Mutagenetix > Incidental Mutation

Incidental Mutation 'R0850:Gypa'

82518

Institutional Source

Beutler Lab

Gene Symbol

Gypa

Ensembl Gene

ENSMUSG00000051839

Gene Name

glycophorin A

Synonyms

GPA, CD235a

MMRRC Submission

039029-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0850 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81220674-81237414 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81222974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 26 (H26R)

Ref Sequence

ENSEMBL: ENSMUSP00000070836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063359]

AlphaFold

P14220

Predicted Effect

unknown
Transcript: ENSMUST00000063359
AA Change: H26R

SMART Domains

Protein: ENSMUSP00000070836
Gene: ENSMUSG00000051839
AA Change: H26R

Domain	Start	End	E-Value	Type
Pfam:Glycophorin_A	43	162	2.5e-53	PFAM

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile; however, mutant erythrocytes had a reduced percentage of O-linked glycoproteins in the membranes, and were sensitive to hypoosmotic stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Aadacl2fm2	T	G	3: 59,659,669 (GRCm39)	I374R	possibly damaging	Het
Agbl3	T	A	6: 34,776,139 (GRCm39)	F210Y	probably damaging	Het
Dgkq	A	G	5: 108,802,444 (GRCm39)	V418A	possibly damaging	Het
Dmp1	A	T	5: 104,360,653 (GRCm39)	D443V	possibly damaging	Het
Elapor2	T	A	5: 9,467,993 (GRCm39)	N220K	probably damaging	Het
Elavl3	T	G	9: 21,948,059 (GRCm39)	D35A	probably damaging	Het
Fbxo44	C	G	4: 148,240,726 (GRCm39)	R220S	probably damaging	Het
Fbxw25	T	C	9: 109,478,685 (GRCm39)	K425R	probably benign	Het
H2-DMb1	T	C	17: 34,374,536 (GRCm39)	V62A	probably benign	Het
Helb	T	C	10: 119,941,272 (GRCm39)	H472R	probably damaging	Het
Herc1	T	G	9: 66,373,952 (GRCm39)	V3197G	probably damaging	Het
Herc2	C	A	7: 55,854,231 (GRCm39)	N3712K	probably benign	Het
Herc6	T	C	6: 57,560,227 (GRCm39)	V89A	possibly damaging	Het
Hspa1l	A	G	17: 35,196,599 (GRCm39)	T213A	probably benign	Het
Kcna7	T	C	7: 45,058,855 (GRCm39)	S381P	probably damaging	Het
Kif19a	C	A	11: 114,671,613 (GRCm39)	P164Q	probably damaging	Het
Macf1	A	G	4: 123,368,195 (GRCm39)	S2189P	probably benign	Het
Mpo	A	G	11: 87,688,328 (GRCm39)	N329S	probably damaging	Het
Mrps15	A	G	4: 125,942,479 (GRCm39)	Y76C	probably damaging	Het
Or51a42	T	A	7: 103,708,252 (GRCm39)	M186L	probably benign	Het
Or6c75	T	C	10: 129,337,593 (GRCm39)	V280A	probably damaging	Het
Prdm2	T	C	4: 142,858,773 (GRCm39)	R1506G	possibly damaging	Het
Ptprb	A	T	10: 116,138,030 (GRCm39)	Q311H	possibly damaging	Het
Ptprb	T	C	10: 116,175,415 (GRCm39)	Y1137H	probably damaging	Het
Scaf8	A	G	17: 3,246,049 (GRCm39)		probably null	Het
Slc25a1	A	T	16: 17,745,145 (GRCm39)	F105Y	probably benign	Het
Slc29a4	T	C	5: 142,704,327 (GRCm39)	V327A	probably benign	Het
Spmip3	A	G	1: 177,568,571 (GRCm39)	T23A	probably benign	Het
Tmed10	A	G	12: 85,390,279 (GRCm39)	F195L	probably benign	Het
Tmem45a2	T	A	16: 56,865,732 (GRCm39)	I151F	probably benign	Het
Vmn2r93	C	A	17: 18,525,279 (GRCm39)	F312L	possibly damaging	Het
Zfp326	A	G	5: 106,026,663 (GRCm39)		probably null	Het

Other mutations in Gypa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Gypa	APN	8	81,231,408 (GRCm39)	splice site	probably benign
IGL02283:Gypa	APN	8	81,220,721 (GRCm39)	splice site	probably benign
R0067:Gypa	UTSW	8	81,229,710 (GRCm39)	missense	possibly damaging	0.71
R0094:Gypa	UTSW	8	81,227,560 (GRCm39)	missense	unknown
R0563:Gypa	UTSW	8	81,236,089 (GRCm39)	missense	probably benign	0.04
R0685:Gypa	UTSW	8	81,223,331 (GRCm39)	splice site	probably benign
R0729:Gypa	UTSW	8	81,223,421 (GRCm39)	missense	unknown
R1299:Gypa	UTSW	8	81,223,382 (GRCm39)	missense	unknown
R2435:Gypa	UTSW	8	81,233,397 (GRCm39)	splice site	probably null
R4998:Gypa	UTSW	8	81,222,964 (GRCm39)	missense	unknown
R5121:Gypa	UTSW	8	81,222,977 (GRCm39)	missense	unknown
R6295:Gypa	UTSW	8	81,222,969 (GRCm39)	missense	unknown
R6827:Gypa	UTSW	8	81,231,417 (GRCm39)	missense	probably benign	0.00
R8171:Gypa	UTSW	8	81,236,092 (GRCm39)	missense	probably benign	0.09
R8200:Gypa	UTSW	8	81,220,695 (GRCm39)	missense	unknown
R9043:Gypa	UTSW	8	81,222,946 (GRCm39)	missense	unknown
Z1177:Gypa	UTSW	8	81,227,627 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCCACGGATAGAATGACTGACTGTGTAA -3'
(R):5'- GGGACTGCCATCTCACCTCCA -3'

Sequencing Primer
(F):5'- agaggcagaggcaggag -3'
(R):5'- gtgggaggcagcagtgg -3'

Posted On

2013-11-08