Mutagenetix > Incidental Mutation

Incidental Mutation 'R9646:Muc2'

726735

Institutional Source

Beutler Lab

Gene Symbol

Muc2

Ensembl Gene

ENSMUSG00000025515

Gene Name

mucin 2

Synonyms

2010015E03Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9646 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141276583-141308428 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141276643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 11 (A11V)

Ref Sequence

ENSEMBL: ENSMUSP00000141040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000185406]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000185406
AA Change: A11V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141040
Gene: ENSMUSG00000025515
AA Change: A11V

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
VWD	20	183	1.5e-40	SMART
C8	216	290	3.9e-15	SMART
Pfam:TIL	293	349	5.4e-10	PFAM
VWC	351	411	7e-4	SMART
VWD	378	542	8.8e-44	SMART
C8	579	653	1.2e-36	SMART
SCOP:d1coua_	654	728	4e-8	SMART
VWC_def	820	865	1.3e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,544,926 (GRCm39)	I723N	probably damaging	Het
Agbl1	G	A	7: 76,075,648 (GRCm39)	R682Q	unknown	Het
Ankrd42	A	T	7: 92,273,257 (GRCm39)	D123E	possibly damaging	Het
Anxa4	A	T	6: 86,730,814 (GRCm39)	I121N	probably damaging	Het
Asic1	T	C	15: 99,593,414 (GRCm39)	F257S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cckar	T	C	5: 53,863,608 (GRCm39)	T118A	probably benign	Het
Cfap61	T	A	2: 145,854,152 (GRCm39)	I388N	probably damaging	Het
Chrnd	A	T	1: 87,120,311 (GRCm39)	I156F	probably damaging	Het
Col15a1	T	A	4: 47,257,187 (GRCm39)	L326Q	possibly damaging	Het
Dcpp3	A	T	17: 24,138,156 (GRCm39)	I105L	possibly damaging	Het
Dnaaf5	T	A	5: 139,151,832 (GRCm39)	H494Q	probably benign	Het
Dph5	T	A	3: 115,708,692 (GRCm39)	Y125N	probably damaging	Het
Eif4enif1	T	C	11: 3,170,280 (GRCm39)	V111A	probably damaging	Het
Etl4	T	A	2: 20,802,724 (GRCm39)	I1010K	probably benign	Het
Faf1	T	A	4: 109,652,016 (GRCm39)	W236R	probably damaging	Het
Fat4	A	G	3: 39,035,813 (GRCm39)	D3155G	probably damaging	Het
Fhip2b	T	C	14: 70,827,808 (GRCm39)	H125R	probably damaging	Het
Firrm	A	G	1: 163,822,195 (GRCm39)	V32A	probably damaging	Het
Galnt12	T	C	4: 47,120,390 (GRCm39)	I491T	probably damaging	Het
Gm10553	T	A	1: 85,077,901 (GRCm39)	L6Q	probably damaging	Het
H2-T10	A	T	17: 36,431,157 (GRCm39)	I168N	probably damaging	Het
Hdac9	T	A	12: 34,487,167 (GRCm39)	Q78L	probably damaging	Het
Hmx1	C	T	5: 35,549,400 (GRCm39)	T231M	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Hsd17b13	T	C	5: 104,124,973 (GRCm39)	K70R	probably null	Het
Hykk	C	T	9: 54,853,521 (GRCm39)	T281I	probably benign	Het
Il1r2	A	G	1: 40,162,362 (GRCm39)	D335G	probably damaging	Het
Insig2	A	C	1: 121,240,040 (GRCm39)	L87V	probably damaging	Het
Insrr	A	T	3: 87,721,805 (GRCm39)	Y1193F	probably damaging	Het
Itpr1	A	G	6: 108,371,845 (GRCm39)	Y1173C	probably damaging	Het
Kcnh8	A	G	17: 53,104,573 (GRCm39)	N190S	probably benign	Het
Kntc1	T	C	5: 123,897,119 (GRCm39)	F161L	probably benign	Het
Lilra5	T	C	7: 4,244,907 (GRCm39)	L226P	probably damaging	Het
Nrp2	T	C	1: 62,777,566 (GRCm39)	F124L	probably damaging	Het
Or52e4	T	C	7: 104,706,374 (GRCm39)	I307T	probably benign	Het
Or5m11b	T	A	2: 85,806,446 (GRCm39)	N286K	probably benign	Het
Or5w15	T	A	2: 87,568,512 (GRCm39)	D52V	probably damaging	Het
Or8c19-ps1	T	A	9: 38,220,114 (GRCm39)	S8T	probably damaging	Het
Pcdhb17	A	T	18: 37,618,471 (GRCm39)	N87I	possibly damaging	Het
Pdgfrb	T	A	18: 61,211,721 (GRCm39)		probably null	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pepd	A	T	7: 34,620,882 (GRCm39)	Q49L	possibly damaging	Het
Pigo	C	A	4: 43,017,967 (GRCm39)	R1083L	probably damaging	Het
Pitpnm1	G	A	19: 4,153,269 (GRCm39)	D142N	probably damaging	Het
Plod1	C	T	4: 148,016,112 (GRCm39)	E93K	probably benign	Het
Pramel11	A	T	4: 143,623,634 (GRCm39)	V180E	probably damaging	Het
Rev3l	T	C	10: 39,698,440 (GRCm39)	I979T	probably damaging	Het
Scrib	C	T	15: 75,932,492 (GRCm39)	G743D	probably damaging	Het
Septin3	T	C	15: 82,170,088 (GRCm39)	S205P	probably benign	Het
Sez6	A	G	11: 77,867,632 (GRCm39)	K850E	probably damaging	Het
Sfxn5	T	A	6: 85,266,195 (GRCm39)	T101S	probably damaging	Het
Slc6a5	A	T	7: 49,567,496 (GRCm39)	K317*	probably null	Het
Sox8	A	T	17: 25,786,871 (GRCm39)	D277E	probably benign	Het
Sptbn2	G	T	19: 4,795,341 (GRCm39)	A1600S	probably damaging	Het
Syne1	A	G	10: 5,179,187 (GRCm39)	V4429A	possibly damaging	Het
Tnrc6b	T	A	15: 80,773,266 (GRCm39)	F1137L	possibly damaging	Het
Trim43a	A	G	9: 88,466,392 (GRCm39)	R238G	probably benign	Het
Triobp	T	C	15: 78,887,934 (GRCm39)	L1943P	probably damaging	Het
Vmn1r125	T	C	7: 21,006,261 (GRCm39)	V53A	possibly damaging	Het
Vwa5b1	T	A	4: 138,319,420 (GRCm39)	N412I	probably damaging	Het
Yipf7	T	A	5: 69,678,424 (GRCm39)	T122S	probably benign	Het
Zfp1005	C	T	2: 150,110,104 (GRCm39)	H265Y	probably benign	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
R8192:Muc2	UTSW	7	141,305,215 (GRCm39)	missense
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
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'- CCAAGTTTACCCAGGGAGTC -3'
(R):5'- AGAGCCTTAAGACCAGTCCC -3'

Sequencing Primer
(F):5'- TTCCTCTCTGGGACCCATGGAG -3'
(R):5'- TTAAGACCAGTCCCACTGCAGTG -3'

Posted On

2022-10-06