Mutagenetix > Incidental Mutation

Incidental Mutation 'R8192:Muc2'

635222

Institutional Source

Beutler Lab

Gene Symbol

Muc2

Ensembl Gene

ENSMUSG00000025515

Gene Name

mucin 2

Synonyms

2010015E03Rik

MMRRC Submission

067615-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R8192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141276583-141308428 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141305215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 612 (V612D)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026590]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000026590
AA Change: V173D

SMART Domains

Protein: ENSMUSP00000026590
Gene: ENSMUSG00000025515
AA Change: V173D

Domain	Start	End	E-Value	Type
C8	1	63	1.65e-11	SMART
VWC	120	188	5.48e-2	SMART
VWC	229	293	2.38e-11	SMART
Blast:VWD	299	363	4e-17	BLAST
CT	380	463	3.6e-35	SMART

Predicted Effect

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygotes for a point mutation have soft feces at weaning and develop diarrhea associated with malapsorption syndrome. Homozygous null mutants pass blood in their feces at 6 months, and 65% of null mutants have intestinal tumors at 1 year. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted(3) Chemically induced(4)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	T	8: 44,103,970 (GRCm39)	D558E	probably damaging	Het
Alox15	T	A	11: 70,241,736 (GRCm39)	E48D	probably benign	Het
Alyref	T	C	11: 120,488,522 (GRCm39)	E102G	probably benign	Het
Bach2	A	G	4: 32,562,294 (GRCm39)	S254G	probably benign	Het
Bcl2l13	A	G	6: 120,853,267 (GRCm39)	E184G	possibly damaging	Het
Best1	T	A	19: 9,963,664 (GRCm39)	I506F	possibly damaging	Het
Cd177	T	A	7: 24,453,727 (GRCm39)	D388V	probably benign	Het
Cep350	T	C	1: 155,816,529 (GRCm39)	K329E	possibly damaging	Het
Clasrp	T	C	7: 19,329,387 (GRCm39)	N65S	possibly damaging	Het
Cobl	T	C	11: 12,199,745 (GRCm39)	R1301G	probably benign	Het
Cul9	T	C	17: 46,849,273 (GRCm39)	E624G	probably benign	Het
Cyp21a1	A	T	17: 35,022,633 (GRCm39)	Y109N	probably damaging	Het
Dbf4	A	G	5: 8,448,134 (GRCm39)	S359P	probably benign	Het
Ddx60	A	G	8: 62,431,002 (GRCm39)	T846A	probably damaging	Het
Dnah11	A	G	12: 117,976,181 (GRCm39)	V2746A	probably benign	Het
Dnah12	G	A	14: 26,428,036 (GRCm39)	A221T	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dock2	A	G	11: 34,623,166 (GRCm39)		probably null	Het
Dpy19l1	T	C	9: 24,362,023 (GRCm39)	I119V	possibly damaging	Het
Dsg1c	A	G	18: 20,399,255 (GRCm39)	T120A	probably damaging	Het
Dzank1	T	C	2: 144,332,145 (GRCm39)	H397R	probably benign	Het
Gaa	G	T	11: 119,161,235 (GRCm39)	A93S	possibly damaging	Het
Galnt4	G	A	10: 98,945,118 (GRCm39)	R281H	probably benign	Het
Gm3250	T	C	10: 77,618,291 (GRCm39)	E29G	unknown	Het
H13	T	G	2: 152,511,522 (GRCm39)	D7E	probably benign	Het
H60c	T	A	10: 3,209,781 (GRCm39)	I140F	probably benign	Het
Hsd3b2	T	C	3: 98,620,908 (GRCm39)	N49S	probably benign	Het
Klhl11	G	T	11: 100,354,922 (GRCm39)	P300T	probably benign	Het
Knop1	C	A	7: 118,452,369 (GRCm39)	V117L		Het
Lgalsl2	T	A	7: 5,362,595 (GRCm39)	D75E	possibly damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Lrrc9	A	T	12: 72,496,163 (GRCm39)	I13F	probably damaging	Het
Macf1	A	G	4: 123,334,390 (GRCm39)	S4456P	probably damaging	Het
Mkrn1	A	T	6: 39,376,289 (GRCm39)	V439D	probably damaging	Het
Nrxn3	A	G	12: 90,171,569 (GRCm39)	N967D	probably benign	Het
Oprm1	C	T	10: 6,788,417 (GRCm39)	P391S	probably benign	Het
Or10g7	T	A	9: 39,905,467 (GRCm39)	D120E	probably damaging	Het
Or5d43	A	C	2: 88,105,288 (GRCm39)	V35G	probably damaging	Het
Parp14	T	A	16: 35,691,584 (GRCm39)	E47V	probably benign	Het
Pikfyve	A	G	1: 65,285,554 (GRCm39)	E931G	possibly damaging	Het
Plcz1	A	T	6: 139,968,986 (GRCm39)	C151S	probably damaging	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Pramel27	G	A	4: 143,578,109 (GRCm39)	W123*	probably null	Het
Rbm26	A	G	14: 105,380,125 (GRCm39)		probably null	Het
Rffl	G	T	11: 82,703,549 (GRCm39)		probably null	Het
Sc5d	T	C	9: 42,171,094 (GRCm39)	I32V	probably benign	Het
Scube1	A	G	15: 83,513,583 (GRCm39)		probably null	Het
Shld2	A	T	14: 33,967,173 (GRCm39)	S680T	probably benign	Het
Slc12a6	A	G	2: 112,181,722 (GRCm39)	Y714C	probably damaging	Het
Slc26a3	A	G	12: 31,518,541 (GRCm39)	I670V	probably benign	Het
Slc8a3	A	T	12: 81,246,455 (GRCm39)	V866D	probably damaging	Het
Slco3a1	A	T	7: 73,970,338 (GRCm39)	M423K	probably benign	Het
Smc6	A	G	12: 11,349,336 (GRCm39)	E773G	probably benign	Het
Son	A	G	16: 91,452,437 (GRCm39)	T395A	possibly damaging	Het
Ss18l1	T	C	2: 179,701,155 (GRCm39)	S290P	probably damaging	Het
Tcof1	A	C	18: 60,976,375 (GRCm39)	V78G	probably damaging	Het
Thsd1	G	A	8: 22,733,918 (GRCm39)	V322M	probably benign	Het
Tln2	A	T	9: 67,253,811 (GRCm39)	C753*	probably null	Het
Trav6n-6	T	A	14: 53,370,497 (GRCm39)	F83I	probably damaging	Het
Ttc39d	A	G	17: 80,524,007 (GRCm39)	H222R	probably damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Upf1	A	G	8: 70,793,294 (GRCm39)	L288P	probably benign	Het
Zfp442	T	C	2: 150,250,629 (GRCm39)	I424M	unknown	Het
Zfp580	T	C	7: 5,056,114 (GRCm39)	V100A	probably benign	Het
Zfpm1	C	A	8: 123,058,833 (GRCm39)	P151Q	probably damaging	Het
Zfr2	C	T	10: 81,078,649 (GRCm39)	P294S	possibly damaging	Het

Other mutations in Muc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Eeyore	APN	7	141,693,356 (GRCm38)	missense	probably benign	0.35
kenny	APN	7	0 ()	nonsense
Winnie	APN	7	141,286,029 (GRCm39)	missense	probably damaging	1.00
IGL01303:Muc2	APN	7	141,306,132 (GRCm39)	missense	probably benign
IGL01482:Muc2	APN	7	141,307,797 (GRCm39)	missense	probably damaging	0.96
IGL01875:Muc2	APN	7	141,306,477 (GRCm39)	missense	probably damaging	0.99
IGL02088:Muc2	APN	7	141,305,241 (GRCm39)	missense	probably damaging	1.00
IGL02415:Muc2	APN	7	141,305,609 (GRCm39)	nonsense	probably null
IGL02548:Muc2	APN	7	141,305,594 (GRCm39)	missense	probably damaging	1.00
IGL02836:Muc2	APN	7	141,300,450 (GRCm39)	unclassified	probably benign
IGL03196:Muc2	APN	7	141,301,367 (GRCm39)	missense	probably damaging	0.97
Muskatenwein	UTSW	7	141,307,176 (GRCm39)	missense	unknown
nomoco	UTSW	7	141,307,456 (GRCm39)	missense	probably damaging	1.00
Schlendrian	UTSW	7	141,281,925 (GRCm39)	missense	probably damaging	1.00
Seco	UTSW	7	141,284,976 (GRCm39)	missense	probably damaging	1.00
BB001:Muc2	UTSW	7	141,281,631 (GRCm39)	missense	probably damaging	1.00
BB011:Muc2	UTSW	7	141,281,631 (GRCm39)	missense	probably damaging	1.00
E0370:Muc2	UTSW	7	141,282,598 (GRCm39)	missense	probably damaging	1.00
R0127:Muc2	UTSW	7	141,302,691 (GRCm39)	missense	probably benign	0.00
R0179:Muc2	UTSW	7	141,302,708 (GRCm39)	missense	probably damaging	1.00
R0201:Muc2	UTSW	7	141,699,185 (GRCm38)	frame shift	probably null
R0299:Muc2	UTSW	7	141,306,466 (GRCm39)	missense	probably damaging	1.00
R0547:Muc2	UTSW	7	141,699,185 (GRCm38)	frame shift	probably null
R0699:Muc2	UTSW	7	141,306,037 (GRCm39)	missense	probably damaging	1.00
R0900:Muc2	UTSW	7	141,699,185 (GRCm38)	frame shift	probably null
R1348:Muc2	UTSW	7	141,699,185 (GRCm38)	frame shift	probably null
R1466:Muc2	UTSW	7	141,302,711 (GRCm39)	missense	probably damaging	1.00
R1466:Muc2	UTSW	7	141,302,711 (GRCm39)	missense	probably damaging	1.00
R1625:Muc2	UTSW	7	141,283,405 (GRCm39)	missense	probably damaging	1.00
R2010:Muc2	UTSW	7	141,287,444 (GRCm39)	missense	probably damaging	0.99
R2149:Muc2	UTSW	7	141,699,185 (GRCm38)	frame shift	probably null
R2163:Muc2	UTSW	7	141,699,185 (GRCm38)	frame shift	probably null
R3008:Muc2	UTSW	7	141,281,347 (GRCm39)	missense	possibly damaging	0.93
R3110:Muc2	UTSW	7	141,299,225 (GRCm39)	unclassified	probably benign
R3112:Muc2	UTSW	7	141,299,225 (GRCm39)	unclassified	probably benign
R3424:Muc2	UTSW	7	141,279,595 (GRCm39)	missense	probably damaging	0.99
R3786:Muc2	UTSW	7	141,283,590 (GRCm39)	missense	probably benign	0.01
R3854:Muc2	UTSW	7	141,308,081 (GRCm39)	missense	probably damaging	1.00
R3964:Muc2	UTSW	7	141,286,233 (GRCm39)	missense	probably benign	0.17
R3965:Muc2	UTSW	7	141,286,233 (GRCm39)	missense	probably benign	0.17
R3966:Muc2	UTSW	7	141,286,233 (GRCm39)	missense	probably benign	0.17
R3973:Muc2	UTSW	7	141,300,541 (GRCm39)	unclassified	probably benign
R3974:Muc2	UTSW	7	141,300,541 (GRCm39)	unclassified	probably benign
R3976:Muc2	UTSW	7	141,300,541 (GRCm39)	unclassified	probably benign
R4327:Muc2	UTSW	7	141,281,577 (GRCm39)	missense	probably damaging	0.96
R4694:Muc2	UTSW	7	141,306,082 (GRCm39)	missense	probably damaging	1.00
R4764:Muc2	UTSW	7	141,299,345 (GRCm39)	missense	possibly damaging	0.88
R4769:Muc2	UTSW	7	141,286,260 (GRCm39)	critical splice donor site	probably null
R4798:Muc2	UTSW	7	141,307,877 (GRCm39)	missense	probably benign	0.01
R4900:Muc2	UTSW	7	141,303,280 (GRCm39)	missense	probably benign	0.32
R5383:Muc2	UTSW	7	141,307,456 (GRCm39)	missense	probably damaging	1.00
R5489:Muc2	UTSW	7	141,305,169 (GRCm39)	missense	probably benign	0.00
R5615:Muc2	UTSW	7	141,277,446 (GRCm39)	missense	probably damaging	1.00
R5856:Muc2	UTSW	7	141,299,381 (GRCm39)	unclassified	probably benign
R5919:Muc2	UTSW	7	141,281,171 (GRCm39)	missense	probably damaging	0.97
R5953:Muc2	UTSW	7	141,287,951 (GRCm39)	missense	probably damaging	0.96
R5979:Muc2	UTSW	7	141,305,143 (GRCm39)	missense	probably damaging	0.99
R5979:Muc2	UTSW	7	141,283,493 (GRCm39)	splice site	probably null
R6175:Muc2	UTSW	7	141,282,875 (GRCm39)	missense	probably damaging	1.00
R6213:Muc2	UTSW	7	141,305,151 (GRCm39)	missense	probably damaging	1.00
R6281:Muc2	UTSW	7	141,306,140 (GRCm39)	missense	probably damaging	1.00
R6321:Muc2	UTSW	7	141,287,397 (GRCm39)	missense	probably benign	0.28
R6390:Muc2	UTSW	7	141,305,883 (GRCm39)	missense	probably damaging	0.97
R6485:Muc2	UTSW	7	141,300,473 (GRCm39)	unclassified	probably benign
R6582:Muc2	UTSW	7	141,282,941 (GRCm39)	missense	probably benign	0.00
R6683:Muc2	UTSW	7	141,305,214 (GRCm39)	missense	probably benign	0.38
R6896:Muc2	UTSW	7	141,306,432 (GRCm39)	missense	possibly damaging	0.48
R6906:Muc2	UTSW	7	141,284,976 (GRCm39)	missense	probably damaging	1.00
R6924:Muc2	UTSW	7	141,284,077 (GRCm39)	missense	possibly damaging	0.87
R7040:Muc2	UTSW	7	141,305,194 (GRCm39)	missense	unknown
R7222:Muc2	UTSW	7	141,290,758 (GRCm39)	missense
R7251:Muc2	UTSW	7	141,278,965 (GRCm39)	missense	possibly damaging	0.91
R7282:Muc2	UTSW	7	141,306,481 (GRCm39)	missense
R7315:Muc2	UTSW	7	141,276,645 (GRCm39)	missense	probably damaging	0.99
R7421:Muc2	UTSW	7	141,301,863 (GRCm39)	missense
R7556:Muc2	UTSW	7	141,307,439 (GRCm39)	missense
R7651:Muc2	UTSW	7	141,290,750 (GRCm39)	missense
R7710:Muc2	UTSW	7	141,287,452 (GRCm39)	missense	possibly damaging	0.92
R7776:Muc2	UTSW	7	141,290,942 (GRCm39)	missense
R7813:Muc2	UTSW	7	141,282,543 (GRCm39)	splice site	probably null
R7843:Muc2	UTSW	7	141,281,662 (GRCm39)	missense	probably benign	0.03
R7869:Muc2	UTSW	7	141,303,471 (GRCm39)	missense
R7924:Muc2	UTSW	7	141,281,631 (GRCm39)	missense	probably damaging	1.00
R7993:Muc2	UTSW	7	141,308,173 (GRCm39)	missense
R8053:Muc2	UTSW	7	141,284,575 (GRCm39)	missense	probably benign	0.01
R8068:Muc2	UTSW	7	141,298,422 (GRCm39)	missense
R8099:Muc2	UTSW	7	141,299,175 (GRCm39)	splice site	probably null
R8194:Muc2	UTSW	7	141,290,801 (GRCm39)	missense
R8545:Muc2	UTSW	7	141,306,130 (GRCm39)	missense	unknown
R8701:Muc2	UTSW	7	141,281,850 (GRCm39)	missense	probably damaging	1.00
R8883:Muc2	UTSW	7	141,287,469 (GRCm39)	missense	probably damaging	0.98
R8894:Muc2	UTSW	7	141,280,758 (GRCm39)	missense	probably damaging	1.00
R8905:Muc2	UTSW	7	141,279,643 (GRCm39)	missense	probably benign	0.00
R9024:Muc2	UTSW	7	141,287,936 (GRCm39)	missense	probably damaging	0.98
R9032:Muc2	UTSW	7	141,287,058 (GRCm39)	missense	probably damaging	1.00
R9085:Muc2	UTSW	7	141,287,058 (GRCm39)	missense	probably damaging	1.00
R9091:Muc2	UTSW	7	141,290,816 (GRCm39)	missense
R9104:Muc2	UTSW	7	141,286,224 (GRCm39)	missense	probably damaging	1.00
R9114:Muc2	UTSW	7	141,287,983 (GRCm39)	nonsense	probably null
R9270:Muc2	UTSW	7	141,290,816 (GRCm39)	missense
R9297:Muc2	UTSW	7	141,302,759 (GRCm39)	missense
R9325:Muc2	UTSW	7	141,298,559 (GRCm39)	missense
R9354:Muc2	UTSW	7	141,307,157 (GRCm39)	missense
R9386:Muc2	UTSW	7	141,279,389 (GRCm39)	missense	probably damaging	1.00
R9529:Muc2	UTSW	7	141,287,453 (GRCm39)	missense	possibly damaging	0.55
R9550:Muc2	UTSW	7	141,308,242 (GRCm39)	missense	probably damaging	1.00
R9583:Muc2	UTSW	7	141,300,559 (GRCm39)	missense
R9607:Muc2	UTSW	7	141,305,190 (GRCm39)	missense
R9646:Muc2	UTSW	7	141,276,643 (GRCm39)	missense	probably benign
R9651:Muc2	UTSW	7	141,288,014 (GRCm39)	missense	probably damaging	0.99
R9774:Muc2	UTSW	7	141,285,811 (GRCm39)	missense	probably benign
R9784:Muc2	UTSW	7	141,280,785 (GRCm39)	nonsense	probably null
Z1176:Muc2	UTSW	7	141,300,451 (GRCm39)	missense
Z1177:Muc2	UTSW	7	141,298,531 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CCATATGGATAGCCTGGTGC -3'
(R):5'- AACAGGGACTCTTGGTCTGATC -3'

Sequencing Primer
(F):5'- CCATATGGATAGCCTGGTGCTTATC -3'
(R):5'- GACTCTTGGTCTGATCCAGCAG -3'

Posted On

2020-07-13