Mutagenetix > Incidental Mutation

Incidental Mutation 'R6453:H2-Q2'

520131

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

044589-MU

Accession Numbers

Essential gene?

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

Stock #

R6453 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35561283-35565740 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35563871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 251 (L251F)

Ref Sequence

ENSEMBL: ENSMUSP00000078138 (fasta)

Gene Model

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

AlphaFold

Q4KN81

Predicted Effect

probably benign
Transcript: ENSMUST00000074806
AA Change: L251F

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000078138
Gene: ENSMUSG00000091705
AA Change: L251F

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: 99.9%
3x: 99.6%
10x: 97.6%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	C	T	17: 35,879,109 (GRCm39)	S149L	possibly damaging	Het
A830018L16Rik	A	T	1: 11,868,782 (GRCm39)	D354V	possibly damaging	Het
Acta2	G	A	19: 34,224,057 (GRCm39)	T150I	probably damaging	Het
Adgra1	T	A	7: 139,455,343 (GRCm39)	S324T	probably benign	Het
Ankrd44	A	T	1: 54,696,863 (GRCm39)		probably null	Het
B430306N03Rik	T	A	17: 48,623,764 (GRCm39)	W22R	probably damaging	Het
Ccdc162	A	T	10: 41,426,821 (GRCm39)	V2024E	probably damaging	Het
Cers6	C	T	2: 68,877,513 (GRCm39)	H164Y	probably benign	Het
Chd3	T	A	11: 69,240,938 (GRCm39)	K1458*	probably null	Het
Cimip1	A	G	2: 173,370,052 (GRCm39)	Y109C	probably benign	Het
Col3a1	G	A	1: 45,378,538 (GRCm39)		probably benign	Het
Cyb5d2	T	G	11: 72,673,586 (GRCm39)	T3P	probably benign	Het
Dennd1b	A	G	1: 139,071,686 (GRCm39)	Y468C	probably benign	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Exoc7	T	C	11: 116,184,795 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,173,042 (GRCm39)	I2557T	probably benign	Het
Flt1	T	C	5: 147,620,751 (GRCm39)	D131G	possibly damaging	Het
Frem1	G	T	4: 82,833,062 (GRCm39)	S1858*	probably null	Het
Garem1	T	A	18: 21,281,796 (GRCm39)	I187F	probably damaging	Het
Gldc	A	T	19: 30,093,917 (GRCm39)	I700N	probably damaging	Het
Gpatch4	A	G	3: 87,962,312 (GRCm39)	E175G	probably damaging	Het
Gria2	A	G	3: 80,648,281 (GRCm39)	Y152H	possibly damaging	Het
Hectd4	G	A	5: 121,488,655 (GRCm39)	G3649R	probably damaging	Het
Hormad1	A	G	3: 95,485,568 (GRCm39)	E252G	probably benign	Het
Kif14	A	G	1: 136,410,042 (GRCm39)		probably null	Het
Lmcd1	A	G	6: 112,292,789 (GRCm39)	T214A	probably benign	Het
Macrod2	A	G	2: 142,018,545 (GRCm39)	E226G	probably damaging	Het
Mcm4	A	T	16: 15,448,273 (GRCm39)	L428Q	probably damaging	Het
Msh6	T	A	17: 88,293,167 (GRCm39)	Y641N	probably damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Nipa2	A	T	7: 55,585,569 (GRCm39)	M142K	probably damaging	Het
Or8b1c	T	C	9: 38,384,871 (GRCm39)	I276T	probably benign	Het
Parvg	A	T	15: 84,213,126 (GRCm39)	E122V	probably null	Het
Pclo	T	A	5: 14,726,803 (GRCm39)		probably benign	Het
Pik3cd	A	G	4: 149,736,759 (GRCm39)	V933A	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Qpctl	C	T	7: 18,875,222 (GRCm39)	V337I	probably damaging	Het
Qrfprl	G	A	6: 65,430,014 (GRCm39)	G237S	possibly damaging	Het
Ralgapa1	A	G	12: 55,785,104 (GRCm39)	W719R	probably damaging	Het
Rangrf	A	G	11: 68,864,378 (GRCm39)	L28P	probably damaging	Het
Rbbp9	G	T	2: 144,391,054 (GRCm39)	Q38K	probably benign	Het
Rnf169	C	T	7: 99,584,434 (GRCm39)	M246I	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Sdk1	A	G	5: 142,082,676 (GRCm39)	D1098G	probably damaging	Het
Sgsm3	T	A	15: 80,895,515 (GRCm39)	S689T	probably damaging	Het
Slc13a3	C	T	2: 165,253,867 (GRCm39)	V429M	possibly damaging	Het
Slc30a5	A	T	13: 100,951,197 (GRCm39)	D228E	probably benign	Het
Slc46a3	A	G	5: 147,823,200 (GRCm39)	I214T	possibly damaging	Het
Slc7a15	T	C	12: 8,584,490 (GRCm39)	M347V	possibly damaging	Het
Slc9a2	A	T	1: 40,781,781 (GRCm39)	I337F	possibly damaging	Het
Sostdc1	C	A	12: 36,364,407 (GRCm39)	P39T	probably benign	Het
Speg	A	G	1: 75,394,616 (GRCm39)	N1775S	probably benign	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Sptbn2	A	T	19: 4,794,208 (GRCm39)	R1471W	possibly damaging	Het
Thada	T	C	17: 84,723,751 (GRCm39)	E1101G	probably damaging	Het
Trpm6	G	A	19: 18,807,354 (GRCm39)	A1033T	probably damaging	Het
Ttll6	G	A	11: 96,049,553 (GRCm39)	R757H	probably benign	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
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
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'- CGACAGTTGTAGTGTCAAACAGAC -3'
(R):5'- AAAGGCTCCAGCTTTCCCTG -3'

Sequencing Primer
(F):5'- TCACTGTCATCATTGATTTAACTGAG -3'
(R):5'- TGACCCCAGCTCTGCAC -3'

Posted On

2018-06-06