Mutagenetix > Incidental Mutations

Incidental Mutation 'R6271:Kng2'

507363

Institutional Source

Beutler Lab

Gene Symbol

Kng2

Ensembl Gene

ENSMUSG00000060459

Gene Name

kininogen 2

Synonyms

Kininogen-II

MMRRC Submission

044379-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6271 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22985854-23029482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23003948 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 218 (V218E)

Ref Sequence

ENSEMBL: ENSMUSP00000097623 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039338
AA Change: V218E

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
AA Change: V218E

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: V218E

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: V218E

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: V218E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
AA Change: V218E

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: ENSMUST00000160243

SMART Domains

Protein: ENSMUSP00000124161
Gene: ENSMUSG00000060459

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: ENSMUST00000231872

Predicted Effect

probably benign
Transcript: ENSMUST00000232459
AA Change: V154E

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	G	T	4: 133,064,724	C1092F	possibly damaging	Het
Aplf	T	C	6: 87,646,248	E304G	possibly damaging	Het
Atp12a	A	G	14: 56,378,422	D547G	probably benign	Het
B3gat2	T	C	1: 23,815,261	L212P	probably damaging	Het
Babam2	G	T	5: 32,001,362	A219S	probably damaging	Het
Ccdc18	A	C	5: 108,174,887	S618R	possibly damaging	Het
Ces2c	G	A	8: 104,852,116	G342D	probably damaging	Het
Cfap57	A	C	4: 118,595,759	D582E	probably benign	Het
Cisd2	T	C	3: 135,408,866	N115D	possibly damaging	Het
Cyp17a1	A	G	19: 46,672,720	F42L	probably benign	Het
Fam208b	C	T	13: 3,581,891	R870H	possibly damaging	Het
Fam234a	T	C	17: 26,218,237	D156G	probably benign	Het
Fer1l6	T	A	15: 58,641,918	I1554K	probably benign	Het
Fv1	A	G	4: 147,870,017	T347A	possibly damaging	Het
Gm5134	T	A	10: 75,995,809	C361S	probably benign	Het
Gm5415	T	A	1: 32,545,491	D446V	probably damaging	Het
Grin3a	T	C	4: 49,792,516	I406V	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ifna13	A	C	4: 88,643,845	L181V	possibly damaging	Het
Irx4	A	G	13: 73,266,594		probably null	Het
Kcna3	T	A	3: 107,037,606	M395K	probably damaging	Het
Kcnma1	A	T	14: 23,509,889	V347D	probably damaging	Het
Krt36	G	A	11: 100,104,472	Q167*	probably null	Het
Lama2	T	C	10: 27,023,329	D2457G	possibly damaging	Het
Ldah	G	A	12: 8,268,599		probably null	Het
Lhfpl3	G	T	5: 22,746,244	A18S	probably benign	Het
Lrrk1	A	G	7: 66,307,103		probably null	Het
Ltv1	T	C	10: 13,179,701	Y352C	probably damaging	Het
Lyst	G	T	13: 13,658,754	M1720I	probably benign	Het
Mkx	A	T	18: 6,937,059		probably null	Het
Myo18a	A	G	11: 77,820,809	H626R	probably damaging	Het
Nop9	A	C	14: 55,753,741	Q618H	probably damaging	Het
Olfr1255	T	C	2: 89,816,562	S73P	probably damaging	Het
Olfr25	T	C	9: 38,330,282	S232P	probably benign	Het
Olfr358	T	C	2: 37,005,542	Q24R	probably damaging	Het
Olfr850	A	G	9: 19,478,041	S67P	probably damaging	Het
Otog	C	A	7: 46,252,040	Q388K	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Oxct2b	T	G	4: 123,117,715	V476G	probably damaging	Het
Parp10	T	C	15: 76,242,002	T329A	probably benign	Het
Pcdhga5	T	C	18: 37,696,682	S728P	probably benign	Het
Piezo1	G	T	8: 122,494,932	H574Q	probably damaging	Het
Pnpla1	G	A	17: 28,881,368	G403E	probably benign	Het
Pqlc3	T	C	12: 16,997,703	D76G	probably damaging	Het
Preb	C	A	5: 30,958,051	V255F	probably damaging	Het
Prmt9	A	G	8: 77,577,463	N725S	probably damaging	Het
Ric1	A	T	19: 29,567,365		probably null	Het
Serinc3	G	C	2: 163,630,976	L245V	probably benign	Het
Sgce	T	C	6: 4,730,015	K70E	possibly damaging	Het
Simc1	T	G	13: 54,539,724	V102G	probably damaging	Het
Smyd2	A	G	1: 189,883,852	Y362H	probably damaging	Het
Sptbn1	G	T	11: 30,100,660	H2310N	probably benign	Het
Syne1	T	C	10: 5,234,652	Y4077C	probably damaging	Het
Syne2	C	A	12: 75,890,381	A251E	probably damaging	Het
Taok1	A	T	11: 77,573,783	L159Q	probably damaging	Het
Timeless	T	C	10: 128,250,724	L1043P	probably damaging	Het
Tmprss3	T	C	17: 31,186,562	E352G	probably damaging	Het
Trav6-4	A	T	14: 53,454,582	T46S	probably benign	Het
Ubiad1	A	T	4: 148,436,626	Y180*	probably null	Het
Usp47	A	G	7: 112,087,056	E627G	probably damaging	Het
Vmn2r124	A	G	17: 18,062,883	T280A	probably benign	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
R3439: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
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'- GACACACTTGGATGCCTTGG -3'
(R):5'- GCTATTGCCCAGTAATAATGAAGG -3'

Sequencing Primer
(F):5'- TTGGCCAGCAACTTAGGTCCTAAG -3'
(R):5'- GCCCAGTAATAATGAAGGTTTGTAC -3'

Posted On

2018-03-15