Mutagenetix > Incidental Mutation

Incidental Mutation 'R8714:H2-Q2'

669795

Institutional Source

Beutler Lab

Gene Symbol

H2-Q2

Ensembl Gene

ENSMUSG00000091705

Gene Name

histocompatibility 2, Q region locus 2

Synonyms

H-2Q2, Gm11132

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R8714 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35342242-35346762 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35343362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 195 (L195P)

Ref Sequence

ENSEMBL: ENSMUSP00000078138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074806]

AlphaFold

Q4KN81

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074806
AA Change: L195P

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078138
Gene: ENSMUSG00000091705
AA Change: L195P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:MHC_I	22	200	2.4e-90	PFAM
IGc1	219	290	4.05e-22	SMART
low complexity region	306	325	N/A	INTRINSIC
Pfam:MHC_I_C	334	358	1.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173115

SMART Domains

Protein: ENSMUSP00000133989
Gene: ENSMUSG00000091705

Domain	Start	End	E-Value	Type
SCOP:d1hdma1	2	19	5e-6	SMART
low complexity region	22	41	N/A	INTRINSIC
Pfam:MHC_I_C	50	74	1.5e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,242,896	A137T	probably benign	Het
4930474N05Rik	T	A	14: 36,096,499	C151*	probably null	Het
Abca4	A	G	3: 122,148,879	T1674A	probably benign	Het
Acat3	A	T	17: 12,928,629	V167E	probably benign	Het
Alb	T	C	5: 90,461,015		probably null	Het
Apol9a	T	C	15: 77,404,742	T142A	probably benign	Het
Asb14	C	T	14: 26,901,075	P135S	possibly damaging	Het
Asb17	A	G	3: 153,850,676	Y140C	probably damaging	Het
Atp4a	T	A	7: 30,720,588	I750N	probably damaging	Het
Bard1	T	C	1: 71,030,827	Y664C	probably damaging	Het
Cacnb3	G	A	15: 98,632,381		probably benign	Het
Card11	T	A	5: 140,913,392	D9V	possibly damaging	Het
Casp8	A	T	1: 58,833,653	Q229H	possibly damaging	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cd209d	CAT	C	8: 3,873,772		probably null	Het
Cep350	T	C	1: 155,860,731	D2853G	probably damaging	Het
Cfap161	T	C	7: 83,793,274	I110M	probably benign	Het
Chid1	T	A	7: 141,513,765	K313*	probably null	Het
Col16a1	T	A	4: 130,054,168	I227N	unknown	Het
D3Ertd751e	G	T	3: 41,746,563	E6*	probably null	Het
Ddx41	T	C	13: 55,534,437	Q208R	probably damaging	Het
Dhrs13	G	C	11: 78,032,666	R70P	possibly damaging	Het
Dmrta1	A	T	4: 89,691,445	Q214L	probably benign	Het
Eif2ak4	T	C	2: 118,462,284	F1330L	possibly damaging	Het
Fbxw13	C	T	9: 109,194,764	V71I	probably benign	Het
Gm8882	G	A	6: 132,364,088	T7I	unknown	Het
Hemgn	C	T	4: 46,395,904	G444D	probably damaging	Het
Lmtk2	A	G	5: 144,176,058	T1199A	probably damaging	Het
Ly75	T	C	2: 60,334,485	D783G	probably damaging	Het
Micall1	G	A	15: 79,127,310	A627T	probably benign	Het
Morc2a	C	T	11: 3,675,877	T159I	probably benign	Het
Mthfr	C	A	4: 148,041,818	N115K	probably damaging	Het
Muc1	G	A	3: 89,231,514	V477M	possibly damaging	Het
Mug1	C	T	6: 121,882,722	P1227S	probably benign	Het
Ogfod3	T	A	11: 121,196,782	D163V	possibly damaging	Het
Olfr644	T	A	7: 104,068,276	I252F	probably damaging	Het
Pcnx2	C	T	8: 125,773,807	V1515I	probably benign	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plscr3	G	T	11: 69,848,012	G167C	probably benign	Het
Plxna4	T	A	6: 32,163,444	K1670*	probably null	Het
Rab7	T	C	6: 88,012,387	S34G	probably damaging	Het
Rnf157	C	A	11: 116,347,065	A577S	probably benign	Het
Rnf213	C	T	11: 119,468,894	S4371L		Het
S1pr1	A	T	3: 115,711,821	S375T	probably benign	Het
Spen	T	C	4: 141,488,003	N506S	unknown	Het
Sulf1	T	A	1: 12,807,917	Y210N	probably benign	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tg	A	G	15: 66,684,042	N861S	probably damaging	Het
Ttc29	A	G	8: 78,333,702	E417G	possibly damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Ubxn7	T	A	16: 32,367,411		probably benign	Het
Vmn1r62	C	A	7: 5,675,630	Y103*	probably null	Het
Zfp804b	A	T	5: 6,772,378	Y228*	probably null	Het

Other mutations in H2-Q2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:H2-Q2	APN	17	35342849	missense	probably damaging	1.00
IGL01148:H2-Q2	APN	17	35342678	missense	probably damaging	1.00
IGL02081:H2-Q2	APN	17	35342708	missense	probably damaging	1.00
IGL03406:H2-Q2	APN	17	35342825	missense	probably benign	0.01
R0145:H2-Q2	UTSW	17	35345176	missense	probably benign	0.24
R0646:H2-Q2	UTSW	17	35345685	missense	probably damaging	1.00
R1889:H2-Q2	UTSW	17	35345176	missense	probably benign	0.24
R2055:H2-Q2	UTSW	17	35345271	missense	probably benign	0.00
R2152:H2-Q2	UTSW	17	35345276	critical splice donor site	probably null
R3898:H2-Q2	UTSW	17	35342767	missense	probably damaging	1.00
R4710:H2-Q2	UTSW	17	35343302	missense	probably damaging	1.00
R5267:H2-Q2	UTSW	17	35343179	missense	probably benign	0.21
R5302:H2-Q2	UTSW	17	35344909	missense	probably damaging	1.00
R6134:H2-Q2	UTSW	17	35343241	missense	probably damaging	0.98
R6453:H2-Q2	UTSW	17	35344895	missense	probably benign	0.07
R6633:H2-Q2	UTSW	17	35342387	missense	probably damaging	0.98
R6979:H2-Q2	UTSW	17	35345647	splice site	probably null
R8248:H2-Q2	UTSW	17	35344865	missense	probably benign
R8306:H2-Q2	UTSW	17	35342325	unclassified	probably benign
R9640:H2-Q2	UTSW	17	35343230	missense	probably damaging	1.00
Z1176:H2-Q2	UTSW	17	35345675	missense	probably damaging	1.00
Z1177:H2-Q2	UTSW	17	35342342	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CACTCTCCAGTGGTTGGTTG -3'
(R):5'- TGCAGTCACTGTGATGAGG -3'

Sequencing Primer
(F):5'- ATGAGCAGTCTGCCTACGATG -3'
(R):5'- CAGTCACTGTGATGAGGGATCAG -3'

Posted On

2021-04-30