Mutagenetix > Incidental Mutation

Incidental Mutation 'R1843:Pknox2'

207443

Institutional Source

Beutler Lab

Gene Symbol

Pknox2

Ensembl Gene

ENSMUSG00000035934

Gene Name

Pbx/knotted 1 homeobox 2

Synonyms

D230005H23Rik, Prep2

MMRRC Submission

039868-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

R1843 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36802275-37058638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36866127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 5 (M5K)

Ref Sequence

ENSEMBL: ENSMUSP00000135641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039674] [ENSMUST00000080754] [ENSMUST00000175938] [ENSMUST00000188057] [ENSMUST00000188348] [ENSMUST00000177444] [ENSMUST00000189294] [ENSMUST00000177218]

AlphaFold

Q8BG99

Predicted Effect

probably benign
Transcript: ENSMUST00000039674
AA Change: M30K

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035806
Gene: ENSMUSG00000035934
AA Change: M30K

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: ENSMUST00000080754
AA Change: M30K

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000079578
Gene: ENSMUSG00000035934
AA Change: M30K

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 benign
Transcript: ENSMUST00000176471
AA Change: M30K

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135249
Gene: ENSMUSG00000035934
AA Change: M30K

Domain	Start	End	E-Value	Type
Pfam:Meis_PKNOX_N	96	181	4.6e-42	PFAM
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

noncoding transcript
Transcript: ENSMUST00000176562

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177080

SMART Domains

Protein: ENSMUSP00000135444
Gene: ENSMUSG00000035934

Domain	Start	End	E-Value	Type
HOX	259	324	4.4e-14	SMART
low complexity region	386	395	N/A	INTRINSIC
coiled coil region	399	436	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188057
AA Change: M30K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188348
AA Change: M30K

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177444
AA Change: M5K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000189294
AA Change: M30K

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000177218
AA Change: M30K

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135581
Gene: ENSMUSG00000035934
AA Change: M30K

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	C	T	8: 106,435,606 (GRCm39)	T88M	probably damaging	Het
9430038I01Rik	A	G	7: 136,978,795 (GRCm39)		probably benign	Het
Adgra3	A	C	5: 50,118,834 (GRCm39)	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,692,652 (GRCm39)	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,176 (GRCm39)	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,321,623 (GRCm39)	K360E	probably damaging	Het
Anks1b	T	A	10: 90,348,751 (GRCm39)		probably null	Het
Apob	T	C	12: 8,057,602 (GRCm39)	F2028S	possibly damaging	Het
Arap3	G	A	18: 38,108,636 (GRCm39)	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,651,121 (GRCm39)	Y135H	probably damaging	Het
Armh3	A	C	19: 45,963,691 (GRCm39)	S42R	probably benign	Het
Atp1a1	T	C	3: 101,489,333 (GRCm39)	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,289,255 (GRCm39)	M497L	probably benign	Het
Ces5a	C	T	8: 94,240,859 (GRCm39)	V413M	probably damaging	Het
Chd5	A	T	4: 152,470,263 (GRCm39)	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,737,422 (GRCm39)	N1500K	probably benign	Het
Chmp7	G	T	14: 69,957,248 (GRCm39)	D303E	probably benign	Het
Chrnb4	A	T	9: 54,942,102 (GRCm39)	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,840,802 (GRCm39)	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,865,972 (GRCm39)	I207T	probably benign	Het
Dcp1a	A	G	14: 30,240,940 (GRCm39)	E250G	probably damaging	Het
Ddx20	T	C	3: 105,586,398 (GRCm39)	Q649R	probably benign	Het
Defb12	T	A	8: 19,162,754 (GRCm39)	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,429,185 (GRCm39)	I85N	probably damaging	Het
Duox2	C	T	2: 122,122,739 (GRCm39)		probably null	Het
Ebi3	T	A	17: 56,263,679 (GRCm39)	Y197N	probably damaging	Het
Emc1	G	A	4: 139,102,823 (GRCm39)	R994Q	probably benign	Het
Ercc6	G	T	14: 32,268,777 (GRCm39)	M530I	probably damaging	Het
Evl	T	A	12: 108,619,255 (GRCm39)	D70E	probably damaging	Het
Fbln2	A	G	6: 91,242,757 (GRCm39)	N819S	probably damaging	Het
Foxk2	A	G	11: 121,176,363 (GRCm39)	I170V	probably benign	Het
Gfm1	T	C	3: 67,342,943 (GRCm39)	V159A	probably damaging	Het
Gm10837	A	G	14: 122,728,177 (GRCm39)	T18A	unknown	Het
Gm12887	A	T	4: 121,479,227 (GRCm39)	V25E	probably damaging	Het
Hectd4	A	G	5: 121,435,243 (GRCm39)	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,675,791 (GRCm39)	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,272,878 (GRCm39)	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,923,157 (GRCm39)		probably null	Het
Invs	T	A	4: 48,422,035 (GRCm39)	I889N	probably damaging	Het
Kcnq1	A	T	7: 142,736,857 (GRCm39)	M209L	probably benign	Het
Klra7	A	G	6: 130,206,957 (GRCm39)	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrif1	T	A	3: 106,640,127 (GRCm39)	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,063,034 (GRCm39)		probably null	Het
Lypd6	T	A	2: 50,078,774 (GRCm39)	I90N	possibly damaging	Het
Mbp	A	G	18: 82,602,247 (GRCm39)	D174G	probably damaging	Het
Megf9	G	T	4: 70,453,022 (GRCm39)	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,760,412 (GRCm39)	T1155S	probably benign	Het
Nherf2	C	T	17: 24,860,693 (GRCm39)	S150N	possibly damaging	Het
Nlrp6	T	A	7: 140,503,006 (GRCm39)	C371S	probably damaging	Het
Nosip	T	A	7: 44,726,733 (GRCm39)		probably null	Het
Nox3	G	T	17: 3,720,153 (GRCm39)	P344H	probably damaging	Het
Nup210l	T	C	3: 90,079,393 (GRCm39)	V959A	probably damaging	Het
Or10d1	A	G	9: 39,484,031 (GRCm39)	Y175H	possibly damaging	Het
Or2b2b	C	A	13: 21,858,842 (GRCm39)	V91L	probably benign	Het
Or2k2	T	C	4: 58,785,384 (GRCm39)	I113V	probably benign	Het
Or5b119	A	G	19: 13,457,295 (GRCm39)	I89T	probably benign	Het
Or5k8	T	A	16: 58,644,440 (GRCm39)	I211F	probably damaging	Het
Osbpl3	A	C	6: 50,347,123 (GRCm39)	S25A	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Pax7	G	A	4: 139,511,802 (GRCm39)	R260C	probably damaging	Het
Pbrm1	A	T	14: 30,760,914 (GRCm39)	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,325,278 (GRCm39)		probably null	Het
Pcnx1	T	C	12: 82,027,709 (GRCm39)	L1585P	probably damaging	Het
Pde4c	C	T	8: 71,200,599 (GRCm39)	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pgm1	A	T	4: 99,818,675 (GRCm39)	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,271,235 (GRCm39)	H814R	probably benign	Het
Pole	G	A	5: 110,478,701 (GRCm39)		probably null	Het
Polr1b	A	G	2: 128,944,886 (GRCm39)	I61V	probably benign	Het
Prelp	T	C	1: 133,842,495 (GRCm39)	K217E	probably damaging	Het
Prkce	C	T	17: 86,782,974 (GRCm39)	Q202*	probably null	Het
Psmd2	T	G	16: 20,475,332 (GRCm39)	M370R	probably benign	Het
Rimklb	A	T	6: 122,440,968 (GRCm39)	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,630,420 (GRCm39)	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,426,321 (GRCm39)	M1L	probably benign	Het
Scrn1	A	G	6: 54,499,826 (GRCm39)	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,778,244 (GRCm39)	S461G	probably benign	Het
Serpina1c	T	A	12: 103,861,282 (GRCm39)	T411S	probably benign	Het
Serpinb6d	C	T	13: 33,855,364 (GRCm39)	P346L	probably benign	Het
Shld2	A	G	14: 33,989,760 (GRCm39)	I382T	probably benign	Het
Spg21	G	T	9: 65,372,618 (GRCm39)	V17F	probably damaging	Het
Spink5	A	T	18: 44,132,958 (GRCm39)	M525L	probably benign	Het
Sun2	T	C	15: 79,621,764 (GRCm39)	T155A	probably benign	Het
Tchh	T	A	3: 93,354,087 (GRCm39)	F1176I	unknown	Het
Tex15	T	A	8: 34,066,682 (GRCm39)	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,199,857 (GRCm39)	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,097,143 (GRCm39)	N139S	probably benign	Het
Tns2	C	T	15: 102,021,568 (GRCm39)		probably null	Het
Trim66	T	C	7: 109,075,046 (GRCm39)	E405G	probably damaging	Het
Trpc4	T	A	3: 54,187,415 (GRCm39)	F456I	probably benign	Het
Tspo2	T	C	17: 48,755,818 (GRCm39)	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,032,850 (GRCm39)	C304*	probably null	Het
Vgll4	A	T	6: 114,839,756 (GRCm39)	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,464,732 (GRCm39)	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,818,183 (GRCm39)	S587A	probably benign	Het
Vps4b	C	A	1: 106,706,712 (GRCm39)	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,048,314 (GRCm39)	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010 (GRCm39)	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp764l1	A	C	7: 126,990,660 (GRCm39)	D442E	probably benign	Het
Zswim5	G	T	4: 116,734,896 (GRCm39)	E80D	unknown	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
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
R8677:Pknox2	UTSW	9	36,821,887 (GRCm39)	missense	probably damaging	0.97
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'- GGACTCTCTGATCTGCATCC -3'
(R):5'- CACTCCCTGGTTACTACGTG -3'

Sequencing Primer
(F):5'- TGCATCCTCATATATCAGCTAAGGC -3'
(R):5'- CTCCCTGGTTACTACGTGTTGTTTTG -3'

Posted On

2014-06-23