Mutagenetix > Incidental Mutation

Incidental Mutation 'R8677:Pknox2'

661453

Institutional Source

Beutler Lab

Gene Symbol

Pknox2

Ensembl Gene

ENSMUSG00000035934

Gene Name

Pbx/knotted 1 homeobox 2

Synonyms

D230005H23Rik, Prep2

MMRRC Submission

068532-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

R8677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36802275-37058638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36821887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 246 (P246L)

Ref Sequence

ENSEMBL: ENSMUSP00000035806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039674] [ENSMUST00000080754] [ENSMUST00000175938] [ENSMUST00000177218]

AlphaFold

Q8BG99

Predicted Effect

probably damaging
Transcript: ENSMUST00000039674
AA Change: P246L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035806
Gene: ENSMUSG00000035934
AA Change: P246L

Domain	Start	End	E-Value	Type
HOX	288	353	8.54e-12	SMART
low complexity region	415	424	N/A	INTRINSIC
coiled coil region	428	465	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000080754
AA Change: P246L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079578
Gene: ENSMUSG00000035934
AA Change: P246L

Domain	Start	End	E-Value	Type
HOX	288	353	8.54e-12	SMART
low complexity region	415	424	N/A	INTRINSIC
coiled coil region	428	465	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175938

Predicted Effect

probably damaging
Transcript: ENSMUST00000177218
AA Change: P246L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135581
Gene: ENSMUSG00000035934
AA Change: P246L

Domain	Start	End	E-Value	Type
HOX	288	353	8.54e-12	SMART
low complexity region	415	424	N/A	INTRINSIC
coiled coil region	428	465	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	A	C	8: 106,427,576 (GRCm39)	S25R	probably damaging	Het
Acly	A	T	11: 100,410,569 (GRCm39)	H136Q	probably damaging	Het
Adrm1	C	T	2: 179,813,832 (GRCm39)	T2M	probably benign	Het
Ankrd12	A	T	17: 66,331,209 (GRCm39)	L246M	probably damaging	Het
Bltp2	C	T	11: 78,174,982 (GRCm39)	R1706C	probably damaging	Het
Cacnb3	T	C	15: 98,539,931 (GRCm39)	L258P	probably damaging	Het
Cd36	C	T	5: 18,025,493 (GRCm39)	V76M	probably damaging	Het
Cep120	A	G	18: 53,871,633 (GRCm39)	F80L	possibly damaging	Het
Clcn1	A	T	6: 42,267,519 (GRCm39)		probably null	Het
Col17a1	T	C	19: 47,640,240 (GRCm39)	T1042A	probably benign	Het
Comp	A	T	8: 70,832,910 (GRCm39)	N623Y	probably damaging	Het
Ctnnal1	A	G	4: 56,813,272 (GRCm39)	L653P	probably benign	Het
Cx3cl1	G	T	8: 95,506,443 (GRCm39)	R149S	probably benign	Het
Dbndd2	T	A	2: 164,330,522 (GRCm39)	N58K	probably damaging	Het
Dclk1	A	G	3: 55,409,840 (GRCm39)	I595V	probably damaging	Het
Dhx15	T	C	5: 52,341,886 (GRCm39)	D144G	probably benign	Het
Dlat	T	C	9: 50,570,007 (GRCm39)	E120G	probably damaging	Het
Fam171a1	T	A	2: 3,221,352 (GRCm39)	Y273N	probably damaging	Het
Fndc3b	A	T	3: 27,511,176 (GRCm39)	V778D	probably benign	Het
Grn	T	C	11: 102,324,393 (GRCm39)	S129P	possibly damaging	Het
Grxcr1	T	C	5: 68,267,757 (GRCm39)	F169L	possibly damaging	Het
Hcn2	A	G	10: 79,560,619 (GRCm39)	I317V	probably benign	Het
Heca	T	C	10: 17,791,424 (GRCm39)	N211D	probably benign	Het
Htr1f	T	C	16: 64,746,414 (GRCm39)	T293A	possibly damaging	Het
Ifitm10	T	A	7: 141,909,749 (GRCm39)	I116F	probably benign	Het
Itprid1	A	G	6: 55,849,579 (GRCm39)	H37R	probably benign	Het
Ivl	A	T	3: 92,479,986 (GRCm39)	D26E	probably benign	Het
Kcnma1	T	A	14: 23,436,418 (GRCm39)	E761V	probably benign	Het
Ltbp1	G	T	17: 75,655,753 (GRCm39)	V923F	probably benign	Het
Mfsd4b2	A	T	10: 39,799,805 (GRCm39)	F32L	probably benign	Het
Micu2	T	C	14: 58,161,420 (GRCm39)	R301G	possibly damaging	Het
Miip	C	T	4: 147,947,503 (GRCm39)	C219Y	probably damaging	Het
Mn1	T	A	5: 111,566,885 (GRCm39)	L285*	probably null	Het
Mthfd1l	T	A	10: 3,998,250 (GRCm39)	N664K	possibly damaging	Het
Mttp	A	T	3: 137,810,437 (GRCm39)	H659Q	probably benign	Het
Myadml2	G	A	11: 120,538,815 (GRCm39)	P7S	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nlrp4c	C	T	7: 6,075,644 (GRCm39)	T645I	probably damaging	Het
Notch1	C	T	2: 26,359,936 (GRCm39)	V1260I	probably damaging	Het
Numa1	T	C	7: 101,650,148 (GRCm39)	L1293P	probably damaging	Het
Or1a1	A	T	11: 74,086,415 (GRCm39)	I29F	probably benign	Het
Or56a4	A	G	7: 104,806,775 (GRCm39)	L38P	probably benign	Het
Pcdh12	G	T	18: 38,415,191 (GRCm39)	H645N	probably benign	Het
Pdcd1	A	T	1: 93,968,952 (GRCm39)	L122H	probably damaging	Het
Polr2a	A	T	11: 69,626,381 (GRCm39)	S1590T	possibly damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Proser1	A	G	3: 53,385,122 (GRCm39)	T335A	probably benign	Het
Ptprc	A	G	1: 138,011,335 (GRCm39)	I598T	probably damaging	Het
Rasal3	T	C	17: 32,615,828 (GRCm39)	T337A	probably benign	Het
Rasgrp3	A	T	17: 75,819,055 (GRCm39)	T415S	probably benign	Het
Rbm7	T	A	9: 48,401,273 (GRCm39)	R152*	probably null	Het
Sanbr	T	C	11: 23,545,471 (GRCm39)	D474G	probably benign	Het
Sf3b2	C	T	19: 5,336,257 (GRCm39)	R513H	probably damaging	Het
Slc22a30	A	G	19: 8,364,035 (GRCm39)	S214P	probably benign	Het
Spam1	A	G	6: 24,796,984 (GRCm39)	T312A	probably benign	Het
Ssh2	A	G	11: 77,346,019 (GRCm39)	T1335A	possibly damaging	Het
Tef	T	A	15: 81,699,169 (GRCm39)	L59Q	probably damaging	Het
Tmem131l	A	C	3: 83,836,009 (GRCm39)	V700G	probably damaging	Het
Twsg1	A	G	17: 66,233,402 (GRCm39)	S183P	probably damaging	Het
Unc13c	T	C	9: 73,840,243 (GRCm39)	T203A	probably benign	Het
Uqcc6	G	T	10: 82,456,050 (GRCm39)	T37K	possibly damaging	Het
Vmn2r75	G	T	7: 85,814,410 (GRCm39)	P361Q	possibly damaging	Het
Xirp2	A	T	2: 67,346,978 (GRCm39)	N3073I	probably damaging	Het
Zfp114	A	G	7: 23,880,070 (GRCm39)	N140D	probably benign	Het

Other mutations in Pknox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01894:Pknox2	APN	9	36,835,038 (GRCm39)	missense	probably damaging	1.00
IGL02019:Pknox2	APN	9	36,834,929 (GRCm39)	missense	probably damaging	1.00
IGL02706:Pknox2	APN	9	36,847,675 (GRCm39)	missense	probably benign	0.18
IGL03018:Pknox2	APN	9	36,865,993 (GRCm39)	missense	probably damaging	1.00
IGL03374:Pknox2	APN	9	36,834,966 (GRCm39)	missense	probably damaging	0.98
PIT4494001:Pknox2	UTSW	9	36,865,987 (GRCm39)	critical splice donor site	probably null
R0585:Pknox2	UTSW	9	36,821,056 (GRCm39)	splice site	probably benign
R1786:Pknox2	UTSW	9	36,820,980 (GRCm39)	missense	probably damaging	1.00
R1843:Pknox2	UTSW	9	36,866,127 (GRCm39)	missense	possibly damaging	0.77
R1861:Pknox2	UTSW	9	36,834,957 (GRCm39)	missense	probably damaging	1.00
R2252:Pknox2	UTSW	9	36,821,816 (GRCm39)	missense	probably benign	0.12
R2696:Pknox2	UTSW	9	36,820,987 (GRCm39)	nonsense	probably null
R2843:Pknox2	UTSW	9	36,805,624 (GRCm39)	missense	probably benign	0.00
R4576:Pknox2	UTSW	9	36,834,844 (GRCm39)	intron	probably benign
R4632:Pknox2	UTSW	9	36,805,709 (GRCm39)	missense	probably benign	0.00
R4705:Pknox2	UTSW	9	36,834,934 (GRCm39)	missense	possibly damaging	0.92
R4754:Pknox2	UTSW	9	36,821,016 (GRCm39)	missense	probably damaging	0.98
R5974:Pknox2	UTSW	9	36,847,618 (GRCm39)	missense	probably damaging	1.00
R5984:Pknox2	UTSW	9	36,835,022 (GRCm39)	missense	probably damaging	1.00
R7014:Pknox2	UTSW	9	36,820,963 (GRCm39)	missense	probably damaging	1.00
R7387:Pknox2	UTSW	9	36,868,364 (GRCm39)	intron	probably benign
R7488:Pknox2	UTSW	9	36,866,127 (GRCm39)	missense	probably benign	0.26
R7769:Pknox2	UTSW	9	36,806,602 (GRCm39)	splice site	probably null
R8221:Pknox2	UTSW	9	36,821,040 (GRCm39)	missense	possibly damaging	0.86
R8296:Pknox2	UTSW	9	36,822,459 (GRCm39)	missense	probably benign	0.31
R8470:Pknox2	UTSW	9	36,834,986 (GRCm39)	missense	probably damaging	1.00
R8906:Pknox2	UTSW	9	36,804,167 (GRCm39)	missense	possibly damaging	0.82
R9026:Pknox2	UTSW	9	36,821,044 (GRCm39)	missense	possibly damaging	0.84
R9401:Pknox2	UTSW	9	36,835,041 (GRCm39)	missense	probably damaging	1.00
R9468:Pknox2	UTSW	9	36,822,495 (GRCm39)	missense	probably benign	0.00
R9565:Pknox2	UTSW	9	36,835,067 (GRCm39)	missense	probably damaging	1.00
R9582:Pknox2	UTSW	9	36,804,252 (GRCm39)	missense	probably damaging	0.97
RF016:Pknox2	UTSW	9	36,820,905 (GRCm39)	critical splice donor site	probably benign
RF061:Pknox2	UTSW	9	36,820,905 (GRCm39)	critical splice donor site	probably benign
X0063:Pknox2	UTSW	9	36,835,065 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATCCAGCTTCCTGTCCAGAG -3'
(R):5'- AGCAGACATACATTCTGCTACTACC -3'

Sequencing Primer
(F):5'- TCCAGAGAGCGGTGTCTTAGAG -3'
(R):5'- CCCAAGAGTCTTCACATGAGAGTG -3'

Posted On

2021-03-08