Mutagenetix > Incidental Mutation

Incidental Mutation 'R8823:Mug2'

673274

Institutional Source

Beutler Lab

Gene Symbol

Mug2

Ensembl Gene

ENSMUSG00000030131

Gene Name

murinoglobulin 2

Synonyms

MMRRC Submission

068656-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121983720-122062924 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122040648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 733 (I733F)

Ref Sequence

ENSEMBL: ENSMUSP00000080469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081777]

AlphaFold

P28666

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081777
AA Change: I733F

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: I733F

Domain	Start	End	E-Value	Type
Pfam:A2M_N	128	221	3.5e-21	PFAM
A2M_N_2	449	599	1.05e-42	SMART
low complexity region	711	728	N/A	INTRINSIC
A2M	740	830	7.16e-36	SMART
Pfam:Thiol-ester_cl	963	992	1e-18	PFAM
low complexity region	994	1005	N/A	INTRINSIC
Pfam:A2M_comp	1012	1097	5.8e-34	PFAM
Pfam:A2M_comp	1093	1243	3e-47	PFAM
A2M_recep	1353	1440	1.85e-38	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	T	A	8: 41,133,228 (GRCm39)	I232K	probably benign	Het
Ap5z1	T	C	5: 142,460,191 (GRCm39)	L506P	probably benign	Het
Atg5lrt	A	T	10: 95,972,633 (GRCm39)	I57F	possibly damaging	Het
Ceacam20	A	T	7: 19,705,429 (GRCm39)	Y140F	probably damaging	Het
Chfr	G	A	5: 110,300,258 (GRCm39)	R334H	probably damaging	Het
Emx2	A	G	19: 59,447,880 (GRCm39)	H78R	probably damaging	Het
Etnppl	G	A	3: 130,420,195 (GRCm39)	G204R	probably damaging	Het
Fah	A	G	7: 84,254,925 (GRCm39)	F3L	possibly damaging	Het
Galnt12	G	T	4: 47,091,928 (GRCm39)		probably benign	Het
Gbx1	A	G	5: 24,710,051 (GRCm39)	S265P	probably damaging	Het
Gm17087	A	G	17: 8,785,233 (GRCm39)	*157R	probably null	Het
Grin2a	T	A	16: 9,487,758 (GRCm39)	N380I	possibly damaging	Het
Grip1	C	T	10: 119,811,856 (GRCm39)	T269I		Het
Hace1	T	C	10: 45,524,956 (GRCm39)	Y241H	probably damaging	Het
Hrc	A	G	7: 44,985,722 (GRCm39)	D291G	possibly damaging	Het
Ifi208	A	G	1: 173,511,102 (GRCm39)	Y419C	probably damaging	Het
Ighv8-5	A	G	12: 115,031,267 (GRCm39)	S91P	probably damaging	Het
Igkv15-103	T	C	6: 68,414,855 (GRCm39)	L98P	probably damaging	Het
Igsf5	C	T	16: 96,222,939 (GRCm39)	S61L	possibly damaging	Het
Ipo9	A	G	1: 135,347,077 (GRCm39)	W138R	probably damaging	Het
Kank4	A	T	4: 98,668,240 (GRCm39)	L69Q	probably damaging	Het
Kcnd3	T	C	3: 105,574,330 (GRCm39)	I505T	probably benign	Het
Lrtm2	T	A	6: 119,294,193 (GRCm39)	I313F	probably damaging	Het
Myh2	A	T	11: 67,076,300 (GRCm39)	R800S	probably damaging	Het
Myo1d	A	T	11: 80,492,571 (GRCm39)	I728N	possibly damaging	Het
Or10a3n	A	G	7: 108,493,155 (GRCm39)	I158T	probably benign	Het
Pdcd1	T	C	1: 93,969,220 (GRCm39)	R33G	probably benign	Het
Polr1b	T	C	2: 128,967,457 (GRCm39)	F950S	probably damaging	Het
Prpf8	T	A	11: 75,384,282 (GRCm39)	M697K	probably benign	Het
Psmc2	T	A	5: 22,005,574 (GRCm39)	D218E	probably damaging	Het
Ptpn12	A	G	5: 21,203,621 (GRCm39)	Y386H	probably damaging	Het
Rilpl2	C	T	5: 124,606,716 (GRCm39)	R166K	possibly damaging	Het
Rtn4	T	A	11: 29,656,609 (GRCm39)	N254K	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sesn3	T	A	9: 14,221,536 (GRCm39)		probably benign	Het
Slc35b2	T	A	17: 45,877,894 (GRCm39)	H291Q	probably damaging	Het
Slc38a3	A	C	9: 107,533,150 (GRCm39)	Y308D	probably damaging	Het
Snrpd2	T	C	7: 18,886,535 (GRCm39)	V106A	probably benign	Het
Sybu	C	A	15: 44,540,998 (GRCm39)	A355S	possibly damaging	Het
Tes3-ps	A	T	13: 49,647,692 (GRCm39)	R189S	probably benign	Het
Trmo	T	C	4: 46,382,604 (GRCm39)	D164G	probably damaging	Het
Vmn1r225	A	G	17: 20,722,823 (GRCm39)	Q88R	probably benign	Het
Xkr9	T	C	1: 13,742,832 (GRCm39)	V39A	probably benign	Het
Xpo1	A	T	11: 23,217,752 (GRCm39)	M73L	probably benign	Het
Zbtb21	G	A	16: 97,752,516 (GRCm39)	T589I	probably damaging	Het
Zbtb41	A	G	1: 139,350,892 (GRCm39)	K2E	probably damaging	Het
Zfp105	A	G	9: 122,759,568 (GRCm39)	K413R	possibly damaging	Het

Other mutations in Mug2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Mug2	APN	6	122,024,446 (GRCm39)	missense	possibly damaging	0.83
IGL00957:Mug2	APN	6	122,017,613 (GRCm39)	missense	probably damaging	0.99
IGL01314:Mug2	APN	6	122,058,238 (GRCm39)	missense	possibly damaging	0.62
IGL01338:Mug2	APN	6	122,026,587 (GRCm39)	splice site	probably benign
IGL01477:Mug2	APN	6	122,058,643 (GRCm39)	splice site	probably benign
IGL01926:Mug2	APN	6	122,013,063 (GRCm39)	splice site	probably benign
IGL02019:Mug2	APN	6	122,024,394 (GRCm39)	missense	probably benign	0.02
IGL02305:Mug2	APN	6	122,013,015 (GRCm39)	missense	probably benign
IGL02310:Mug2	APN	6	122,036,082 (GRCm39)	splice site	probably benign
IGL02484:Mug2	APN	6	122,049,712 (GRCm39)	missense	probably damaging	1.00
IGL02516:Mug2	APN	6	122,047,802 (GRCm39)	missense	probably damaging	1.00
IGL02531:Mug2	APN	6	122,049,730 (GRCm39)	missense	probably damaging	1.00
IGL02666:Mug2	APN	6	122,058,285 (GRCm39)	missense	probably damaging	1.00
IGL02936:Mug2	APN	6	122,058,346 (GRCm39)	critical splice donor site	probably null
R0114:Mug2	UTSW	6	122,017,607 (GRCm39)	missense	probably damaging	1.00
R0119:Mug2	UTSW	6	122,013,022 (GRCm39)	missense	probably benign	0.00
R0123:Mug2	UTSW	6	122,051,673 (GRCm39)	missense	possibly damaging	0.89
R0144:Mug2	UTSW	6	122,047,970 (GRCm39)	splice site	probably benign
R0225:Mug2	UTSW	6	122,051,673 (GRCm39)	missense	possibly damaging	0.89
R0514:Mug2	UTSW	6	122,058,558 (GRCm39)	missense	probably damaging	1.00
R0763:Mug2	UTSW	6	122,052,253 (GRCm39)	missense	probably benign
R0959:Mug2	UTSW	6	122,062,454 (GRCm39)	missense	probably benign	0.33
R1104:Mug2	UTSW	6	122,036,014 (GRCm39)	missense	probably benign
R1239:Mug2	UTSW	6	122,058,637 (GRCm39)	splice site	probably benign
R1318:Mug2	UTSW	6	122,054,361 (GRCm39)	missense	probably damaging	1.00
R1460:Mug2	UTSW	6	122,017,492 (GRCm39)	splice site	probably benign
R1706:Mug2	UTSW	6	122,013,191 (GRCm39)	splice site	probably benign
R1761:Mug2	UTSW	6	122,051,664 (GRCm39)	missense	probably benign	0.20
R1901:Mug2	UTSW	6	122,048,801 (GRCm39)	missense	probably benign	0.02
R1913:Mug2	UTSW	6	122,047,829 (GRCm39)	missense	probably damaging	1.00
R1943:Mug2	UTSW	6	122,056,598 (GRCm39)	missense	probably benign
R2054:Mug2	UTSW	6	122,054,451 (GRCm39)	missense	probably damaging	1.00
R2060:Mug2	UTSW	6	122,056,571 (GRCm39)	missense	probably benign
R2420:Mug2	UTSW	6	122,060,419 (GRCm39)	missense	probably damaging	1.00
R2432:Mug2	UTSW	6	122,061,335 (GRCm39)	missense	possibly damaging	0.93
R2916:Mug2	UTSW	6	122,051,683 (GRCm39)	splice site	probably null
R2918:Mug2	UTSW	6	122,051,683 (GRCm39)	splice site	probably null
R3423:Mug2	UTSW	6	122,024,465 (GRCm39)	splice site	probably benign
R3834:Mug2	UTSW	6	122,026,746 (GRCm39)	critical splice donor site	probably null
R3902:Mug2	UTSW	6	122,052,526 (GRCm39)	missense	probably damaging	1.00
R3941:Mug2	UTSW	6	122,040,522 (GRCm39)	missense	probably benign
R4227:Mug2	UTSW	6	122,017,691 (GRCm39)	missense	probably benign	0.10
R4284:Mug2	UTSW	6	122,040,632 (GRCm39)	missense	probably benign	0.00
R4287:Mug2	UTSW	6	122,040,632 (GRCm39)	missense	probably benign	0.00
R4377:Mug2	UTSW	6	122,047,966 (GRCm39)	critical splice donor site	probably null
R4419:Mug2	UTSW	6	122,056,589 (GRCm39)	missense	probably damaging	1.00
R4498:Mug2	UTSW	6	122,059,711 (GRCm39)	missense	probably damaging	0.99
R4566:Mug2	UTSW	6	122,056,597 (GRCm39)	missense	probably benign	0.00
R4690:Mug2	UTSW	6	122,013,255 (GRCm39)	missense	probably benign
R4732:Mug2	UTSW	6	122,048,831 (GRCm39)	missense	probably damaging	0.99
R4733:Mug2	UTSW	6	122,048,831 (GRCm39)	missense	probably damaging	0.99
R4741:Mug2	UTSW	6	122,056,572 (GRCm39)	missense	probably benign
R4888:Mug2	UTSW	6	122,058,154 (GRCm39)	missense	probably damaging	1.00
R5199:Mug2	UTSW	6	122,017,619 (GRCm39)	missense	probably benign
R5347:Mug2	UTSW	6	122,058,551 (GRCm39)	missense	probably damaging	1.00
R5457:Mug2	UTSW	6	122,026,688 (GRCm39)	nonsense	probably null
R5495:Mug2	UTSW	6	122,056,609 (GRCm39)	missense	probably damaging	0.96
R5509:Mug2	UTSW	6	122,061,340 (GRCm39)	missense	possibly damaging	0.84
R6006:Mug2	UTSW	6	122,060,459 (GRCm39)	missense	probably null	0.98
R6180:Mug2	UTSW	6	122,056,565 (GRCm39)	missense	probably benign	0.01
R6184:Mug2	UTSW	6	122,014,005 (GRCm39)	missense	probably benign
R6199:Mug2	UTSW	6	122,024,398 (GRCm39)	missense	probably benign	0.05
R6262:Mug2	UTSW	6	122,052,214 (GRCm39)	missense	probably damaging	1.00
R6416:Mug2	UTSW	6	122,059,713 (GRCm39)	missense	probably damaging	1.00
R6548:Mug2	UTSW	6	122,024,401 (GRCm39)	missense	probably damaging	1.00
R6703:Mug2	UTSW	6	122,055,653 (GRCm39)	missense	probably benign	0.25
R7106:Mug2	UTSW	6	122,059,680 (GRCm39)	missense	probably damaging	1.00
R7131:Mug2	UTSW	6	122,052,206 (GRCm39)	missense	probably damaging	1.00
R7372:Mug2	UTSW	6	122,060,425 (GRCm39)	missense	possibly damaging	0.88
R7379:Mug2	UTSW	6	122,024,446 (GRCm39)	missense	possibly damaging	0.83
R7419:Mug2	UTSW	6	122,017,529 (GRCm39)	missense	possibly damaging	0.86
R7423:Mug2	UTSW	6	122,056,685 (GRCm39)	missense	probably benign	0.00
R7581:Mug2	UTSW	6	122,040,670 (GRCm39)	missense	probably damaging	1.00
R7582:Mug2	UTSW	6	122,056,603 (GRCm39)	missense	probably damaging	0.99
R7672:Mug2	UTSW	6	122,017,678 (GRCm39)	missense	probably benign	0.37
R7713:Mug2	UTSW	6	122,055,754 (GRCm39)	missense	possibly damaging	0.83
R7759:Mug2	UTSW	6	122,058,317 (GRCm39)	missense	probably damaging	1.00
R7834:Mug2	UTSW	6	122,013,241 (GRCm39)	missense	probably benign
R7850:Mug2	UTSW	6	122,052,170 (GRCm39)	missense	probably damaging	1.00
R8029:Mug2	UTSW	6	122,058,504 (GRCm39)	critical splice acceptor site	probably null
R8127:Mug2	UTSW	6	122,052,567 (GRCm39)	missense	probably benign	0.01
R8335:Mug2	UTSW	6	122,017,543 (GRCm39)	missense	probably benign
R8348:Mug2	UTSW	6	122,049,192 (GRCm39)	nonsense	probably null
R8557:Mug2	UTSW	6	122,040,660 (GRCm39)	missense	probably damaging	0.99
R8798:Mug2	UTSW	6	122,058,569 (GRCm39)	missense	probably damaging	1.00
R9029:Mug2	UTSW	6	122,061,328 (GRCm39)	missense	probably damaging	1.00
R9153:Mug2	UTSW	6	122,017,627 (GRCm39)	missense	possibly damaging	0.71
R9185:Mug2	UTSW	6	122,054,442 (GRCm39)	missense	probably benign	0.06
R9186:Mug2	UTSW	6	122,052,248 (GRCm39)	missense	probably damaging	0.99
R9418:Mug2	UTSW	6	122,017,700 (GRCm39)	missense	probably benign	0.00
R9464:Mug2	UTSW	6	122,028,690 (GRCm39)	missense	probably benign	0.01
R9622:Mug2	UTSW	6	122,028,751 (GRCm39)	missense	probably benign	0.29
Z1177:Mug2	UTSW	6	122,014,080 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACTACACCACTATGTTCCATTG -3'
(R):5'- ATTTTAACTATCAGGCAGGTACGTG -3'

Sequencing Primer
(F):5'- ACACCACTATGTTCCATTGAATTC -3'
(R):5'- CAGGCAGGTACGTGATAGTTTTTATG -3'

Posted On

2021-07-15