Mutagenetix > Incidental Mutation

Incidental Mutation 'R7172:Glis2'

558378

Institutional Source

Beutler Lab

Gene Symbol

Glis2

Ensembl Gene

ENSMUSG00000014303

Gene Name

GLIS family zinc finger 2

Synonyms

Nkl

MMRRC Submission

045264-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R7172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4412577-4442788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4431339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 289 (V289I)

Ref Sequence

ENSEMBL: ENSMUSP00000014447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014445] [ENSMUST00000014447] [ENSMUST00000141682] [ENSMUST00000156889]

AlphaFold

Q8VDL9

Predicted Effect

probably benign
Transcript: ENSMUST00000014445

SMART Domains

Protein: ENSMUSP00000014445
Gene: ENSMUSG00000014301

Domain	Start	End	E-Value	Type
Pfam:Pam16	1	125	4.9e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000014447
AA Change: V289I

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000014447
Gene: ENSMUSG00000014303
AA Change: V289I

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
low complexity region	74	100	N/A	INTRINSIC
ZnF_C2H2	168	193	1.05e1	SMART
ZnF_C2H2	202	229	8.09e0	SMART
ZnF_C2H2	235	257	1.82e-3	SMART
ZnF_C2H2	263	287	3.16e-3	SMART
ZnF_C2H2	293	317	1.04e-3	SMART
low complexity region	328	342	N/A	INTRINSIC
low complexity region	358	385	N/A	INTRINSIC
low complexity region	387	402	N/A	INTRINSIC
low complexity region	405	418	N/A	INTRINSIC
low complexity region	420	445	N/A	INTRINSIC
low complexity region	468	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141682

SMART Domains

Protein: ENSMUSP00000115728
Gene: ENSMUSG00000014303

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
low complexity region	74	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156889

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a fusion allele exhibit decreased kidney weight, kidney atrophy, kidney cysts, and interstitial fibrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	A	T	2: 122,480,238 (GRCm39)	Y33F	probably damaging	Het
Abca4	C	T	3: 121,897,189 (GRCm39)	Q623*	probably null	Het
Abcb1a	A	T	5: 8,752,399 (GRCm39)	I457F	probably benign	Het
Abcb9	G	A	5: 124,200,869 (GRCm39)	Q716*	probably null	Het
Abhd15	T	C	11: 77,406,122 (GRCm39)	V33A	probably benign	Het
Abl2	A	G	1: 156,450,157 (GRCm39)	D108G	probably damaging	Het
Adamts3	G	A	5: 90,030,860 (GRCm39)		probably benign	Het
Atmin	G	T	8: 117,683,281 (GRCm39)	V314L	probably damaging	Het
Axl	G	T	7: 25,486,399 (GRCm39)	Q102K	probably benign	Het
Cdhr5	A	G	7: 140,851,841 (GRCm39)	S488P	possibly damaging	Het
Cnn1	C	A	9: 22,016,790 (GRCm39)	A126D	probably damaging	Het
Col25a1	A	T	3: 130,363,981 (GRCm39)	K537*	probably null	Het
Cxcl2	A	G	5: 91,051,879 (GRCm39)	T26A	probably benign	Het
Dcc	T	C	18: 71,511,755 (GRCm39)	T887A	probably benign	Het
Dhx36	T	C	3: 62,408,436 (GRCm39)	D134G	probably benign	Het
Dnah17	T	A	11: 117,931,957 (GRCm39)	K3672*	probably null	Het
Fadd	G	T	7: 144,135,908 (GRCm39)	H73Q	probably benign	Het
Fancm	A	G	12: 65,152,828 (GRCm39)	N1095D	possibly damaging	Het
Fhod3	T	C	18: 25,218,603 (GRCm39)	S789P	probably damaging	Het
Gm17728	A	C	17: 9,641,220 (GRCm39)	D110A	probably damaging	Het
Gm9602	T	A	14: 15,933,429 (GRCm39)	S45T	possibly damaging	Het
Gpr137	A	G	19: 6,917,049 (GRCm39)	S161P	possibly damaging	Het
Gpr89	C	T	3: 96,787,385 (GRCm39)		probably null	Het
Gps2	C	T	11: 69,807,262 (GRCm39)	T306I	probably benign	Het
Hmcn1	A	G	1: 150,629,450 (GRCm39)	Y936H	possibly damaging	Het
Hoxa5	A	G	6: 52,181,276 (GRCm39)	Y19H	probably damaging	Het
Ifit2	G	T	19: 34,550,894 (GRCm39)	A145S	probably benign	Het
Impdh2	G	T	9: 108,437,809 (GRCm39)	C26F	probably benign	Het
Kcnh6	T	C	11: 105,911,100 (GRCm39)	Y552H	possibly damaging	Het
Kcnma1	A	T	14: 23,576,691 (GRCm39)	M254K	probably damaging	Het
Klhdc9	A	T	1: 171,188,228 (GRCm39)	M1K	probably null	Het
Klk1b11	A	T	7: 43,648,671 (GRCm39)	D194V	possibly damaging	Het
Lama1	A	G	17: 68,111,540 (GRCm39)	I2264V		Het
Lmntd2	A	G	7: 140,793,554 (GRCm39)	S111P	unknown	Het
Megf8	T	C	7: 25,043,092 (GRCm39)	L1338P	probably damaging	Het
Mipol1	G	A	12: 57,372,321 (GRCm39)	E127K	possibly damaging	Het
Mmp25	A	T	17: 23,863,762 (GRCm39)	C23S	probably benign	Het
Mup8	A	T	4: 60,222,425 (GRCm39)	C15*	probably null	Het
Myh2	A	T	11: 67,079,527 (GRCm39)	T995S	probably benign	Het
Myo1d	C	T	11: 80,483,621 (GRCm39)	V863I	probably benign	Het
N4bp1	A	G	8: 87,587,052 (GRCm39)		probably null	Het
Nat10	G	T	2: 103,563,314 (GRCm39)	P562T	probably damaging	Het
Nedd9	C	G	13: 41,470,280 (GRCm39)	R291P	probably benign	Het
Nlrc3	G	T	16: 3,781,617 (GRCm39)	H613Q	probably benign	Het
Ntn1	A	T	11: 68,276,493 (GRCm39)	C152S	probably damaging	Het
Or2av9	T	A	11: 58,380,571 (GRCm39)	I337F	unknown	Het
Pam	A	T	1: 97,762,203 (GRCm39)	D793E	probably benign	Het
Patz1	T	G	11: 3,258,032 (GRCm39)	V631G	probably benign	Het
Pcdh15	G	A	10: 74,338,597 (GRCm39)	V1068M	probably damaging	Het
Pramel17	A	G	4: 101,694,193 (GRCm39)	V230A	probably benign	Het
Prmt5	A	G	14: 54,752,343 (GRCm39)	F151S	possibly damaging	Het
Pygo2	G	A	3: 89,339,943 (GRCm39)	V114I	probably benign	Het
Rabgap1l	A	T	1: 160,561,156 (GRCm39)	S220R	probably benign	Het
Rdh7	T	G	10: 127,724,218 (GRCm39)	S89R	possibly damaging	Het
Rgsl1	A	C	1: 153,701,966 (GRCm39)	W163G	possibly damaging	Het
Ryr3	T	A	2: 112,492,002 (GRCm39)	N3783I	probably damaging	Het
Shld2	G	A	14: 33,959,525 (GRCm39)	T819I	probably damaging	Het
Slit1	A	G	19: 41,623,105 (GRCm39)	L644P	probably damaging	Het
Steap2	A	G	5: 5,732,896 (GRCm39)	S43P	possibly damaging	Het
Susd1	A	T	4: 59,315,420 (GRCm39)		probably null	Het
Tbc1d9	A	G	8: 83,981,390 (GRCm39)	M686V	probably damaging	Het
Tdrp	G	A	8: 14,024,579 (GRCm39)	R22*	probably null	Het
Tmem245	A	G	4: 56,903,946 (GRCm39)	V598A	possibly damaging	Het
Tnxb	A	G	17: 34,914,994 (GRCm39)	E1994G	probably damaging	Het
Trcg1	T	A	9: 57,155,618 (GRCm39)	V757E	probably benign	Het
Trim10	A	G	17: 37,180,955 (GRCm39)	E62G	possibly damaging	Het
Ushbp1	G	T	8: 71,841,410 (GRCm39)	A473E	possibly damaging	Het
Vmn1r50	A	C	6: 90,084,386 (GRCm39)	K44Q	possibly damaging	Het
Wdr75	A	G	1: 45,838,294 (GRCm39)	N68D	probably damaging	Het
Wdr83	A	G	8: 85,806,453 (GRCm39)	V115A	probably damaging	Het
Zdhhc17	A	G	10: 110,845,809 (GRCm39)	L28P	possibly damaging	Het
Zfp738	C	T	13: 67,818,527 (GRCm39)	C488Y	probably damaging	Het
Zfp987	T	G	4: 146,058,572 (GRCm39)	L50W	probably damaging	Het
Zfyve28	G	T	5: 34,391,753 (GRCm39)	R133S	probably benign	Het
Zscan20	G	T	4: 128,479,469 (GRCm39)	C1007*	probably null	Het

Other mutations in Glis2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Glis2	APN	16	4,429,514 (GRCm39)	missense	probably damaging	1.00
IGL01680:Glis2	APN	16	4,429,195 (GRCm39)	missense	possibly damaging	0.82
IGL02055:Glis2	APN	16	4,431,972 (GRCm39)	unclassified	probably benign
Ginsburg	UTSW	16	4,428,197 (GRCm39)	nonsense	probably null
IGL02802:Glis2	UTSW	16	4,429,735 (GRCm39)	critical splice donor site	probably null
R0081:Glis2	UTSW	16	4,431,517 (GRCm39)	missense	probably benign	0.22
R0517:Glis2	UTSW	16	4,429,416 (GRCm39)	missense	probably damaging	0.98
R2010:Glis2	UTSW	16	4,426,575 (GRCm39)	missense	probably damaging	0.99
R2145:Glis2	UTSW	16	4,431,506 (GRCm39)	missense	possibly damaging	0.79
R3780:Glis2	UTSW	16	4,431,760 (GRCm39)	unclassified	probably benign
R4180:Glis2	UTSW	16	4,429,240 (GRCm39)	missense	probably benign	0.04
R5213:Glis2	UTSW	16	4,431,946 (GRCm39)	unclassified	probably benign
R6012:Glis2	UTSW	16	4,429,172 (GRCm39)	missense	possibly damaging	0.76
R6052:Glis2	UTSW	16	4,431,603 (GRCm39)	unclassified	probably benign
R6214:Glis2	UTSW	16	4,428,197 (GRCm39)	nonsense	probably null
R6215:Glis2	UTSW	16	4,428,197 (GRCm39)	nonsense	probably null
R6316:Glis2	UTSW	16	4,431,700 (GRCm39)	unclassified	probably benign
R7286:Glis2	UTSW	16	4,429,182 (GRCm39)	missense	possibly damaging	0.93
R7346:Glis2	UTSW	16	4,431,432 (GRCm39)	missense	possibly damaging	0.83
R7816:Glis2	UTSW	16	4,431,328 (GRCm39)	missense	probably damaging	1.00
R9097:Glis2	UTSW	16	4,429,640 (GRCm39)	missense	probably damaging	0.99
R9573:Glis2	UTSW	16	4,429,505 (GRCm39)	missense	probably damaging	1.00
X0020:Glis2	UTSW	16	4,426,517 (GRCm39)	missense	probably damaging	1.00
X0027:Glis2	UTSW	16	4,429,321 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTACAGCAAAGGACCTGAAG -3'
(R):5'- ATAGGAGCCACTGTCAGGAGTG -3'

Sequencing Primer
(F):5'- TGGGTCAGCCTGCTTCAG -3'
(R):5'- CACTGTCAGGAGTGGGCAGTG -3'

Posted On

2019-06-26