Mutagenetix > Incidental Mutation

Incidental Mutation 'R2435:Gypa'

249550

Institutional Source

Beutler Lab

Gene Symbol

Gypa

Ensembl Gene

ENSMUSG00000051839

Gene Name

glycophorin A

Synonyms

GPA, CD235a

MMRRC Submission

040396-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2435 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81220674-81237414 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to T at 81233397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070836 (fasta)

Gene Model

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

AlphaFold

P14220

Predicted Effect

probably null
Transcript: ENSMUST00000063359

SMART Domains

Protein: ENSMUSP00000070836
Gene: ENSMUSG00000051839

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,898,294 (GRCm39)	T226I	probably benign	Het
Acvr1	T	C	2: 58,369,704 (GRCm39)	N102D	probably damaging	Het
Cd34	T	A	1: 194,621,334 (GRCm39)	C21S	probably damaging	Het
Cdh18	C	T	15: 23,367,094 (GRCm39)	R267W	probably damaging	Het
Ckap5	T	A	2: 91,411,490 (GRCm39)	N966K	probably benign	Het
Clec4e	A	G	6: 123,265,855 (GRCm39)	V44A	probably damaging	Het
Cubn	T	A	2: 13,323,083 (GRCm39)	N2828I	probably damaging	Het
Dnah10	G	T	5: 124,839,929 (GRCm39)		probably null	Het
Fshr	A	T	17: 89,508,024 (GRCm39)	V6D	unknown	Het
Gcc2	A	G	10: 58,130,602 (GRCm39)	D1398G	probably damaging	Het
Gpi1	G	A	7: 33,905,254 (GRCm39)	A390V	probably damaging	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Ifna13	T	A	4: 88,562,366 (GRCm39)	Q86L	probably damaging	Het
Itgae	T	A	11: 73,012,763 (GRCm39)	C698*	probably null	Het
Ivns1abp	T	C	1: 151,239,061 (GRCm39)	V625A	probably benign	Het
Kcnh2	A	G	5: 24,531,345 (GRCm39)		probably null	Het
Kcnj6	G	A	16: 94,563,538 (GRCm39)	T320M	probably damaging	Het
Mblac2	T	C	13: 81,898,368 (GRCm39)	I248T	probably damaging	Het
Muc5ac	A	T	7: 141,371,841 (GRCm39)	Y2647F	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or4k15	T	C	14: 50,364,211 (GRCm39)	M59T	probably damaging	Het
Or6c217	G	T	10: 129,738,173 (GRCm39)	N135K	possibly damaging	Het
Pard3b	T	A	1: 62,626,897 (GRCm39)	V1059E	probably damaging	Het
Pkd1l3	A	C	8: 110,377,334 (GRCm39)	I1585L	probably benign	Het
Pramel31	A	T	4: 144,089,473 (GRCm39)	I264F	possibly damaging	Het
Prrc2b	A	T	2: 32,109,741 (GRCm39)	S1791C	probably damaging	Het
Rbmxl2	C	A	7: 106,809,538 (GRCm39)	S274R	probably damaging	Het
Serpini2	T	C	3: 75,165,475 (GRCm39)	E168G	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sis	A	G	3: 72,819,237 (GRCm39)	S1440P	probably benign	Het
Snrnp40	A	G	4: 130,278,344 (GRCm39)	H283R	probably damaging	Het
Tcaf2	G	T	6: 42,607,298 (GRCm39)	Q219K	possibly damaging	Het
Tenm3	C	T	8: 48,740,988 (GRCm39)	R803H	probably damaging	Het
Ugt2b5	T	C	5: 87,287,465 (GRCm39)	D234G	probably damaging	Het
Unc13d	A	G	11: 115,959,514 (GRCm39)	F653S	probably damaging	Het
Unc93b1	A	G	19: 3,986,373 (GRCm39)	I136V	possibly damaging	Het
Utp20	A	G	10: 88,656,753 (GRCm39)	S151P	possibly damaging	Het
Vmn2r50	C	A	7: 9,787,026 (GRCm39)	W27L	probably benign	Het
Zan	T	C	5: 137,436,836 (GRCm39)	S2006G	unknown	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
R0850:Gypa	UTSW	8	81,222,974 (GRCm39)	missense	unknown
R1299:Gypa	UTSW	8	81,223,382 (GRCm39)	missense	unknown
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'- GTCTACGAAGCAGGGACTTTC -3'
(R):5'- ACTAGGAGAGACTCTTTAAGCCAC -3'

Sequencing Primer
(F):5'- CAGGGACTTTCCCAATATAAT -3'
(R):5'- ACTGGCAAATGCAGGTAC -3'

Posted On

2014-11-12