Mutagenetix > Incidental Mutation

Incidental Mutation 'R5918:Gpa33'

461440

Institutional Source

Beutler Lab

Gene Symbol

Gpa33

Ensembl Gene

ENSMUSG00000000544

Gene Name

glycoprotein A33 transmembrane

Synonyms

2010310L10Rik, 2210401D16Rik, A33 antigen

MMRRC Submission

044115-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5918 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

165957807-165994079 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 165958107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060833] [ENSMUST00000085992] [ENSMUST00000166159] [ENSMUST00000166860] [ENSMUST00000192369]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000027847

Predicted Effect

probably benign
Transcript: ENSMUST00000060833

SMART Domains

Protein: ENSMUSP00000060147
Gene: ENSMUSG00000000544

Domain	Start	End	E-Value	Type
IGv	38	119	1.26e-9	SMART
IGc2	153	218	3.03e-12	SMART
transmembrane domain	235	257	N/A	INTRINSIC
low complexity region	295	306	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000085992

SMART Domains

Protein: ENSMUSP00000083155
Gene: ENSMUSG00000026564

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
DSPc	133	277	2.45e-30	SMART
low complexity region	339	348	N/A	INTRINSIC
low complexity region	404	425	N/A	INTRINSIC
low complexity region	429	439	N/A	INTRINSIC
low complexity region	618	635	N/A	INTRINSIC
low complexity region	655	666	N/A	INTRINSIC
low complexity region	773	788	N/A	INTRINSIC
coiled coil region	813	839	N/A	INTRINSIC
low complexity region	851	860	N/A	INTRINSIC
low complexity region	936	950	N/A	INTRINSIC
low complexity region	1001	1019	N/A	INTRINSIC
low complexity region	1026	1040	N/A	INTRINSIC
low complexity region	1074	1091	N/A	INTRINSIC
low complexity region	1108	1120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166159

Predicted Effect

probably benign
Transcript: ENSMUST00000166860

SMART Domains

Protein: ENSMUSP00000125903
Gene: ENSMUSG00000000544

Domain	Start	End	E-Value	Type
IGv	38	119	1.26e-9	SMART
IGc2	153	218	3.03e-12	SMART
transmembrane domain	235	257	N/A	INTRINSIC
low complexity region	295	306	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000192369

SMART Domains

Protein: ENSMUSP00000141564
Gene: ENSMUSG00000026564

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
DSPc	133	277	2.45e-30	SMART
low complexity region	339	348	N/A	INTRINSIC
low complexity region	404	425	N/A	INTRINSIC
low complexity region	429	439	N/A	INTRINSIC
low complexity region	618	635	N/A	INTRINSIC
low complexity region	655	666	N/A	INTRINSIC
low complexity region	773	788	N/A	INTRINSIC
coiled coil region	813	839	N/A	INTRINSIC
low complexity region	851	860	N/A	INTRINSIC
low complexity region	936	950	N/A	INTRINSIC
low complexity region	1001	1019	N/A	INTRINSIC
low complexity region	1026	1040	N/A	INTRINSIC
low complexity region	1074	1091	N/A	INTRINSIC
low complexity region	1108	1120	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

93% (66/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to induced colitis and impaired oral tolerance to ovalbumin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	T	5: 36,131,869 (GRCm39)	I399F	possibly damaging	Het
Aknad1	C	T	3: 108,659,703 (GRCm39)	P239L	probably benign	Het
Ankrd9	A	G	12: 110,943,200 (GRCm39)	V245A	probably benign	Het
Anxa1	T	C	19: 20,355,857 (GRCm39)		probably benign	Het
Arhgef2	A	G	3: 88,543,387 (GRCm39)	K454R	probably damaging	Het
AU040320	A	G	4: 126,708,064 (GRCm39)	T227A	probably benign	Het
Bbs2	C	T	8: 94,824,931 (GRCm39)	R17H	probably damaging	Het
Bcl2l12	A	G	7: 44,640,888 (GRCm39)		probably benign	Het
C1qtnf9	G	T	14: 61,009,737 (GRCm39)		probably benign	Het
Ccdc38	C	G	10: 93,406,748 (GRCm39)	Y219*	probably null	Het
Ceacam3	G	T	7: 16,893,670 (GRCm39)	D394Y	probably damaging	Het
Crip1	A	C	12: 113,117,287 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,260,803 (GRCm39)	V1987A	probably benign	Het
Dnah9	C	A	11: 65,725,025 (GRCm39)	C4376F	probably damaging	Het
Galnt9	T	C	5: 110,763,332 (GRCm39)	F446L	probably damaging	Het
Garin1a	A	G	6: 29,285,942 (GRCm39)	R76G	probably null	Het
Gm14322	A	G	2: 177,411,499 (GRCm39)	D103G	probably benign	Het
Lactb2	T	A	1: 13,720,954 (GRCm39)	I93F	probably benign	Het
Lifr	A	T	15: 7,188,897 (GRCm39)	T93S	probably benign	Het
Lmbr1l	A	T	15: 98,810,308 (GRCm39)	I101N	probably damaging	Het
Lrrc8c	G	A	5: 105,756,117 (GRCm39)	V631M	possibly damaging	Het
Mctp2	A	C	7: 71,878,288 (GRCm39)	D263E	probably damaging	Het
Nbeal1	T	A	1: 60,307,051 (GRCm39)	I1627N	possibly damaging	Het
Neb	T	C	2: 52,087,906 (GRCm39)	Y5188C	probably damaging	Het
Nf1	T	C	11: 79,460,048 (GRCm39)		probably benign	Het
Nr6a1	T	C	2: 38,629,103 (GRCm39)	D250G	probably damaging	Het
Ola1	T	C	2: 72,987,128 (GRCm39)	E168G	probably benign	Het
Or1a1	T	C	11: 74,086,944 (GRCm39)	V205A	probably damaging	Het
Or2d2b	T	A	7: 106,705,828 (GRCm39)	Q80L	probably damaging	Het
Or4k2	A	G	14: 50,424,425 (GRCm39)	I83T	probably benign	Het
Or7g22	T	C	9: 19,048,684 (GRCm39)	Y132H	probably damaging	Het
Or9i1b	T	A	19: 13,897,139 (GRCm39)	F252I	probably damaging	Het
Pik3r6	C	T	11: 68,416,497 (GRCm39)	Q29*	probably null	Het
Ppargc1a	C	T	5: 51,620,579 (GRCm39)		probably benign	Het
Ppl	C	T	16: 4,922,765 (GRCm39)	R242H	probably benign	Het
Ppp1r37	G	T	7: 19,266,036 (GRCm39)	Q577K	probably benign	Het
Prcd	A	G	11: 116,548,366 (GRCm39)	E25G	probably damaging	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Ptgs1	A	C	2: 36,141,089 (GRCm39)	E512A	probably damaging	Het
Radil	T	G	5: 142,473,357 (GRCm39)	I535L	probably benign	Het
Rbl2	G	T	8: 91,816,758 (GRCm39)	V373F	probably benign	Het
Ryr1	T	C	7: 28,708,577 (GRCm39)	Y4802C	probably benign	Het
Sdc2	A	G	15: 33,028,313 (GRCm39)	T144A	probably benign	Het
Senp6	T	C	9: 80,021,398 (GRCm39)		probably null	Het
Sipa1l3	T	C	7: 29,096,631 (GRCm39)	D531G	probably damaging	Het
Slc22a27	C	A	19: 7,887,411 (GRCm39)	C189F	possibly damaging	Het
Srcin1	T	C	11: 97,424,323 (GRCm39)		probably null	Het
Svep1	C	T	4: 58,069,345 (GRCm39)	E2814K	possibly damaging	Het
Tjp3	T	G	10: 81,113,746 (GRCm39)	H504P	probably benign	Het
Tmprss4	T	A	9: 45,086,414 (GRCm39)	K378*	probably null	Het
Tns4	C	T	11: 98,964,497 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,580,298 (GRCm39)	T15205A	possibly damaging	Het
Ush2a	G	T	1: 188,089,011 (GRCm39)	G322V	probably benign	Het
Vac14	A	T	8: 111,363,104 (GRCm39)		probably null	Het
Vmn1r175	T	G	7: 23,508,372 (GRCm39)	D85A	probably damaging	Het
Vmn2r93	T	C	17: 18,546,030 (GRCm39)	L634P	probably damaging	Het
Zeb2	A	T	2: 45,001,271 (GRCm39)		probably benign	Het
Zfp616	T	A	11: 73,974,086 (GRCm39)	H118Q	possibly damaging	Het
Zfp945	T	A	17: 23,069,955 (GRCm39)	H648L	probably damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	Het

Other mutations in Gpa33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01894:Gpa33	APN	1	165,992,785 (GRCm39)	missense	probably benign	0.11
IGL03051:Gpa33	APN	1	165,992,790 (GRCm39)	missense	probably benign
IGL03132:Gpa33	APN	1	165,980,218 (GRCm39)	missense	probably benign	0.00
R0433:Gpa33	UTSW	1	165,991,330 (GRCm39)	splice site	probably benign
R0892:Gpa33	UTSW	1	165,985,211 (GRCm39)	missense	probably damaging	0.98
R1854:Gpa33	UTSW	1	165,992,759 (GRCm39)	missense	probably benign	0.00
R4233:Gpa33	UTSW	1	165,974,340 (GRCm39)	missense	probably damaging	1.00
R4354:Gpa33	UTSW	1	165,991,404 (GRCm39)	missense	possibly damaging	0.95
R5652:Gpa33	UTSW	1	165,992,714 (GRCm39)	critical splice acceptor site	probably null
R5667:Gpa33	UTSW	1	165,974,360 (GRCm39)	missense	possibly damaging	0.63
R5671:Gpa33	UTSW	1	165,974,360 (GRCm39)	missense	possibly damaging	0.63
R5884:Gpa33	UTSW	1	165,980,329 (GRCm39)	missense	probably damaging	0.98
R7402:Gpa33	UTSW	1	165,980,263 (GRCm39)	missense	probably damaging	0.99
R8485:Gpa33	UTSW	1	165,992,261 (GRCm39)	missense	probably benign
R8906:Gpa33	UTSW	1	165,974,216 (GRCm39)	missense	probably benign	0.01
R8924:Gpa33	UTSW	1	165,980,351 (GRCm39)	missense	probably damaging	1.00
R9016:Gpa33	UTSW	1	165,992,730 (GRCm39)	missense	probably damaging	1.00
R9248:Gpa33	UTSW	1	165,991,396 (GRCm39)	missense	probably damaging	1.00
R9255:Gpa33	UTSW	1	165,980,186 (GRCm39)	missense	probably benign	0.00
R9288:Gpa33	UTSW	1	165,980,304 (GRCm39)	missense	probably benign	0.31
Z1176:Gpa33	UTSW	1	165,992,240 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTTCATAGAGTAGGTGGAGCAGG -3'
(R):5'- TATAGCTCTGCTCAGTGGGAC -3'

Sequencing Primer
(F):5'- TGGAGCAGGGGCCTCAC -3'
(R):5'- TCAGTGGGACAGAGCACTGC -3'

Posted On

2017-02-28