Mutagenetix > Incidental Mutation

Incidental Mutation 'R6979:H2-Q2'

557078

Institutional Source

Beutler Lab

Gene Symbol

H2-Q2

Ensembl Gene

ENSMUSG00000091705

Gene Name

histocompatibility 2, Q region locus 2

Synonyms

Gm11132, H-2Q2

MMRRC Submission

045087-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35561283-35565740 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 35564623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q4KN81

Predicted Effect

probably null
Transcript: ENSMUST00000074806

SMART Domains

Protein: ENSMUSP00000078138
Gene: ENSMUSG00000091705

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 null
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: 99.2%
20x: 97.2%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	T	3: 59,947,424 (GRCm39)	T374M	probably benign	Het
Aspg	A	G	12: 112,087,378 (GRCm39)	D278G	possibly damaging	Het
Aspm	C	A	1: 139,408,223 (GRCm39)	A2370E	probably damaging	Het
Ccnt2	T	C	1: 127,702,873 (GRCm39)	M65T	probably damaging	Het
Cd163	A	G	6: 124,294,945 (GRCm39)	T670A	probably benign	Het
Cpne3	G	A	4: 19,533,098 (GRCm39)	T279I	probably benign	Het
Ctdspl	G	A	9: 118,869,598 (GRCm39)	V227M	probably damaging	Het
Ctnnd2	A	G	15: 30,619,376 (GRCm39)	E99G	probably damaging	Het
Dapk1	T	C	13: 60,896,095 (GRCm39)	S728P	probably damaging	Het
Dmxl2	A	G	9: 54,358,163 (GRCm39)	I512T	possibly damaging	Het
Dop1a	A	T	9: 86,403,695 (GRCm39)	T1630S	possibly damaging	Het
Dqx1	A	G	6: 83,037,992 (GRCm39)	D460G	probably damaging	Het
Foxg1	T	C	12: 49,431,567 (GRCm39)		probably benign	Het
Hes6	T	C	1: 91,340,810 (GRCm39)	E17G	possibly damaging	Het
Ighv1-42	T	C	12: 114,900,848 (GRCm39)	Y79C	possibly damaging	Het
Itfg2	T	C	6: 128,388,554 (GRCm39)	D311G	probably damaging	Het
Itgb5	T	A	16: 33,740,356 (GRCm39)	C489S	probably damaging	Het
Map4k5	A	T	12: 69,869,622 (GRCm39)	C488S	probably damaging	Het
Mark1	C	T	1: 184,644,825 (GRCm39)	G377D	possibly damaging	Het
Mat2a	A	G	6: 72,412,096 (GRCm39)	V318A	probably damaging	Het
Mpp7	T	G	18: 7,355,049 (GRCm39)	N459T	possibly damaging	Het
Mrc2	C	A	11: 105,239,461 (GRCm39)	N1348K	probably damaging	Het
Mroh5	T	C	15: 73,664,978 (GRCm39)	K264R	probably benign	Het
Mtor	A	G	4: 148,608,930 (GRCm39)	M1529V	possibly damaging	Het
Mtrr	C	T	13: 68,718,122 (GRCm39)		probably null	Het
Nwd1	C	T	8: 73,394,288 (GRCm39)	P517L	probably damaging	Het
Or4a27	T	A	2: 88,559,528 (GRCm39)	R138S	probably benign	Het
Or8h10	A	G	2: 86,808,577 (GRCm39)	S188P	probably damaging	Het
Polr1c	A	G	17: 46,557,095 (GRCm39)	F63L	probably damaging	Het
Polrmt	C	T	10: 79,582,400 (GRCm39)		probably null	Het
Pomt2	T	C	12: 87,177,125 (GRCm39)	I287M	probably damaging	Het
Prkar2a	T	A	9: 108,610,342 (GRCm39)	N190K	possibly damaging	Het
Prl3d3	T	A	13: 27,341,545 (GRCm39)	Y59N	possibly damaging	Het
Prl5a1	T	A	13: 28,335,189 (GRCm39)	F199L	probably benign	Het
Prpf38b	A	G	3: 108,818,640 (GRCm39)	V40A	probably benign	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Ptgs1	A	G	2: 36,141,311 (GRCm39)	D586G	probably benign	Het
Slx4	T	C	16: 3,802,879 (GRCm39)	K1312E	probably damaging	Het
Smok3c	A	G	5: 138,062,987 (GRCm39)	D158G	probably benign	Het
Spen	A	T	4: 141,205,374 (GRCm39)	D1084E	unknown	Het
Tcp11l1	C	T	2: 104,536,784 (GRCm39)	G27D	probably benign	Het
Tep1	A	G	14: 51,076,094 (GRCm39)	S1679P	possibly damaging	Het
Tmem259	C	T	10: 79,814,391 (GRCm39)	V322I	possibly damaging	Het
Tmpo	A	T	10: 90,988,359 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,555,137 (GRCm39)	A30623S	probably damaging	Het
Ube2l3	G	A	16: 16,977,841 (GRCm39)		probably benign	Het
Unkl	A	G	17: 25,418,890 (GRCm39)	D146G	probably damaging	Het
Vmn1r51	A	T	6: 90,106,186 (GRCm39)	H34L	possibly damaging	Het
Vmn2r17	A	G	5: 109,576,265 (GRCm39)	T379A	possibly damaging	Het
Zfp35	G	T	18: 24,136,927 (GRCm39)	G424C	probably benign	Het
Zfp420	T	A	7: 29,575,446 (GRCm39)	H555Q	probably damaging	Het

Other mutations in H2-Q2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:H2-Q2	APN	17	35,561,825 (GRCm39)	missense	probably damaging	1.00
IGL01148:H2-Q2	APN	17	35,561,654 (GRCm39)	missense	probably damaging	1.00
IGL02081:H2-Q2	APN	17	35,561,684 (GRCm39)	missense	probably damaging	1.00
IGL03406:H2-Q2	APN	17	35,561,801 (GRCm39)	missense	probably benign	0.01
R0145:H2-Q2	UTSW	17	35,564,152 (GRCm39)	missense	probably benign	0.24
R0646:H2-Q2	UTSW	17	35,564,661 (GRCm39)	missense	probably damaging	1.00
R1889:H2-Q2	UTSW	17	35,564,152 (GRCm39)	missense	probably benign	0.24
R2055:H2-Q2	UTSW	17	35,564,247 (GRCm39)	missense	probably benign	0.00
R2152:H2-Q2	UTSW	17	35,564,252 (GRCm39)	critical splice donor site	probably null
R3898:H2-Q2	UTSW	17	35,561,743 (GRCm39)	missense	probably damaging	1.00
R4710:H2-Q2	UTSW	17	35,562,278 (GRCm39)	missense	probably damaging	1.00
R5267:H2-Q2	UTSW	17	35,562,155 (GRCm39)	missense	probably benign	0.21
R5302:H2-Q2	UTSW	17	35,563,885 (GRCm39)	missense	probably damaging	1.00
R6134:H2-Q2	UTSW	17	35,562,217 (GRCm39)	missense	probably damaging	0.98
R6453:H2-Q2	UTSW	17	35,563,871 (GRCm39)	missense	probably benign	0.07
R6633:H2-Q2	UTSW	17	35,561,363 (GRCm39)	missense	probably damaging	0.98
R8248:H2-Q2	UTSW	17	35,563,841 (GRCm39)	missense	probably benign
R8306:H2-Q2	UTSW	17	35,561,301 (GRCm39)	unclassified	probably benign
R8714:H2-Q2	UTSW	17	35,562,338 (GRCm39)	missense	possibly damaging	0.92
R9640:H2-Q2	UTSW	17	35,562,206 (GRCm39)	missense	probably damaging	1.00
Z1176:H2-Q2	UTSW	17	35,564,651 (GRCm39)	missense	probably damaging	1.00
Z1177:H2-Q2	UTSW	17	35,561,318 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGTAAGAGACTACGCTCAAGATCC -3'
(R):5'- AGGCAGCTGTCTTCATGCTAG -3'

Sequencing Primer
(F):5'- CTACGCTCAAGATCCAGGTTAGTG -3'
(R):5'- CAGCTGTCTTCATGCTAGAGAAAG -3'

Posted On

2019-06-10