Mutagenetix > Incidental Mutation

Incidental Mutation 'R6633:H2-Q2'

525353

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

044755-MU

Accession Numbers

Essential gene?

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

Stock #

R6633 (G1)

Quality Score

209.009

Status

Validated

Chromosome

Chromosomal Location

35561283-35565740 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35561363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 19 (T19A)

Ref Sequence

ENSEMBL: ENSMUSP00000078138 (fasta)

Gene Model

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

AlphaFold

Q4KN81

Predicted Effect

probably damaging
Transcript: ENSMUST00000074806
AA Change: T19A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078138
Gene: ENSMUSG00000091705
AA Change: T19A

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: 99.5%
10x: 97.7%
20x: 92.8%

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
Aatf	C	A	11: 84,402,308 (GRCm39)		probably null	Het
Acot7	C	T	4: 152,262,716 (GRCm39)	P30L	probably benign	Het
Adam24	T	G	8: 41,133,526 (GRCm39)	D331E	probably benign	Het
Adamdec1	T	C	14: 68,810,601 (GRCm39)	D185G	probably benign	Het
Adgrg7	T	C	16: 56,550,649 (GRCm39)	I688V	probably benign	Het
Adgrv1	A	T	13: 81,716,762 (GRCm39)	F779I	probably damaging	Het
Agtr1a	A	G	13: 30,565,450 (GRCm39)	I172V	probably benign	Het
Anapc4	C	T	5: 53,023,288 (GRCm39)	H710Y	possibly damaging	Het
Arf1	T	C	11: 59,103,370 (GRCm39)	N179S	probably benign	Het
Arhgef40	C	T	14: 52,234,888 (GRCm39)	P1064S	probably damaging	Het
Btnl1	A	G	17: 34,604,305 (GRCm39)	N362S	possibly damaging	Het
Ccdc80	T	C	16: 44,915,271 (GRCm39)	F9S	possibly damaging	Het
Ccdc96	G	A	5: 36,642,533 (GRCm39)	E180K	probably benign	Het
Cdh2	A	T	18: 16,773,605 (GRCm39)	N241K	probably benign	Het
Cdk8	C	A	5: 146,235,656 (GRCm39)	S261*	probably null	Het
Csf2rb2	T	C	15: 78,173,152 (GRCm39)	E236G	probably benign	Het
Dgcr8	A	T	16: 18,102,046 (GRCm39)	S79T	possibly damaging	Het
Dnah5	A	T	15: 28,293,933 (GRCm39)	Y1346F	probably benign	Het
Dock6	A	G	9: 21,731,627 (GRCm39)	V1194A	probably benign	Het
Dock6	A	G	9: 21,732,799 (GRCm39)	S1129P	probably damaging	Het
Ephb2	C	G	4: 136,411,307 (GRCm39)	S451T	probably benign	Het
Esco1	T	A	18: 10,595,738 (GRCm39)		probably benign	Het
Fcer1a	C	G	1: 173,054,293 (GRCm39)		probably null	Het
Gbx2	TCCCCC	TCCCCCC	1: 89,856,442 (GRCm39)		probably null	Het
Gm44511	T	A	6: 128,803,205 (GRCm39)	D2V	probably damaging	Het
Herc1	G	T	9: 66,346,534 (GRCm39)	E1967*	probably null	Het
Hic1	G	T	11: 75,060,324 (GRCm39)	H8N	unknown	Het
Irx4	G	T	13: 73,416,545 (GRCm39)	A314S	probably benign	Het
Jarid2	C	A	13: 45,038,353 (GRCm39)	H84N	probably damaging	Het
Klk1b27	A	T	7: 43,705,234 (GRCm39)	I134F	probably damaging	Het
Kprp	T	C	3: 92,732,600 (GRCm39)	Y150C	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lrp10	T	C	14: 54,706,531 (GRCm39)	V489A	probably benign	Het
Mrgpra6	A	G	7: 46,838,493 (GRCm39)	I235T	possibly damaging	Het
Naip1	A	G	13: 100,559,584 (GRCm39)	M1140T	probably benign	Het
Naip1	C	T	13: 100,559,593 (GRCm39)	R1137Q	probably benign	Het
Or4c12	T	C	2: 89,773,710 (GRCm39)	I250V	probably benign	Het
Plcl2	A	G	17: 50,947,168 (GRCm39)	I1016V	probably benign	Het
Plekhb1	A	G	7: 100,294,846 (GRCm39)	Y122H	probably damaging	Het
Polr2a	A	G	11: 69,626,339 (GRCm39)	S1604P	possibly damaging	Het
Ppp6r2	G	A	15: 89,137,458 (GRCm39)		probably null	Het
Rag1	T	A	2: 101,473,055 (GRCm39)	R696W	probably damaging	Het
Rusc2	T	C	4: 43,414,852 (GRCm39)	F53L	probably damaging	Het
Rxylt1	G	A	10: 121,932,958 (GRCm39)	R7W	probably damaging	Het
Tango6	T	C	8: 107,444,637 (GRCm39)	V514A	probably benign	Het
Tex30	A	C	1: 44,127,084 (GRCm39)	H64Q	probably benign	Het
Tmbim7	A	G	5: 3,707,659 (GRCm39)		probably null	Het
Tpcn1	A	G	5: 120,682,529 (GRCm39)	M493T	probably benign	Het
Tpx2	T	G	2: 152,709,274 (GRCm39)	F35V	probably damaging	Het
Vmn1r3	G	A	4: 3,184,971 (GRCm39)	T112I	probably benign	Het
Wnt2b	T	C	3: 104,858,372 (GRCm39)	Y299C	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
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'- GCAGGTCTCATTTCCATTGGG -3'
(R):5'- AATACCGCAGCGAGTGTGAG -3'

Sequencing Primer
(F):5'- CATTGGGTGGCAGGATCC -3'
(R):5'- CGAGTGTGAGCCTGTGGAC -3'

Posted On

2018-06-22