Incidental Mutation 'R9123:Sag'
ID 693002
Institutional Source Beutler Lab
Gene Symbol Sag
Ensembl Gene ENSMUSG00000056055
Gene Name S-antigen, retina and pineal gland (arrestin)
Synonyms arrestin 1, rod arrestin, Arr1, visual arrestin 1, A930001K18Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9123 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 87731402-87772880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87751043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 170 (S170P)
Ref Sequence ENSEMBL: ENSMUSP00000076948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077772] [ENSMUST00000177757]
AlphaFold P20443
Predicted Effect probably damaging
Transcript: ENSMUST00000077772
AA Change: S170P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076948
Gene: ENSMUSG00000056055
AA Change: S170P

DomainStartEndE-ValueType
Pfam:Arrestin_N 23 181 2.8e-36 PFAM
Arrestin_C 200 361 8.24e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177757
AA Change: S170P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136729
Gene: ENSMUSG00000056055
AA Change: S170P

DomainStartEndE-ValueType
Pfam:Arrestin_N 23 181 2.7e-34 PFAM
Arrestin_C 200 361 8.24e-30 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormalities in retinal rod cell outer segment morphology and rod electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 G A 17: 84,976,425 (GRCm39) H471Y probably damaging Het
Ank2 T A 3: 126,733,744 (GRCm39) D622V probably damaging Het
Apoe T A 7: 19,432,375 (GRCm39) probably benign Het
Asz1 T C 6: 18,054,561 (GRCm39) E414G probably benign Het
Atp2a2 A T 5: 122,604,918 (GRCm39) C420* probably null Het
Cd84 A T 1: 171,712,153 (GRCm39) probably null Het
Cdca2 T A 14: 67,917,762 (GRCm39) R545S probably benign Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cib1 T C 7: 79,877,751 (GRCm39) D182G probably damaging Het
Cpsf2 A G 12: 101,963,555 (GRCm39) D428G probably damaging Het
Cspg4b C T 13: 113,505,374 (GRCm39) P2168S Het
Dap3 T A 3: 88,837,861 (GRCm39) T130S probably benign Het
Ddb2 T A 2: 91,064,593 (GRCm39) K106* probably null Het
Ehd2 G A 7: 15,684,626 (GRCm39) A391V probably damaging Het
Evpl A T 11: 116,115,008 (GRCm39) I894N possibly damaging Het
Gabrb2 A G 11: 42,482,693 (GRCm39) T184A probably damaging Het
Gfpt1 G A 6: 87,053,248 (GRCm39) V403I probably benign Het
Gli1 A G 10: 127,167,202 (GRCm39) S684P possibly damaging Het
Gm7276 A G 18: 77,273,147 (GRCm39) S196P unknown Het
Hoxc10 C T 15: 102,875,810 (GRCm39) P173L probably benign Het
Hrnr A G 3: 93,238,863 (GRCm39) N3034D unknown Het
Kif2c A T 4: 117,024,291 (GRCm39) S359T probably benign Het
Lmln T G 16: 32,930,202 (GRCm39) L553R probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mettl1 T A 10: 126,880,911 (GRCm39) V191D possibly damaging Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Myl1 A T 1: 66,973,675 (GRCm39) probably null Het
Nfat5 A G 8: 108,078,141 (GRCm39) T427A probably damaging Het
Noa1 T C 5: 77,457,038 (GRCm39) Y289C possibly damaging Het
Or5d14 C T 2: 87,880,294 (GRCm39) V225M probably damaging Het
Or8b49 T A 9: 38,506,108 (GRCm39) I197K probably damaging Het
Piezo2 A G 18: 63,178,589 (GRCm39) I1776T probably benign Het
Ppp1r7 A G 1: 93,285,497 (GRCm39) I246V probably benign Het
Ppp4c T A 7: 126,386,739 (GRCm39) E116V probably damaging Het
Psme2 T A 14: 55,828,302 (GRCm39) K15N possibly damaging Het
Retreg1 C T 15: 25,968,618 (GRCm39) R125C probably damaging Het
Rnf145 G T 11: 44,450,819 (GRCm39) R381L probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Ryr1 G A 7: 28,771,229 (GRCm39) T2604I probably damaging Het
Sema3b T A 9: 107,478,173 (GRCm39) N404I possibly damaging Het
Serpina1b A T 12: 103,696,566 (GRCm39) L281Q probably damaging Het
Slc22a1 T A 17: 12,878,598 (GRCm39) T372S probably benign Het
Slco6d1 A T 1: 98,423,919 (GRCm39) N524Y probably damaging Het
Smarca2 T A 19: 26,693,583 (GRCm39) D1262E possibly damaging Het
Syne2 A T 12: 76,040,838 (GRCm39) H3832L probably damaging Het
Tarbp1 G T 8: 127,174,202 (GRCm39) T868K possibly damaging Het
Trp63 C T 16: 25,639,247 (GRCm39) A145V probably damaging Het
Tsc2 C T 17: 24,823,802 (GRCm39) R1001K probably null Het
Ttc39b T C 4: 83,189,444 (GRCm39) D30G probably damaging Het
Usf3 A G 16: 44,041,030 (GRCm39) T1837A probably benign Het
Usp25 T A 16: 76,911,969 (GRCm39) probably null Het
Vmn1r27 G A 6: 58,192,416 (GRCm39) T196I probably benign Het
Vrk3 C T 7: 44,407,254 (GRCm39) S75F possibly damaging Het
Washc5 T C 15: 59,209,134 (GRCm39) Y1030C probably damaging Het
Wdr47 T C 3: 108,526,106 (GRCm39) F210L probably damaging Het
Zfp853 G A 5: 143,274,496 (GRCm39) Q390* probably null Het
Zfyve9 A T 4: 108,575,760 (GRCm39) D440E probably benign Het
Other mutations in Sag
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00684:Sag APN 1 87,752,146 (GRCm39) critical splice acceptor site probably null
IGL00822:Sag APN 1 87,772,748 (GRCm39) splice site probably null
IGL01140:Sag APN 1 87,751,086 (GRCm39) missense probably benign 0.22
IGL01612:Sag APN 1 87,733,071 (GRCm39) missense probably damaging 0.98
IGL02183:Sag APN 1 87,756,197 (GRCm39) splice site probably null
IGL02893:Sag APN 1 87,762,315 (GRCm39) missense probably benign 0.01
R0049:Sag UTSW 1 87,762,340 (GRCm39) missense probably damaging 0.99
R0049:Sag UTSW 1 87,762,340 (GRCm39) missense probably damaging 0.99
R0091:Sag UTSW 1 87,742,402 (GRCm39) missense probably damaging 0.96
R0531:Sag UTSW 1 87,762,351 (GRCm39) critical splice donor site probably null
R0609:Sag UTSW 1 87,740,713 (GRCm39) missense probably damaging 0.98
R1328:Sag UTSW 1 87,738,016 (GRCm39) splice site probably benign
R1395:Sag UTSW 1 87,756,163 (GRCm39) missense probably benign 0.01
R1748:Sag UTSW 1 87,759,662 (GRCm39) missense probably damaging 1.00
R1858:Sag UTSW 1 87,742,570 (GRCm39) missense probably benign
R2020:Sag UTSW 1 87,733,037 (GRCm39) missense probably damaging 1.00
R3854:Sag UTSW 1 87,752,240 (GRCm39) splice site probably benign
R4021:Sag UTSW 1 87,749,027 (GRCm39) critical splice acceptor site probably null
R4298:Sag UTSW 1 87,772,737 (GRCm39) missense probably benign
R4630:Sag UTSW 1 87,762,340 (GRCm39) missense probably damaging 0.99
R5352:Sag UTSW 1 87,740,715 (GRCm39) missense probably benign 0.01
R5680:Sag UTSW 1 87,749,059 (GRCm39) missense possibly damaging 0.83
R6164:Sag UTSW 1 87,752,175 (GRCm39) missense probably damaging 1.00
R6407:Sag UTSW 1 87,742,528 (GRCm39) missense probably benign
R7431:Sag UTSW 1 87,749,059 (GRCm39) missense possibly damaging 0.83
R7548:Sag UTSW 1 87,772,638 (GRCm39) missense probably benign 0.01
R8122:Sag UTSW 1 87,762,289 (GRCm39) missense probably damaging 1.00
R8679:Sag UTSW 1 87,738,032 (GRCm39) missense probably benign 0.27
R8723:Sag UTSW 1 87,751,175 (GRCm39) critical splice donor site probably null
R8878:Sag UTSW 1 87,756,158 (GRCm39) missense probably benign 0.01
R8891:Sag UTSW 1 87,759,683 (GRCm39) missense probably damaging 1.00
R8995:Sag UTSW 1 87,733,052 (GRCm39) missense probably benign 0.00
R9036:Sag UTSW 1 87,749,054 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATGACACAGACTCTCCTGC -3'
(R):5'- TTTCACTAGAGCAGACCCAAG -3'

Sequencing Primer
(F):5'- TCCTGCAAGGAGGCTAACCAG -3'
(R):5'- ACTTGTGTGCATCTACAGAGTGAG -3'
Posted On 2022-01-20