Mutagenetix > Incidental Mutation

Incidental Mutation 'R5661:Gli2'

444064

Institutional Source

Beutler Lab

Gene Symbol

Gli2

Ensembl Gene

ENSMUSG00000048402

Gene Name

GLI-Kruppel family member GLI2

Synonyms

MMRRC Submission

043304-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5661 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118761862-118981349 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 118781032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 238 (E238*)

Ref Sequence

ENSEMBL: ENSMUSP00000123808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062483] [ENSMUST00000159839] [ENSMUST00000160991] [ENSMUST00000161056] [ENSMUST00000161301] [ENSMUST00000161451] [ENSMUST00000162552] [ENSMUST00000162607]

AlphaFold

Q0VGT2

Predicted Effect

probably null
Transcript: ENSMUST00000062483
AA Change: E377*

SMART Domains

Protein: ENSMUSP00000054837
Gene: ENSMUSG00000048402
AA Change: E377*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159839

SMART Domains

Protein: ENSMUSP00000125661
Gene: ENSMUSG00000048402

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	36	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160991

Predicted Effect

probably benign
Transcript: ENSMUST00000161056

SMART Domains

Protein: ENSMUSP00000124768
Gene: ENSMUSG00000048402

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	36	43	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000161301
AA Change: E414*

SMART Domains

Protein: ENSMUSP00000125342
Gene: ENSMUSG00000048402
AA Change: E414*

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	58	72	N/A	INTRINSIC
low complexity region	296	315	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000161451
AA Change: E212*

SMART Domains

Protein: ENSMUSP00000124132
Gene: ENSMUSG00000048402
AA Change: E212*

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	94	113	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162552

SMART Domains

Protein: ENSMUSP00000125059
Gene: ENSMUSG00000048402

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	36	43	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000162607
AA Change: E238*

SMART Domains

Protein: ENSMUSP00000123808
Gene: ENSMUSG00000048402
AA Change: E238*

Domain	Start	End	E-Value	Type
low complexity region	120	139	N/A	INTRINSIC

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (57/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	A	G	6: 83,497,754 (GRCm39)	I166T	probably damaging	Het
Actn1	T	C	12: 80,231,618 (GRCm39)	E273G	probably benign	Het
Arhgap15	G	A	2: 44,212,739 (GRCm39)	R403H	possibly damaging	Het
Arhgef26	T	C	3: 62,285,075 (GRCm39)		probably benign	Het
Avl9	A	T	6: 56,702,087 (GRCm39)	R81*	probably null	Het
Brd3	G	A	2: 27,351,584 (GRCm39)	T223I	possibly damaging	Het
Cacna2d4	T	C	6: 119,320,492 (GRCm39)	M890T	probably benign	Het
Carm1	A	G	9: 21,498,295 (GRCm39)	D433G	probably benign	Het
Ccdc40	A	G	11: 119,128,753 (GRCm39)	K427E	probably benign	Het
Ccdc80	T	C	16: 44,947,808 (GRCm39)	Y929H	probably damaging	Het
Ccr9	A	C	9: 123,609,164 (GRCm39)	Y282S	probably benign	Het
Det1	C	T	7: 78,492,958 (GRCm39)	E349K	probably damaging	Het
Enpep	T	A	3: 129,070,406 (GRCm39)	N834Y	probably damaging	Het
Epha7	A	T	4: 28,946,217 (GRCm39)		probably null	Het
Fap	A	T	2: 62,367,307 (GRCm39)		probably benign	Het
Foxn4	A	G	5: 114,411,053 (GRCm39)	C23R	probably benign	Het
Gad1-ps	T	C	10: 99,280,901 (GRCm39)		noncoding transcript	Het
Gm20939	C	A	17: 95,183,207 (GRCm39)	H148N	probably damaging	Het
Gnl1	T	C	17: 36,293,447 (GRCm39)	Y211H	probably benign	Het
Gpat3	A	T	5: 101,033,808 (GRCm39)	K221*	probably null	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Hnrnph1	A	T	11: 50,275,507 (GRCm39)	Q415L	probably benign	Het
Kansl3	T	C	1: 36,388,038 (GRCm39)	E383G	possibly damaging	Het
Kdm5b	T	C	1: 134,526,811 (GRCm39)	V311A	probably benign	Het
Lipk	T	A	19: 34,009,727 (GRCm39)	M215K	probably benign	Het
Madd	A	G	2: 90,984,778 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,700,744 (GRCm39)	E88G	possibly damaging	Het
Mis18bp1	A	T	12: 65,195,626 (GRCm39)	S713T	probably benign	Het
Mocos	T	A	18: 24,799,052 (GRCm39)		probably null	Het
Msto1	T	A	3: 88,820,192 (GRCm39)	D88V	possibly damaging	Het
Myo5a	A	G	9: 75,074,488 (GRCm39)	Y799C	probably benign	Het
Nectin4	T	A	1: 171,212,738 (GRCm39)	L357H	probably damaging	Het
Or4p22	G	A	2: 88,317,441 (GRCm39)	V122M	probably damaging	Het
Or6c2	A	T	10: 129,362,618 (GRCm39)	H174L	probably benign	Het
Pax2	A	G	19: 44,779,161 (GRCm39)	N179S	probably damaging	Het
Pcdhac2	C	A	18: 37,278,499 (GRCm39)	T493K	probably damaging	Het
Pgk2	G	T	17: 40,518,287 (GRCm39)	C380*	probably null	Het
Pi4k2b	G	A	5: 52,900,906 (GRCm39)		probably null	Het
Plcb3	A	G	19: 6,940,588 (GRCm39)	V416A	probably damaging	Het
Pom121l2	G	A	13: 22,168,425 (GRCm39)	G899R	possibly damaging	Het
Ppp4r1	T	C	17: 66,110,963 (GRCm39)		probably null	Het
Prkdc	G	A	16: 15,628,634 (GRCm39)	E3460K	possibly damaging	Het
Psmb3	A	G	11: 97,597,659 (GRCm39)	E75G	possibly damaging	Het
Retnlb	C	T	16: 48,638,429 (GRCm39)	T50I	probably benign	Het
Sec16a	A	G	2: 26,329,649 (GRCm39)	S789P	probably benign	Het
Sec24d	C	T	3: 123,136,734 (GRCm39)	T489I	probably damaging	Het
Sec24d	T	C	3: 123,136,791 (GRCm39)	M508T	possibly damaging	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Terf1	T	A	1: 15,889,888 (GRCm39)	V221E	probably damaging	Het
Trak1	A	G	9: 121,272,703 (GRCm39)	N187S	possibly damaging	Het
Trappc11	T	A	8: 47,965,642 (GRCm39)	D528V	probably damaging	Het
Tut4	A	G	4: 108,370,384 (GRCm39)	D761G	probably benign	Het
Vmn1r170	A	G	7: 23,306,231 (GRCm39)	N211S	possibly damaging	Het
Zfpm2	G	A	15: 40,959,467 (GRCm39)	W50*	probably null	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
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
R9496:Gli2	UTSW	1	118,764,425 (GRCm39)	missense	probably benign	0.00
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'- AGATGGCCATCAATCCACTTAC -3'
(R):5'- TGTGAGTAAACTGTAGAGCCAC -3'

Sequencing Primer
(F):5'- CTTGTATGAAGGCATGCATCC -3'
(R):5'- GAGCCACAGCCCATGGAATTTG -3'

Posted On

2016-11-09