Mutagenetix > Incidental Mutations

Incidental Mutation 'R3439:Kng2'

267330

Institutional Source

Beutler Lab

Gene Symbol

Kng2

Ensembl Gene

ENSMUSG00000060459

Gene Name

kininogen 2

Synonyms

Kininogen-II

MMRRC Submission

040657-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3439 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22985854-23029482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23012071 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 163 (I163V)

Ref Sequence

ENSEMBL: ENSMUSP00000046867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039338] [ENSMUST00000100046] [ENSMUST00000115349] [ENSMUST00000160243] [ENSMUST00000231835] [ENSMUST00000232459]

Predicted Effect

probably benign
Transcript: ENSMUST00000039338
AA Change: I163V

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
AA Change: I163V

Domain	Start	End	E-Value	Type
CY	18	126	3.72e-19	SMART
CY	140	248	2.57e-22	SMART
CY	262	370	2.06e-35	SMART
low complexity region	376	390	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100046
AA Change: I163V

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: I163V

Domain	Start	End	E-Value	Type
CY	18	126	3.72e-19	SMART
CY	140	248	2.57e-22	SMART
CY	262	370	2.06e-35	SMART
low complexity region	376	390	N/A	INTRINSIC
low complexity region	478	506	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115349
AA Change: I163V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
AA Change: I163V

Domain	Start	End	E-Value	Type
CY	18	126	3.72e-19	SMART
CY	140	248	2.57e-22	SMART
CY	262	370	2.06e-35	SMART
low complexity region	376	390	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159889

Predicted Effect

probably benign
Transcript: ENSMUST00000160243
AA Change: I163V

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124161
Gene: ENSMUSG00000060459
AA Change: I163V

Domain	Start	End	E-Value	Type
CY	18	126	3.72e-19	SMART
Blast:CY	140	171	2e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000231835

Predicted Effect

probably benign
Transcript: ENSMUST00000232459
AA Change: I99V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.1588

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	C	7: 131,188,779		probably null	Het
Agxt2	C	A	15: 10,381,425	P255Q	probably benign	Het
Dnah10	T	C	5: 124,796,258	Y2458H	possibly damaging	Het
Dnhd1	A	G	7: 105,694,785	T1779A	probably damaging	Het
Glb1l	A	T	1: 75,202,620	C222S	probably damaging	Het
Gm12666	A	C	4: 92,191,682	V23G	possibly damaging	Het
Gnb1l	A	G	16: 18,552,367	T203A	probably benign	Het
Helq	T	C	5: 100,798,304	E57G	probably damaging	Het
Lingo1	T	C	9: 56,620,733	T191A	probably benign	Het
Lrrc37a	G	A	11: 103,497,864	T2245I	unknown	Het
Med13	T	C	11: 86,285,297	D1624G	probably damaging	Het
Mthfsd	A	G	8: 121,099,121	V218A	possibly damaging	Het
Naip1	A	T	13: 100,423,219	D1092E	probably benign	Het
Nom1	T	C	5: 29,435,617	S314P	probably benign	Het
Nwd2	G	A	5: 63,804,552	R493H	probably benign	Het
Olfr1311	T	C	2: 112,021,447	M136V	possibly damaging	Het
Olfr235	A	T	19: 12,268,395	H55L	possibly damaging	Het
Palm	C	T	10: 79,816,784		probably benign	Het
Pitpnm1	A	G	19: 4,112,752	E1115G	probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Prrc2b	T	C	2: 32,206,347	F577L	probably benign	Het
Rnpepl1	A	T	1: 92,916,940	T385S	possibly damaging	Het
Serpinb7	A	T	1: 107,428,351	I35F	probably damaging	Het
Srbd1	C	T	17: 86,057,759	S623N	probably benign	Het
Tchh	A	G	3: 93,447,393	E1380G	unknown	Het
Tet2	G	T	3: 133,466,831	A1890D	possibly damaging	Het
Tfr2	G	T	5: 137,574,651	V215F	probably benign	Het
Vpreb3	C	T	10: 75,943,222		probably benign	Het
Vwde	T	A	6: 13,208,375	L169F	probably damaging	Het

Other mutations in Kng2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00851:Kng2	APN	16	23028830	missense	probably damaging	1.00
IGL01319:Kng2	APN	16	23028834	missense	probably damaging	0.99
IGL01469:Kng2	APN	16	22999827	missense	probably damaging	1.00
IGL01681:Kng2	APN	16	22997017	splice site	probably benign
IGL01830:Kng2	APN	16	22988051	missense	probably damaging	0.97
IGL01903:Kng2	APN	16	22987790	missense	possibly damaging	0.80
IGL02146:Kng2	APN	16	22987832	missense	probably damaging	0.97
IGL02305:Kng2	APN	16	23000624	unclassified	probably benign
IGL02429:Kng2	APN	16	23012079	missense	probably damaging	0.99
FR4548:Kng2	UTSW	16	23000552	nonsense	probably null
R0020:Kng2	UTSW	16	22997296	missense	probably benign	0.02
R0047:Kng2	UTSW	16	22987563	missense	possibly damaging	0.83
R0245:Kng2	UTSW	16	23012181	splice site	probably benign
R0610:Kng2	UTSW	16	23000594	missense	possibly damaging	0.96
R0646:Kng2	UTSW	16	22987736	missense	probably benign	0.10
R0666:Kng2	UTSW	16	22997122	splice site	probably benign
R1552:Kng2	UTSW	16	22987520	missense	probably damaging	1.00
R1765:Kng2	UTSW	16	22988243	critical splice donor site	probably null
R1833:Kng2	UTSW	16	23012052	missense	possibly damaging	0.95
R1997:Kng2	UTSW	16	23024876	missense	possibly damaging	0.84
R2025:Kng2	UTSW	16	23000575	missense	probably benign	0.15
R2056:Kng2	UTSW	16	22987953	intron	probably benign
R2137:Kng2	UTSW	16	22997326	intron	probably benign
R2517:Kng2	UTSW	16	22988315	missense	probably benign	0.24
R3438:Kng2	UTSW	16	23012071	missense	probably benign	0.23
R3551:Kng2	UTSW	16	23011995	critical splice donor site	probably null
R4389:Kng2	UTSW	16	23024868	missense	possibly damaging	0.91
R4538:Kng2	UTSW	16	22988063	missense	probably benign	0.00
R4684:Kng2	UTSW	16	22987641	missense	possibly damaging	0.93
R4978:Kng2	UTSW	16	22987916	missense	probably damaging	1.00
R5658:Kng2	UTSW	16	22997020	splice site	probably null
R6074:Kng2	UTSW	16	23000596	missense	probably benign	0.03
R6216:Kng2	UTSW	16	22987593	missense	probably damaging	1.00
R6271:Kng2	UTSW	16	23003948	missense	probably benign	0.33
R6459:Kng2	UTSW	16	23012115	missense	probably damaging	1.00
R7124:Kng2	UTSW	16	23012055	missense	probably damaging	1.00
R7310:Kng2	UTSW	16	22987772	missense	probably benign	0.00
R7532:Kng2	UTSW	16	23027044	splice site	probably null
R7667:Kng2	UTSW	16	22988232	missense	probably damaging	0.99
R7787:Kng2	UTSW	16	22999848	missense	probably damaging	1.00
R8092:Kng2	UTSW	16	22987922	missense	probably benign	0.00
R8165:Kng2	UTSW	16	22987496	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAGGACGATGCCAGCATGTG -3'
(R):5'- CAGAAAGTCAGGTTTTCAGGATC -3'

Sequencing Primer
(F):5'- ATGTGCCAGGCAGGTTC -3'
(R):5'- CAGGATCTTTCTAAATGGTCTCATGG -3'

Posted On

2015-02-18