Mutagenetix > Incidental Mutation

Incidental Mutation 'R0520:H2-K2'

48490

Institutional Source

Beutler Lab

Gene Symbol

H2-K2

Ensembl Gene

ENSMUSG00000067203

Gene Name

histocompatibility 2, K region locus 2

Synonyms

H2-K1, H-2K2, H-2K1K, H-2K1

MMRRC Submission

038713-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0520 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

34194050-34197764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34216390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 272 (V272E)

Ref Sequence

ENSEMBL: ENSMUSP00000133847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025181] [ENSMUST00000087189] [ENSMUST00000172912] [ENSMUST00000173075]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025181
AA Change: V252E

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

SMART Domains

Protein: ENSMUSP00000025181
Gene: ENSMUSG00000061232
AA Change: V252E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	1.4e-95	PFAM
IGc1	219	290	9.98e-22	SMART
transmembrane domain	306	328	N/A	INTRINSIC
Pfam:MHC_I_C	335	359	2.3e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000087189
AA Change: V70E

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

SMART Domains

Protein: ENSMUSP00000084436
Gene: ENSMUSG00000061232
AA Change: V70E

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
IGc1	37	108	9.98e-22	SMART
low complexity region	124	143	N/A	INTRINSIC
Pfam:MHC_I_C	152	177	5.9e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000114311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172782

Predicted Effect

probably damaging
Transcript: ENSMUST00000172912
AA Change: V252E

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

SMART Domains

Protein: ENSMUSP00000134004
Gene: ENSMUSG00000061232
AA Change: V252E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	6.7e-97	PFAM
IGc1	219	290	9.98e-22	SMART
transmembrane domain	306	328	N/A	INTRINSIC
Pfam:MHC_I_C	334	359	9.3e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173075
AA Change: V272E

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

SMART Domains

Protein: ENSMUSP00000133847
Gene: ENSMUSG00000061232
AA Change: V272E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	42	220	3.7e-97	PFAM
Pfam:C1-set	229	289	4.2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173543

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	C	14: 103,288,952 (GRCm39)	I154T	possibly damaging	Het
Acr	G	T	15: 89,457,430 (GRCm39)	C226F	probably damaging	Het
Aff1	C	T	5: 103,995,617 (GRCm39)	R1070*	probably null	Het
Aldh9a1	C	T	1: 167,188,960 (GRCm39)		probably benign	Het
Apaf1	A	T	10: 90,915,851 (GRCm39)	H12Q	probably damaging	Het
Asic1	A	T	15: 99,593,416 (GRCm39)	I291F	probably damaging	Het
Aspm	T	A	1: 139,406,558 (GRCm39)	M1815K	possibly damaging	Het
Asxl3	A	T	18: 22,656,043 (GRCm39)	D1351V	probably damaging	Het
Atg9a	C	T	1: 75,163,178 (GRCm39)	W299*	probably null	Het
B3gntl1	C	A	11: 121,514,314 (GRCm39)	V313F	possibly damaging	Het
B4galnt4	T	A	7: 140,647,286 (GRCm39)	C345*	probably null	Het
Bicc1	A	T	10: 70,793,020 (GRCm39)	F211L	probably damaging	Het
Cachd1	T	G	4: 100,754,900 (GRCm39)	V117G	probably damaging	Het
Cdc16	G	A	8: 13,810,569 (GRCm39)		probably null	Het
Cers6	C	T	2: 68,935,435 (GRCm39)	Q312*	probably null	Het
Csta2	A	G	16: 36,073,461 (GRCm39)	I16V	probably benign	Het
Dclre1c	A	G	2: 3,437,512 (GRCm39)	H115R	probably damaging	Het
Ddx20	T	C	3: 105,594,692 (GRCm39)	T18A	probably benign	Het
Dhx57	A	G	17: 80,565,604 (GRCm39)	V816A	possibly damaging	Het
Dlgap1	C	T	17: 70,823,989 (GRCm39)	Q325*	probably null	Het
Dnaja1	A	T	4: 40,728,072 (GRCm39)	M178L	probably benign	Het
Ecd	A	T	14: 20,378,732 (GRCm39)	S454T	probably benign	Het
Efcab6	G	A	15: 83,834,247 (GRCm39)	H454Y	probably benign	Het
Exo1	T	A	1: 175,727,031 (GRCm39)	D447E	probably benign	Het
F5	T	G	1: 164,037,156 (GRCm39)	I1965S	probably benign	Het
Fbn2	A	G	18: 58,146,821 (GRCm39)	C2692R	probably damaging	Het
Fggy	T	A	4: 95,489,340 (GRCm39)	L152Q	probably damaging	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Gm9871	A	G	6: 101,778,540 (GRCm39)		noncoding transcript	Het
Gnai2	A	T	9: 107,497,372 (GRCm39)	D7E	probably benign	Het
Gon7	C	T	12: 102,724,047 (GRCm39)		probably benign	Het
Hectd4	G	T	5: 121,469,770 (GRCm39)	R2555L	possibly damaging	Het
Hexb	T	C	13: 97,317,618 (GRCm39)	R360G	probably benign	Het
Igsf9b	C	A	9: 27,234,546 (GRCm39)	S470R	probably benign	Het
Inpp5d	T	C	1: 87,633,642 (GRCm39)		probably benign	Het
Inpp5k	C	A	11: 75,530,356 (GRCm39)	Y265*	probably null	Het
Klhl33	T	G	14: 51,129,140 (GRCm39)	E436D	probably damaging	Het
Krt80	A	G	15: 101,267,898 (GRCm39)	L13P	probably benign	Het
Krtap19-2	C	T	16: 88,670,749 (GRCm39)		probably benign	Het
Marchf10	T	C	11: 105,280,708 (GRCm39)	T526A	probably benign	Het
Mcrs1	A	G	15: 99,146,336 (GRCm39)		probably null	Het
Msh2	G	T	17: 88,024,972 (GRCm39)	V617F	possibly damaging	Het
Nckap1	A	C	2: 80,371,874 (GRCm39)		probably benign	Het
Nek4	T	A	14: 30,681,263 (GRCm39)		probably benign	Het
Or7h8	G	A	9: 20,123,791 (GRCm39)	V49I	probably benign	Het
Or8b12b	T	C	9: 37,684,849 (GRCm39)	V298A	probably benign	Het
Or8k22	G	T	2: 86,163,475 (GRCm39)	T75K	probably damaging	Het
Or9s14	T	A	1: 92,536,471 (GRCm39)	V304E	probably damaging	Het
Osgin1	A	G	8: 120,169,247 (GRCm39)	H48R	probably damaging	Het
Pam	T	A	1: 97,811,920 (GRCm39)	T369S	probably benign	Het
Pclo	C	T	5: 14,763,844 (GRCm39)	Q821*	probably null	Het
Plekhm1	T	C	11: 103,285,770 (GRCm39)	I222V	probably benign	Het
Ptprg	T	G	14: 12,199,783 (GRCm38)	N65K	possibly damaging	Het
Pum2	T	A	12: 8,771,710 (GRCm39)	V351E	probably damaging	Het
Slc25a54	T	A	3: 109,014,546 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,736,538 (GRCm39)	D587E	possibly damaging	Het
Stap1	A	G	5: 86,238,823 (GRCm39)	M164V	probably benign	Het
Stat5a	T	C	11: 100,752,252 (GRCm39)	V30A	probably damaging	Het
Stk36	T	G	1: 74,641,365 (GRCm39)		probably benign	Het
Tiam1	G	T	16: 89,614,839 (GRCm39)		probably benign	Het
Tmc5	T	C	7: 118,265,799 (GRCm39)	M553T	probably damaging	Het
Tmem14a	T	A	1: 21,299,636 (GRCm39)	Y89N	possibly damaging	Het
Tpp2	A	G	1: 44,029,690 (GRCm39)	Y991C	probably damaging	Het
Ttc7	A	G	17: 87,666,579 (GRCm39)	K615E	possibly damaging	Het
Ubac2	C	T	14: 122,231,754 (GRCm39)	P227S	probably damaging	Het
Vit	A	C	17: 78,932,588 (GRCm39)	K565T	probably damaging	Het
Vps13c	T	C	9: 67,853,133 (GRCm39)	F2409L	possibly damaging	Het
Wdr64	A	G	1: 175,553,958 (GRCm39)	T173A	probably damaging	Het
Zfp759	T	C	13: 67,285,419 (GRCm39)	I60T	probably benign	Het
Zfp81	A	G	17: 33,553,351 (GRCm39)	S488P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het

Other mutations in H2-K2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02189:H2-K2	APN	17	34,218,466 (GRCm39)	missense	probably damaging	1.00
FR4548:H2-K2	UTSW	17	34,216,016 (GRCm39)	unclassified	probably benign
FR4976:H2-K2	UTSW	17	34,216,016 (GRCm39)	unclassified	probably benign
R0254:H2-K2	UTSW	17	34,215,639 (GRCm39)	unclassified	probably benign
R0540:H2-K2	UTSW	17	34,218,474 (GRCm39)	missense	probably damaging	1.00
R0607:H2-K2	UTSW	17	34,218,474 (GRCm39)	missense	probably damaging	1.00
R0718:H2-K2	UTSW	17	34,194,597 (GRCm39)	splice site	noncoding transcript
R1282:H2-K2	UTSW	17	34,218,421 (GRCm39)	missense	probably damaging	1.00
R1785:H2-K2	UTSW	17	34,216,322 (GRCm39)	nonsense	probably null
R2307:H2-K2	UTSW	17	34,216,113 (GRCm39)	missense	probably benign	0.26
R3791:H2-K2	UTSW	17	34,218,499 (GRCm39)	missense	probably benign	0.02
R3847:H2-K2	UTSW	17	34,216,303 (GRCm39)	missense	probably damaging	1.00
R4008:H2-K2	UTSW	17	34,218,525 (GRCm39)	splice site	probably benign
R4324:H2-K2	UTSW	17	34,219,014 (GRCm39)	missense	possibly damaging	0.76
R4470:H2-K2	UTSW	17	34,219,035 (GRCm39)	missense	probably benign	0.20
R4543:H2-K2	UTSW	17	34,218,532 (GRCm39)	splice site	probably null
R4647:H2-K2	UTSW	17	34,194,989 (GRCm39)	splice site	noncoding transcript
R4648:H2-K2	UTSW	17	34,194,989 (GRCm39)	splice site	noncoding transcript
R4858:H2-K2	UTSW	17	34,216,298 (GRCm39)	missense	probably benign	0.05
R4921:H2-K2	UTSW	17	34,216,050 (GRCm39)	missense	possibly damaging	0.65
R5254:H2-K2	UTSW	17	34,216,436 (GRCm39)	missense	probably damaging	1.00
R5269:H2-K2	UTSW	17	34,215,989 (GRCm39)	unclassified	probably benign
R6058:H2-K2	UTSW	17	34,218,305 (GRCm39)	missense	probably benign
R6058:H2-K2	UTSW	17	34,218,304 (GRCm39)	missense	probably benign	0.02
R7941:H2-K2	UTSW	17	34,218,305 (GRCm39)	missense	probably benign
R8057:H2-K2	UTSW	17	34,215,833 (GRCm39)	missense	possibly damaging	0.63
R8938:H2-K2	UTSW	17	34,216,294 (GRCm39)	missense	probably damaging	1.00
R9355:H2-K2	UTSW	17	34,216,120 (GRCm39)	missense	probably benign	0.01
R9625:H2-K2	UTSW	17	34,218,975 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGACTATTGCAGCTCCAAGGACAAC -3'
(R):5'- AGATTCCCCAAAGGCCCATGTGAC -3'

Sequencing Primer
(F):5'- TCGCCATGTTGGAGACAG -3'
(R):5'- TGTGACCCATCACAGCAG -3'

Posted On

2013-06-12