
(R):5'- GCTCAATTTGCATGGTAAGCAG -3'

Posted On

2015-10-08