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?

Probably essential (E-score: 0.757) question?

Stock #

R1843 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36890982-37147407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36954831 bp (GRCm38)

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] [ENSMUST00000177218] [ENSMUST00000177444] [ENSMUST00000188057] [ENSMUST00000188348] [ENSMUST00000189294]

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

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177444
AA Change: M5K

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

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

probably benign
Transcript: ENSMUST00000189294
AA Change: M30K

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

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: 105,708,974	T88M	probably damaging	Het
9130011E15Rik	A	C	19: 45,975,252	S42R	probably benign	Het
9430038I01Rik	A	G	7: 137,377,066		probably benign	Het
Adgra3	A	C	5: 49,961,492	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,544,533	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,314	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,271,595	K360E	probably damaging	Het
Anks1b	T	A	10: 90,512,889		probably null	Het
Apob	T	C	12: 8,007,602	F2028S	possibly damaging	Het
Arap3	G	A	18: 37,975,583	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,518,050	Y135H	probably damaging	Het
Atp1a1	T	C	3: 101,582,017	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,322,821	M497L	probably benign	Het
Ces5a	C	T	8: 93,514,231	V413M	probably damaging	Het
Chd5	A	T	4: 152,385,806	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,010,794	N1500K	probably benign	Het
Chmp7	G	T	14: 69,719,799	D303E	probably benign	Het
Chrnb4	A	T	9: 55,034,818	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,388,152	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,877,528	I207T	probably benign	Het
Dcp1a	A	G	14: 30,518,983	E250G	probably damaging	Het
Ddx20	T	C	3: 105,679,082	Q649R	probably benign	Het
Defb12	T	A	8: 19,112,738	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,729,760	I85N	probably damaging	Het
Duox2	C	T	2: 122,292,258		probably null	Het
E430018J23Rik	A	C	7: 127,391,488	D442E	probably benign	Het
Ebi3	T	A	17: 55,956,679	Y197N	probably damaging	Het
Emc1	G	A	4: 139,375,512	R994Q	probably benign	Het
Ercc6	G	T	14: 32,546,820	M530I	probably damaging	Het
Evl	T	A	12: 108,652,996	D70E	probably damaging	Het
Fam35a	A	G	14: 34,267,803	I382T	probably benign	Het
Fbln2	A	G	6: 91,265,775	N819S	probably damaging	Het
Foxk2	A	G	11: 121,285,537	I170V	probably benign	Het
Gfm1	T	C	3: 67,435,610	V159A	probably damaging	Het
Gm10837	A	G	14: 122,490,765	T18A	unknown	Het
Gm12887	A	T	4: 121,622,030	V25E	probably damaging	Het
Hectd4	A	G	5: 121,297,180	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,636,632	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,545,567	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,704,270		probably null	Het
Invs	T	A	4: 48,422,035	I889N	probably damaging	Het
Kcnq1	A	T	7: 143,183,120	M209L	probably benign	Het
Klra7	A	G	6: 130,229,994	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,333,526		probably benign	Het
Lrif1	T	A	3: 106,732,811	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,227,173		probably null	Het
Lypd6	T	A	2: 50,188,762	I90N	possibly damaging	Het
Mbp	A	G	18: 82,584,122	D174G	probably damaging	Het
Megf9	G	T	4: 70,534,785	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,869,586	T1155S	probably benign	Het
Nlrp6	T	A	7: 140,923,093	C371S	probably damaging	Het
Nosip	T	A	7: 45,077,309		probably null	Het
Nox3	G	T	17: 3,669,878	P344H	probably damaging	Het
Nup210l	T	C	3: 90,172,086	V959A	probably damaging	Het
Olfr1360	C	A	13: 21,674,672	V91L	probably benign	Het
Olfr1475	A	G	19: 13,479,931	I89T	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,077	I211F	probably damaging	Het
Olfr267	T	C	4: 58,785,384	I113V	probably benign	Het
Olfr959	A	G	9: 39,572,735	Y175H	possibly damaging	Het
Osbpl3	A	C	6: 50,370,143	S25A	probably damaging	Het
Otog	G	A	7: 46,246,283	C107Y	probably damaging	Het
Pax7	G	A	4: 139,784,491	R260C	probably damaging	Het
Pbrm1	A	T	14: 31,038,957	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,192,225		probably null	Het
Pcnx	T	C	12: 81,980,935	L1585P	probably damaging	Het
Pde4c	C	T	8: 70,747,950	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pgm2	A	T	4: 99,961,478	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,343,505	H814R	probably benign	Het
Pole	G	A	5: 110,330,835		probably null	Het
Polr1b	A	G	2: 129,102,966	I61V	probably benign	Het
Prelp	T	C	1: 133,914,757	K217E	probably damaging	Het
Prkce	C	T	17: 86,475,546	Q202*	probably null	Het
Psmd2	T	G	16: 20,656,582	M370R	probably benign	Het
Rimklb	A	T	6: 122,464,009	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,754,674	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,598,752	M1L	probably benign	Het
Scrn1	A	G	6: 54,522,841	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,950,675	S461G	probably benign	Het
Serpina1c	T	A	12: 103,895,023	T411S	probably benign	Het
Serpinb6d	C	T	13: 33,671,381	P346L	probably benign	Het
Slc9a3r2	C	T	17: 24,641,719	S150N	possibly damaging	Het
Spg21	G	T	9: 65,465,336	V17F	probably damaging	Het
Spink5	A	T	18: 43,999,891	M525L	probably benign	Het
Sun2	T	C	15: 79,737,563	T155A	probably benign	Het
Tchh	T	A	3: 93,446,780	F1176I	unknown	Het
Tex15	T	A	8: 33,576,654	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,317,804	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,276,780	N139S	probably benign	Het
Tns2	C	T	15: 102,113,133		probably null	Het
Trim66	T	C	7: 109,475,839	E405G	probably damaging	Het
Trpc4	T	A	3: 54,279,994	F456I	probably benign	Het
Tspo2	T	C	17: 48,448,790	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,121,554	C304*	probably null	Het
Vgll4	A	T	6: 114,862,795	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,244,470	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,597,921	S587A	probably benign	Het
Vps4b	C	A	1: 106,778,982	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,229,564	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,793,725	R631Q	probably damaging	Het
Zswim5	G	T	4: 116,877,699	E80D	unknown	Het

Other mutations in Pknox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01894:Pknox2	APN	9	36,923,742 (GRCm38)	missense	probably damaging	1.00
IGL02019:Pknox2	APN	9	36,923,633 (GRCm38)	missense	probably damaging	1.00
IGL02706:Pknox2	APN	9	36,936,379 (GRCm38)	missense	probably benign	0.18
IGL03018:Pknox2	APN	9	36,954,697 (GRCm38)	missense	probably damaging	1.00
IGL03374:Pknox2	APN	9	36,923,670 (GRCm38)	missense	probably damaging	0.98
PIT4494001:Pknox2	UTSW	9	36,954,691 (GRCm38)	critical splice donor site	probably null
R0585:Pknox2	UTSW	9	36,909,760 (GRCm38)	splice site	probably benign
R1786:Pknox2	UTSW	9	36,909,684 (GRCm38)	missense	probably damaging	1.00
R1861:Pknox2	UTSW	9	36,923,661 (GRCm38)	missense	probably damaging	1.00
R2252:Pknox2	UTSW	9	36,910,520 (GRCm38)	missense	probably benign	0.12
R2696:Pknox2	UTSW	9	36,909,691 (GRCm38)	nonsense	probably null
R2843:Pknox2	UTSW	9	36,894,328 (GRCm38)	missense	probably benign	0.00
R4576:Pknox2	UTSW	9	36,923,548 (GRCm38)	intron	probably benign
R4632:Pknox2	UTSW	9	36,894,413 (GRCm38)	missense	probably benign	0.00
R4705:Pknox2	UTSW	9	36,923,638 (GRCm38)	missense	possibly damaging	0.92
R4754:Pknox2	UTSW	9	36,909,720 (GRCm38)	missense	probably damaging	0.98
R5974:Pknox2	UTSW	9	36,936,322 (GRCm38)	missense	probably damaging	1.00
R5984:Pknox2	UTSW	9	36,923,726 (GRCm38)	missense	probably damaging	1.00
R7014:Pknox2	UTSW	9	36,909,667 (GRCm38)	missense	probably damaging	1.00
R7387:Pknox2	UTSW	9	36,957,068 (GRCm38)	intron	probably benign
R7488:Pknox2	UTSW	9	36,954,831 (GRCm38)	missense	probably benign	0.26
R7769:Pknox2	UTSW	9	36,895,306 (GRCm38)	splice site	probably null
R8221:Pknox2	UTSW	9	36,909,744 (GRCm38)	missense	possibly damaging	0.86
R8296:Pknox2	UTSW	9	36,911,163 (GRCm38)	missense	probably benign	0.31
R8470:Pknox2	UTSW	9	36,923,690 (GRCm38)	missense	probably damaging	1.00
R8677:Pknox2	UTSW	9	36,910,591 (GRCm38)	missense	probably damaging	0.97
R8906:Pknox2	UTSW	9	36,892,871 (GRCm38)	missense	possibly damaging	0.82
R9026:Pknox2	UTSW	9	36,909,748 (GRCm38)	missense	possibly damaging	0.84
R9401:Pknox2	UTSW	9	36,923,745 (GRCm38)	missense	probably damaging	1.00
R9468:Pknox2	UTSW	9	36,911,199 (GRCm38)	missense	probably benign	0.00
R9565:Pknox2	UTSW	9	36,923,771 (GRCm38)	missense	probably damaging	1.00
R9582:Pknox2	UTSW	9	36,892,956 (GRCm38)	missense	probably damaging	0.97
RF016:Pknox2	UTSW	9	36,909,609 (GRCm38)	critical splice donor site	probably benign
RF061:Pknox2	UTSW	9	36,909,609 (GRCm38)	critical splice donor site	probably benign
X0063:Pknox2	UTSW	9	36,923,769 (GRCm38)	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