Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Mug2'

552648

Institutional Source

Beutler Lab

Gene Symbol

Mug2

Ensembl Gene

ENSMUSG00000030131

Gene Name

murinoglobulin 2

Synonyms

MMRRC Submission

045216-MU

Accession Numbers

Essential gene?

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

Stock #

R7131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122006761-122085965 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122075247 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 988 (V988A)

Ref Sequence

ENSEMBL: ENSMUSP00000080469 (fasta)

Gene Model

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

AlphaFold

P28666

Predicted Effect

probably damaging
Transcript: ENSMUST00000081777
AA Change: V988A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: V988A

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,670,067 (GRCm38)	V365A	probably damaging	Het
Abca13	A	G	11: 9,291,893 (GRCm38)	N1252S	probably benign	Het
Abcc3	A	T	11: 94,365,031 (GRCm38)	F543I	probably damaging	Het
Adam15	T	A	3: 89,346,980 (GRCm38)	Q170L	possibly damaging	Het
Aldoc	A	G	11: 78,324,456 (GRCm38)	I19V	possibly damaging	Het
Aoc1l1	T	A	6: 48,976,372 (GRCm38)	Y410*	probably null	Het
Atrip	T	C	9: 109,060,420 (GRCm38)	I711M	probably benign	Het
Brwd1	A	C	16: 96,066,498 (GRCm38)	L149R	probably damaging	Het
Capn9	A	T	8: 124,576,278 (GRCm38)	D45V	probably damaging	Het
Card9	G	A	2: 26,358,835 (GRCm38)	R101C	probably damaging	Het
Ccdc87	A	G	19: 4,841,757 (GRCm38)	E759G	probably damaging	Het
Ccn1	T	C	3: 145,648,781 (GRCm38)	D125G	probably damaging	Het
Cep250	T	C	2: 155,965,077 (GRCm38)	M193T	probably damaging	Het
Cfap54	T	C	10: 92,821,104 (GRCm38)	K3029E	probably benign	Het
Chrna9	G	A	5: 65,977,141 (GRCm38)	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,940,775 (GRCm38)	S367L	probably benign	Het
Col5a1	A	G	2: 27,929,486 (GRCm38)	D200G	unknown	Het
Crhr2	T	C	6: 55,092,127 (GRCm38)	N388D		Het
Cyp2b23	A	G	7: 26,681,413 (GRCm38)	L129P	probably benign	Het
Dctd	A	G	8: 48,112,040 (GRCm38)	S67G	probably benign	Het
Dhtkd1	C	G	2: 5,904,070 (GRCm38)	V738L	probably benign	Het
Dnah17	C	T	11: 118,079,658 (GRCm38)	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,681,772 (GRCm38)	A2819S	probably benign	Het
Dnai7	A	T	6: 145,177,406 (GRCm38)	L578Q	probably null	Het
Dot1l	A	G	10: 80,792,341 (GRCm38)	H1071R	unknown	Het
Dync2h1	T	A	9: 7,075,786 (GRCm38)	D3027V	probably damaging	Het
Efl1	A	G	7: 82,658,064 (GRCm38)	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,784,100 (GRCm38)	R29W	probably null	Het
Evc2	A	G	5: 37,410,258 (GRCm38)	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,644,383 (GRCm38)		probably benign	Het
Fibp	T	A	19: 5,461,491 (GRCm38)	I129N	probably damaging	Het
Folh1	G	T	7: 86,726,112 (GRCm38)	H555Q	probably damaging	Het
Gcnt4	A	T	13: 96,946,519 (GRCm38)	T108S	probably damaging	Het
H1f7	T	A	15: 98,256,369 (GRCm38)	K300*	probably null	Het
Hecw2	A	T	1: 53,865,121 (GRCm38)	V1156E	probably damaging	Het
Herc3	C	G	6: 58,887,424 (GRCm38)	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,939,780 (GRCm38)	C20*	probably null	Het
Iho1	A	T	9: 108,417,420 (GRCm38)	D98E	probably benign	Het
Iqca1l	A	G	5: 24,548,956 (GRCm38)	V435A	possibly damaging	Het
Ivd	C	A	2: 118,869,774 (GRCm38)	T94K	probably damaging	Het
Kank2	C	T	9: 21,794,679 (GRCm38)	A348T	probably benign	Het
Kcnma1	T	C	14: 23,367,494 (GRCm38)	Y889C	probably damaging	Het
Kif13b	T	C	14: 64,773,068 (GRCm38)	V1272A	probably damaging	Het
Kmt2d	GCTGCTGCT	GCTGCTGCTCCTGCTGCT	15: 98,849,616 (GRCm38)		probably benign	Het
Kmt5b	T	A	19: 3,815,412 (GRCm38)	D825E	probably benign	Het
Krt39	C	T	11: 99,520,871 (GRCm38)	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,785,457 (GRCm38)	T68I	unknown	Het
Lmbr1l	A	T	15: 98,906,323 (GRCm38)	V365E	probably benign	Het
Lonp1	C	T	17: 56,617,814 (GRCm38)	R531Q	probably damaging	Het
Mecom	T	A	3: 29,980,945 (GRCm38)	H194L	probably damaging	Het
Mlx	C	T	11: 101,089,242 (GRCm38)	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,375,015 (GRCm38)	S77P	probably damaging	Het
Mst1	A	G	9: 108,084,931 (GRCm38)	E716G	probably null	Het
Mttp	C	T	3: 138,116,132 (GRCm38)	V210I	probably benign	Het
Ndufb6	A	G	4: 40,279,336 (GRCm38)	M1T	probably null	Het
Neurog1	A	T	13: 56,251,750 (GRCm38)	N61K	probably benign	Het
Nlrp14	A	G	7: 107,184,814 (GRCm38)	D581G	possibly damaging	Het
Nlrp4a	C	A	7: 26,449,833 (GRCm38)	N288K	probably benign	Het
Notch3	T	A	17: 32,144,217 (GRCm38)	H1264L	probably benign	Het
Or1e25	A	T	11: 73,602,736 (GRCm38)	D52V	possibly damaging	Het
Or1e34	A	T	11: 73,887,954 (GRCm38)	C139*	probably null	Het
Or3a1c	A	G	11: 74,155,780 (GRCm38)	M209V	probably benign	Het
Patl2	A	T	2: 122,121,782 (GRCm38)		probably null	Het
Pfkfb4	A	G	9: 109,007,302 (GRCm38)	T133A	probably benign	Het
Pla2g4f	T	C	2: 120,304,554 (GRCm38)	E471G	probably null	Het
Postn	T	C	3: 54,362,635 (GRCm38)	V45A	probably damaging	Het
Ppan	T	A	9: 20,891,154 (GRCm38)	V257E	possibly damaging	Het
Ptcra	C	G	17: 46,763,596 (GRCm38)	A7P	probably damaging	Het
Ptprd	C	T	4: 76,066,340 (GRCm38)	R523H	probably damaging	Het
Pycr3	A	T	15: 75,918,695 (GRCm38)	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,095,079 (GRCm38)	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,768,628 (GRCm38)	K668*	probably null	Het
Ryr2	A	T	13: 11,640,327 (GRCm38)	D3661E	possibly damaging	Het
Ryr2	A	G	13: 11,668,811 (GRCm38)		probably null	Het
Sec23ip	T	A	7: 128,779,640 (GRCm38)	S974T	probably damaging	Het
Semp2l2a	A	T	8: 13,836,982 (GRCm38)	W370R	probably damaging	Het
Setbp1	A	G	18: 79,086,960 (GRCm38)	F19S	probably benign	Het
Setd1a	AAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAG	7: 127,796,418 (GRCm38)		probably benign	Het
Sh3pxd2b	A	G	11: 32,422,072 (GRCm38)	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,449,803 (GRCm38)	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,002,202 (GRCm38)	Y418C	probably damaging	Het
Snx19	T	G	9: 30,427,893 (GRCm38)	I109S	probably damaging	Het
Spart	T	C	3: 55,121,799 (GRCm38)		probably null	Het
Sptbn2	A	T	19: 4,749,460 (GRCm38)	Q2097L	probably null	Het
Syne1	T	C	10: 5,228,221 (GRCm38)	K4751R	probably damaging	Het
Tigit	C	A	16: 43,662,252 (GRCm38)	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,297,972 (GRCm38)	I264K	probably damaging	Het
Tom1	T	A	8: 75,057,249 (GRCm38)	I287N	possibly damaging	Het
Top2a	G	A	11: 99,004,182 (GRCm38)	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,571,066 (GRCm38)	V290E	probably damaging	Het
Try4	T	C	6: 41,304,403 (GRCm38)	I93T	probably benign	Het
Usp24	T	A	4: 106,382,303 (GRCm38)	H1147Q	possibly damaging	Het
Uspl1	A	T	5: 149,193,935 (GRCm38)	R109S	probably benign	Het
Vav3	T	A	3: 109,664,346 (GRCm38)	F755I	probably damaging	Het
Vezt	A	T	10: 93,970,547 (GRCm38)	Y667*	probably null	Het
Vmn1r231	T	A	17: 20,889,878 (GRCm38)	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,395,528 (GRCm38)	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380 (GRCm38)	T449A	probably benign	Het
Zfp956	C	A	6: 47,955,847 (GRCm38)	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,525,273 (GRCm38)	W152R	probably damaging	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
R7372:Mug2	UTSW	6	122,083,466 (GRCm38)	missense	possibly damaging	0.88
R7379:Mug2	UTSW	6	122,047,487 (GRCm38)	missense	possibly damaging	0.83
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'- CCATCACTGAAAAGGCATTCATTC -3'
(R):5'- AAAACAGTGCTCTGCTCTCC -3'

Sequencing Primer
(F):5'- CCCTGTACTGGGGCATAAAAAGTTTG -3'
(R):5'- CCCTCCAATGCTACCCCATTTCTAG -3'

Posted On

2019-05-15