Mutagenetix > Incidental Mutation

Incidental Mutation 'R6295:Gypa'

508710

Institutional Source

Beutler Lab

Gene Symbol

Gypa

Ensembl Gene

ENSMUSG00000051839

Gene Name

glycophorin A

Synonyms

GPA, CD235a

MMRRC Submission

044463-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6295 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81220674-81237414 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 81222969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 24 (S24R)

Ref Sequence

ENSEMBL: ENSMUSP00000070836 (fasta)

Gene Model

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

AlphaFold

P14220

Predicted Effect

unknown
Transcript: ENSMUST00000063359
AA Change: S24R

SMART Domains

Protein: ENSMUSP00000070836
Gene: ENSMUSG00000051839
AA Change: S24R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (49/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	C	12: 118,838,379 (GRCm39)	V1061G	probably damaging	Het
Acap1	A	G	11: 69,781,413 (GRCm39)		probably null	Het
Apbb1	A	G	7: 105,215,902 (GRCm39)	F112L	probably benign	Het
Atg9a	A	G	1: 75,161,702 (GRCm39)	S615P	probably benign	Het
Atp8a2	G	A	14: 60,249,848 (GRCm39)	R548*	probably null	Het
Bbof1	A	T	12: 84,457,942 (GRCm39)	N69I	possibly damaging	Het
Bcl2l14	T	A	6: 134,404,370 (GRCm39)	V186D	probably benign	Het
Bmp1	T	G	14: 70,728,823 (GRCm39)	Y583S	possibly damaging	Het
Boc	A	C	16: 44,312,711 (GRCm39)	S586R	probably benign	Het
Btbd9	A	T	17: 30,518,710 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,317,919 (GRCm39)	M1180V	probably damaging	Het
Ciao1	T	C	2: 127,088,376 (GRCm39)	H149R	probably damaging	Het
Cops5	T	C	1: 10,100,920 (GRCm39)		probably benign	Het
Doc2b	C	T	11: 75,671,093 (GRCm39)	R209Q	probably damaging	Het
Doc2b	T	C	11: 75,686,451 (GRCm39)	Y90C	probably benign	Het
Ep400	A	G	5: 110,901,675 (GRCm39)	F481L	probably benign	Het
Fat4	T	A	3: 39,061,229 (GRCm39)		probably null	Het
Fbxw16	T	A	9: 109,277,837 (GRCm39)		probably benign	Het
Fbxw27	T	C	9: 109,601,154 (GRCm39)	E17G	possibly damaging	Het
Gm29735	G	A	7: 141,710,367 (GRCm39)	P162S	unknown	Het
Hdhd5	T	C	6: 120,495,485 (GRCm39)	N153D	probably benign	Het
Ibsp	C	A	5: 104,449,987 (GRCm39)		probably null	Het
Klhdc3	C	T	17: 46,988,972 (GRCm39)	V73I	probably benign	Het
Lrrc37a	T	C	11: 103,388,459 (GRCm39)	E2322G	unknown	Het
Lrrtm3	T	C	10: 63,765,913 (GRCm39)	H558R	probably benign	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mphosph9	A	G	5: 124,458,978 (GRCm39)	V64A	possibly damaging	Het
Nthl1	C	T	17: 24,857,475 (GRCm39)	R251C	probably damaging	Het
Numa1	G	A	7: 101,649,974 (GRCm39)	R1235H	probably benign	Het
Opn1sw	T	A	6: 29,379,413 (GRCm39)	Y197F	possibly damaging	Het
Or10a3m	T	C	7: 108,312,845 (GRCm39)	V95A	probably damaging	Het
Pcca	A	T	14: 122,896,187 (GRCm39)	I268F	probably benign	Het
Per2	A	T	1: 91,377,594 (GRCm39)	D76E	unknown	Het
Pfas	T	C	11: 68,888,825 (GRCm39)	N374S	probably benign	Het
Pomk	C	A	8: 26,472,955 (GRCm39)	V333F	probably damaging	Het
Ptgfr	T	C	3: 151,540,926 (GRCm39)	E194G	probably benign	Het
Ptpn14	C	T	1: 189,582,997 (GRCm39)	P615S	probably damaging	Het
Pyroxd1	T	C	6: 142,300,479 (GRCm39)	I203T	probably benign	Het
Rgs22	T	C	15: 36,087,520 (GRCm39)	N466S	probably benign	Het
Rpl3l	G	A	17: 24,952,966 (GRCm39)	V309I	probably benign	Het
Rtkn2	C	T	10: 67,815,529 (GRCm39)		probably benign	Het
Sec16a	C	T	2: 26,318,253 (GRCm39)	A1613T	probably damaging	Het
Sis	T	A	3: 72,874,103 (GRCm39)	T33S	probably damaging	Het
Slc22a4	C	A	11: 53,898,634 (GRCm39)	V153F	possibly damaging	Het
Stxbp1	C	G	2: 32,684,621 (GRCm39)	E603Q	probably damaging	Het
Tiam2	A	G	17: 3,559,831 (GRCm39)	S1291G	probably damaging	Het
Tmem94	T	A	11: 115,687,572 (GRCm39)	L1144M	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Vmn1r201	T	C	13: 22,659,533 (GRCm39)	V249A	probably benign	Het
Wdr7	T	A	18: 63,888,182 (GRCm39)	C552S	probably damaging	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
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
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'- GTCTCCACAATGTTGCGACAG -3'
(R):5'- CACCTCCAGTTACGATGGTTAC -3'

Sequencing Primer
(F):5'- ATTGCAGCTCCAGTCTTAAGG -3'
(R):5'- TGGCAGGAGATCCTCTAGAGC -3'

Posted On

2018-04-02