Mutagenetix > Incidental Mutation

Incidental Mutation 'R9573:Glis2'

722142

Institutional Source

Beutler Lab

Gene Symbol

Glis2

Ensembl Gene

ENSMUSG00000014303

Gene Name

GLIS family zinc finger 2

Synonyms

Nkl

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R9573 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4412577-4442788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4429505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 211 (R211C)

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 damaging
Transcript: ENSMUST00000014447
AA Change: R211C

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

SMART Domains

Protein: ENSMUSP00000014447
Gene: ENSMUSG00000014303
AA Change: R211C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,050,229 (GRCm39)	V472E	probably damaging	Het
Ak3	T	C	19: 29,003,667 (GRCm39)	I170V	probably benign	Het
Ank3	T	A	10: 69,791,977 (GRCm39)	L1058*	probably null	Het
Ankrd60	A	G	2: 173,410,791 (GRCm39)	V243A	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arid3c	T	G	4: 41,726,003 (GRCm39)	E200A	probably benign	Het
Astn2	T	G	4: 65,566,591 (GRCm39)	I856L	probably benign	Het
Bcs1l	C	A	1: 74,629,492 (GRCm39)	R177S	probably damaging	Het
Bin2	A	T	15: 100,560,433 (GRCm39)	F43I	probably damaging	Het
Braf	A	G	6: 39,600,544 (GRCm39)	L691P	probably damaging	Het
Bud23	C	T	5: 135,082,274 (GRCm39)	V266I	possibly damaging	Het
Casp12	A	T	9: 5,354,629 (GRCm39)	I333L	probably benign	Het
Cavin2	T	A	1: 51,328,795 (GRCm39)	I84N	probably damaging	Het
Ccdc168	A	C	1: 44,095,307 (GRCm39)	Y1930*	probably null	Het
Ccdc196	A	T	12: 78,244,098 (GRCm39)	N17I		Het
Cep170b	T	A	12: 112,691,154 (GRCm39)	F24I	probably damaging	Het
Chd9	A	G	8: 91,704,302 (GRCm39)	Y719C	unknown	Het
Commd7	A	G	2: 153,463,981 (GRCm39)	M137T	probably damaging	Het
Dmbt1	G	A	7: 130,657,910 (GRCm39)		probably null	Het
Dnah12	A	C	14: 26,414,619 (GRCm39)	T7P	probably benign	Het
Elapor1	A	T	3: 108,373,094 (GRCm39)	I548N	probably damaging	Het
Endod1	A	T	9: 14,292,247 (GRCm39)	L7Q	probably damaging	Het
Galnt14	C	T	17: 73,802,662 (GRCm39)	V477M	probably damaging	Het
Gm4744	A	T	6: 40,925,497 (GRCm39)	V122D		Het
Gm4952	G	A	19: 12,604,090 (GRCm39)	M167I	probably benign	Het
Hyal4	T	C	6: 24,756,508 (GRCm39)	V242A	possibly damaging	Het
Ift122	T	G	6: 115,857,646 (GRCm39)	S131A	probably benign	Het
Il4ra	T	A	7: 125,169,158 (GRCm39)	S137T	possibly damaging	Het
Lcor	T	A	19: 41,573,471 (GRCm39)	L742Q	probably damaging	Het
Lpin2	A	G	17: 71,538,185 (GRCm39)	K315R	probably benign	Het
Map3k6	T	C	4: 132,979,774 (GRCm39)	Y1258H	probably damaging	Het
Mapk9	A	T	11: 49,769,239 (GRCm39)	K290N	probably damaging	Het
Mfhas1	C	T	8: 36,143,903 (GRCm39)	H1045Y	possibly damaging	Het
Ndufaf7	C	A	17: 79,246,036 (GRCm39)	Q90K	probably damaging	Het
Nlrc3	A	T	16: 3,771,841 (GRCm39)	V157E	probably benign	Het
Npas4	A	G	19: 5,035,837 (GRCm39)	F776L	probably benign	Het
Nuggc	A	C	14: 65,848,603 (GRCm39)	D184A	probably benign	Het
Ogdhl	A	G	14: 32,066,678 (GRCm39)	E795G	probably damaging	Het
Or5a1	A	G	19: 12,097,509 (GRCm39)	I189T	probably damaging	Het
Or9a2	T	G	6: 41,748,940 (GRCm39)	I98L	probably benign	Het
Pcbp1	A	T	6: 86,502,677 (GRCm39)	M74K	possibly damaging	Het
Plk4	A	G	3: 40,763,257 (GRCm39)	D476G	probably benign	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Rab44	A	T	17: 29,364,277 (GRCm39)	Y617F	unknown	Het
Rabepk	T	C	2: 34,675,627 (GRCm39)	R168G	probably benign	Het
Rbmyf9	T	A	Y: 3,775,370 (GRCm39)	M40K	possibly damaging	Het
Rif1	T	G	2: 52,000,466 (GRCm39)	S1307A	probably benign	Het
Ror2	C	T	13: 53,265,467 (GRCm39)	V542I	probably benign	Het
Rtp1	A	G	16: 23,250,159 (GRCm39)	I175V	possibly damaging	Het
Slc11a2	T	A	15: 100,304,225 (GRCm39)	I158F	probably damaging	Het
Slc24a3	T	G	2: 145,455,548 (GRCm39)	M479R	probably damaging	Het
Slc4a9	T	C	18: 36,668,589 (GRCm39)	F723S	probably damaging	Het
Syne2	C	A	12: 75,927,134 (GRCm39)	N93K	probably damaging	Het
Sytl2	A	G	7: 90,057,599 (GRCm39)	Q846R	probably damaging	Het
Tas2r116	A	C	6: 132,833,140 (GRCm39)	H247P	probably benign	Het
Tcstv3	T	C	13: 120,779,130 (GRCm39)	S10P	probably damaging	Het
Tgm7	T	C	2: 120,934,606 (GRCm39)	N124S	probably benign	Het
Tmem219	A	T	7: 126,490,933 (GRCm39)	Y175N	probably damaging	Het
Tnfrsf18	G	A	4: 156,112,484 (GRCm39)	G114S	possibly damaging	Het
Trim38	G	A	13: 23,966,688 (GRCm39)	C45Y	probably benign	Het
Tshz1	T	C	18: 84,032,404 (GRCm39)	E668G	probably benign	Het
Ubr4	T	A	4: 139,148,450 (GRCm39)	M382K		Het
Vps39	T	C	2: 120,155,179 (GRCm39)	E549G	possibly damaging	Het
Wdr35	G	A	12: 9,078,014 (GRCm39)	G1135D	probably benign	Het
Zbtb46	A	G	2: 181,053,548 (GRCm39)	L388P	probably benign	Het
Zdhhc25	T	A	15: 88,485,307 (GRCm39)	M214K	probably damaging	Het
Zfp735	G	A	11: 73,602,936 (GRCm39)	E627K	possibly damaging	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
R7172:Glis2	UTSW	16	4,431,339 (GRCm39)	missense	probably benign	0.32
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
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'- AAGCAGCTGGTGTGTCGATG -3'
(R):5'- CGGGAGAAGCTCTTGTTACAG -3'

Sequencing Primer
(F):5'- GTCGATGGGCCAAGGTG -3'
(R):5'- AGAAGCTCTTGTTACAGGTGGG -3'

Posted On

2022-08-09