Mutagenetix > Incidental Mutation

Incidental Mutation 'R5974:Pknox2'

471622

Institutional Source

Beutler Lab

Gene Symbol

Pknox2

Ensembl Gene

ENSMUSG00000035934

Gene Name

Pbx/knotted 1 homeobox 2

Synonyms

D230005H23Rik, Prep2

MMRRC Submission

044157-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

R5974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36802275-37058638 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36847618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 133 (L133P)

Ref Sequence

ENSEMBL: ENSMUSP00000135581 (fasta)

Gene Model

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

AlphaFold

Q8BG99

Predicted Effect

probably damaging
Transcript: ENSMUST00000039674
AA Change: L133P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035806
Gene: ENSMUSG00000035934
AA Change: L133P

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: L133P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079578
Gene: ENSMUSG00000035934
AA Change: L133P

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

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 damaging
Transcript: ENSMUST00000177218
AA Change: L133P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135581
Gene: ENSMUSG00000035934
AA Change: L133P

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: ENSMUST00000188057

Predicted Effect

probably benign
Transcript: ENSMUST00000177444

Predicted Effect

probably benign
Transcript: ENSMUST00000188348

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc4	T	C	5: 53,002,742 (GRCm39)	L261P	probably damaging	Het
Aqp6	A	G	15: 99,499,317 (GRCm39)	Y10C	probably benign	Het
Ccnb1ip1	A	T	14: 51,029,662 (GRCm39)	N133K	probably benign	Het
Clip4	A	T	17: 72,138,242 (GRCm39)	H433L	probably damaging	Het
Cntnap5c	T	A	17: 58,183,480 (GRCm39)	M62K	probably benign	Het
Col12a1	A	G	9: 79,589,409 (GRCm39)	S1049P	probably damaging	Het
Col15a1	C	T	4: 47,258,683 (GRCm39)	T358I	probably benign	Het
Coro7	A	T	16: 4,449,753 (GRCm39)	D645E	possibly damaging	Het
Ctnnal1	C	A	4: 56,817,067 (GRCm39)	W585L	probably damaging	Het
Ctnnd1	C	A	2: 84,451,259 (GRCm39)	E114*	probably null	Het
Daam2	T	A	17: 49,771,501 (GRCm39)	S882C	probably damaging	Het
Des	T	A	1: 75,339,628 (GRCm39)	S329T	probably benign	Het
Dido1	T	C	2: 180,313,290 (GRCm39)	D994G	probably benign	Het
Dock3	A	G	9: 106,871,261 (GRCm39)	V547A	probably damaging	Het
Ebf4	G	A	2: 130,207,484 (GRCm39)	A643T	probably damaging	Het
Ect2	C	A	3: 27,199,112 (GRCm39)	E194*	probably null	Het
Epb41l2	A	G	10: 25,317,713 (GRCm39)	I77V	possibly damaging	Het
Fat3	A	T	9: 15,917,824 (GRCm39)		probably null	Het
Fbn2	T	G	18: 58,181,992 (GRCm39)	D1803A	probably damaging	Het
Fbxo10	T	C	4: 45,040,631 (GRCm39)	E858G	probably benign	Het
Fbxo24	C	T	5: 137,617,912 (GRCm39)	R284Q	probably benign	Het
Fsip2	T	A	2: 82,793,657 (GRCm39)	I425N	possibly damaging	Het
Fut9	A	C	4: 25,620,090 (GRCm39)	Y241*	probably null	Het
Galr2	A	G	11: 116,173,852 (GRCm39)	S161G	possibly damaging	Het
Gcc2	T	A	10: 58,094,065 (GRCm39)	L14I	probably damaging	Het
H2-T15	A	T	17: 36,367,677 (GRCm39)	D220E	probably benign	Het
Hdac11	G	A	6: 91,150,196 (GRCm39)	V332I	probably benign	Het
Hdac7	T	C	15: 97,699,953 (GRCm39)		probably null	Het
Kif16b	C	T	2: 142,699,301 (GRCm39)	G93D	probably damaging	Het
Krtap11-1	C	A	16: 89,367,656 (GRCm39)	C121F	possibly damaging	Het
Lacc1	T	C	14: 77,272,517 (GRCm39)	Q93R	probably damaging	Het
Lama1	T	C	17: 68,080,722 (GRCm39)	F1250S	probably benign	Het
Lmbrd2	A	G	15: 9,172,202 (GRCm39)	E332G	probably benign	Het
Lrp2	C	A	2: 69,289,892 (GRCm39)	C3649F	probably damaging	Het
Map1a	T	C	2: 121,134,857 (GRCm39)	V1653A	probably benign	Het
Mrpl1	T	C	5: 96,379,653 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Nedd4	T	A	9: 72,650,920 (GRCm39)		probably null	Het
Negr1	T	A	3: 156,774,923 (GRCm39)	V213E	probably damaging	Het
Nlk	T	G	11: 78,481,792 (GRCm39)	Q223P	probably benign	Het
Ntn5	A	G	7: 45,340,848 (GRCm39)	H162R	probably damaging	Het
Nup42	T	C	5: 24,372,400 (GRCm39)	S63P	probably damaging	Het
Obscn	C	A	11: 58,967,373 (GRCm39)	D477Y	probably damaging	Het
Or12d12	A	T	17: 37,611,229 (GRCm39)	I28N	possibly damaging	Het
Or5an1	T	C	19: 12,261,200 (GRCm39)	S263P	probably damaging	Het
Or8u10	T	C	2: 85,915,225 (GRCm39)	S299G	probably benign	Het
Pabpn1	A	G	14: 55,134,617 (GRCm39)	T280A	probably damaging	Het
Per3	A	T	4: 151,127,194 (GRCm39)	V109E	possibly damaging	Het
Pira2	A	C	7: 3,844,576 (GRCm39)	V485G	probably benign	Het
Pros1	A	C	16: 62,721,030 (GRCm39)	N195T	probably damaging	Het
Rffl	T	C	11: 82,696,977 (GRCm39)	K289E	probably damaging	Het
Ripk1	T	A	13: 34,214,084 (GRCm39)	Y475*	probably null	Het
Ryr2	A	G	13: 11,729,397 (GRCm39)		probably null	Het
Sgk1	T	A	10: 21,872,148 (GRCm39)	N241K	probably damaging	Het
Skint1	T	A	4: 111,876,516 (GRCm39)	S146T	probably benign	Het
Sox30	G	T	11: 45,871,900 (GRCm39)	D252Y	probably damaging	Het
Syngap1	A	G	17: 27,182,012 (GRCm39)	Y1002C	probably damaging	Het
Tiam2	A	G	17: 3,465,084 (GRCm39)	D271G	possibly damaging	Het
Ticam1	T	C	17: 56,578,178 (GRCm39)	T306A	probably benign	Het
Tmem252	A	G	19: 24,651,632 (GRCm39)	E67G	probably benign	Het
Tnxb	T	G	17: 34,904,681 (GRCm39)	F1149V	probably damaging	Het
Ubr4	A	G	4: 139,148,389 (GRCm39)		probably null	Het
Unc50	A	G	1: 37,476,290 (GRCm39)	D150G	probably benign	Het
Ywhag	A	C	5: 135,940,483 (GRCm39)	L37R	probably damaging	Het
Zfp296	T	C	7: 19,311,862 (GRCm39)	L123P	probably benign	Het
Zfp418	G	T	7: 7,185,199 (GRCm39)	Q387H	possibly damaging	Het
Zfp882	T	C	8: 72,666,999 (GRCm39)	F53L	probably damaging	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
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'- AACAGATGTGCAGACGCTGG -3'
(R):5'- GTGTGAGCTCTTGATGTCCC -3'

Sequencing Primer
(F):5'- TGGTGCCACCAGAGGTACAG -3'
(R):5'- AGCTCTTGATGTCCCCGCAG -3'

Posted On

2017-03-31