Mutagenetix > Incidental Mutation

Incidental Mutation 'R6548:Mug2'

521359

Institutional Source

Beutler Lab

Gene Symbol

Mug2

Ensembl Gene

ENSMUSG00000030131

Gene Name

murinoglobulin 2

Synonyms

MMRRC Submission

044673-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R6548 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121983720-122062924 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122024401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 491 (A491V)

Ref Sequence

ENSEMBL: ENSMUSP00000080469 (fasta)

Gene Model

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

AlphaFold

P28666

Predicted Effect

probably damaging
Transcript: ENSMUST00000081777
AA Change: A491V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: A491V

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: 99.3%
20x: 97.7%

Validation Efficiency

93% (38/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	T	C	10: 43,050,769 (GRCm39)	L21P	probably damaging	Het
Ank3	C	T	10: 69,728,240 (GRCm39)	A642V	probably damaging	Het
Bap1	A	G	14: 30,978,182 (GRCm39)	N349S	probably benign	Het
Brca1	G	T	11: 101,415,591 (GRCm39)	Q32K	probably damaging	Het
Ccdc39	A	T	3: 33,892,108 (GRCm39)	N121K	probably benign	Het
Champ1	A	T	8: 13,930,002 (GRCm39)	N720I	probably damaging	Het
Chd3	T	A	11: 69,252,886 (GRCm39)	R216*	probably null	Het
D630003M21Rik	A	G	2: 158,047,619 (GRCm39)		probably null	Het
Exoc2	A	T	13: 31,010,047 (GRCm39)	V804E	possibly damaging	Het
Fcgbp	A	G	7: 27,791,343 (GRCm39)	N868S	probably benign	Het
Gm10376	T	C	14: 42,873,025 (GRCm39)	M1V	probably null	Het
Gpc2	G	A	5: 138,275,533 (GRCm39)		probably null	Het
Gpr37	G	A	6: 25,688,812 (GRCm39)	T95I	probably benign	Het
Ints3	G	A	3: 90,299,431 (GRCm39)		probably benign	Het
Krt28	T	C	11: 99,257,839 (GRCm39)	E334G	probably damaging	Het
Lrrc75a	T	A	11: 62,496,921 (GRCm39)	T214S	probably damaging	Het
Lyar	A	G	5: 38,385,202 (GRCm39)	I81V	probably benign	Het
Mon2	A	T	10: 122,871,998 (GRCm39)	L342Q	probably damaging	Het
Myh2	A	G	11: 67,077,438 (GRCm39)	T858A	probably benign	Het
Net1	C	T	13: 3,936,074 (GRCm39)		probably null	Het
Or52s1	T	A	7: 102,861,111 (GRCm39)	Y4N	probably benign	Het
Or5p76	T	C	7: 108,122,423 (GRCm39)	T245A	probably benign	Het
Platr25	A	T	13: 62,821,623 (GRCm39)	I110N	possibly damaging	Het
Plk5	T	A	10: 80,198,879 (GRCm39)	L412H	probably damaging	Het
Rasal1	A	T	5: 120,812,790 (GRCm39)	T605S	probably benign	Het
Ryr2	T	A	13: 11,683,707 (GRCm39)	D3119V	probably damaging	Het
Serpina1a	G	T	12: 103,820,017 (GRCm39)	H387N	probably benign	Het
Serpina1d	G	T	12: 103,733,811 (GRCm39)	N164K	probably damaging	Het
Smurf1	A	G	5: 144,836,307 (GRCm39)	Y69H	probably damaging	Het
Sod2	A	G	17: 13,227,250 (GRCm39)	K68R	probably benign	Het
Ssbp2	A	G	13: 91,687,470 (GRCm39)	N51S	possibly damaging	Het
Tcl1b1	A	G	12: 105,130,663 (GRCm39)	R49G	probably benign	Het
Tgfb1	A	G	7: 25,396,350 (GRCm39)	I214M	probably benign	Het
Tln1	A	G	4: 43,547,525 (GRCm39)	I812T	probably damaging	Het
Topaz1	T	A	9: 122,577,419 (GRCm39)	C110S	possibly damaging	Het
Ubap2l	A	G	3: 89,930,867 (GRCm39)	F393L	probably damaging	Het
Vmn1r62	G	A	7: 5,678,769 (GRCm39)	G150D	probably damaging	Het
Wdr24	C	A	17: 26,046,899 (GRCm39)	Q651K	probably damaging	Het
Wdr7	A	G	18: 63,911,322 (GRCm39)	T905A	possibly damaging	Het
Zfyve26	A	G	12: 79,285,109 (GRCm39)	F2382S	probably 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
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
R8823:Mug2	UTSW	6	122,040,648 (GRCm39)	missense	possibly damaging	0.89
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'- CTGTCCCAGAAGCTGTTAGC -3'
(R):5'- TCTGAAGGTTGGTATGATTGAGAAC -3'

Sequencing Primer
(F):5'- GCTGTTAGCTTCTGTAGTGCACAC -3'
(R):5'- CAAAGCCATGAGTTCCTACTGTGG -3'

Posted On

2018-06-06