Mutagenetix > Incidental Mutation

Incidental Mutation 'R9496:Gli2'

717202

Institutional Source

Beutler Lab

Gene Symbol

Gli2

Ensembl Gene

ENSMUSG00000048402

Gene Name

GLI-Kruppel family member GLI2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9496 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118761862-118981349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118764425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1242 (V1242A)

Ref Sequence

ENSEMBL: ENSMUSP00000054837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062483]

AlphaFold

Q0VGT2

Predicted Effect

probably benign
Transcript: ENSMUST00000062483
AA Change: V1242A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: V1242A

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	36	43	N/A	INTRINSIC
low complexity region	259	278	N/A	INTRINSIC
ZnF_C2H2	417	442	4.98e-1	SMART
ZnF_C2H2	450	477	6.57e0	SMART
ZnF_C2H2	483	507	2.09e-3	SMART
ZnF_C2H2	513	538	4.17e-3	SMART
ZnF_C2H2	544	569	1.84e-4	SMART
low complexity region	637	657	N/A	INTRINSIC
low complexity region	876	890	N/A	INTRINSIC
low complexity region	930	945	N/A	INTRINSIC
low complexity region	1035	1053	N/A	INTRINSIC
low complexity region	1428	1435	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2a	A	T	19: 6,310,022 (GRCm39)	Q1735L	possibly damaging	Het
Brpf3	A	G	17: 29,040,453 (GRCm39)	D958G	probably benign	Het
Cacna1g	A	G	11: 94,356,711 (GRCm39)	F142L	probably benign	Het
Calcoco1	C	T	15: 102,619,876 (GRCm39)	A303T	probably benign	Het
Chat	C	A	14: 32,148,119 (GRCm39)	C306F	probably benign	Het
Ciita	T	G	16: 10,298,009 (GRCm39)	M1R	probably null	Het
Ckap2l	A	C	2: 129,112,595 (GRCm39)	S638A	probably benign	Het
Coro1c	C	T	5: 113,983,337 (GRCm39)	G397D	probably benign	Het
Cyb5r2	A	G	7: 107,353,954 (GRCm39)	V72A	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dcbld2	A	G	16: 58,271,164 (GRCm39)	T314A	probably benign	Het
Dcun1d4	T	G	5: 73,668,272 (GRCm39)	H37Q	probably damaging	Het
Dgkd	T	A	1: 87,857,464 (GRCm39)	S725R	probably benign	Het
Dhx29	T	C	13: 113,089,460 (GRCm39)	Y744H	probably damaging	Het
Ect2l	T	C	10: 18,004,885 (GRCm39)	N916S	probably damaging	Het
Ep400	T	C	5: 110,855,853 (GRCm39)	K1287E	unknown	Het
Epo	C	T	5: 137,482,401 (GRCm39)	V89I	probably benign	Het
Fbxw15	A	T	9: 109,397,291 (GRCm39)	I3N	probably benign	Het
Fcgr3	A	C	1: 170,879,386 (GRCm39)	Y219D	possibly damaging	Het
Fign	A	T	2: 63,809,253 (GRCm39)	C672*	probably null	Het
Fsip2	A	T	2: 82,793,062 (GRCm39)	R406S	probably benign	Het
Gm10577	C	T	4: 100,877,745 (GRCm39)	C50Y	unknown	Het
Gm11568	GCTGCTGCCAGCCCTGCTGCCAGCCC	GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC	11: 99,749,044 (GRCm39)		probably benign	Het
Grid1	T	C	14: 35,291,571 (GRCm39)	L826P	probably damaging	Het
Hmcn1	T	C	1: 150,579,971 (GRCm39)	D1922G	probably benign	Het
Itga2b	C	T	11: 102,358,629 (GRCm39)	C96Y	probably damaging	Het
Itih2	A	T	2: 10,106,984 (GRCm39)	I670N	probably benign	Het
Lypla1	A	T	1: 4,898,813 (GRCm39)		probably benign	Het
Mettl16	T	C	11: 74,707,696 (GRCm39)	S337P	possibly damaging	Het
Myh11	G	A	16: 14,048,616 (GRCm39)	Q564*	probably null	Het
Myrf	A	G	19: 10,193,840 (GRCm39)	F529L	probably benign	Het
Nell2	T	G	15: 95,194,097 (GRCm39)	I539L	probably benign	Het
Nfxl1	A	T	5: 72,685,502 (GRCm39)	V646E	possibly damaging	Het
Nin	T	C	12: 70,102,762 (GRCm39)	T289A		Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Otog	T	C	7: 45,890,505 (GRCm39)	L18P	unknown	Het
Pkd1l1	C	A	11: 8,783,773 (GRCm39)		probably null	Het
Pum1	T	C	4: 130,446,664 (GRCm39)		probably null	Het
Rhbdl1	A	T	17: 26,055,371 (GRCm39)		probably null	Het
Rmdn2	T	A	17: 79,975,425 (GRCm39)	L305I	possibly damaging	Het
Scn3a	A	G	2: 65,312,493 (GRCm39)		probably null	Het
Shtn1	G	T	19: 58,963,457 (GRCm39)	S619R	probably damaging	Het
Smpd1	G	A	7: 105,205,202 (GRCm39)		probably null	Het
Tepsin	A	G	11: 119,982,357 (GRCm39)	L571S	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tssk5	T	C	15: 76,258,856 (GRCm39)	D10G	probably benign	Het
Usp39	A	G	6: 72,302,759 (GRCm39)	Y432H	probably benign	Het
Vmn2r97	T	A	17: 19,149,227 (GRCm39)	V205D	probably damaging	Het
Vwa8	T	C	14: 79,258,122 (GRCm39)	V757A	probably benign	Het
Zc2hc1b	A	T	10: 13,044,540 (GRCm39)	F41Y	probably damaging	Het
Zfp1007	A	G	5: 109,823,924 (GRCm39)	S509P	probably damaging	Het
Zfp114	A	T	7: 23,880,463 (GRCm39)	S271C	possibly damaging	Het

Other mutations in Gli2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Gli2	APN	1	118,764,621 (GRCm39)	missense	probably benign
IGL01686:Gli2	APN	1	118,776,165 (GRCm39)	missense	probably damaging	1.00
IGL01925:Gli2	APN	1	118,781,106 (GRCm39)	missense	probably damaging	1.00
IGL02106:Gli2	APN	1	118,764,465 (GRCm39)	missense	probably benign
IGL02202:Gli2	APN	1	118,764,596 (GRCm39)	missense	probably damaging	0.96
IGL02255:Gli2	APN	1	118,772,079 (GRCm39)	critical splice donor site	probably null
IGL02437:Gli2	APN	1	118,763,733 (GRCm39)	missense	probably damaging	1.00
IGL02615:Gli2	APN	1	118,772,128 (GRCm39)	missense	probably damaging	1.00
IGL02817:Gli2	APN	1	118,764,101 (GRCm39)	missense	possibly damaging	0.55
IGL03294:Gli2	APN	1	118,765,166 (GRCm39)	missense	probably benign
fairyfly	UTSW	1	118,768,220 (GRCm39)	missense	possibly damaging	0.93
flea	UTSW	1	118,763,655 (GRCm39)	missense	probably damaging	0.99
patu_digua	UTSW	1	118,765,236 (GRCm39)	missense	probably damaging	1.00
BB006:Gli2	UTSW	1	118,769,772 (GRCm39)	missense	possibly damaging	0.88
BB016:Gli2	UTSW	1	118,769,772 (GRCm39)	missense	possibly damaging	0.88
R0055:Gli2	UTSW	1	118,818,138 (GRCm39)	intron	probably benign
R0055:Gli2	UTSW	1	118,818,138 (GRCm39)	intron	probably benign
R0164:Gli2	UTSW	1	118,818,013 (GRCm39)	intron	probably benign
R0233:Gli2	UTSW	1	118,763,655 (GRCm39)	missense	probably damaging	0.99
R0233:Gli2	UTSW	1	118,763,655 (GRCm39)	missense	probably damaging	0.99
R0308:Gli2	UTSW	1	118,769,792 (GRCm39)	missense	probably benign	0.00
R0418:Gli2	UTSW	1	118,768,220 (GRCm39)	missense	possibly damaging	0.93
R0558:Gli2	UTSW	1	118,765,379 (GRCm39)	missense	probably benign	0.01
R0600:Gli2	UTSW	1	118,768,119 (GRCm39)	missense	probably damaging	1.00
R0630:Gli2	UTSW	1	118,769,648 (GRCm39)	missense	possibly damaging	0.52
R0690:Gli2	UTSW	1	118,772,190 (GRCm39)	missense	probably damaging	1.00
R0942:Gli2	UTSW	1	118,765,236 (GRCm39)	missense	probably damaging	1.00
R1061:Gli2	UTSW	1	118,782,247 (GRCm39)	missense	possibly damaging	0.71
R1104:Gli2	UTSW	1	118,781,080 (GRCm39)	missense	probably damaging	1.00
R1141:Gli2	UTSW	1	118,765,667 (GRCm39)	missense	possibly damaging	0.71
R1344:Gli2	UTSW	1	118,769,666 (GRCm39)	missense	probably damaging	0.98
R1418:Gli2	UTSW	1	118,769,666 (GRCm39)	missense	probably damaging	0.98
R1565:Gli2	UTSW	1	118,769,660 (GRCm39)	missense	possibly damaging	0.57
R1605:Gli2	UTSW	1	118,782,290 (GRCm39)	missense	probably damaging	1.00
R1640:Gli2	UTSW	1	118,764,254 (GRCm39)	missense	possibly damaging	0.83
R1728:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1728:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1729:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1729:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1730:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1730:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1739:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1739:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1762:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1762:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1783:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1783:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1785:Gli2	UTSW	1	118,929,774 (GRCm39)	missense	probably benign	0.00
R1785:Gli2	UTSW	1	118,795,817 (GRCm39)	missense	possibly damaging	0.68
R1874:Gli2	UTSW	1	118,929,779 (GRCm39)	missense	possibly damaging	0.83
R1969:Gli2	UTSW	1	118,765,430 (GRCm39)	missense	probably benign	0.00
R2199:Gli2	UTSW	1	118,765,378 (GRCm39)	missense	possibly damaging	0.95
R2377:Gli2	UTSW	1	118,764,855 (GRCm39)	missense	possibly damaging	0.90
R2883:Gli2	UTSW	1	118,795,874 (GRCm39)	missense	probably damaging	0.97
R2924:Gli2	UTSW	1	118,764,089 (GRCm39)	missense	probably benign	0.00
R4363:Gli2	UTSW	1	118,781,100 (GRCm39)	missense	probably benign	0.00
R4430:Gli2	UTSW	1	118,764,974 (GRCm39)	missense	probably benign
R4463:Gli2	UTSW	1	118,763,738 (GRCm39)	missense	probably damaging	1.00
R4583:Gli2	UTSW	1	118,769,798 (GRCm39)	missense	probably benign
R4613:Gli2	UTSW	1	118,765,241 (GRCm39)	missense	probably damaging	1.00
R4674:Gli2	UTSW	1	118,763,759 (GRCm39)	missense	probably damaging	1.00
R4735:Gli2	UTSW	1	118,768,052 (GRCm39)	missense	probably damaging	1.00
R4770:Gli2	UTSW	1	118,910,318 (GRCm39)	intron	probably benign
R4936:Gli2	UTSW	1	118,763,870 (GRCm39)	missense	probably benign
R5137:Gli2	UTSW	1	118,783,233 (GRCm39)	missense	probably damaging	1.00
R5228:Gli2	UTSW	1	118,763,936 (GRCm39)	missense	probably damaging	1.00
R5318:Gli2	UTSW	1	118,772,200 (GRCm39)	missense	probably damaging	1.00
R5619:Gli2	UTSW	1	118,764,485 (GRCm39)	missense	probably benign	0.27
R5661:Gli2	UTSW	1	118,781,032 (GRCm39)	nonsense	probably null
R6005:Gli2	UTSW	1	118,769,794 (GRCm39)	missense	probably damaging	1.00
R6012:Gli2	UTSW	1	118,765,445 (GRCm39)	missense	probably damaging	0.99
R6341:Gli2	UTSW	1	118,763,954 (GRCm39)	missense	probably damaging	1.00
R6357:Gli2	UTSW	1	118,769,689 (GRCm39)	missense	probably damaging	1.00
R6425:Gli2	UTSW	1	118,763,624 (GRCm39)	nonsense	probably null
R6513:Gli2	UTSW	1	118,783,284 (GRCm39)	missense	probably damaging	1.00
R6802:Gli2	UTSW	1	118,769,795 (GRCm39)	missense	probably damaging	1.00
R6889:Gli2	UTSW	1	118,772,146 (GRCm39)	missense	probably damaging	1.00
R7259:Gli2	UTSW	1	118,764,264 (GRCm39)	missense	probably benign
R7378:Gli2	UTSW	1	118,776,222 (GRCm39)	missense	probably damaging	1.00
R7420:Gli2	UTSW	1	118,763,669 (GRCm39)	missense	probably benign	0.00
R7489:Gli2	UTSW	1	118,765,905 (GRCm39)	missense	probably benign	0.00
R7498:Gli2	UTSW	1	118,763,565 (GRCm39)	missense	possibly damaging	0.89
R7929:Gli2	UTSW	1	118,769,772 (GRCm39)	missense	possibly damaging	0.88
R8032:Gli2	UTSW	1	118,763,900 (GRCm39)	missense	probably damaging	0.98
R8150:Gli2	UTSW	1	118,763,558 (GRCm39)	missense	probably damaging	0.99
R8233:Gli2	UTSW	1	118,772,167 (GRCm39)	missense	probably damaging	1.00
R8282:Gli2	UTSW	1	118,765,701 (GRCm39)	missense	probably damaging	1.00
R8312:Gli2	UTSW	1	118,795,842 (GRCm39)	intron	probably benign
R8686:Gli2	UTSW	1	118,764,417 (GRCm39)	missense	probably benign
R8698:Gli2	UTSW	1	118,769,887 (GRCm39)	missense	probably damaging	1.00
R8935:Gli2	UTSW	1	118,764,122 (GRCm39)	missense	probably damaging	1.00
R8938:Gli2	UTSW	1	118,763,935 (GRCm39)	missense	probably damaging	1.00
R8955:Gli2	UTSW	1	118,783,187 (GRCm39)	missense	probably damaging	1.00
R9214:Gli2	UTSW	1	118,795,791 (GRCm39)	missense	probably damaging	1.00
R9232:Gli2	UTSW	1	118,764,021 (GRCm39)	missense	probably benign	0.00
R9295:Gli2	UTSW	1	118,764,996 (GRCm39)	missense	probably damaging	1.00
R9369:Gli2	UTSW	1	118,765,885 (GRCm39)	missense	probably benign	0.04
R9757:Gli2	UTSW	1	118,773,652 (GRCm39)	missense	probably damaging	1.00
X0028:Gli2	UTSW	1	118,765,007 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGGGTGAGGTTGTGACAC -3'
(R):5'- TTTGGCCAGTATCCAGGATATAATC -3'

Sequencing Primer
(F):5'- TGAGGTTGTGACACCGCAG -3'
(R):5'- AATCCGTGCAGAGCAGCTC -3'

Posted On

2022-07-18