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

Gm11132, H-2Q2

MMRRC Submission

068568-MU

Accession Numbers

Essential gene?

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

Stock #

R8714 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35561283-35565740 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35562338 bp (GRCm39)

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: 103,100,093 (GRCm39)	A137T	probably benign	Het
4930474N05Rik	T	A	14: 35,818,456 (GRCm39)	C151*	probably null	Het
Abca4	A	G	3: 121,942,528 (GRCm39)	T1674A	probably benign	Het
Acat3	A	T	17: 13,147,516 (GRCm39)	V167E	probably benign	Het
Alb	T	C	5: 90,608,874 (GRCm39)		probably null	Het
Apol9a	T	C	15: 77,288,942 (GRCm39)	T142A	probably benign	Het
Asb14	C	T	14: 26,623,032 (GRCm39)	P135S	possibly damaging	Het
Asb17	A	G	3: 153,556,313 (GRCm39)	Y140C	probably damaging	Het
Atp4a	T	A	7: 30,420,013 (GRCm39)	I750N	probably damaging	Het
Bard1	T	C	1: 71,069,986 (GRCm39)	Y664C	probably damaging	Het
Cacnb3	G	A	15: 98,530,262 (GRCm39)		probably benign	Het
Card11	T	A	5: 140,899,147 (GRCm39)	D9V	possibly damaging	Het
Casp8	A	T	1: 58,872,812 (GRCm39)	Q229H	possibly damaging	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cep350	T	C	1: 155,736,477 (GRCm39)	D2853G	probably damaging	Het
Cfap161	T	C	7: 83,442,482 (GRCm39)	I110M	probably benign	Het
Chid1	T	A	7: 141,093,678 (GRCm39)	K313*	probably null	Het
Col16a1	T	A	4: 129,947,961 (GRCm39)	I227N	unknown	Het
D3Ertd751e	G	T	3: 41,700,998 (GRCm39)	E6*	probably null	Het
Ddx41	T	C	13: 55,682,250 (GRCm39)	Q208R	probably damaging	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dmrta1	A	T	4: 89,579,682 (GRCm39)	Q214L	probably benign	Het
Eif2ak4	T	C	2: 118,292,765 (GRCm39)	F1330L	possibly damaging	Het
Fbxw13	C	T	9: 109,023,832 (GRCm39)	V71I	probably benign	Het
Hemgn	C	T	4: 46,395,904 (GRCm39)	G444D	probably damaging	Het
Lmtk2	A	G	5: 144,112,876 (GRCm39)	T1199A	probably damaging	Het
Ly75	T	C	2: 60,164,829 (GRCm39)	D783G	probably damaging	Het
Micall1	G	A	15: 79,011,510 (GRCm39)	A627T	probably benign	Het
Morc2a	C	T	11: 3,625,877 (GRCm39)	T159I	probably benign	Het
Mthfr	C	A	4: 148,126,275 (GRCm39)	N115K	probably damaging	Het
Muc1	G	A	3: 89,138,821 (GRCm39)	V477M	possibly damaging	Het
Mug1	C	T	6: 121,859,681 (GRCm39)	P1227S	probably benign	Het
Ogfod3	T	A	11: 121,087,608 (GRCm39)	D163V	possibly damaging	Het
Or51a43	T	A	7: 103,717,483 (GRCm39)	I252F	probably damaging	Het
Pcnx2	C	T	8: 126,500,546 (GRCm39)	V1515I	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plscr3	G	T	11: 69,738,838 (GRCm39)	G167C	probably benign	Het
Plxna4	T	A	6: 32,140,379 (GRCm39)	K1670*	probably null	Het
Prb1c	G	A	6: 132,341,051 (GRCm39)	T7I	unknown	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rnf157	C	A	11: 116,237,891 (GRCm39)	A577S	probably benign	Het
Rnf213	C	T	11: 119,359,720 (GRCm39)	S4371L		Het
S1pr1	A	T	3: 115,505,470 (GRCm39)	S375T	probably benign	Het
Spen	T	C	4: 141,215,314 (GRCm39)	N506S	unknown	Het
Sulf1	T	A	1: 12,878,141 (GRCm39)	Y210N	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tg	A	G	15: 66,555,891 (GRCm39)	N861S	probably damaging	Het
Ttc29	A	G	8: 79,060,331 (GRCm39)	E417G	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubxn7	T	A	16: 32,186,229 (GRCm39)		probably benign	Het
Vmn1r62	C	A	7: 5,678,629 (GRCm39)	Y103*	probably null	Het
Zfp804b	A	T	5: 6,822,378 (GRCm39)	Y228*	probably null	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
R6979:H2-Q2	UTSW	17	35,564,623 (GRCm39)	splice site	probably null
R8248:H2-Q2	UTSW	17	35,563,841 (GRCm39)	missense	probably benign
R8306:H2-Q2	UTSW	17	35,561,301 (GRCm39)	unclassified	probably benign
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'- CACTCTCCAGTGGTTGGTTG -3'
(R):5'- TGCAGTCACTGTGATGAGG -3'

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

Posted On

2021-04-30