Mutagenetix > Incidental Mutation

Incidental Mutation 'R7379:Mug2'

572577

Institutional Source

Beutler Lab

Gene Symbol

Mug2

Ensembl Gene

ENSMUSG00000030131

Gene Name

murinoglobulin 2

Synonyms

MMRRC Submission

045461-MU

Accession Numbers

Essential gene?

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

Stock #

R7379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122006761-122085965 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122047487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 506 (E506G)

Ref Sequence

ENSEMBL: ENSMUSP00000080469 (fasta)

Gene Model

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

AlphaFold

P28666

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081777
AA Change: E506G

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: E506G

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

Meta Mutation Damage Score

0.3158

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	G	A	17: 65,985,247 (GRCm38)	R1064*	probably null	Het
Ccdc149	A	G	5: 52,405,066 (GRCm38)	I206T	probably damaging	Het
Ctu1	AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG	AGGACCGGGCAGGAGCCACCTGTGTATCGCAG	7: 43,677,066 (GRCm38)		probably benign	Het
Cyp2j6	T	C	4: 96,525,946 (GRCm38)	T361A	probably damaging	Het
Cyp4a14	A	T	4: 115,493,710 (GRCm38)		probably null	Het
Cyp7b1	A	G	3: 18,097,374 (GRCm38)	V225A	probably benign	Het
Esf1	A	G	2: 140,154,934 (GRCm38)	I503T	probably benign	Het
Flrt2	G	A	12: 95,780,555 (GRCm38)	V556I	possibly damaging	Het
Gaa	T	C	11: 119,283,699 (GRCm38)	S791P	probably benign	Het
H2-T22	A	G	17: 36,042,340 (GRCm38)		probably null	Het
Hexb	A	G	13: 97,181,164 (GRCm38)	S342P	probably damaging	Het
Ift122	C	T	6: 115,926,302 (GRCm38)	R1176C	probably benign	Het
Ift57	A	G	16: 49,760,994 (GRCm38)	E341G	probably damaging	Het
Itpkc	A	T	7: 27,227,769 (GRCm38)	I240K	probably benign	Het
Kit	A	T	5: 75,647,752 (GRCm38)	S719C	probably damaging	Het
Klf1	T	A	8: 84,903,217 (GRCm38)	Y224N	possibly damaging	Het
Krt77	T	C	15: 101,861,274 (GRCm38)	E387G	probably damaging	Het
L3mbtl1	T	A	2: 162,960,979 (GRCm38)	D347E	probably damaging	Het
Map1s	A	G	8: 70,913,575 (GRCm38)	T375A	possibly damaging	Het
Mturn	A	G	6: 54,689,084 (GRCm38)	T81A	possibly damaging	Het
Notch1	A	G	2: 26,479,467 (GRCm38)	F512S	probably damaging	Het
Or10g1	T	C	14: 52,410,261 (GRCm38)	T204A	probably benign	Het
Or12e13	T	A	2: 87,833,779 (GRCm38)	C247S	probably damaging	Het
Or4c12b	T	A	2: 89,816,689 (GRCm38)	V115E	probably benign	Het
Or9s14	G	T	1: 92,608,467 (GRCm38)	C210F	possibly damaging	Het
Pcdhga10	A	G	18: 37,747,566 (GRCm38)	N127D	probably damaging	Het
Plb1	A	G	5: 32,345,639 (GRCm38)	I1148V	probably damaging	Het
Plcb1	A	G	2: 135,370,510 (GRCm38)	D1007G	probably benign	Het
Prdm16	T	A	4: 154,528,859 (GRCm38)	E37V	probably damaging	Het
Prss45	C	A	9: 110,839,193 (GRCm38)	N151K	possibly damaging	Het
Rngtt	A	T	4: 33,498,981 (GRCm38)	K513*	probably null	Het
Serpinb10	T	C	1: 107,532,387 (GRCm38)		probably benign	Het
Shc1	T	C	3: 89,426,822 (GRCm38)	V402A	probably benign	Het
Slc25a38	T	A	9: 120,120,836 (GRCm38)	L227Q	probably benign	Het
Slc6a13	A	T	6: 121,336,839 (GRCm38)	K514*	probably null	Het
Sorcs3	T	C	19: 48,772,266 (GRCm38)	V911A	possibly damaging	Het
Sptb	A	T	12: 76,610,877 (GRCm38)	I1290N	probably damaging	Het
Sptbn1	T	C	11: 30,139,292 (GRCm38)	K657E	possibly damaging	Het
Stpg4	T	A	17: 87,427,640 (GRCm38)		probably null	Het
Stx2	A	G	5: 128,987,799 (GRCm38)	V278A	possibly damaging	Het
Thoc1	A	T	18: 9,992,902 (GRCm38)	N558I	probably benign	Het
Trpm2	T	C	10: 77,914,734 (GRCm38)	T1343A	probably benign	Het
Usf3	T	A	16: 44,220,576 (GRCm38)	D1806E	probably benign	Het
Vmn2r106	C	T	17: 20,267,775 (GRCm38)	M787I	possibly damaging	Het
Wdfy4	A	G	14: 33,151,609 (GRCm38)	S248P		Het
Zeb2	G	T	2: 45,001,817 (GRCm38)		probably null	Het

Other mutations in Mug2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Mug2	APN	6	122,047,487 (GRCm38)	missense	possibly damaging	0.83
IGL00957:Mug2	APN	6	122,040,654 (GRCm38)	missense	probably damaging	0.99
IGL01314:Mug2	APN	6	122,081,279 (GRCm38)	missense	possibly damaging	0.62
IGL01338:Mug2	APN	6	122,049,628 (GRCm38)	splice site	probably benign
IGL01477:Mug2	APN	6	122,081,684 (GRCm38)	splice site	probably benign
IGL01926:Mug2	APN	6	122,036,104 (GRCm38)	splice site	probably benign
IGL02019:Mug2	APN	6	122,047,435 (GRCm38)	missense	probably benign	0.02
IGL02305:Mug2	APN	6	122,036,056 (GRCm38)	missense	probably benign
IGL02310:Mug2	APN	6	122,059,123 (GRCm38)	splice site	probably benign
IGL02484:Mug2	APN	6	122,072,753 (GRCm38)	missense	probably damaging	1.00
IGL02516:Mug2	APN	6	122,070,843 (GRCm38)	missense	probably damaging	1.00
IGL02531:Mug2	APN	6	122,072,771 (GRCm38)	missense	probably damaging	1.00
IGL02666:Mug2	APN	6	122,081,326 (GRCm38)	missense	probably damaging	1.00
IGL02936:Mug2	APN	6	122,081,387 (GRCm38)	critical splice donor site	probably null
R0114:Mug2	UTSW	6	122,040,648 (GRCm38)	missense	probably damaging	1.00
R0119:Mug2	UTSW	6	122,036,063 (GRCm38)	missense	probably benign	0.00
R0123:Mug2	UTSW	6	122,074,714 (GRCm38)	missense	possibly damaging	0.89
R0144:Mug2	UTSW	6	122,071,011 (GRCm38)	splice site	probably benign
R0225:Mug2	UTSW	6	122,074,714 (GRCm38)	missense	possibly damaging	0.89
R0514:Mug2	UTSW	6	122,081,599 (GRCm38)	missense	probably damaging	1.00
R0763:Mug2	UTSW	6	122,075,294 (GRCm38)	missense	probably benign
R0959:Mug2	UTSW	6	122,085,495 (GRCm38)	missense	probably benign	0.33
R1104:Mug2	UTSW	6	122,059,055 (GRCm38)	missense	probably benign
R1239:Mug2	UTSW	6	122,081,678 (GRCm38)	splice site	probably benign
R1318:Mug2	UTSW	6	122,077,402 (GRCm38)	missense	probably damaging	1.00
R1460:Mug2	UTSW	6	122,040,533 (GRCm38)	splice site	probably benign
R1706:Mug2	UTSW	6	122,036,232 (GRCm38)	splice site	probably benign
R1761:Mug2	UTSW	6	122,074,705 (GRCm38)	missense	probably benign	0.20
R1901:Mug2	UTSW	6	122,071,842 (GRCm38)	missense	probably benign	0.02
R1913:Mug2	UTSW	6	122,070,870 (GRCm38)	missense	probably damaging	1.00
R1943:Mug2	UTSW	6	122,079,639 (GRCm38)	missense	probably benign
R2054:Mug2	UTSW	6	122,077,492 (GRCm38)	missense	probably damaging	1.00
R2060:Mug2	UTSW	6	122,079,612 (GRCm38)	missense	probably benign
R2420:Mug2	UTSW	6	122,083,460 (GRCm38)	missense	probably damaging	1.00
R2432:Mug2	UTSW	6	122,084,376 (GRCm38)	missense	possibly damaging	0.93
R2916:Mug2	UTSW	6	122,074,724 (GRCm38)	splice site	probably null
R2918:Mug2	UTSW	6	122,074,724 (GRCm38)	splice site	probably null
R3423:Mug2	UTSW	6	122,047,506 (GRCm38)	splice site	probably benign
R3834:Mug2	UTSW	6	122,049,787 (GRCm38)	critical splice donor site	probably null
R3902:Mug2	UTSW	6	122,075,567 (GRCm38)	missense	probably damaging	1.00
R3941:Mug2	UTSW	6	122,063,563 (GRCm38)	missense	probably benign
R4227:Mug2	UTSW	6	122,040,732 (GRCm38)	missense	probably benign	0.10
R4284:Mug2	UTSW	6	122,063,673 (GRCm38)	missense	probably benign	0.00
R4287:Mug2	UTSW	6	122,063,673 (GRCm38)	missense	probably benign	0.00
R4377:Mug2	UTSW	6	122,071,007 (GRCm38)	critical splice donor site	probably null
R4419:Mug2	UTSW	6	122,079,630 (GRCm38)	missense	probably damaging	1.00
R4498:Mug2	UTSW	6	122,082,752 (GRCm38)	missense	probably damaging	0.99
R4566:Mug2	UTSW	6	122,079,638 (GRCm38)	missense	probably benign	0.00
R4690:Mug2	UTSW	6	122,036,296 (GRCm38)	missense	probably benign
R4732:Mug2	UTSW	6	122,071,872 (GRCm38)	missense	probably damaging	0.99
R4733:Mug2	UTSW	6	122,071,872 (GRCm38)	missense	probably damaging	0.99
R4741:Mug2	UTSW	6	122,079,613 (GRCm38)	missense	probably benign
R4888:Mug2	UTSW	6	122,081,195 (GRCm38)	missense	probably damaging	1.00
R5199:Mug2	UTSW	6	122,040,660 (GRCm38)	missense	probably benign
R5347:Mug2	UTSW	6	122,081,592 (GRCm38)	missense	probably damaging	1.00
R5457:Mug2	UTSW	6	122,049,729 (GRCm38)	nonsense	probably null
R5495:Mug2	UTSW	6	122,079,650 (GRCm38)	missense	probably damaging	0.96
R5509:Mug2	UTSW	6	122,084,381 (GRCm38)	missense	possibly damaging	0.84
R6006:Mug2	UTSW	6	122,083,500 (GRCm38)	missense	probably null	0.98
R6180:Mug2	UTSW	6	122,079,606 (GRCm38)	missense	probably benign	0.01
R6184:Mug2	UTSW	6	122,037,046 (GRCm38)	missense	probably benign
R6199:Mug2	UTSW	6	122,047,439 (GRCm38)	missense	probably benign	0.05
R6262:Mug2	UTSW	6	122,075,255 (GRCm38)	missense	probably damaging	1.00
R6416:Mug2	UTSW	6	122,082,754 (GRCm38)	missense	probably damaging	1.00
R6548:Mug2	UTSW	6	122,047,442 (GRCm38)	missense	probably damaging	1.00
R6703:Mug2	UTSW	6	122,078,694 (GRCm38)	missense	probably benign	0.25
R7106:Mug2	UTSW	6	122,082,721 (GRCm38)	missense	probably damaging	1.00
R7131:Mug2	UTSW	6	122,075,247 (GRCm38)	missense	probably damaging	1.00
R7372:Mug2	UTSW	6	122,083,466 (GRCm38)	missense	possibly damaging	0.88
R7419:Mug2	UTSW	6	122,040,570 (GRCm38)	missense	possibly damaging	0.86
R7423:Mug2	UTSW	6	122,079,726 (GRCm38)	missense	probably benign	0.00
R7581:Mug2	UTSW	6	122,063,711 (GRCm38)	missense	probably damaging	1.00
R7582:Mug2	UTSW	6	122,079,644 (GRCm38)	missense	probably damaging	0.99
R7672:Mug2	UTSW	6	122,040,719 (GRCm38)	missense	probably benign	0.37
R7713:Mug2	UTSW	6	122,078,795 (GRCm38)	missense	possibly damaging	0.83
R7759:Mug2	UTSW	6	122,081,358 (GRCm38)	missense	probably damaging	1.00
R7834:Mug2	UTSW	6	122,036,282 (GRCm38)	missense	probably benign
R7850:Mug2	UTSW	6	122,075,211 (GRCm38)	missense	probably damaging	1.00
R8029:Mug2	UTSW	6	122,081,545 (GRCm38)	critical splice acceptor site	probably null
R8127:Mug2	UTSW	6	122,075,608 (GRCm38)	missense	probably benign	0.01
R8335:Mug2	UTSW	6	122,040,584 (GRCm38)	missense	probably benign
R8348:Mug2	UTSW	6	122,072,233 (GRCm38)	nonsense	probably null
R8557:Mug2	UTSW	6	122,063,701 (GRCm38)	missense	probably damaging	0.99
R8798:Mug2	UTSW	6	122,081,610 (GRCm38)	missense	probably damaging	1.00
R8823:Mug2	UTSW	6	122,063,689 (GRCm38)	missense	possibly damaging	0.89
R9029:Mug2	UTSW	6	122,084,369 (GRCm38)	missense	probably damaging	1.00
R9153:Mug2	UTSW	6	122,040,668 (GRCm38)	missense	possibly damaging	0.71
R9185:Mug2	UTSW	6	122,077,483 (GRCm38)	missense	probably benign	0.06
R9186:Mug2	UTSW	6	122,075,289 (GRCm38)	missense	probably damaging	0.99
R9418:Mug2	UTSW	6	122,040,741 (GRCm38)	missense	probably benign	0.00
R9464:Mug2	UTSW	6	122,051,731 (GRCm38)	missense	probably benign	0.01
R9622:Mug2	UTSW	6	122,051,792 (GRCm38)	missense	probably benign	0.29
Z1177:Mug2	UTSW	6	122,037,121 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGCACACTCTCACATGTG -3'
(R):5'- TTGGGACCCTGAGACTTTTCTG -3'

Sequencing Primer
(F):5'- GTGCAGACTACTTTCAGCAGAGTC -3'
(R):5'- ACCCTGAGACTTTTCTGAAGGTTG -3'

Posted On

2019-09-13